Mutagenetix > Incidental Mutation

Incidental Mutation 'R6058:Pcdhga3'

483095

Institutional Source

Beutler Lab

Gene Symbol

Pcdhga3

Ensembl Gene

ENSMUSG00000104346

Gene Name

protocadherin gamma subfamily A, 3

Synonyms

MMRRC Submission

044224-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

R6058 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37807388-37974926 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37808141 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 198 (D198V)

Ref Sequence

ENSEMBL: ENSMUSP00000073150 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073447] [ENSMUST00000115661] [ENSMUST00000193869] [ENSMUST00000194190] [ENSMUST00000194544]

AlphaFold

Q91XY5

Predicted Effect

probably damaging
Transcript: ENSMUST00000073447
AA Change: D198V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000073150
Gene: ENSMUSG00000104346
AA Change: D198V

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
CA	42	128	2.15e-2	SMART
CA	152	237	4.8e-13	SMART
CA	261	342	9.36e-25	SMART
CA	366	447	6.62e-25	SMART
CA	471	557	6.72e-26	SMART
CA	588	666	2.15e-15	SMART
Pfam:Cadherin_C_2	685	768	4.8e-24	PFAM
Pfam:Cadherin_tail	805	928	8.1e-38	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: ENSMUST00000193869

SMART Domains

Protein: ENSMUSP00000141482
Gene: ENSMUSG00000103332

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
CA	45	131	1.64e-2	SMART
CA	155	240	6.42e-23	SMART
CA	264	345	1.76e-20	SMART
CA	369	450	2.27e-23	SMART
CA	474	560	1.5e-23	SMART
CA	591	669	1.17e-16	SMART
transmembrane domain	692	714	N/A	INTRINSIC
low complexity region	912	931	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000193984

Predicted Effect

probably benign
Transcript: ENSMUST00000194190

SMART Domains

Protein: ENSMUSP00000142062
Gene: ENSMUSG00000103144

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
CA	31	131	3.16e-2	SMART
CA	155	240	5.39e-16	SMART
CA	264	345	6.72e-26	SMART
CA	369	450	1.32e-24	SMART
CA	474	560	4.17e-22	SMART
CA	591	669	4.48e-13	SMART
transmembrane domain	692	714	N/A	INTRINSIC
low complexity region	912	931	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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.6%

