Mutagenetix > Incidental Mutation

Incidental Mutation 'R7084:Pcdha5'

549792

Institutional Source

Beutler Lab

Gene Symbol

Pcdha5

Ensembl Gene

ENSMUSG00000103092

Gene Name

protocadherin alpha 5

Synonyms

Cnr6, Crnr6

MMRRC Submission

045178-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.199) question?

Stock #

R7084 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37093493-37320710 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 37094615 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 375 (S375T)

Ref Sequence

ENSEMBL: ENSMUSP00000142293 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070797] [ENSMUST00000115661] [ENSMUST00000115662] [ENSMUST00000192168] [ENSMUST00000192295] [ENSMUST00000192503] [ENSMUST00000192512] [ENSMUST00000193839] [ENSMUST00000195590]

AlphaFold

Q91Y15

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: 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
AA Change: S375T

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000142293
Gene: ENSMUSG00000103092
AA Change: S375T

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: 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

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: 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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (81/82)

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]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110070M22Rik	A	T	13: 119,624,721 (GRCm39)	D8E	unknown	Het
Abca5	T	A	11: 110,192,371 (GRCm39)	I714L	probably benign	Het
Abce1	T	A	8: 80,426,043 (GRCm39)	S245C	probably benign	Het
Abcg1	T	A	17: 31,325,105 (GRCm39)	D310E	probably benign	Het
Adhfe1	T	A	1: 9,637,030 (GRCm39)	I394N	probably benign	Het
Apob	A	T	12: 8,059,591 (GRCm39)	D2691V	probably benign	Het
Arhgap18	A	G	10: 26,748,734 (GRCm39)	T340A	possibly damaging	Het
Arsb	A	T	13: 94,077,124 (GRCm39)	Q497L	probably benign	Het
Asic5	T	C	3: 81,919,318 (GRCm39)	I354T	probably benign	Het
Atp6v0a1	T	C	11: 100,924,868 (GRCm39)	C318R	probably damaging	Het
Cftr	T	C	6: 18,226,137 (GRCm39)	Y362H	probably benign	Het
Crip3	T	C	17: 46,741,716 (GRCm39)	Y113H	probably benign	Het
Dcaf4	AT	A	12: 83,584,571 (GRCm39)		probably null	Het
Dock10	T	A	1: 80,481,573 (GRCm39)	I475F		Het
Dqx1	T	A	6: 83,043,436 (GRCm39)	Y674N	probably damaging	Het
Dync2h1	G	T	9: 7,113,214 (GRCm39)	Q2437K	possibly damaging	Het
Ednra	A	T	8: 78,391,734 (GRCm39)	C385*	probably null	Het
Fam216a	G	A	5: 122,507,623 (GRCm39)	T68I	probably benign	Het
Fbxw22	A	G	9: 109,233,291 (GRCm39)	L14P	probably damaging	Het
Fem1al	G	T	11: 29,775,009 (GRCm39)	H149Q	probably damaging	Het
Fkbp10	A	G	11: 100,312,129 (GRCm39)	I230V	possibly damaging	Het
Ggn	C	A	7: 28,872,423 (GRCm39)	A637E	probably damaging	Het
Hcrtr2	T	C	9: 76,137,942 (GRCm39)	D391G	probably benign	Het
Heatr5b	A	T	17: 79,117,992 (GRCm39)	V817D	possibly damaging	Het
Il1f10	G	A	2: 24,183,682 (GRCm39)	W120*	probably null	Het
Irf5	C	A	6: 29,535,876 (GRCm39)	R297S	probably damaging	Het
Jak2	A	G	19: 29,263,798 (GRCm39)	T438A	possibly damaging	Het
Jsrp1	T	C	10: 80,644,410 (GRCm39)	D332G	possibly damaging	Het
