Mutagenetix > Incidental Mutation

Incidental Mutation 'R0607:Pcdhac2'

54358

Institutional Source

Beutler Lab

Gene Symbol

Pcdhac2

Ensembl Gene

ENSMUSG00000102697

Gene Name

protocadherin alpha subfamily C, 2

Synonyms

CNRc2

MMRRC Submission

038796-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0607 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37276731-37320716 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37278942 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 641 (I641V)

Ref Sequence

ENSEMBL: ENSMUSP00000039888 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007584] [ENSMUST00000047479] [ENSMUST00000047614] [ENSMUST00000070797] [ENSMUST00000115657] [ENSMUST00000115658] [ENSMUST00000115659] [ENSMUST00000115661] [ENSMUST00000192503] [ENSMUST00000192447] [ENSMUST00000193839] [ENSMUST00000192512] [ENSMUST00000193777] [ENSMUST00000192295] [ENSMUST00000192631] [ENSMUST00000115662] [ENSMUST00000192168] [ENSMUST00000193389] [ENSMUST00000194038] [ENSMUST00000194544] [ENSMUST00000194751] [ENSMUST00000195590]

AlphaFold

Q91Y09

Predicted Effect

probably benign
Transcript: ENSMUST00000007584

SMART Domains

Protein: ENSMUSP00000007584
Gene: ENSMUSG00000103255

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
CA	45	122	3.59e-1	SMART
CA	146	231	6.32e-22	SMART
CA	255	338	5.18e-18	SMART
CA	362	443	9.73e-23	SMART
CA	467	554	4.24e-23	SMART
CA	584	662	1.11e-8	SMART
Pfam:Cadherin_C_2	682	773	1.1e-12	PFAM
Pfam:Cadherin_tail	813	947	5.4e-58	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000047479
AA Change: I641V

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000039888
Gene: ENSMUSG00000102697
AA Change: I641V

Domain	Start	End	E-Value	Type
CA	30	145	9.8e-3	SMART
CA	169	254	2.07e-17	SMART
CA	278	362	2.86e-29	SMART
CA	386	466	4.79e-22	SMART
CA	490	576	1.44e-25	SMART
CA	606	687	3.45e-14	SMART
Pfam:Cadherin_C_2	702	809	1.2e-26	PFAM
low complexity region	810	823	N/A	INTRINSIC
Pfam:Cadherin_tail	855	989	5.8e-58	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000047614

SMART Domains

Protein: ENSMUSP00000047609
Gene: ENSMUSG00000103310

Domain	Start	End	E-Value	Type
CA	19	131	3.78e-2	SMART
CA	155	240	3.26e-24	SMART
CA	264	348	6.37e-27	SMART
CA	372	453	3.31e-25	SMART
CA	477	563	6.18e-25	SMART
CA	594	676	5.6e-14	SMART
low complexity region	679	696	N/A	INTRINSIC
transmembrane domain	699	721	N/A	INTRINSIC
Pfam:Cadherin_tail	799	933	5.3e-58	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000070797

SMART Domains

Protein: ENSMUSP00000068828
Gene: ENSMUSG00000103442

Domain	Start	End	E-Value	Type
CA	22	132	3.09e-2	SMART
CA	156	241	6.14e-20	SMART
CA	265	349	3.92e-27	SMART
CA	373	454	4.94e-24	SMART
CA	478	564	1e-24	SMART
CA	592	672	4.55e-14	SMART
transmembrane domain	694	716	N/A	INTRINSIC
Pfam:Cadherin_tail	797	931	5.3e-58	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115657

SMART Domains

Protein: ENSMUSP00000111321
Gene: ENSMUSG00000102206

Domain	Start	End	E-Value	Type
CA	21	131	2.95e-2	SMART
CA	155	240	7.44e-19	SMART
CA	264	347	5.63e-28	SMART
CA	371	452	3.14e-26	SMART
CA	476	562	1.42e-24	SMART
CA	593	675	1.03e-12	SMART
transmembrane domain	697	719	N/A	INTRINSIC
low complexity region	783	794	N/A	INTRINSIC
low complexity region	918	942	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115658

