Mutagenetix > Incidental Mutation

Incidental Mutation 'R7153:Pcdhga2'

554295

Institutional Source

Beutler Lab

Gene Symbol

Pcdhga2

Ensembl Gene

ENSMUSG00000103332

Gene Name

protocadherin gamma subfamily A, 2

Synonyms

MMRRC Submission

045255-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R7153 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37802006-37974923 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37802261 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 35 (V35A)

Ref Sequence

ENSEMBL: ENSMUSP00000141482 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115661] [ENSMUST00000193869] [ENSMUST00000194190] [ENSMUST00000194544] [ENSMUST00000194888]

AlphaFold

Q91XY6

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: V35A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000141482
Gene: ENSMUSG00000103332
AA Change: V35A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000194888

SMART Domains

Protein: ENSMUSP00000141367
Gene: ENSMUSG00000103144

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

Validation Efficiency

100% (75/75)

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
Ano2	A	G	6: 125,969,906 (GRCm39)	T741A	possibly damaging	Het
Aox4	T	C	1: 58,289,378 (GRCm39)	M767T	probably damaging	Het
Arhgap39	C	A	15: 76,649,691 (GRCm39)	S27I	probably benign	Het
AU018091	T	A	7: 3,209,353 (GRCm39)	M296L	probably benign	Het
Axin1	A	G	17: 26,406,942 (GRCm39)	T512A	probably benign	Het
B4galnt3	A	T	6: 120,191,929 (GRCm39)	D602E	probably benign	Het
Bcl6	G	A	16: 23,784,976 (GRCm39)	R675*	probably null	Het
Bsnd	A	T	4: 106,349,230 (GRCm39)	D3E	probably benign	Het
Btbd18	C	T	2: 84,496,772 (GRCm39)	R137*	probably null	Het
C2cd5	A	G	6: 142,965,135 (GRCm39)	S871P	probably benign	Het
Cobl	G	T	11: 12,204,128 (GRCm39)	P858Q	probably damaging	Het
Col6a1	C	T	10: 76,546,175 (GRCm39)		probably null	Het
Crb2	A	T	2: 37,677,420 (GRCm39)	H304L	probably benign	Het
Crybg1	T	A	10: 43,840,662 (GRCm39)	Y1812F	possibly damaging	Het
Ddx60	A	T	8: 62,441,142 (GRCm39)	K1070N	possibly damaging	Het
Defb22	T	C	2: 152,327,840 (GRCm39)	K115R	unknown	Het
Dhx8	C	T	11: 101,631,001 (GRCm39)		probably null	Het
Dnah5	T	A	15: 28,365,668 (GRCm39)		probably null	Het
Dnah7b	T	A	1: 46,165,964 (GRCm39)	F543Y	probably benign	Het
Ehhadh	A	G	16: 21,585,071 (GRCm39)	F270S	probably damaging	Het
Esyt2	A	G	12: 116,310,128 (GRCm39)	M397V	probably benign	Het
Fanca	A	T	8: 124,043,164 (GRCm39)	L74H	probably damaging	Het
Fbxl17	C	A	17: 63,367,346 (GRCm39)	V676F	probably benign	Het
Fndc1	A	G	17: 8,020,477 (GRCm39)	V102A	probably damaging	Het
Gpalpp1	T	C	14: 76,332,451 (GRCm39)	Y273C	probably damaging	Het
Gpatch8	TTCCTCCTCCTCCTCTTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC	11: 102,371,014 (GRCm39)		probably benign	Het
Grik2	T	C	10: 49,411,463 (GRCm39)	H225R	probably benign	Het
Helz2	A	T	2: 180,873,078 (GRCm39)	S2411T	probably benign	Het
Hnmt	C	T	2: 23,904,353 (GRCm39)	A103T	probably damaging	Het
Ighv15-2	G	T	12: 114,528,210 (GRCm39)	Y114*	probably null	Het
