Mutagenetix > Incidental Mutations

Incidental Mutation 'R4993:Pcdhac2'

385058

Institutional Source

Beutler Lab

Gene Symbol

Pcdhac2

Ensembl Gene

ENSMUSG00000102697

Gene Name

protocadherin alpha subfamily C, 2

Synonyms

CNRc2

MMRRC Submission

042587-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4993 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37143503-37187657 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 37146251 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 761 (N761K)

Ref Sequence

ENSEMBL: ENSMUSP00000039888 (fasta)

Gene Model

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

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 damaging
Transcript: ENSMUST00000047479
AA Change: N761K

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000039888
Gene: ENSMUSG00000102697
AA Change: N761K

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: 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: 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: 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: 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: 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

noncoding transcript
Transcript: ENSMUST00000194691

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: 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

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: 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

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: ENSMUST00000193856

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: ENSMUST00000193984

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: 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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,426,349	V173M	probably damaging	Het
9130008F23Rik	G	T	17: 40,880,161	Q126K	probably benign	Het
Abca15	C	A	7: 120,401,718	N1492K	probably damaging	Het
Afap1l2	C	T	19: 56,918,040	D402N	probably damaging	Het
Akap11	A	G	14: 78,512,968	F660L	probably damaging	Het
Bcl3	T	C	7: 19,820,177	T89A	probably benign	Het
Bub1b	T	C	2: 118,636,770	I858T	possibly damaging	Het
Cdk19	A	G	10: 40,476,218	D288G	possibly damaging	Het
Cyp2d34	T	A	15: 82,618,329	D202V	probably damaging	Het
Dip2c	T	G	13: 9,575,223	Y584*	probably null	Het
Dpf3	A	T	12: 83,331,861		probably null	Het
Drp2	G	A	X: 134,441,316	R567H	probably damaging	Homo
Emid1	G	T	11: 5,131,512	Q212K	probably benign	Het
Esm1	C	T	13: 113,213,399	Q118*	probably null	Het
Fahd2a	T	G	2: 127,436,364	I308L	probably benign	Het
Fam208a	T	A	14: 27,429,114	W16R	possibly damaging	Het
Fanci	T	C	7: 79,435,378	*851Q	probably null	Het
Fastkd1	C	A	2: 69,702,740	V428F	probably damaging	Het
Fat2	A	T	11: 55,283,092	I2265N	probably damaging	Het
Gale	C	A	4: 135,966,860	H191Q	probably damaging	Het
Ghsr	T	A	3: 27,372,254	V153E	possibly damaging	Het
Gm10696	C	T	3: 94,176,316	G63R	probably damaging	Het
Gpc6	A	G	14: 117,624,539	N289S	possibly damaging	Het
Hoxb6	A	T	11: 96,300,711	Y153F	probably damaging	Het
Ints3	T	C	3: 90,415,507	T139A	probably benign	Het
Irf2bp2	A	G	8: 126,592,671	S256P	probably benign	Het
Klf4	G	T	4: 55,530,640	P148Q	probably damaging	Het
Loxl1	T	G	9: 58,312,537	H117P	probably damaging	Het
Lpl	A	G	8: 68,895,793	K225E	probably benign	Het