SMART Domains

Protein: ENSMUSP00000111322
Gene: ENSMUSG00000007440

Domain	Start	End	E-Value	Type
low complexity region	15	21	N/A	INTRINSIC
CA	46	132	6.34e-2	SMART
CA	156	241	4.65e-20	SMART
CA	265	349	1.25e-25	SMART
CA	373	454	9.22e-24	SMART
CA	478	564	4.3e-24	SMART
CA	595	678	5.07e-12	SMART
low complexity region	706	721	N/A	INTRINSIC
Pfam:Cadherin_tail	795	929	5.3e-58	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115659

SMART Domains

Protein: ENSMUSP00000111323
Gene: ENSMUSG00000103770

Domain	Start	End	E-Value	Type
low complexity region	44	51	N/A	INTRINSIC
CA	75	161	2.46e-2	SMART
CA	185	270	8.1e-20	SMART
CA	294	378	1.69e-22	SMART
CA	402	483	1.52e-24	SMART
CA	507	593	5.68e-24	SMART
CA	624	705	6.69e-12	SMART
transmembrane domain	727	749	N/A	INTRINSIC
Pfam:Cadherin_tail	828	962	5.6e-58	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115661

SMART Domains

Protein: ENSMUSP00000111325
Gene: ENSMUSG00000103458

Domain	Start	End	E-Value	Type
CA	20	131	5.3e-2	SMART
CA	155	240	1.51e-19	SMART
CA	264	348	7.6e-25	SMART
CA	372	453	1.42e-24	SMART
CA	477	563	1.42e-24	SMART
CA	594	674	4.12e-12	SMART
low complexity region	706	721	N/A	INTRINSIC
Pfam:Cadherin_tail	796	930	3.9e-58	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000192503

SMART Domains

Protein: ENSMUSP00000141989
Gene: ENSMUSG00000102312

Domain	Start	End	E-Value	Type
low complexity region	11	17	N/A	INTRINSIC
CA	42	128	3.78e-2	SMART
CA	152	237	8.94e-22	SMART
CA	261	345	3.74e-24	SMART
CA	369	450	1.09e-25	SMART
CA	474	560	1.42e-24	SMART
CA	588	670	2.96e-13	SMART
transmembrane domain	692	714	N/A	INTRINSIC
low complexity region	910	934	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000193856

Predicted Effect

probably benign
Transcript: ENSMUST00000193984

Predicted Effect

probably benign
Transcript: ENSMUST00000192447

SMART Domains

Protein: ENSMUSP00000142270
Gene: ENSMUSG00000102206

Domain	Start	End	E-Value	Type
CA	21	131	1.5e-4	SMART
CA	155	240	3.6e-21	SMART
CA	264	347	2.8e-30	SMART
CA	371	452	1.5e-28	SMART
CA	476	562	6.8e-27	SMART
CA	593	675	4.9e-15	SMART
transmembrane domain	697	719	N/A	INTRINSIC
low complexity region	783	794	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000193839

SMART Domains

Protein: ENSMUSP00000142308
Gene: ENSMUSG00000103442

Domain	Start	End	E-Value	Type
CA	22	132	3.09e-2	SMART
CA	156	241	6.14e-20	SMART
CA	265	349	3.92e-27	SMART
CA	373	454	4.94e-24	SMART
CA	478	564	1e-24	SMART
CA	592	672	4.55e-14	SMART
transmembrane domain	694	716	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000192512

SMART Domains

Protein: ENSMUSP00000141408
Gene: ENSMUSG00000104252

Domain	Start	End	E-Value	Type
CA	20	131	5.3e-2	SMART
CA	155	240	1.51e-19	SMART
CA	264	348	7.6e-25	SMART
CA	372	453	1.42e-24	SMART
CA	477	563	1.42e-24	SMART
CA	594	674	4.12e-12	SMART
low complexity region	706	721	N/A	INTRINSIC
low complexity region	915	939	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000193777

SMART Domains

Protein: ENSMUSP00000141587
Gene: ENSMUSG00000103707

Domain	Start	End	E-Value	Type
CA	21	131	5.67e-2	SMART
CA	155	240	4.72e-21	SMART
CA	264	348	1.9e-25	SMART
CA	372	453	3.31e-25	SMART
CA	477	563	1.42e-24	SMART
CA	594	676	5.91e-13	SMART
low complexity region	914	938	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000192295