Kank4	A	T	4: 98,659,582 (GRCm39)	V832D	probably damaging	Het
Kcnip3	C	T	2: 127,352,856 (GRCm39)	S25N	probably benign	Het
Klk1b16	C	T	7: 43,788,910 (GRCm39)	H48Y	probably benign	Het
Klrh1	C	A	6: 129,743,673 (GRCm39)	A204S	possibly damaging	Het
Krtap5-4	G	A	7: 141,857,609 (GRCm39)	C93Y	unknown	Het
Lacc1	T	A	14: 77,267,096 (GRCm39)	Q389L	probably benign	Het
Lin9	C	A	1: 180,515,661 (GRCm39)	T477K	probably benign	Het
Lpar2	A	T	8: 70,276,256 (GRCm39)	N15I	probably damaging	Het
Ltbp2	C	A	12: 84,915,459 (GRCm39)	C200F	probably damaging	Het
Mall	G	T	2: 127,550,793 (GRCm39)	H122Q	probably benign	Het
Mast3	T	C	8: 71,232,117 (GRCm39)	I1287V	probably benign	Het
Mindy4	T	C	6: 55,255,220 (GRCm39)	I566T	probably benign	Het
Mme	T	C	3: 63,235,638 (GRCm39)	Y195H	probably damaging	Het
Mpzl1	T	C	1: 165,432,267 (GRCm39)	T173A	probably benign	Het
Mri1	G	T	8: 84,977,708 (GRCm39)	T209N		Het
Myo1e	A	G	9: 70,245,083 (GRCm39)	I394V	probably damaging	Het
Nat14	T	C	7: 4,927,329 (GRCm39)	V167A	possibly damaging	Het
Nfasc	A	G	1: 132,498,247 (GRCm39)	Y1212H	unknown	Het
Nsun7	T	A	5: 66,452,764 (GRCm39)	L493Q	probably damaging	Het
Obsl1	A	T	1: 75,464,394 (GRCm39)	S1637R	probably benign	Het
Ocstamp	A	T	2: 165,239,957 (GRCm39)	Y76*	probably null	Het
Or5b95	A	C	19: 12,658,198 (GRCm39)	H242P	probably damaging	Het
Or6c2b	T	A	10: 128,947,416 (GRCm39)	K293*	probably null	Het
Or8b52	G	A	9: 38,576,565 (GRCm39)	R192C	probably benign	Het
Otog	T	A	7: 45,947,990 (GRCm39)	C145*	probably null	Het
Padi6	T	A	4: 140,468,869 (GRCm39)	K5*	probably null	Het
Pde10a	C	T	17: 9,159,994 (GRCm39)	P140S	probably benign	Het
Pgbd1	C	G	13: 21,607,300 (GRCm39)	C298S	possibly damaging	Het
Plch2	C	T	4: 155,071,448 (GRCm39)	G977D	probably benign	Het
Pou2f3	T	C	9: 43,040,188 (GRCm39)	T367A	probably damaging	Het
Ppm1j	T	A	3: 104,692,276 (GRCm39)	Y352N	probably damaging	Het
Prkag2	T	C	5: 25,226,967 (GRCm39)	T97A	probably benign	Het
Rpl36a-ps1	T	A	14: 99,231,660 (GRCm39)	Y26F	probably benign	Het
Sctr	A	T	1: 119,991,001 (GRCm39)	N445Y	possibly damaging	Het
Serping1	C	T	2: 84,603,835 (GRCm39)	V69I	probably benign	Het
Slc8a2	T	A	7: 15,878,963 (GRCm39)	L483Q	probably benign	Het
Spag17	T	C	3: 99,846,586 (GRCm39)	F37L	probably benign	Het
Srrm2	T	A	17: 24,039,290 (GRCm39)	M1978K	probably damaging	Het
Tcp11	T	C	17: 28,285,995 (GRCm39)	Q540R	probably benign	Het
Thnsl1	G	T	2: 21,217,141 (GRCm39)	R298S	possibly damaging	Het
Tigd5	T	A	15: 75,782,230 (GRCm39)	Y197*	probably null	Het
Tmprss11g	A	T	5: 86,640,059 (GRCm39)	L203Q	probably damaging	Het
Trim35	T	A	14: 66,546,271 (GRCm39)	V346E	probably damaging	Het
Ttn	T	C	2: 76,598,708 (GRCm39)	I19402V	possibly damaging	Het
Ttn	C	T	2: 76,749,689 (GRCm39)	E3787K	probably benign	Het
Tut1	G	A	19: 8,942,778 (GRCm39)	V622I	probably benign	Het
Vmn1r2	A	G	4: 3,172,134 (GRCm39)	I18V	probably benign	Het
Zbbx	T	C	3: 75,046,853 (GRCm39)	N22S	possibly damaging	Het
Zfp169	A	C	13: 48,652,339 (GRCm39)	M26R	probably benign	Het
Zfp180	T	A	7: 23,804,686 (GRCm39)	H368Q	probably damaging	Het
Zfp638	T	A	6: 83,930,108 (GRCm39)	S770T	possibly damaging	Het
Znrf1	T	C	8: 112,263,774 (GRCm39)	M1T	probably null	Het

