Mutagenetix > Incidental Mutation

Incidental Mutation 'R7583:Pcdhgb1'

586929

Institutional Source

Beutler Lab

Gene Symbol

Pcdhgb1

Ensembl Gene

ENSMUSG00000103037

Gene Name

protocadherin gamma subfamily B, 1

Synonyms

MMRRC Submission

045666-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R7583 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37813325-37974923 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37815377 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 623 (R623G)

Ref Sequence

ENSEMBL: ENSMUSP00000141348 (fasta)

Gene Model

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

AlphaFold

Q91XX8

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: ENSMUST00000192931
AA Change: R623G

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000141348
Gene: ENSMUSG00000103037
AA Change: R623G

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: 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: 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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (95/96)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	T	2: 68,569,670 (GRCm39)	D462V	probably damaging	Het
Abcc1	T	C	16: 14,221,902 (GRCm39)	W222R	probably damaging	Het
Adamts13	A	G	2: 26,863,965 (GRCm39)	K48E	probably benign	Het
Adgrd1	A	C	5: 129,256,652 (GRCm39)	T674P	probably benign	Het
Agbl4	A	T	4: 110,976,150 (GRCm39)	Y169F	possibly damaging	Het
Ahnak	T	A	19: 8,983,457 (GRCm39)	N1580K	possibly damaging	Het
Angptl8	A	C	9: 21,747,210 (GRCm39)		probably null	Het
Ap3d1	G	A	10: 80,545,292 (GRCm39)	T1053I	probably benign	Het
Atad2	T	C	15: 57,990,060 (GRCm39)	T139A	probably benign	Het
Bdp1	T	A	13: 100,186,320 (GRCm39)	T1711S	probably damaging	Het
Bod1l	T	C	5: 41,991,133 (GRCm39)	I141V	probably damaging	Het
Cavin2	A	T	1: 51,328,777 (GRCm39)	N78I	possibly damaging	Het
Ccnb1	T	C	13: 100,916,262 (GRCm39)	H406R	probably benign	Het
Cd200r4	A	G	16: 44,653,784 (GRCm39)	T194A	probably damaging	Het
Cdt1	G	A	8: 123,296,995 (GRCm39)	R263H	probably damaging	Het
Cep85l	A	T	10: 53,157,450 (GRCm39)	I751N	probably damaging	Het
Clasp2	A	G	9: 113,737,755 (GRCm39)	D1043G	probably benign	Het
Cmip	A	T	8: 118,181,691 (GRCm39)	N578I	probably damaging	Het
Col2a1	T	G	15: 97,874,065 (GRCm39)	K1440N	unknown	Het
Cpne2	A	T	8: 95,282,209 (GRCm39)	M252L	probably benign	Het
Crb2	A	G	2: 37,680,607 (GRCm39)	T512A	probably benign	Het
Csmd1	A	G	8: 16,048,833 (GRCm39)	Y2290H	probably damaging	Het
Ctnnd1	A	T	2: 84,442,405 (GRCm39)	D642E	probably damaging	Het
Ctns	A	G	11: 73,079,296 (GRCm39)	S141P	probably benign	Het
Cwh43	A	G	5: 73,591,632 (GRCm39)	Q575R	probably benign	Het
Cyp2b19	C	A	7: 26,458,489 (GRCm39)	T68K	probably damaging	Het
Dcaf6	A	G	1: 165,160,879 (GRCm39)	S849P	probably damaging	Het
Dnm3	T	A	1: 162,305,343 (GRCm39)	Q17L	possibly damaging	Het
Enpp3	A	T	10: 24,711,990 (GRCm39)	M1K	probably null	Het
Fam124a	T	A	14: 62,844,008 (GRCm39)	C505*	probably null	Het
Fhip2a	T	A	19: 57,367,034 (GRCm39)	D192E	probably benign	Het
Fsip2	A	G	2: 82,805,585 (GRCm39)	I635V	probably benign	Het
Gm5878	A	T	6: 85,095,682 (GRCm39)		probably null	Het
Gpld1	C	A	13: 25,159,743 (GRCm39)	A437D	probably damaging	Het
Grk5	G	T	19: 61,071,642 (GRCm39)	V401L	possibly damaging	Het
Gucy2g	A	T	19: 55,224,047 (GRCm39)	L259Q	probably damaging	Het
Habp2	T	A	19: 56,300,236 (GRCm39)	D191E	probably benign	Het
Helz2	T	A	2: 180,879,365 (GRCm39)	H751L	probably benign	Het
Hgsnat	A	G	8: 26,461,592 (GRCm39)		probably null	Het