SMART Domains

Protein: ENSMUSP00000142103
Gene: ENSMUSG00000104252

Domain	Start	End	E-Value	Type
CA	20	131	5.3e-2	SMART
CA	155	240	1.51e-19	SMART
CA	264	348	7.6e-25	SMART
CA	372	453	1.42e-24	SMART
CA	477	568	5.38e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000192631

SMART Domains

Protein: ENSMUSP00000142156
Gene: ENSMUSG00000104318

Domain	Start	End	E-Value	Type
CA	21	131	2.58e-2	SMART
CA	155	240	4.27e-19	SMART
CA	264	348	1.42e-24	SMART
CA	372	453	9.36e-25	SMART
CA	477	563	1.42e-24	SMART
CA	594	671	4.03e-6	SMART
transmembrane domain	696	718	N/A	INTRINSIC
low complexity region	905	929	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115662

SMART Domains

Protein: ENSMUSP00000111326
Gene: ENSMUSG00000104148

Domain	Start	End	E-Value	Type
CA	45	131	6.34e-2	SMART
CA	155	240	2.98e-18	SMART
CA	264	348	2.17e-29	SMART
CA	372	453	2.84e-24	SMART
CA	477	563	5.02e-25	SMART
CA	594	675	8.16e-16	SMART
transmembrane domain	695	717	N/A	INTRINSIC
low complexity region	916	940	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000192168

SMART Domains

Protein: ENSMUSP00000142293
Gene: ENSMUSG00000103092

Domain	Start	End	E-Value	Type
CA	21	131	2.2e-2	SMART
CA	155	240	2.05e-21	SMART
CA	264	348	8.81e-21	SMART
CA	372	453	2.01e-24	SMART
CA	477	563	1.42e-24	SMART
CA	591	673	1.63e-15	SMART
transmembrane domain	693	715	N/A	INTRINSIC
low complexity region	902	926	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000193389

SMART Domains

Protein: ENSMUSP00000141459
Gene: ENSMUSG00000103707

Domain	Start	End	E-Value	Type
CA	21	131	5.67e-2	SMART
CA	155	240	4.72e-21	SMART
CA	264	348	1.9e-25	SMART
CA	372	453	3.31e-25	SMART
CA	477	563	1.42e-24	SMART
CA	594	676	5.91e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000194038

SMART Domains

Protein: ENSMUSP00000142159
Gene: ENSMUSG00000103800

Domain	Start	End	E-Value	Type
CA	20	131	6.34e-2	SMART
CA	155	240	4.27e-19	SMART
CA	264	348	2.04e-25	SMART
CA	372	453	2.84e-24	SMART
CA	477	563	9.88e-24	SMART
CA	594	676	8.62e-15	SMART
transmembrane domain	699	721	N/A	INTRINSIC
low complexity region	914	938	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194691

Predicted Effect

probably benign
Transcript: ENSMUST00000194544

SMART Domains

Protein: ENSMUSP00000141847
Gene: ENSMUSG00000102836

Domain	Start	End	E-Value	Type
Blast:CA	18	66	5e-20	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000194751

SMART Domains

Protein: ENSMUSP00000142285
Gene: ENSMUSG00000103707

Domain	Start	End	E-Value	Type
low complexity region	15	21	N/A	INTRINSIC
Pfam:Cadherin_2	29	112	4.5e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000195590

SMART Domains

Protein: ENSMUSP00000141355
Gene: ENSMUSG00000104148

Domain	Start	End	E-Value	Type
CA	45	131	6.34e-2	SMART
CA	155	240	2.98e-18	SMART
CA	264	348	2.17e-29	SMART
CA	372	453	2.84e-24	SMART
CA	477	563	5.02e-25	SMART
CA	594	675	8.16e-16	SMART
transmembrane domain	695	717	N/A	INTRINSIC