Other mutations in Pcdha5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
tarantula	UTSW	18	37,094,474 (GRCm39)	missense	probably benign	0.00
R2483:Pcdha5	UTSW	18	37,094,834 (GRCm39)	missense	probably damaging	1.00
R2483:Pcdha5	UTSW	18	37,094,542 (GRCm39)	missense	probably benign
R2888:Pcdha5	UTSW	18	37,094,940 (GRCm39)	missense	probably damaging	1.00
R2907:Pcdha5	UTSW	18	37,093,868 (GRCm39)	missense	possibly damaging	0.59
R2981:Pcdha5	UTSW	18	37,094,529 (GRCm39)	missense	probably damaging	1.00
R4468:Pcdha5	UTSW	18	37,095,233 (GRCm39)	missense	probably benign	0.08
R4724:Pcdha5	UTSW	18	37,094,549 (GRCm39)	missense	possibly damaging	0.61
R5280:Pcdha5	UTSW	18	37,094,755 (GRCm39)	nonsense	probably null
R5412:Pcdha5	UTSW	18	37,095,510 (GRCm39)	missense	probably benign	0.29
R5731:Pcdha5	UTSW	18	37,093,820 (GRCm39)	missense	probably damaging	1.00
R5783:Pcdha5	UTSW	18	37,095,534 (GRCm39)	missense	probably benign	0.00
R5865:Pcdha5	UTSW	18	37,094,474 (GRCm39)	missense	probably benign	0.00
R5984:Pcdha5	UTSW	18	37,094,733 (GRCm39)	missense	probably damaging	1.00
R6498:Pcdha5	UTSW	18	37,095,768 (GRCm39)	missense	possibly damaging	0.52
R6719:Pcdha5	UTSW	18	37,093,925 (GRCm39)	missense	probably damaging	1.00
R7113:Pcdha5	UTSW	18	37,094,757 (GRCm39)	missense	probably benign
R7432:Pcdha5	UTSW	18	37,095,379 (GRCm39)	missense	probably benign	0.07
R7507:Pcdha5	UTSW	18	37,093,909 (GRCm39)	missense	probably benign	0.01
R7515:Pcdha5	UTSW	18	37,095,171 (GRCm39)	missense	probably damaging	1.00
R7642:Pcdha5	UTSW	18	37,093,544 (GRCm39)	missense	probably benign	0.00
R7815:Pcdha5	UTSW	18	37,094,556 (GRCm39)	missense	possibly damaging	0.63
R8129:Pcdha5	UTSW	18	37,094,832 (GRCm39)	missense	probably damaging	1.00
R8132:Pcdha5	UTSW	18	37,093,694 (GRCm39)	missense	possibly damaging	0.83
R8139:Pcdha5	UTSW	18	37,095,791 (GRCm39)	missense	possibly damaging	0.69
R8469:Pcdha5	UTSW	18	37,094,798 (GRCm39)	missense	probably benign	0.02
R9533:Pcdha5	UTSW	18	37,093,986 (GRCm39)	missense	probably damaging	1.00
R9700:Pcdha5	UTSW	18	37,094,447 (GRCm39)	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- TAAGGGCGAACTGGATTACG -3'
(R):5'- TGTATTCGGGCTGCGCAAAC -3'

Sequencing Primer
(F):5'- GCGAACTGGATTACGAAGACTG -3'
(R):5'- GTCGTTCACGTCAGCCAC -3'

Posted On

2019-05-15