Mutagenetix > Incidental Mutation

Incidental Mutation 'R7899:Pcdhga2'

609920

Institutional Source

Beutler Lab

Gene Symbol

Pcdhga2

Ensembl Gene

ENSMUSG00000103332

Gene Name

protocadherin gamma subfamily A, 2

Synonyms

MMRRC Submission

045951-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R7899 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37802006-37974923 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 37803910 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 585 (G585R)

Ref Sequence

ENSEMBL: ENSMUSP00000141482 (fasta)

Gene Model

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

AlphaFold

Q91XY6

Predicted Effect

probably benign
Transcript: ENSMUST00000073447

SMART Domains

Protein: ENSMUSP00000073150
Gene: ENSMUSG00000104346

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 damaging
Transcript: ENSMUST00000193869
AA Change: G585R

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

SMART Domains

Protein: ENSMUSP00000141482
Gene: ENSMUSG00000103332
AA Change: G585R

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

Meta Mutation Damage Score

0.7167

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

97% (70/72)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500011B03Rik	T	C	5: 114,947,381 (GRCm39)	T49A	possibly damaging	Het
A530084C06Rik	G	T	13: 31,742,978 (GRCm39)	R92S	unknown	Het
Aagab	T	C	9: 63,524,132 (GRCm39)	F80L	probably benign	Het
Aox1	A	G	1: 58,320,396 (GRCm39)		probably null	Het
Arhgef2	T	C	3: 88,528,569 (GRCm39)	S2P	probably damaging	Het
Bcar3	T	G	3: 122,301,902 (GRCm39)	V199G	probably damaging	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Cacna1a	G	A	8: 85,320,802 (GRCm39)	V1587M	possibly damaging	Het
Caps2	C	A	10: 112,001,666 (GRCm39)	S19Y	possibly damaging	Het
Ccdc196	A	G	12: 78,244,196 (GRCm39)	N50D		Het
Cep89	G	A	7: 35,129,353 (GRCm39)	R630H	probably damaging	Het
Cobll1	A	G	2: 64,956,275 (GRCm39)	C328R	probably damaging	Het
Colec11	A	C	12: 28,645,281 (GRCm39)	V130G	probably damaging	Het
Dennd5b	A	T	6: 148,943,159 (GRCm39)	D572E	probably damaging	Het
Dido1	A	T	2: 180,313,390 (GRCm39)	S961T	possibly damaging	Het
Dnah7c	A	T	1: 46,553,861 (GRCm39)	M380L	probably benign	Het
Dnai2	T	C	11: 114,629,456 (GRCm39)	I161T	probably benign	Het
Dnttip2	T	A	3: 122,076,018 (GRCm39)	M650K	probably damaging	Het
Dpp6	C	T	5: 27,926,077 (GRCm39)	P717L	probably benign	Het
Epha10	A	G	4: 124,808,628 (GRCm39)	E759G		Het
Frmd4a	T	C	2: 4,608,900 (GRCm39)	W923R	probably damaging	Het
Ftsj3	C	A	11: 106,143,115 (GRCm39)	E400*	probably null	Het
Gabra4	C	A	5: 71,815,338 (GRCm39)		probably benign	Het
Gfm1	T	A	3: 67,380,860 (GRCm39)	N658K	probably benign	Het
Gm21560	A	T	14: 6,218,220 (GRCm38)	I86N	probably damaging	Het
Gpr68	C	A	12: 100,844,707 (GRCm39)	C279F	probably damaging	Het
Hspg2	G	A	4: 137,275,427 (GRCm39)	A2752T	possibly damaging	Het
Hydin	A	T	8: 111,314,380 (GRCm39)	D4288V	probably benign	Het