Coding Region Coverage

1x: 99.7%
3x: 99.1%
10x: 97.6%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a reporter allele are viable and fertile with no apparent gross phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 147 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	A	G	7: 12,288,625 (GRCm39)	E146G	probably benign	Het
Abca4	G	A	3: 121,950,081 (GRCm39)	G594S	probably damaging	Het
Acacb	T	C	5: 114,338,362 (GRCm39)	Y726H	probably damaging	Het
Adam20	T	A	8: 41,248,517 (GRCm39)	M209K	probably benign	Het
Adam29	A	G	8: 56,326,310 (GRCm39)	V48A	probably damaging	Het
Adss2	A	G	1: 177,595,253 (GRCm39)	V429A	possibly damaging	Het
Aff1	T	C	5: 103,976,320 (GRCm39)	S481P	probably damaging	Het
Akr1c19	G	A	13: 4,288,459 (GRCm39)	A146T	probably benign	Het
Ankhd1	G	T	18: 36,773,333 (GRCm39)	V59F	probably damaging	Het
Ankmy1	T	G	1: 92,816,397 (GRCm39)	Y239S	probably damaging	Het
Ankrd24	G	T	10: 81,474,142 (GRCm39)	C19F	probably damaging	Het
Apaf1	T	C	10: 90,845,065 (GRCm39)	H1002R	probably damaging	Het
Apc2	T	C	10: 80,149,935 (GRCm39)	I1663T	probably benign	Het
Apcdd1	A	G	18: 63,084,967 (GRCm39)	N388S	possibly damaging	Het
Arap2	G	A	5: 62,763,474 (GRCm39)	P1557S	possibly damaging	Het
Armc2	T	A	10: 41,798,691 (GRCm39)	H706L	probably benign	Het
Arrb1	T	C	7: 99,237,403 (GRCm39)		probably null	Het
Atl3	T	C	19: 7,507,031 (GRCm39)		probably null	Het
B9d2	A	G	7: 25,382,757 (GRCm39)	T44A	probably damaging	Het
Btbd3	C	T	2: 138,125,736 (GRCm39)	R307W	possibly damaging	Het
C1galt1	T	C	6: 7,871,193 (GRCm39)	I343T	probably benign	Het
Cacna1a	A	G	8: 85,356,460 (GRCm39)	D1901G	probably damaging	Het
Ccdc42	C	T	11: 68,488,536 (GRCm39)	Q312*	probably null	Het
Cdh18	T	C	15: 23,410,876 (GRCm39)	Y454H	probably benign	Het
Celf5	G	A	10: 81,301,839 (GRCm39)	T317I	probably damaging	Het
Celsr2	A	T	3: 108,311,211 (GRCm39)		probably null	Het
Cenpf	A	T	1: 189,414,660 (GRCm39)		probably null	Het
Cep350	T	C	1: 155,747,794 (GRCm39)	D2042G	probably damaging	Het
Chd3	T	C	11: 69,235,184 (GRCm39)	D2054G	probably damaging	Het
Chgb	A	G	2: 132,635,255 (GRCm39)	H399R	probably benign	Het
Clp1	C	T	2: 84,555,935 (GRCm39)	A182T	possibly damaging	Het
Col15a1	A	G	4: 47,282,654 (GRCm39)	N777S	probably damaging	Het
Coq6	A	G	12: 84,415,412 (GRCm39)	D145G	possibly damaging	Het
Csf2rb2	T	C	15: 78,172,108 (GRCm39)	Y325C	probably benign	Het
Ctnna2	T	C	6: 76,879,413 (GRCm39)	T824A	probably benign	Het
Cyp4x1	T	A	4: 114,970,023 (GRCm39)	D368V	probably damaging	Het
D430041D05Rik	C	T	2: 104,063,790 (GRCm39)	R1354H	probably damaging	Het
D6Ertd527e	A	C	6: 87,088,887 (GRCm39)	D350A	unknown	Het
Ddx24	A	G	12: 103,385,326 (GRCm39)	Y426H	possibly damaging	Het
Dexi	G	T	16: 10,360,426 (GRCm39)	Y43*	probably null	Het
Dgka	A	G	10: 128,556,338 (GRCm39)		probably null	Het
Dhx38	A	T	8: 110,285,575 (GRCm39)	D419E	probably benign	Het
Dlg1	G	A	16: 31,656,992 (GRCm39)	V596I	possibly damaging	Het
Dlg1	C	A	16: 31,484,398 (GRCm39)	Q9K	probably benign	Het
Dnah11	A	C	12: 118,046,246 (GRCm39)	W1731G	probably damaging	Het
Dnhd1	T	A	7: 105,369,995 (GRCm39)	N4473K	probably benign	Het