Hivep1	T	A	13: 42,317,716 (GRCm39)	V2064E	probably damaging	Het
Ikbke	C	T	1: 131,204,216 (GRCm39)	A26T	probably damaging	Het
Ivd	C	A	2: 118,692,612 (GRCm39)	D37E	probably damaging	Het
Kif26b	G	A	1: 178,358,010 (GRCm39)	W40*	probably null	Het
Klrc2	A	G	6: 129,636,274 (GRCm39)	S114P	probably damaging	Het
Lama1	A	T	17: 68,068,616 (GRCm39)	T772S		Het
Lamc1	T	A	1: 153,118,978 (GRCm39)	K880N	possibly damaging	Het
Lmf1	G	A	17: 25,874,423 (GRCm39)	D12N		Het
Lpin2	G	T	17: 71,538,391 (GRCm39)	E384*	probably null	Het
Lrrc23	T	C	6: 124,756,541 (GRCm39)		probably benign	Het
Lrrc31	T	C	3: 30,745,248 (GRCm39)		probably null	Het
Luc7l2	A	G	6: 38,528,820 (GRCm39)	Q13R	probably damaging	Het
Ly6c1	G	T	15: 74,920,346 (GRCm39)	H5Q	probably damaging	Het
Lyst	A	T	13: 13,810,472 (GRCm39)	H714L	probably damaging	Het
Man2a2	C	T	7: 80,016,692 (GRCm39)	R374H	probably damaging	Het
Mchr1	A	T	15: 81,121,642 (GRCm39)	T131S	probably benign	Het
Msto1	T	C	3: 88,820,236 (GRCm39)		probably null	Het
Myh1	C	T	11: 67,111,739 (GRCm39)	T1698I	probably benign	Het
Ncapd3	G	T	9: 26,983,144 (GRCm39)	C964F	probably damaging	Het
Nefh	T	C	11: 4,891,089 (GRCm39)	E510G	probably damaging	Het
Or10g3b	T	C	14: 52,587,360 (GRCm39)	T48A	possibly damaging	Het
Or13a24	A	G	7: 140,154,123 (GRCm39)	E19G	probably benign	Het
Or1b1	A	T	2: 36,995,539 (GRCm39)	L41*	probably null	Het
Or1q1	A	C	2: 36,887,092 (GRCm39)	K90T	probably damaging	Het
Or4a73	A	T	2: 89,421,095 (GRCm39)	Y121*	probably null	Het
P4ha1	T	A	10: 59,205,462 (GRCm39)	S497R	probably benign	Het
Palb2	T	C	7: 121,726,565 (GRCm39)	D435G	probably benign	Het
Papola	C	T	12: 105,777,304 (GRCm39)	P282L	probably damaging	Het
Pcolce	T	G	5: 137,605,707 (GRCm39)	K229Q	probably benign	Het
Pkhd1l1	T	C	15: 44,431,760 (GRCm39)		probably null	Het
Ppp6r3	T	A	19: 3,540,790 (GRCm39)	T443S	probably benign	Het
Pramel58	A	T	5: 94,830,753 (GRCm39)	T84S	possibly damaging	Het
Psg20	T	A	7: 18,416,408 (GRCm39)	D236V	probably damaging	Het
Ptgr2	T	G	12: 84,355,179 (GRCm39)	S304R	probably damaging	Het
Ptpn22	A	T	3: 103,809,430 (GRCm39)	D681V	probably benign	Het
Rab3gap1	T	C	1: 127,858,612 (GRCm39)	S574P	probably benign	Het
Slc36a1	A	G	11: 55,104,754 (GRCm39)		probably null	Het
Slc9a5	A	G	8: 106,089,904 (GRCm39)	S621G	possibly damaging	Het
Sntg1	A	G	1: 8,515,249 (GRCm39)		probably null	Het
Snx17	A	G	5: 31,353,877 (GRCm39)	N222D	possibly damaging	Het
Spata19	G	T	9: 27,311,729 (GRCm39)	S116I	possibly damaging	Het
Spn	G	A	7: 126,736,234 (GRCm39)	A91V	probably damaging	Het
Srrm3	T	C	5: 135,881,135 (GRCm39)	V145A	probably benign	Het
St7	A	T	6: 17,942,753 (GRCm39)	T575S	possibly damaging	Het
Taf2	A	T	15: 54,928,072 (GRCm39)	Y110*	probably null	Het
Tcf20	T	C	15: 82,739,477 (GRCm39)	E658G	possibly damaging	Het
Tdrd6	G	T	17: 43,935,129 (GRCm39)	A1973E	probably benign	Het
Tg	T	G	15: 66,636,267 (GRCm39)	L2237W	probably damaging	Het
Ticrr	C	A	7: 79,346,487 (GRCm39)	Y1882*	probably null	Het
Trim45	T	A	3: 100,832,339 (GRCm39)	C191S	probably damaging	Het
Upf3a	G	A	8: 13,835,889 (GRCm39)		probably null	Het
Vmn2r42	A	T	7: 8,197,740 (GRCm39)	L293*	probably null	Het
Vmn2r62	T	A	7: 42,437,466 (GRCm39)	Q339H	possibly damaging	Het
Wdr24	A	T	17: 26,044,804 (GRCm39)	R220W	probably null	Het
Wdr5	T	A	2: 27,408,787 (GRCm39)	S22T	probably benign	Het
Zfp37	G	A	4: 62,110,253 (GRCm39)		probably benign	Het
Zfp735	A	T	11: 73,601,933 (GRCm39)	L292F	possibly damaging	Het
Zfp985	T	A	4: 147,667,946 (GRCm39)	C271*	probably null	Het
Zranb1	G	A	7: 132,585,625 (GRCm39)	R691Q	probably benign	Het

