Mutagenetix > Incidental Mutations

Incidental Mutation 'R3723:Pcdhga1'

473363

Institutional Source

Beutler Lab

Gene Symbol

Pcdhga1

Ensembl Gene

ENSMUSG00000103144

Gene Name

protocadherin gamma subfamily A, 1

Synonyms

MMRRC Submission

040714-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3723 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37661793-37841873 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37662992 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 350 (T350A)

Ref Sequence

ENSEMBL: ENSMUSP00000142062 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115661] [ENSMUST00000194190] [ENSMUST00000194544] [ENSMUST00000194888]

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000097608

SMART Domains

Protein: ENSMUSP00000095213
Gene: ENSMUSG00000073590

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
transmembrane domain	57	79	N/A	INTRINSIC

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

noncoding transcript
Transcript: ENSMUST00000192137

Predicted Effect

probably benign
Transcript: ENSMUST00000193984

Predicted Effect

possibly damaging
Transcript: ENSMUST00000194190
AA Change: T350A

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000142062
Gene: ENSMUSG00000103144
AA Change: T350A

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

noncoding transcript
Transcript: ENSMUST00000194328

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: ENSMUST00000194888
AA Change: T350A

PolyPhen 2 Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000141367
Gene: ENSMUSG00000103144
AA Change: T350A

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
CA	31	131	1.6e-4	SMART
CA	155	240	2.7e-18	SMART
CA	264	345	3.3e-28	SMART
CA	369	450	6.7e-27	SMART
CA	474	560	2e-24	SMART
CA	591	669	2.2e-15	SMART
transmembrane domain	692	714	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

95% (38/40)

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]
PHENOTYPE: Mice homozygous for a null/reporter allele are viable and fertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	T	C	19: 9,016,853	V5167A	possibly damaging	Het
Ano5	A	G	7: 51,576,528	Y510C	probably damaging	Het
Api5	C	T	2: 94,425,613	R243Q	possibly damaging	Het
Apob	A	T	12: 8,006,327	Q1570L	probably damaging	Het
Apob	A	G	12: 8,011,763	N3415S	possibly damaging	Het
Arsk	T	A	13: 76,066,653	I361F	probably damaging	Het
C9	G	A	15: 6,483,080	E228K	possibly damaging	Het
Celsr2	A	G	3: 108,397,415		probably benign	Het
Cfap53	A	G	18: 74,359,569	I455V	probably benign	Het
Ckap4	A	G	10: 84,528,392	L269P	probably damaging	Het
Dnah7a	T	A	1: 53,447,346	D3352V	probably benign	Het
Dync2h1	A	T	9: 7,041,658	M3335K	probably benign	Het
Fam171a1	A	G	2: 3,220,375		probably benign	Het
Glis3	A	T	19: 28,262,591	C97*	probably null	Het
Gm13101	T	C	4: 143,966,681	T76A	probably benign	Het
Gm14221	C	G	2: 160,568,427		noncoding transcript	Het
Gm8603	A	C	17: 13,516,813		probably null	Het
Gm9767	G	T	10: 26,078,571		probably benign	Het
Kctd16	A	G	18: 40,258,859	T167A	possibly damaging	Het
Kif18b	A	G	11: 102,916,276	F78L	probably damaging	Het
Mefv	A	G	16: 3,708,194		probably null	Het
Mipol1	C	A	12: 57,457,092	L349I	probably damaging	Het
Myo10	T	C	15: 25,803,288	V1527A	probably damaging	Het
Naip5	G	T	13: 100,223,014	Y571*	probably null	Het
Npl	A	G	1: 153,515,464	F182L	probably benign	Het
Pan3	T	A	5: 147,503,208		probably benign	Het
Pcdh15	A	T	10: 74,645,848	T342S	probably benign	Het
Prdm4	A	G	10: 85,899,281	S666P	probably damaging	Het
Rere	A	G	4: 150,468,795	E148G	probably damaging	Het
Scube2	T	C	7: 109,808,406		probably benign	Het
Sptbn1	A	G	11: 30,137,335	S1035P	possibly damaging	Het
Srsf4	C	T	4: 131,900,102		probably benign	Het
Supt3	A	G	17: 44,994,387	D108G	probably damaging	Het
Tnfsf13b	A	G	8: 10,031,545	I236V	possibly damaging	Het
Tns1	T	C	1: 73,924,940	S1511G	probably damaging	Het
Tpm1	G	A	9: 67,031,945		probably benign	Het
Uba6	T	C	5: 86,135,047	D559G	probably damaging	Het
Vmn1r117	T	A	7: 20,883,455	I223F	probably damaging	Het
Vmn2r91	G	A	17: 18,085,278		probably null	Het
Zfp30	A	G	7: 29,793,353	E344G	probably damaging	Het

Other mutations in Pcdhga1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
BB009:Pcdhga1	UTSW	18	37663460	missense	probably damaging	1.00
BB019:Pcdhga1	UTSW	18	37663460	missense	probably damaging	1.00
R1074:Pcdhga1	UTSW	18	37825087	splice site	probably benign
R1869:Pcdhga1	UTSW	18	37840090	missense	probably damaging	0.98
R1871:Pcdhga1	UTSW	18	37840090	missense	probably damaging	0.98
R3732:Pcdhga1	UTSW	18	37664123	missense	probably benign	0.00
R4243:Pcdhga1	UTSW	18	37663552	missense	probably damaging	1.00
R4245:Pcdhga1	UTSW	18	37663552	missense	probably damaging	1.00
R4424:Pcdhga1	UTSW	18	37662579	missense	probably damaging	0.97
R4898:Pcdhga1	UTSW	18	37662354	missense	possibly damaging	0.63
R4941:Pcdhga1	UTSW	18	37662606	missense	probably benign	0.10
R5021:Pcdhga1	UTSW	18	37663823	missense	probably damaging	1.00
R5765:Pcdhga1	UTSW	18	37663661	missense	probably benign	0.31
R6176:Pcdhga1	UTSW	18	37664229	missense	probably benign	0.22
R6380:Pcdhga1	UTSW	18	37662969	missense	probably damaging	1.00
R7062:Pcdhga1	UTSW	18	37825077	missense	probably damaging	1.00
R7146:Pcdhga1	UTSW	18	37662111	missense	probably benign	0.04
R7266:Pcdhga1	UTSW	18	37839975	missense	possibly damaging	0.94
R7525:Pcdhga1	UTSW	18	37662228	missense	probably damaging	1.00
R7553:Pcdhga1	UTSW	18	37749682	splice site	probably null
R7581:Pcdhga1	UTSW	18	37662177	missense	probably damaging	1.00
R7932:Pcdhga1	UTSW	18	37663460	missense	probably damaging	1.00
R8330:Pcdhga1	UTSW	18	37663323	missense	probably benign	0.19
R8385:Pcdhga1	UTSW	18	37662096	missense	probably damaging	1.00
R8549:Pcdhga1	UTSW	18	37833333	makesense	probably null

Predicted Primers

Posted On

2017-04-14