Dync2h1	A	C	9: 7,051,480 (GRCm39)	S3152A	probably benign	Het
Egfl7	C	T	2: 26,479,452 (GRCm39)	T68I	probably damaging	Het
Eif2a	G	A	3: 58,463,073 (GRCm39)		probably null	Het
Emb	G	A	13: 117,369,286 (GRCm39)	V56I	possibly damaging	Het
Enpp4	A	T	17: 44,410,386 (GRCm39)	C397S	probably damaging	Het
Entpd3	A	G	9: 120,386,471 (GRCm39)	T151A	possibly damaging	Het
Ero1b	A	G	13: 12,589,747 (GRCm39)	D50G	probably damaging	Het
Fam219a	A	G	4: 41,520,242 (GRCm39)	*169Q	probably null	Het
Fga	G	A	3: 82,935,869 (GRCm39)	G32E	probably damaging	Het
Fkbpl	T	C	17: 34,864,333 (GRCm39)	F34L	probably benign	Het
Fsd2	T	A	7: 81,194,765 (GRCm39)	D466V	probably damaging	Het
Gja1	A	G	10: 56,264,166 (GRCm39)	Y175C	possibly damaging	Het
Gm5478	T	A	15: 101,553,059 (GRCm39)	I338F	probably damaging	Het
Greb1	T	A	12: 16,732,194 (GRCm39)	Y1589F	probably damaging	Het
Grk3	C	T	5: 113,067,919 (GRCm39)	E537K	probably damaging	Het
H2-K2	G	T	17: 34,218,474 (GRCm39)	D127E	probably damaging	Het
Hcrtr2	A	G	9: 76,137,966 (GRCm39)	L383P	probably benign	Het
Hmcn1	C	T	1: 150,514,651 (GRCm39)	V3574M	probably benign	Het
Ikbke	A	T	1: 131,197,921 (GRCm39)		probably null	Het
Il1r2	A	G	1: 40,144,615 (GRCm39)	K101E	probably benign	Het
Itga11	A	T	9: 62,681,653 (GRCm39)	H1054L	probably benign	Het
Kif13a	A	T	13: 46,956,187 (GRCm39)	V539D	probably damaging	Het
Kifc1	G	A	17: 34,105,621 (GRCm39)	T62I	probably damaging	Het
Klhl28	A	G	12: 64,998,529 (GRCm39)	Y322H	probably damaging	Het
Klhl6	C	A	16: 19,775,764 (GRCm39)	D265Y	possibly damaging	Het
Krt86	T	A	15: 101,377,412 (GRCm39)	C479S	unknown	Het
Lama2	C	T	10: 27,065,127 (GRCm39)	R1179H	probably benign	Het
Lce6a	A	T	3: 92,527,635 (GRCm39)	H57Q	probably benign	Het
Lcn11	T	C	2: 25,669,305 (GRCm39)	V154A	probably benign	Het
Lnpep	A	T	17: 17,758,816 (GRCm39)	F843I	probably damaging	Het
Lrrc49	C	T	9: 60,573,640 (GRCm39)	V281I	probably benign	Het
Lrrtm1	C	A	6: 77,221,611 (GRCm39)	A356E	probably damaging	Het
Map3k1	A	C	13: 111,900,044 (GRCm39)	H493Q	probably benign	Het
Mcm4	A	T	16: 15,449,979 (GRCm39)		probably null	Het
Mdn1	C	T	4: 32,712,014 (GRCm39)	P1844L	probably damaging	Het
Mdn1	T	A	4: 32,732,829 (GRCm39)	D3076E	probably benign	Het
Med6	A	T	12: 81,635,798 (GRCm39)	L27H	probably damaging	Het
Mrtfb	A	G	16: 13,199,465 (GRCm39)	E106G	probably damaging	Het
Myo7a	T	A	7: 97,721,153 (GRCm39)	T1271S	probably damaging	Het
Myo9a	T	A	9: 59,829,076 (GRCm39)	M2376K	probably benign	Het
Nell2	G	A	15: 95,127,095 (GRCm39)	T760I	probably benign	Het
Neurod6	C	T	6: 55,656,572 (GRCm39)	A22T	probably benign	Het
Nlrp10	T	C	7: 108,523,492 (GRCm39)	K663E	probably benign	Het
Nopchap1	T	C	10: 83,197,961 (GRCm39)	S56P	probably benign	Het
Npr3	T	A	15: 11,845,368 (GRCm39)	K501N	probably benign	Het
Nr2f2	C	A	7: 70,004,460 (GRCm39)	R264L	probably damaging	Het
Nup35	T	A	2: 80,472,984 (GRCm39)	M19K	probably benign	Het
Oacyl	A	T	18: 65,880,962 (GRCm39)	Q592L	possibly damaging	Het
Or10a4	T	A	7: 106,696,933 (GRCm39)	I87K	probably benign	Het
Or1ad6	C	A	11: 50,860,670 (GRCm39)	A275D	possibly damaging	Het
Or2v1	C	G	11: 49,025,549 (GRCm39)	H177D	probably damaging	Het