Ift74	A	G	4: 94,510,214 (GRCm39)	T82A	possibly damaging	Het
Ints7	T	A	1: 191,353,427 (GRCm39)	W918R	probably damaging	Het
Kcnc1	T	A	7: 46,077,245 (GRCm39)	I349N	probably damaging	Het
Loxl1	C	T	9: 58,198,117 (GRCm39)	D580N	probably damaging	Het
Mlph	A	T	1: 90,869,485 (GRCm39)	R496*	probably null	Het
Mtdh	A	G	15: 34,123,865 (GRCm39)	D364G	possibly damaging	Het
Mtmr11	C	A	3: 96,077,744 (GRCm39)	L580I	probably damaging	Het
Muc16	T	C	9: 18,551,993 (GRCm39)	I4767V	probably benign	Het
Muc21	TCAGGGTGGGGGTAGAGCCTGAGCCACTGCTAGATGCAGTGGTGGGCAGGGTGGGGGTAGAGCCTGAG	TCAGGGTGGGGGTAGAGCCTGAG	17: 35,931,493 (GRCm39)		probably benign	Het
Myot	A	G	18: 44,487,251 (GRCm39)	T363A	probably benign	Het
Nfxl1	G	A	5: 72,681,558 (GRCm39)	P658S	probably damaging	Het
Nhlrc3	A	C	3: 53,369,080 (GRCm39)	S120A	probably benign	Het
Nmur2	C	A	11: 55,931,161 (GRCm39)	Q183H	probably benign	Het
Nucb2	T	A	7: 116,121,205 (GRCm39)	I45K	probably benign	Het
Nup155	A	T	15: 8,148,663 (GRCm39)	D277V	probably damaging	Het
Or5ak25	T	C	2: 85,268,741 (GRCm39)	T254A	probably benign	Het
Orc1	T	G	4: 108,460,568 (GRCm39)		probably null	Het
Panx2	A	G	15: 88,952,936 (GRCm39)	T468A	possibly damaging	Het
Pcdh7	A	G	5: 57,877,152 (GRCm39)	S236G	probably benign	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,302,525 (GRCm39)		probably benign	Het
Pgr	T	G	9: 8,903,743 (GRCm39)	M588R	probably benign	Het
Ptpn18	A	T	1: 34,508,986 (GRCm39)		probably null	Het
Rbm8a2	T	A	1: 175,806,207 (GRCm39)	H90L	probably benign	Het
Ryr3	A	T	2: 112,477,295 (GRCm39)	L4507Q	possibly damaging	Het
Serpina12	A	G	12: 104,004,524 (GRCm39)	V36A	probably benign	Het
Sis	T	A	3: 72,844,584 (GRCm39)	S717C	probably damaging	Het
Slit2	A	G	5: 48,404,527 (GRCm39)	E846G	possibly damaging	Het
Smr3a	C	T	5: 88,156,086 (GRCm39)	H85Y	unknown	Het
Sned1	G	C	1: 93,201,804 (GRCm39)	R590P	probably benign	Het
Spata31h1	A	G	10: 82,118,731 (GRCm39)	S4760P	unknown	Het
Sting1	A	G	18: 35,867,626 (GRCm39)	S357P	probably damaging	Het
Sult2a7	A	G	7: 14,199,134 (GRCm39)	Y298H	probably damaging	Het
Syn3	A	G	10: 85,900,793 (GRCm39)	V365A	possibly damaging	Het
Syne1	A	T	10: 5,177,956 (GRCm39)	Y4839*	probably null	Het
Taf4	G	A	2: 179,573,822 (GRCm39)	T682M	probably damaging	Het
Tbl3	G	T	17: 24,921,458 (GRCm39)	H478N	probably damaging	Het
Tcirg1	A	T	19: 3,949,104 (GRCm39)	I395N	probably damaging	Het
Ticrr	T	C	7: 79,319,233 (GRCm39)	I406T	probably benign	Het
Tmem120a	C	A	5: 135,766,052 (GRCm39)	K123N	probably benign	Het
Tmem184c	A	G	8: 78,324,440 (GRCm39)	V350A	probably damaging	Het
Tmem70	G	T	1: 16,747,268 (GRCm39)	M128I	probably benign	Het
Tmx3	A	T	18: 90,545,998 (GRCm39)		probably null	Het
Topors	G	C	4: 40,260,356 (GRCm39)	S976W	unknown	Het
Trp53	T	C	11: 69,481,519 (GRCm39)	L341P	probably damaging	Het
Usp14	T	C	18: 10,000,563 (GRCm39)	K366E	possibly damaging	Het
Zbtb49	G	T	5: 38,371,274 (GRCm39)	C202*	probably null	Het
Zkscan5	A	C	5: 145,157,676 (GRCm39)	H726P	probably damaging	Het