Other mutations in Pcdhgb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT1430001:Pcdhgb1	UTSW	18	37,814,472 (GRCm39)	missense	probably damaging	1.00
R4433:Pcdhgb1	UTSW	18	37,814,304 (GRCm39)	missense	probably damaging	0.99
R4599:Pcdhgb1	UTSW	18	37,814,610 (GRCm39)	missense	probably damaging	1.00
R4974:Pcdhgb1	UTSW	18	37,815,425 (GRCm39)	missense	probably benign	0.11
R5214:Pcdhgb1	UTSW	18	37,814,478 (GRCm39)	missense	probably damaging	1.00
R5621:Pcdhgb1	UTSW	18	37,815,222 (GRCm39)	missense	possibly damaging	0.90
R5981:Pcdhgb1	UTSW	18	37,814,907 (GRCm39)	missense	probably damaging	1.00
R6593:Pcdhgb1	UTSW	18	37,815,134 (GRCm39)	missense	probably damaging	1.00
R6666:Pcdhgb1	UTSW	18	37,814,546 (GRCm39)	nonsense	probably null
R6835:Pcdhgb1	UTSW	18	37,813,553 (GRCm39)	missense	probably benign	0.02
R6992:Pcdhgb1	UTSW	18	37,814,652 (GRCm39)	missense	probably benign	0.03
R7152:Pcdhgb1	UTSW	18	37,814,854 (GRCm39)	missense	probably benign	0.38
R7512:Pcdhgb1	UTSW	18	37,815,418 (GRCm39)	missense	probably damaging	1.00
R8154:Pcdhgb1	UTSW	18	37,815,596 (GRCm39)	missense	probably damaging	0.98
R8513:Pcdhgb1	UTSW	18	37,813,581 (GRCm39)	missense	probably damaging	1.00
R8517:Pcdhgb1	UTSW	18	37,815,117 (GRCm39)	missense	possibly damaging	0.47
R8725:Pcdhgb1	UTSW	18	37,814,467 (GRCm39)	nonsense	probably null
R8997:Pcdhgb1	UTSW	18	37,814,133 (GRCm39)	missense	probably damaging	1.00
R9092:Pcdhgb1	UTSW	18	37,813,989 (GRCm39)	missense	possibly damaging	0.87
R9195:Pcdhgb1	UTSW	18	37,814,157 (GRCm39)	missense	probably damaging	0.99
R9350:Pcdhgb1	UTSW	18	37,814,705 (GRCm39)	missense	probably benign	0.00
Z1176:Pcdhgb1	UTSW	18	37,814,893 (GRCm39)	missense	probably benign	0.24
Z1177:Pcdhgb1	UTSW	18	37,815,387 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AGTGCCAATGTGAGCATGC -3'
(R):5'- TAAAACTGAAGCTCACTCTGAGG -3'

Sequencing Primer
(F):5'- GTGCTGTATCCCACACTTGAG -3'
(R):5'- GGTCAGATGGTAGAGGGTCATC -3'

Posted On

2019-10-24