Or4a71	A	G	2: 89,358,451 (GRCm39)	V101A	possibly damaging	Het
Or5af1	T	A	11: 58,722,798 (GRCm39)	S273T	probably damaging	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Or5b122	T	A	19: 13,563,534 (GRCm39)	Y289N	probably damaging	Het
Or5p51	A	G	7: 107,444,776 (GRCm39)	S55P	probably damaging	Het
Or6c76b	T	G	10: 129,693,070 (GRCm39)	S228A	possibly damaging	Het
Or8k25	T	A	2: 86,243,514 (GRCm39)	N294I	probably damaging	Het
Or9k7	T	C	10: 130,046,939 (GRCm39)	E20G	probably benign	Het
Patl2	T	C	2: 121,957,150 (GRCm39)	Y128C	probably benign	Het
Polr2b	T	C	5: 77,461,006 (GRCm39)		probably benign	Het
Pot1b	A	T	17: 55,972,765 (GRCm39)	I469N	probably damaging	Het
Prdm11	G	T	2: 92,844,130 (GRCm39)	D33E	possibly damaging	Het
Prkdc	A	G	16: 15,589,921 (GRCm39)	S2595G	probably damaging	Het
Prrc1	G	A	18: 57,507,622 (GRCm39)	V259I	possibly damaging	Het
Prrc2b	G	T	2: 32,103,882 (GRCm39)	R1120L	probably damaging	Het
Prss38	T	C	11: 59,266,369 (GRCm39)	S30G	possibly damaging	Het
Raph1	A	T	1: 60,565,028 (GRCm39)	L153Q	probably damaging	Het
Reck	A	G	4: 43,940,719 (GRCm39)	T843A	probably benign	Het
Rgs7bp	T	C	13: 105,103,610 (GRCm39)	N164D	probably benign	Het
Rpusd4	C	A	9: 35,179,289 (GRCm39)	A35D	possibly damaging	Het
Setd1b	T	C	5: 123,298,014 (GRCm39)		probably benign	Het
Siglec15	G	T	18: 78,089,352 (GRCm39)	D297E	probably benign	Het
Skint7	T	A	4: 111,834,656 (GRCm39)	C13*	probably null	Het
Slc5a12	A	G	2: 110,463,088 (GRCm39)	M395V	probably benign	Het
Sohlh2	C	A	3: 55,115,104 (GRCm39)	S363Y	probably damaging	Het
Srgap3	A	T	6: 112,700,080 (GRCm39)	V966E	probably damaging	Het
Stk4	C	T	2: 163,940,462 (GRCm39)	P266L	probably damaging	Het
Stxbp5l	G	A	16: 36,962,794 (GRCm39)	H754Y	probably benign	Het
Synpo2l	A	T	14: 20,710,748 (GRCm39)	M624K	probably damaging	Het
Tas2r136	T	C	6: 132,754,375 (GRCm39)	I251V	probably benign	Het
Tecpr1	C	T	5: 144,149,408 (GRCm39)	V340M	probably damaging	Het
Tecta	C	T	9: 42,299,501 (GRCm39)	G196S	probably damaging	Het
Tex55	A	C	16: 38,648,726 (GRCm39)	S128A	probably benign	Het
Thsd7a	T	A	6: 12,331,541 (GRCm39)		probably null	Het
Timeless	T	C	10: 128,082,203 (GRCm39)	V577A	probably benign	Het
Tln1	A	T	4: 43,553,071 (GRCm39)	V340E	probably damaging	Het
Tmem132c	T	A	5: 127,640,617 (GRCm39)	Y929*	probably null	Het
Tmprss7	C	T	16: 45,489,914 (GRCm39)	R436Q	probably damaging	Het
Tnik	A	C	3: 28,704,308 (GRCm39)	K989T	probably damaging	Het
Tnxb	T	A	17: 34,890,892 (GRCm39)	Y412N	probably damaging	Het
Trmt44	A	G	5: 35,726,103 (GRCm39)		probably null	Het
Trpm6	C	A	19: 18,849,585 (GRCm39)	T1704N	probably benign	Het
Tsc2	A	T	17: 24,840,686 (GRCm39)	V391E	probably damaging	Het
Ttc22	T	C	4: 106,496,510 (GRCm39)	V520A	possibly damaging	Het
Ttc3	T	A	16: 94,257,644 (GRCm39)	Y1650*	probably null	Het
Vmn2r24	A	G	6: 123,763,893 (GRCm39)	T257A	probably benign	Het
Xab2	A	C	8: 3,663,605 (GRCm39)	N408K	probably benign	Het
Zbtb42	A	T	12: 112,647,061 (GRCm39)	Y412F	probably benign	Het
Zfp282	A	G	6: 47,857,303 (GRCm39)	N179D	probably damaging	Het
Zfp62	C	A	11: 49,106,227 (GRCm39)	T106K	probably benign	Het