Lrba	T	A	3: 86,360,037	V1678D	probably damaging	Het
Med1	A	T	11: 98,163,904	F398Y	probably damaging	Het
Mfap2	T	C	4: 141,015,578	*186Q	probably null	Het
Mfsd3	T	C	15: 76,701,982	L105P	probably damaging	Het
Mlxip	T	G	5: 123,395,294	I122S	probably damaging	Het
Mmrn2	A	T	14: 34,396,398	Y107F	probably damaging	Het
Mtg1	G	T	7: 140,140,283	D88Y	probably null	Het
Mutyh	T	A	4: 116,817,935	S426R	probably benign	Het
Myo16	C	T	8: 10,476,094	T878I	probably damaging	Het
Myo9a	T	A	9: 59,861,472	Y912*	probably null	Het
Ncor1	A	C	11: 62,343,341	I669R	probably damaging	Het
Ndufs1	T	C	1: 63,163,776	I210V	probably benign	Het
Nek9	A	G	12: 85,310,420	C657R	probably damaging	Het
Noct	C	T	3: 51,250,021	T260I	probably damaging	Het
Nr1h4	A	T	10: 89,498,180	M102K	probably benign	Het
Obscn	G	A	11: 59,124,761	R1054C	possibly damaging	Het
Olfr1124	T	A	2: 87,435,152	F222I	probably benign	Het
Olfr352	C	A	2: 36,869,988	Q141K	probably benign	Het
Olfr47	A	G	6: 43,236,456	M283V	possibly damaging	Het
Olfr501-ps1	G	A	7: 108,508,243	M62I	probably damaging	Het
Olfr615	T	A	7: 103,561,317	I280N	possibly damaging	Het
Olfr619	A	T	7: 103,603,656	M1L	probably benign	Het
Otol1	C	A	3: 70,018,878	Q129K	probably benign	Het
Otx1	A	T	11: 21,998,532		probably null	Het
Pde1c	A	T	6: 56,150,624	M452K	probably damaging	Het
Phkg2	T	C	7: 127,573,941	Y24H	probably damaging	Het
Pigr	G	A	1: 130,841,817	D122N	probably benign	Het
Prg4	C	T	1: 150,460,681	C97Y	probably damaging	Het
Ptdss1	T	C	13: 66,945,288	V64A	probably benign	Het
Ralgapa2	T	C	2: 146,447,311	K324E	probably damaging	Het
Rfx5	G	A	3: 94,955,815	V73I	probably benign	Het
Riiad1	T	C	3: 94,472,863	T42A	probably benign	Het
Rims2	T	C	15: 39,454,445	V640A	possibly damaging	Het
Rnpep	G	T	1: 135,263,032	S592Y	possibly damaging	Het
Scap	T	C	9: 110,378,390	L431P	probably damaging	Het
Siglec1	T	A	2: 131,073,361	I1437F	possibly damaging	Het
Skint1	T	C	4: 112,028,333		probably null	Het
Slc44a1	A	G	4: 53,543,644	E396G	probably damaging	Het
Slc4a2	T	C	5: 24,434,869	F521S	probably damaging	Het
Smarcc1	T	A	9: 110,175,061	S394R	probably damaging	Het
Socs1	A	G	16: 10,784,685	S63P	probably benign	Het
Sun1	T	G	5: 139,225,333	S20A	possibly damaging	Het
Tac4	A	T	11: 95,265,242	K50*	probably null	Het
Tcaf2	A	G	6: 42,642,640	I151T	probably damaging	Het
Tcf4	T	C	18: 69,681,769	V587A	probably damaging	Het
Ttc37	T	A	13: 76,182,936	M1495K	probably damaging	Het
Ttn	T	A	2: 76,740,909	K24801*	probably null	Het
Tuba3b	G	T	6: 145,621,273	M413I	possibly damaging	Het
Ufl1	C	T	4: 25,267,832	A280T	possibly damaging	Het
Ugt2b5	T	A	5: 87,139,673	I212L	probably benign	Het
Umodl1	A	G	17: 30,986,485	T685A	probably benign	Het
Uqcrc1	T	A	9: 108,944,810	V183D	probably damaging	Het
Ush2a	A	G	1: 188,910,720	N4093S	probably benign	Het
Vmn1r167	C	T	7: 23,505,228	S121N	probably damaging	Het
Vmn1r47	A	G	6: 90,022,758	S291G	possibly damaging	Het
Vmn2r108	A	G	17: 20,481,187	V17A	probably benign	Het
Vmn2r58	T	A	7: 41,837,752	H573L	probably benign	Het
Xirp1	C	T	9: 120,018,792	V342I	probably damaging	Het
Zfp462	A	G	4: 55,051,204	M2226V	possibly damaging	Het
Zfp467	G	A	6: 48,439,029	H230Y	probably damaging	Het
Zfp595	T	A	13: 67,316,401	K599N	probably damaging	Het
Zfp819	C	A	7: 43,617,296	T401K	probably benign	Het

