Mutagenetix > Incidental Mutation

Incidental Mutation 'R7214:Pcdhgb2'

561351

Institutional Source

Beutler Lab

Gene Symbol

Pcdhgb2

Ensembl Gene

ENSMUSG00000102748

Gene Name

protocadherin gamma subfamily B, 2

Synonyms

MMRRC Submission

045286-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R7214 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37822912-37974925 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 37823159 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 50 (A50E)

Ref Sequence

ENSEMBL: ENSMUSP00000141449 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073447] [ENSMUST00000115661] [ENSMUST00000192931] [ENSMUST00000193414] [ENSMUST00000193869] [ENSMUST00000194190] [ENSMUST00000195112] [ENSMUST00000194418] [ENSMUST00000194544]

AlphaFold

Q91XX7

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 benign
Transcript: ENSMUST00000192931

SMART Domains

Protein: ENSMUSP00000141348
Gene: ENSMUSG00000103037

Domain	Start	End	E-Value	Type
CA	36	119	8e-3	SMART
CA	143	228	1.34e-20	SMART
CA	252	333	1.52e-24	SMART
CA	357	438	9.22e-24	SMART
CA	462	548	1.24e-24	SMART
CA	579	660	1.3e-9	SMART
transmembrane domain	679	701	N/A	INTRINSIC
low complexity region	899	918	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000193414

SMART Domains

Protein: ENSMUSP00000141893
Gene: ENSMUSG00000103567

Domain	Start	End	E-Value	Type
CA	45	131	2.45e-1	SMART
CA	155	240	1.05e-18	SMART
CA	264	345	6.52e-24	SMART
CA	369	450	5.99e-23	SMART
CA	474	560	6.99e-24	SMART
CA	591	669	5.31e-15	SMART
transmembrane domain	692	714	N/A	INTRINSIC
low complexity region	913	932	N/A	INTRINSIC

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 damaging
Transcript: ENSMUST00000195112
AA Change: A50E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000141449
Gene: ENSMUSG00000102748
AA Change: A50E

Domain	Start	End	E-Value	Type
CA	24	130	8.18e-3	SMART
CA	154	239	1.39e-18	SMART
CA	263	344	7.91e-23	SMART
CA	368	449	2.27e-23	SMART
CA	473	559	1.24e-24	SMART
CA	590	671	1.3e-9	SMART
transmembrane domain	690	712	N/A	INTRINSIC
low complexity region	909	928	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000194418

SMART Domains

Protein: ENSMUSP00000142140
Gene: ENSMUSG00000103677

Domain	Start	End	E-Value	Type
CA	44	130	1.64e-2	SMART
CA	154	239	3.93e-18	SMART
CA	263	344	5.22e-23	SMART
CA	368	449	5.02e-25	SMART
CA	473	559	2.07e-26	SMART
CA	590	668	6.84e-18	SMART
transmembrane domain	690	712	N/A	INTRINSIC
low complexity region	911	930	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: ENSMUST00000195163