Other mutations in Pcdhac2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Pcdhac2	APN	18	37,278,128 (GRCm39)	missense	probably damaging	1.00
IGL01400:Pcdhac2	APN	18	37,279,339 (GRCm39)	missense	possibly damaging	0.79
IGL02302:Pcdhac2	APN	18	37,279,006 (GRCm39)	missense	probably damaging	0.99
IGL02381:Pcdhac2	APN	18	37,277,320 (GRCm39)	missense	possibly damaging	0.94
IGL02644:Pcdhac2	APN	18	37,278,232 (GRCm39)	missense	probably benign
IGL02645:Pcdhac2	APN	18	37,278,292 (GRCm39)	missense	probably damaging	0.97
IGL03087:Pcdhac2	APN	18	37,278,735 (GRCm39)	missense	probably damaging	1.00
R0004:Pcdhac2	UTSW	18	37,278,290 (GRCm39)	missense	probably benign	0.21
R0374:Pcdhac2	UTSW	18	37,278,720 (GRCm39)	missense	probably damaging	1.00
R0540:Pcdhac2	UTSW	18	37,278,942 (GRCm39)	missense	probably benign	0.02
R0589:Pcdhac2	UTSW	18	37,279,527 (GRCm39)	missense	probably benign
R1537:Pcdhac2	UTSW	18	37,279,539 (GRCm39)	missense	possibly damaging	0.51
R1545:Pcdhac2	UTSW	18	37,279,186 (GRCm39)	missense	possibly damaging	0.93
R1878:Pcdhac2	UTSW	18	37,278,215 (GRCm39)	missense	possibly damaging	0.71
R2139:Pcdhac2	UTSW	18	37,279,139 (GRCm39)	nonsense	probably null
R2197:Pcdhac2	UTSW	18	37,279,185 (GRCm39)	missense	probably damaging	0.99
R2680:Pcdhac2	UTSW	18	37,278,639 (GRCm39)	missense	possibly damaging	0.82
R2882:Pcdhac2	UTSW	18	37,278,865 (GRCm39)	missense	probably damaging	1.00
R3719:Pcdhac2	UTSW	18	37,279,288 (GRCm39)	missense	possibly damaging	0.59
R4256:Pcdhac2	UTSW	18	37,277,764 (GRCm39)	missense	probably damaging	1.00
R4407:Pcdhac2	UTSW	18	37,277,499 (GRCm39)	missense	probably benign	0.00
R4426:Pcdhac2	UTSW	18	37,277,796 (GRCm39)	missense	probably benign	0.00
R4698:Pcdhac2	UTSW	18	37,278,822 (GRCm39)	missense	probably damaging	1.00
R4737:Pcdhac2	UTSW	18	37,278,952 (GRCm39)	missense	possibly damaging	0.95
R4950:Pcdhac2	UTSW	18	37,278,283 (GRCm39)	missense	probably benign	0.06
R4993:Pcdhac2	UTSW	18	37,279,304 (GRCm39)	missense	probably damaging	0.96
R5127:Pcdhac2	UTSW	18	37,277,352 (GRCm39)	nonsense	probably null
R5446:Pcdhac2	UTSW	18	37,278,253 (GRCm39)	missense	probably damaging	1.00
R5598:Pcdhac2	UTSW	18	37,277,476 (GRCm39)	missense	probably damaging	1.00
R5615:Pcdhac2	UTSW	18	37,279,476 (GRCm39)	missense	probably benign	0.22