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 gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
Adamts20	G	A	15: 94,227,928 (GRCm39)	R1040*	probably null	Het
Akt1	A	G	12: 112,628,634 (GRCm39)	L52P	probably damaging	Het
Alk	T	A	17: 72,176,742 (GRCm39)	T1521S	probably benign	Het
Armt1	A	G	10: 4,403,488 (GRCm39)	N191S	probably damaging	Het
Ascl1	T	G	10: 87,328,562 (GRCm39)	N130T	probably damaging	Het
Bahcc1	T	G	11: 120,178,211 (GRCm39)	S2257A	probably damaging	Het
Cd86	T	C	16: 36,449,377 (GRCm39)	M7V	possibly damaging	Het
Cep57	A	T	9: 13,722,057 (GRCm39)	S304R	possibly damaging	Het
Cep57l1	A	T	10: 41,616,918 (GRCm39)	I123N	possibly damaging	Het
Cers6	A	G	2: 68,692,008 (GRCm39)	N10S	probably benign	Het
Chrng	A	G	1: 87,139,074 (GRCm39)	D475G	probably damaging	Het
Crabp1	T	A	9: 54,680,129 (GRCm39)	V128E	probably damaging	Het
Csnk2a1-ps3	T	C	1: 156,352,425 (GRCm39)	Y209H	probably damaging	Het
Dcdc2a	T	C	13: 25,240,354 (GRCm39)	V34A	possibly damaging	Het
Eeig1	G	A	2: 32,450,102 (GRCm39)	V117I	probably benign	Het
Fbn1	A	G	2: 125,308,532 (GRCm39)	C177R	possibly damaging	Het
Fras1	A	G	5: 96,857,844 (GRCm39)	D2046G	probably benign	Het
Glul	T	C	1: 153,783,087 (GRCm39)	I220T	probably benign	Het
Gpc6	C	T	14: 118,202,182 (GRCm39)	T464M	probably damaging	Het
Gpm6a	T	C	8: 55,511,833 (GRCm39)	S236P	probably damaging	Het
H2-K2	G	T	17: 34,218,304 (GRCm39)	T204K	probably benign	Het
H2-K2	T	C	17: 34,218,305 (GRCm39)	T204A	probably benign	Het
Hecw2	T	C	1: 53,963,135 (GRCm39)	H792R	possibly damaging	Het
Herc4	T	A	10: 63,110,821 (GRCm39)	I244K	possibly damaging	Het
Hsd11b2	G	T	8: 106,249,966 (GRCm39)	R359L	possibly damaging	Het
Igsf9	G	A	1: 172,312,456 (GRCm39)	E56K	probably damaging	Het
Il9	T	C	13: 56,628,495 (GRCm39)	T65A	possibly damaging	Het
Kcnip1	T	C	11: 33,592,478 (GRCm39)	T102A	probably damaging	Het
L3mbtl2	T	C	15: 81,551,555 (GRCm39)	S74P	probably benign	Het
Lamc2	C	T	1: 153,012,575 (GRCm39)	D700N	probably benign	Het
Ldb2	T	C	5: 44,633,905 (GRCm39)	T322A	possibly damaging	Het
Lix1	A	T	17: 17,664,012 (GRCm39)	I117F	probably damaging	Het
Map2	T	A	1: 66,454,573 (GRCm39)	D1154E	probably benign	Het
Marco	A	T	1: 120,404,435 (GRCm39)	I425N	probably damaging	Het
Mark4	T	C	7: 19,160,310 (GRCm39)	E650G	probably benign	Het
Mink1	A	G	11: 70,502,546 (GRCm39)	T1086A	possibly damaging	Het
Nxf1	G	A	19: 8,745,186 (GRCm39)	V479M	probably damaging	Het
Or10v1	T	A	19: 11,873,388 (GRCm39)	M1K	probably null	Het
Or11g2	T	C	14: 50,856,158 (GRCm39)	F160L	probably benign	Het
Or2n1e	A	G	17: 38,586,150 (GRCm39)	T163A	probably damaging	Het
Or5h23	T	C	16: 58,906,273 (GRCm39)	D191G	probably damaging	Het
Or5h23	A	G	16: 58,906,792 (GRCm39)	V18A	probably benign	Het
Or6c5	T	C	10: 129,074,329 (GRCm39)	S104P	probably damaging	Het
Otx2	T	C	14: 48,896,215 (GRCm39)	D281G	probably damaging	Het
Ppp1r13l	T	C	7: 19,104,500 (GRCm39)	V273A	probably benign	Het
Ppp6r2	T	C	15: 89,137,455 (GRCm39)		probably null	Het
Pramel51	T	A	12: 88,143,995 (GRCm39)	I273F	possibly damaging	Het
Prg4	C	T	1: 150,327,197 (GRCm39)	G873D	probably damaging	Het
Ptprq	T	C	10: 107,471,135 (GRCm39)	N1422S	probably benign	Het
Rbm27	A	T	18: 42,460,570 (GRCm39)	K839M	probably damaging	Het
Rere	A	T	4: 150,553,255 (GRCm39)	N149I	probably damaging	Het
Ret	A	G	6: 118,156,280 (GRCm39)	L340S	probably benign	Het
Sel1l2	T	A	2: 140,082,889 (GRCm39)	D583V	possibly damaging	Het
Shroom1	A	T	11: 53,354,308 (GRCm39)	D76V	possibly damaging	Het
Slc5a3	C	A	16: 91,875,963 (GRCm39)	S673R	probably benign	Het
Spink1	A	T	18: 43,861,247 (GRCm39)	I74N	probably damaging	Het
Tbc1d1	T	A	5: 64,435,352 (GRCm39)	S497T	probably damaging	Het
Trim3	C	T	7: 105,260,278 (GRCm39)	R741Q	probably damaging	Het
Ttn	A	G	2: 76,747,022 (GRCm39)	C4676R	probably benign	Het
Ubqlnl	G	A	7: 103,797,959 (GRCm39)	P513S	probably benign	Het
Unc13d	C	T	11: 115,964,394 (GRCm39)		probably null	Het
Vmn1r125	TGG	TG	7: 21,006,144 (GRCm39)		probably null	Het
Vmn2r7	A	T	3: 64,632,436 (GRCm39)	C9S	probably benign	Het
Xdh	T	A	17: 74,213,264 (GRCm39)	M829L	probably damaging	Het
Zcrb1	A	G	15: 93,285,463 (GRCm39)	F173L	probably benign	Het
Zfp41	T	C	15: 75,490,372 (GRCm39)	V108A	probably damaging	Het
Zfp438	T	C	18: 5,213,209 (GRCm39)	E583G	probably damaging	Het
Zfp628	T	C	7: 4,923,917 (GRCm39)	L713P	probably damaging	Het
Zfp664	T	A	5: 124,963,042 (GRCm39)	C145*	probably null	Het
Zfp683	T	C	4: 133,786,042 (GRCm39)	C390R	probably damaging	Het
Zfp941	G	A	7: 140,392,010 (GRCm39)	P450S	probably damaging	Het