Other mutations in Pcdhac2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Pcdhac2	APN	18	37145075	missense	probably damaging	1.00
IGL01400:Pcdhac2	APN	18	37146286	missense	possibly damaging	0.79
IGL02302:Pcdhac2	APN	18	37145953	missense	probably damaging	0.99
IGL02381:Pcdhac2	APN	18	37144267	missense	possibly damaging	0.94
IGL02644:Pcdhac2	APN	18	37145179	missense	probably benign
IGL02645:Pcdhac2	APN	18	37145239	missense	probably damaging	0.97
IGL03087:Pcdhac2	APN	18	37145682	missense	probably damaging	1.00
R0004:Pcdhac2	UTSW	18	37145237	missense	probably benign	0.21
R0374:Pcdhac2	UTSW	18	37145667	missense	probably damaging	1.00
R0540:Pcdhac2	UTSW	18	37145889	missense	probably benign	0.02
R0589:Pcdhac2	UTSW	18	37146474	missense	probably benign
R0607:Pcdhac2	UTSW	18	37145889	missense	probably benign	0.02
R1537:Pcdhac2	UTSW	18	37146486	missense	possibly damaging	0.51
R1545:Pcdhac2	UTSW	18	37146133	missense	possibly damaging	0.93
R1878:Pcdhac2	UTSW	18	37145162	missense	possibly damaging	0.71
R2139:Pcdhac2	UTSW	18	37146086	nonsense	probably null
R2197:Pcdhac2	UTSW	18	37146132	missense	probably damaging	0.99
R2680:Pcdhac2	UTSW	18	37145586	missense	possibly damaging	0.82
R2882:Pcdhac2	UTSW	18	37145812	missense	probably damaging	1.00
R3719:Pcdhac2	UTSW	18	37146235	missense	possibly damaging	0.59
R4256:Pcdhac2	UTSW	18	37144711	missense	probably damaging	1.00
R4407:Pcdhac2	UTSW	18	37144446	missense	probably benign	0.00
R4426:Pcdhac2	UTSW	18	37144743	missense	probably benign	0.00
R4698:Pcdhac2	UTSW	18	37145769	missense	probably damaging	1.00
R4737:Pcdhac2	UTSW	18	37145899	missense	possibly damaging	0.95
R4950:Pcdhac2	UTSW	18	37145230	missense	probably benign	0.06
R5127:Pcdhac2	UTSW	18	37144299	nonsense	probably null
R5446:Pcdhac2	UTSW	18	37145200	missense	probably damaging	1.00
R5598:Pcdhac2	UTSW	18	37144423	missense	probably damaging	1.00
R5615:Pcdhac2	UTSW	18	37146423	missense	probably benign	0.22
R5615:Pcdhac2	UTSW	18	37146424	missense	probably benign
R5620:Pcdhac2	UTSW	18	37144204	missense	probably benign
R5661:Pcdhac2	UTSW	18	37145446	missense	probably damaging	0.97
R5760:Pcdhac2	UTSW	18	37146400	missense	probably damaging	1.00
R6102:Pcdhac2	UTSW	18	37146282	nonsense	probably null
R6310:Pcdhac2	UTSW	18	37145771	nonsense	probably null
R6493:Pcdhac2	UTSW	18	37144705	missense	probably damaging	1.00
R6695:Pcdhac2	UTSW	18	37145203	missense	probably benign	0.00
R6827:Pcdhac2	UTSW	18	37144653	missense	probably benign	0.03
R6953:Pcdhac2	UTSW	18	37144426	missense	probably benign
R7140:Pcdhac2	UTSW	18	37144186	missense	possibly damaging	0.89
R7162:Pcdhac2	UTSW	18	37145787	missense	probably benign	0.13
R7242:Pcdhac2	UTSW	18	37144893	missense	possibly damaging	0.82
R7325:Pcdhac2	UTSW	18	37145360	missense	probably damaging	1.00
R7640:Pcdhac2	UTSW	18	37144525	missense	probably damaging	1.00
R7654:Pcdhac2	UTSW	18	37145023	missense	probably damaging	1.00
R7810:Pcdhac2	UTSW	18	37145664	missense	probably benign	0.18
R8072:Pcdhac2	UTSW	18	37145664	missense	probably benign	0.18
R8079:Pcdhac2	UTSW	18	37146144	missense	probably damaging	0.96
R8272:Pcdhac2	UTSW	18	37146189	missense	probably benign	0.30
T0970:Pcdhac2	UTSW	18	37145335	missense	possibly damaging	0.61

Predicted Primers

PCR Primer
(F):5'- TCGGACATACTCTGAGATCACAC -3'
(R):5'- AGTTGCCTGTTGTCAGTCAC -3'

Sequencing Primer
(F):5'- GACATACTCTGAGATCACACTTTATC -3'
(R):5'- CCTGTTGTCAGTCACTGAGGC -3'

Posted On

2016-05-10