R5615:Pcdhac2	UTSW	18	37,279,477 (GRCm39)	missense	probably benign
R5620:Pcdhac2	UTSW	18	37,277,257 (GRCm39)	missense	probably benign
R5661:Pcdhac2	UTSW	18	37,278,499 (GRCm39)	missense	probably damaging	0.97
R5760:Pcdhac2	UTSW	18	37,279,453 (GRCm39)	missense	probably damaging	1.00
R6102:Pcdhac2	UTSW	18	37,279,335 (GRCm39)	nonsense	probably null
R6310:Pcdhac2	UTSW	18	37,278,824 (GRCm39)	nonsense	probably null
R6493:Pcdhac2	UTSW	18	37,277,758 (GRCm39)	missense	probably damaging	1.00
R6695:Pcdhac2	UTSW	18	37,278,256 (GRCm39)	missense	probably benign	0.00
R6827:Pcdhac2	UTSW	18	37,277,706 (GRCm39)	missense	probably benign	0.03
R6953:Pcdhac2	UTSW	18	37,277,479 (GRCm39)	missense	probably benign
R7140:Pcdhac2	UTSW	18	37,277,239 (GRCm39)	missense	possibly damaging	0.89
R7162:Pcdhac2	UTSW	18	37,278,840 (GRCm39)	missense	probably benign	0.13
R7242:Pcdhac2	UTSW	18	37,277,946 (GRCm39)	missense	possibly damaging	0.82
R7325:Pcdhac2	UTSW	18	37,278,413 (GRCm39)	missense	probably damaging	1.00
R7640:Pcdhac2	UTSW	18	37,277,578 (GRCm39)	missense	probably damaging	1.00
R7654:Pcdhac2	UTSW	18	37,278,076 (GRCm39)	missense	probably damaging	1.00
R7810:Pcdhac2	UTSW	18	37,278,717 (GRCm39)	missense	probably benign	0.18
R8072:Pcdhac2	UTSW	18	37,278,717 (GRCm39)	missense	probably benign	0.18
R8079:Pcdhac2	UTSW	18	37,279,197 (GRCm39)	missense	probably damaging	0.96
R8272:Pcdhac2	UTSW	18	37,279,242 (GRCm39)	missense	probably benign	0.30
R8489:Pcdhac2	UTSW	18	37,278,207 (GRCm39)	missense	probably damaging	1.00
R8893:Pcdhac2	UTSW	18	37,277,071 (GRCm39)	missense	probably benign
R9035:Pcdhac2	UTSW	18	37,277,758 (GRCm39)	missense	probably damaging	1.00
R9189:Pcdhac2	UTSW	18	37,277,316 (GRCm39)	missense	probably benign	0.00
R9262:Pcdhac2	UTSW	18	37,279,095 (GRCm39)	missense	possibly damaging	0.71
R9626:Pcdhac2	UTSW	18	37,279,555 (GRCm39)	missense	probably damaging	0.99
R9688:Pcdhac2	UTSW	18	37,277,628 (GRCm39)	missense	probably benign	0.01
T0970:Pcdhac2	UTSW	18	37,278,388 (GRCm39)	missense	possibly damaging	0.61

Predicted Primers

PCR Primer
(F):5'- TGTCTCCATTAACAGTGCCAGCGG -3'
(R):5'- GTGCCATAAGCAGTGTAGCGGTAG -3'

Sequencing Primer
(F):5'- TAAGCAGCACTGTGACCG -3'
(R):5'- CGGTAGCACTTAATGATGCTCAG -3'

Posted On

2013-07-11