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg5	C	T	8: 95,660,646 (GRCm39)	T95I		Het
Arap2	C	T	5: 62,906,681 (GRCm39)	V113I	probably benign	Het
Atraid	C	T	5: 31,209,590 (GRCm39)	Q85*	probably null	Het
Bcdin3d	T	C	15: 99,368,344 (GRCm39)	D285G	probably benign	Het
Bmal1	T	A	7: 112,898,610 (GRCm39)	I346K	probably benign	Het
Carmil3	T	C	14: 55,736,069 (GRCm39)	W604R	probably damaging	Het
Ccl6	C	T	11: 83,480,582 (GRCm39)		probably null	Het
Cct4	C	T	11: 22,940,616 (GRCm39)		probably benign	Het
Cd2ap	C	T	17: 43,156,285 (GRCm39)	R84Q	possibly damaging	Het
Cdt1	T	A	8: 123,295,012 (GRCm39)		probably null	Het
Cln3	C	T	7: 126,181,942 (GRCm39)	G40D	probably damaging	Het
Crlf3	T	C	11: 79,955,216 (GRCm39)	S47G	possibly damaging	Het
Csrp3	T	C	7: 48,480,385 (GRCm39)	K193R	probably benign	Het
Cxcl3	A	C	5: 90,934,219 (GRCm39)	E33A	probably damaging	Het
Cyp11b1	T	C	15: 74,708,708 (GRCm39)	D362G	probably benign	Het
Dnah2	T	C	11: 69,321,935 (GRCm39)	D3795G	probably damaging	Het
Dnah3	G	A	7: 119,521,965 (GRCm39)	A4076V	probably damaging	Het
Dnaja3	T	A	16: 4,519,046 (GRCm39)	I380N	possibly damaging	Het
Dock10	T	A	1: 80,546,246 (GRCm39)	H785L	probably benign	Het
Dop1b	T	G	16: 93,607,023 (GRCm39)	F2226V	possibly damaging	Het
Dscaml1	A	T	9: 45,581,437 (GRCm39)	I419F	probably benign	Het
Dyrk4	T	A	6: 126,862,200 (GRCm39)	I431F	probably benign	Het
Endog	C	T	2: 30,062,902 (GRCm39)	R181C	probably damaging	Het
Fam90a1a	A	T	8: 22,453,641 (GRCm39)	Y332F	probably benign	Het
Fastkd3	T	C	13: 68,737,499 (GRCm39)	I588T	probably benign	Het
Galnt9	G	A	5: 110,737,694 (GRCm39)	V217I	probably benign	Het
Gm973	A	T	1: 59,601,888 (GRCm39)	R501*	probably null	Het
Gnptab	C	T	10: 88,215,019 (GRCm39)		probably benign	Het
Gpn1	T	C	5: 31,660,761 (GRCm39)	F184S	probably damaging	Het
Imp3	G	T	9: 56,845,007 (GRCm39)	V73L	probably benign	Het
Ipo11	T	C	13: 107,032,365 (GRCm39)	D259G	probably null	Het
Jag1	T	C	2: 136,948,802 (GRCm39)	S142G	probably benign	Het
Klhl5	A	T	5: 65,289,098 (GRCm39)	E120V	probably benign	Het
Lct	C	A	1: 128,228,197 (GRCm39)	V1099L	probably benign	Het
Lrba	G	C	3: 86,235,633 (GRCm39)	W912C	probably damaging	Het
Lss	C	T	10: 76,383,305 (GRCm39)	T535I	probably damaging	Het
Mcts2	T	C	2: 152,529,297 (GRCm39)	I36T	probably benign	Het
Meikin	T	A	11: 54,302,738 (GRCm39)	N383K	probably benign	Het
Myo1g	T	C	11: 6,461,055 (GRCm39)	Y663C	probably damaging	Het
Nadk2	T	A	15: 9,108,342 (GRCm39)	M419K	probably damaging	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nfat5	T	C	8: 108,020,515 (GRCm39)	S20P	probably damaging	Het
Nlrp1a	C	T	11: 71,014,119 (GRCm39)	C377Y	probably damaging	Het
Nlrp9a	T	C	7: 26,250,463 (GRCm39)	V76A	probably damaging	Het
Nrap	C	A	19: 56,366,567 (GRCm39)	A341S	probably benign	Het
Ntng2	T	C	2: 29,117,732 (GRCm39)	S239G	probably damaging	Het
Nup188	T	A	2: 30,197,566 (GRCm39)	C207S	possibly damaging	Het