Irak2	A	G	6: 113,655,670 (GRCm39)	H357R	probably benign	Het
Kcp	T	C	6: 29,499,014 (GRCm39)	E320G	probably damaging	Het
Kpna4	A	G	3: 68,997,131 (GRCm39)	L352S	probably damaging	Het
Krt36	G	A	11: 99,995,972 (GRCm39)	Q151*	probably null	Het
Krt77	G	A	15: 101,773,931 (GRCm39)	T241M	probably benign	Het
Lca5l	T	A	16: 95,975,009 (GRCm39)	N305I	probably damaging	Het
Lefty1	T	A	1: 180,765,332 (GRCm39)	L300Q	probably benign	Het
Mertk	A	G	2: 128,578,569 (GRCm39)	Y185C	probably damaging	Het
Mmp14	T	C	14: 54,673,708 (GRCm39)	I124T	possibly damaging	Het
Nlrc4	T	C	17: 74,754,098 (GRCm39)	E95G	possibly damaging	Het
Npc1	A	G	18: 12,346,348 (GRCm39)	F283L	possibly damaging	Het
Or4k38	A	T	2: 111,166,246 (GRCm39)	M59K	probably damaging	Het
Or4p19	A	C	2: 88,242,462 (GRCm39)	L180W	probably damaging	Het
Pcdha11	T	C	18: 37,144,278 (GRCm39)	V123A	probably damaging	Het
Pgd	G	T	4: 149,246,135 (GRCm39)	T94K	probably benign	Het
Pik3c2a	T	C	7: 115,941,487 (GRCm39)	N1593S	probably damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Plcb3	A	G	19: 6,935,452 (GRCm39)		probably null	Het
Prkd3	C	T	17: 79,273,784 (GRCm39)	D491N	probably benign	Het
Ptprf	T	C	4: 118,088,740 (GRCm39)	T688A	probably damaging	Het
Pycr2	T	A	1: 180,734,247 (GRCm39)	L210M	probably damaging	Het
Rpl36	T	C	17: 56,921,137 (GRCm39)	I81T	probably benign	Het
Rraga	C	T	4: 86,494,253 (GRCm39)	A33V	probably damaging	Het
Slc29a1	G	A	17: 45,896,688 (GRCm39)	A429V	probably damaging	Het
Stab1	T	G	14: 30,882,541 (GRCm39)	E432A	probably benign	Het
Synj1	C	T	16: 90,744,978 (GRCm39)	G1189R	probably benign	Het
Synpo2	A	G	3: 122,906,053 (GRCm39)	*1088Q	probably null	Het
Tbc1d21	T	C	9: 58,270,376 (GRCm39)	D133G	probably damaging	Het
Tenm2	A	G	11: 35,915,009 (GRCm39)	V2176A	probably damaging	Het
Tff1	A	G	17: 31,381,772 (GRCm39)	I35T	probably benign	Het
Thnsl1	T	C	2: 21,217,764 (GRCm39)	V506A	possibly damaging	Het
Timm10b	A	G	7: 105,290,087 (GRCm39)	Q50R	unknown	Het
Tjp2	A	T	19: 24,079,345 (GRCm39)	N843K	probably benign	Het
Tle1	A	T	4: 72,057,298 (GRCm39)	F101I	probably benign	Het
Tmem225	T	C	9: 40,059,664 (GRCm39)	F15L	probably benign	Het
Trav12-3	T	C	14: 53,859,618 (GRCm39)	L88P	probably benign	Het
Ttc7b	A	T	12: 100,321,293 (GRCm39)	W613R	probably damaging	Het
Ttn	T	A	2: 76,608,848 (GRCm39)	M17723L	probably benign	Het
Ttn	T	C	2: 76,775,660 (GRCm39)	D1840G	unknown	Het
Tubgcp2	T	C	7: 139,580,949 (GRCm39)	H668R	probably benign	Het
Ush2a	C	A	1: 188,460,681 (GRCm39)	N2647K	possibly damaging	Het
Vmn1r14	C	T	6: 57,210,851 (GRCm39)	S143F	probably benign	Het
Vmn2r70	A	G	7: 85,214,262 (GRCm39)	S297P	probably damaging	Het
Ywhab	T	C	2: 163,855,980 (GRCm39)	F119L	probably damaging	Het
Zmym2	T	A	14: 57,187,659 (GRCm39)	D1108E	probably benign	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
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
R7899:Pcdhga2	UTSW	18	37,803,910 (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'- ACTGCTGGTGTTCTCAGACC -3'
(R):5'- AGTTCACCAAACAGGGCGTG -3'

Sequencing Primer
(F):5'- TCTCAGACCCTGGGAGATAC -3'
(R):5'- CGCACAGCTCCTCCCTG -3'

Posted On

2019-05-15