Other mutations in Pcdhga3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00934:Pcdhga3	APN	18	37,808,486 (GRCm39)	missense	possibly damaging	0.92
R2863:Pcdhga3	UTSW	18	37,807,643 (GRCm39)	missense	probably damaging	0.99
R4446:Pcdhga3	UTSW	18	37,808,938 (GRCm39)	missense	probably damaging	0.99
R4581:Pcdhga3	UTSW	18	37,809,934 (GRCm39)	missense	probably benign	0.00
R4747:Pcdhga3	UTSW	18	37,809,799 (GRCm39)	missense	probably benign	0.29
R4964:Pcdhga3	UTSW	18	37,809,154 (GRCm39)	missense	probably benign	0.05
R5165:Pcdhga3	UTSW	18	37,808,723 (GRCm39)	missense	possibly damaging	0.60
R5210:Pcdhga3	UTSW	18	37,808,963 (GRCm39)	missense	probably benign	0.03
R5370:Pcdhga3	UTSW	18	37,808,343 (GRCm39)	missense	probably damaging	1.00
R5402:Pcdhga3	UTSW	18	37,808,747 (GRCm39)	missense	probably benign	0.33
R5610:Pcdhga3	UTSW	18	37,808,276 (GRCm39)	missense	possibly damaging	0.83
R5782:Pcdhga3	UTSW	18	37,809,353 (GRCm39)	missense	possibly damaging	0.91
R5889:Pcdhga3	UTSW	18	37,809,662 (GRCm39)	missense	probably damaging	1.00
R6127:Pcdhga3	UTSW	18	37,807,757 (GRCm39)	missense	probably damaging	0.98
R6307:Pcdhga3	UTSW	18	37,809,674 (GRCm39)	unclassified	probably benign
R6893:Pcdhga3	UTSW	18	37,809,598 (GRCm39)	missense	probably benign	0.37
R7013:Pcdhga3	UTSW	18	37,808,674 (GRCm39)	missense	probably damaging	1.00
R7174:Pcdhga3	UTSW	18	37,808,980 (GRCm39)	missense	probably benign	0.02
R7448:Pcdhga3	UTSW	18	37,808,917 (GRCm39)	missense	possibly damaging	0.94
R7492:Pcdhga3	UTSW	18	37,809,178 (GRCm39)	missense	probably benign	0.01
R7509:Pcdhga3	UTSW	18	37,808,910 (GRCm39)	nonsense	probably null
R7914:Pcdhga3	UTSW	18	37,808,013 (GRCm39)	missense	probably benign	0.00
R7984:Pcdhga3	UTSW	18	37,809,549 (GRCm39)	missense	probably benign	0.00
R8782:Pcdhga3	UTSW	18	37,807,865 (GRCm39)	missense	probably damaging	1.00
R9157:Pcdhga3	UTSW	18	37,809,229 (GRCm39)	missense	probably benign	0.40
R9169:Pcdhga3	UTSW	18	37,809,088 (GRCm39)	missense	probably damaging	1.00
R9436:Pcdhga3	UTSW	18	37,808,144 (GRCm39)	missense	probably damaging	1.00
R9437:Pcdhga3	UTSW	18	37,808,144 (GRCm39)	missense	probably damaging	1.00
R9588:Pcdhga3	UTSW	18	37,808,564 (GRCm39)	missense	probably damaging	1.00
R9767:Pcdhga3	UTSW	18	37,808,096 (GRCm39)	missense	probably benign	0.00
R9778:Pcdhga3	UTSW	18	37,807,786 (GRCm39)	missense	probably benign	0.42
Z1177:Pcdhga3	UTSW	18	37,809,674 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- CTAACAGTTCCTGGAACCCG -3'
(R):5'- GGACACTTGAGCATTGAATCCCTC -3'

Sequencing Primer
(F):5'- CGATTCCCACTTAAAACTGCATTTG -3'
(R):5'- TGAATCCCTCATCAGGATCAGTGG -3'

Posted On

2017-07-14