Or10a4	T	C	7: 106,697,619 (GRCm39)	*316R	probably null	Het
Or10ak7	T	A	4: 118,791,146 (GRCm39)	I300F	possibly damaging	Het
Or1j17	T	C	2: 36,578,107 (GRCm39)	I31T	probably benign	Het
Or2ag1	T	C	7: 106,473,474 (GRCm39)		probably benign	Het
Or5b118	T	A	19: 13,448,337 (GRCm39)	M1K	probably null	Het
Or8c13	A	C	9: 38,091,318 (GRCm39)	V267G	probably damaging	Het
Or8k31-ps1	C	T	2: 86,356,150 (GRCm39)	V124I	probably damaging	Het
Pgap1	A	T	1: 54,582,220 (GRCm39)	M209K	possibly damaging	Het
Plbd1	T	A	6: 136,589,829 (GRCm39)	D463V	probably damaging	Het
Plcg2	T	A	8: 118,310,288 (GRCm39)	I380N	probably damaging	Het
Pnpt1	T	C	11: 29,087,285 (GRCm39)	W184R	probably damaging	Het
Pptc7	G	A	5: 122,451,840 (GRCm39)	V202I	probably benign	Het
Prpf6	C	T	2: 181,282,389 (GRCm39)	A510V	probably damaging	Het
Prr5l	T	C	2: 101,559,777 (GRCm39)	Y235C	probably benign	Het
Ptprk	T	C	10: 28,450,905 (GRCm39)	V1022A	probably benign	Het
Rbl2	T	C	8: 91,810,057 (GRCm39)		probably null	Het
Rmnd1	T	C	10: 4,360,753 (GRCm39)	K348E	probably benign	Het
Rsf1	CGGCGGC	CGGCGGCGGGGGCGGC	7: 97,229,136 (GRCm39)		probably benign	Het
Sacs	T	A	14: 61,429,241 (GRCm39)	N433K	probably benign	Het
Scyl1	T	C	19: 5,810,057 (GRCm39)	T590A	probably benign	Het
Sdhd	A	G	9: 50,508,533 (GRCm39)	V111A	possibly damaging	Het
Sec24b	G	T	3: 129,827,509 (GRCm39)	P330Q	probably benign	Het
Serpinb6d	C	T	13: 33,848,128 (GRCm39)	P31S	probably damaging	Het
Slc26a9	A	T	1: 131,687,211 (GRCm39)	R457W	probably damaging	Het
Slc5a8	G	A	10: 88,755,364 (GRCm39)	M490I	probably benign	Het
Slx4	A	G	16: 3,806,844 (GRCm39)	I533T	probably benign	Het
Slx4ip	T	A	2: 136,888,650 (GRCm39)	F110L	probably benign	Het
Smchd1	T	C	17: 71,652,359 (GRCm39)	R2000G	probably benign	Het
Snx8	T	C	5: 140,346,008 (GRCm39)	E75G	possibly damaging	Het
Stab2	C	A	10: 86,735,705 (GRCm39)	C1292F	probably damaging	Het
Swt1	A	T	1: 151,270,364 (GRCm39)	M617K	possibly damaging	Het
Thoc2l	A	G	5: 104,670,229 (GRCm39)	T1584A	probably benign	Het
Tiam2	T	A	17: 3,568,687 (GRCm39)	I1611N	possibly damaging	Het
Tmem63b	T	G	17: 45,972,748 (GRCm39)	N682T	probably benign	Het
Trio	C	T	15: 27,871,273 (GRCm39)	V674M	probably damaging	Het
Trpc3	G	A	3: 36,704,286 (GRCm39)	T557M	possibly damaging	Het
Vac14	T	G	8: 111,397,674 (GRCm39)	L463R	probably damaging	Het
Vmn2r43	C	T	7: 8,256,379 (GRCm39)		probably null	Het
Wdr49	A	T	3: 75,265,751 (GRCm39)	Y232N	possibly damaging	Het
Wdr90	T	C	17: 26,064,367 (GRCm39)	M1835V	probably benign	Het
Xpc	T	C	6: 91,469,320 (GRCm39)	E809G	probably damaging	Het
Zfhx3	A	T	8: 109,675,493 (GRCm39)	Q2181L	probably damaging	Het
Zfp442	T	C	2: 150,251,201 (GRCm39)	T234A	probably benign	Het
Zfp764	A	T	7: 127,004,450 (GRCm39)	M227K	probably benign	Het
Zfp764l1	A	G	7: 126,990,695 (GRCm39)	S431P	probably benign	Het
Zfp957	A	G	14: 79,450,750 (GRCm39)	S350P	unknown	Het
Zscan29	T	A	2: 120,999,761 (GRCm39)	K147*	probably null	Het