Other mutations in Pcdhga2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4132:Pcdhga2	UTSW	18	37,803,107 (GRCm39)	missense	possibly damaging	0.83
R4577:Pcdhga2	UTSW	18	37,802,302 (GRCm39)	missense	possibly damaging	0.78
R4792:Pcdhga2	UTSW	18	37,802,452 (GRCm39)	missense	probably benign	0.02
R4904:Pcdhga2	UTSW	18	37,802,932 (GRCm39)	missense	possibly damaging	0.89
R4982:Pcdhga2	UTSW	18	37,802,476 (GRCm39)	missense	probably benign	0.07
R5230:Pcdhga2	UTSW	18	37,802,795 (GRCm39)	missense	probably benign	0.23
R5502:Pcdhga2	UTSW	18	37,803,605 (GRCm39)	missense	possibly damaging	0.91
R6112:Pcdhga2	UTSW	18	37,802,612 (GRCm39)	missense	probably damaging	0.97
R6344:Pcdhga2	UTSW	18	37,803,815 (GRCm39)	missense	probably benign	0.42
R6362:Pcdhga2	UTSW	18	37,803,958 (GRCm39)	missense	probably damaging	1.00
R6835:Pcdhga2	UTSW	18	37,803,842 (GRCm39)	missense	probably damaging	1.00
R6925:Pcdhga2	UTSW	18	37,803,638 (GRCm39)	missense	probably damaging	0.98
R6927:Pcdhga2	UTSW	18	37,803,719 (GRCm39)	missense	probably damaging	1.00
R7153:Pcdhga2	UTSW	18	37,802,261 (GRCm39)	missense	probably damaging	1.00
R7486:Pcdhga2	UTSW	18	37,803,461 (GRCm39)	missense	probably benign	0.01
R7657:Pcdhga2	UTSW	18	37,803,481 (GRCm39)	missense	probably damaging	1.00
R7708:Pcdhga2	UTSW	18	37,804,496 (GRCm39)	missense	possibly damaging	0.93
R7720:Pcdhga2	UTSW	18	37,802,993 (GRCm39)	missense	probably damaging	1.00
R8416:Pcdhga2	UTSW	18	37,803,178 (GRCm39)	missense	probably damaging	1.00
R8528:Pcdhga2	UTSW	18	37,802,221 (GRCm39)	missense	probably benign	0.01
R8744:Pcdhga2	UTSW	18	37,804,373 (GRCm39)	missense	probably benign	0.17
R9043:Pcdhga2	UTSW	18	37,802,963 (GRCm39)	missense	possibly damaging	0.75
R9189:Pcdhga2	UTSW	18	37,802,795 (GRCm39)	missense	possibly damaging	0.57
R9197:Pcdhga2	UTSW	18	37,804,553 (GRCm39)	missense	probably benign	0.01
R9404:Pcdhga2	UTSW	18	37,803,067 (GRCm39)	missense	probably benign
Z1177:Pcdhga2	UTSW	18	37,803,908 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GACACTGGAGTCCTCTATGC -3'
(R):5'- ACCAGGCTTTGTTTCAGAGC -3'

Sequencing Primer
(F):5'- TGAGCAGTTCCAAGACTTGC -3'
(R):5'- AGAGCGTCTCTGTCCAGCAG -3'

Posted On

2019-12-20