Other mutations in Pcdhgb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2906:Pcdhgb2	UTSW	18	37,823,908 (GRCm39)	missense	probably damaging	1.00
R3081:Pcdhgb2	UTSW	18	37,824,566 (GRCm39)	missense	probably damaging	1.00
R3780:Pcdhgb2	UTSW	18	37,824,810 (GRCm39)	missense	probably damaging	1.00
R4095:Pcdhgb2	UTSW	18	37,824,003 (GRCm39)	missense	probably benign	0.01
R4258:Pcdhgb2	UTSW	18	37,825,102 (GRCm39)	missense	probably damaging	1.00
R4261:Pcdhgb2	UTSW	18	37,824,950 (GRCm39)	missense	probably damaging	1.00
R4695:Pcdhgb2	UTSW	18	37,825,375 (GRCm39)	missense	probably benign	0.00
R4741:Pcdhgb2	UTSW	18	37,824,737 (GRCm39)	splice site	probably null
R4824:Pcdhgb2	UTSW	18	37,823,502 (GRCm39)	missense	probably damaging	1.00
R4852:Pcdhgb2	UTSW	18	37,825,103 (GRCm39)	missense	probably damaging	1.00
R4858:Pcdhgb2	UTSW	18	37,825,153 (GRCm39)	missense	probably benign	0.22
R4933:Pcdhgb2	UTSW	18	37,825,267 (GRCm39)	missense	probably benign	0.07
R5240:Pcdhgb2	UTSW	18	37,824,103 (GRCm39)	missense	possibly damaging	0.87
R5791:Pcdhgb2	UTSW	18	37,825,393 (GRCm39)	missense	possibly damaging	0.92
R5973:Pcdhgb2	UTSW	18	37,823,560 (GRCm39)	missense	probably benign	0.00
R6059:Pcdhgb2	UTSW	18	37,823,078 (GRCm39)	nonsense	probably null
R6217:Pcdhgb2	UTSW	18	37,823,054 (GRCm39)	missense	possibly damaging	0.71
R6903:Pcdhgb2	UTSW	18	37,825,223 (GRCm39)	missense	possibly damaging	0.94
R6953:Pcdhgb2	UTSW	18	37,823,807 (GRCm39)	missense	possibly damaging	0.95
R7150:Pcdhgb2	UTSW	18	37,825,300 (GRCm39)	missense	possibly damaging	0.89
R7453:Pcdhgb2	UTSW	18	37,824,068 (GRCm39)	missense	probably damaging	0.96
R7728:Pcdhgb2	UTSW	18	37,824,260 (GRCm39)	missense	probably damaging	1.00
R7754:Pcdhgb2	UTSW	18	37,823,023 (GRCm39)	missense	probably benign	0.23
R7846:Pcdhgb2	UTSW	18	37,825,273 (GRCm39)	missense	possibly damaging	0.88
R8001:Pcdhgb2	UTSW	18	37,823,687 (GRCm39)	missense	probably benign	0.06
R8079:Pcdhgb2	UTSW	18	37,823,816 (GRCm39)	missense	probably damaging	1.00
R8438:Pcdhgb2	UTSW	18	37,825,232 (GRCm39)	missense	probably benign	0.20
R8873:Pcdhgb2	UTSW	18	37,824,341 (GRCm39)	missense	probably damaging	0.98
R9655:Pcdhgb2	UTSW	18	37,823,285 (GRCm39)	missense	probably damaging	1.00
Z1177:Pcdhgb2	UTSW	18	37,825,201 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGTGGCCCTAGGAGGATTTG -3'
(R):5'- CGTTGTCGTTCACATCCTGAAG -3'

Sequencing Primer
(F):5'- TAGGAGGATTTGGCCACCCTC -3'
(R):5'- CATCCTGAAGAATTACAGCTACGTGG -3'

Posted On

2019-06-26