Mutagenetix > Incidental Mutations

Incidental Mutation 'R5240:Pcdhgb2'

400779

Institutional Source

Beutler Lab

Gene Symbol

Pcdhgb2

Ensembl Gene

ENSMUSG00000102748

Gene Name

protocadherin gamma subfamily B, 2

Synonyms

MMRRC Submission

042811-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R5240 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37689828-37841873 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 37691050 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 365 (I365L)

Ref Sequence

ENSEMBL: ENSMUSP00000141449 (fasta)

Gene Model

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

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

noncoding transcript
Transcript: ENSMUST00000193631

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

possibly damaging
Transcript: ENSMUST00000195112
AA Change: I365L

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000141449
Gene: ENSMUSG00000102748
AA Change: I365L

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: ENSMUST00000195163

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195624

Meta Mutation Damage Score

0.2646

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

100% (69/69)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cdc42bpg	T	G	19: 6,315,899	L786R	probably damaging	Het
Cfap73	C	T	5: 120,629,707	V260I	probably damaging	Het
Chchd10	A	T	10: 75,937,449	N131I	probably damaging	Het
Chn2	T	C	6: 54,220,695	V190A	probably benign	Het
Clec2l	C	T	6: 38,673,452	T64I	probably damaging	Het
Cpeb3	T	A	19: 37,174,515	T154S	probably damaging	Het
D130043K22Rik	A	G	13: 24,877,977	E643G	probably damaging	Het
Ddx31	A	G	2: 28,846,030	M127V	probably benign	Het
Dennd1b	A	G	1: 139,062,877	Y193C	probably damaging	Het
Dgke	T	A	11: 89,050,685	D288V	probably damaging	Het
Dst	T	A	1: 34,208,558	L1683*	probably null	Het
Dupd1	G	A	14: 21,677,023	R186W	probably benign	Het
E130116L18Rik	G	T	5: 25,223,020		probably benign	Het
Eif2b5	G	A	16: 20,501,398	V115I	possibly damaging	Het
Fchsd1	C	T	18: 37,959,873		probably benign	Het
Fgfr3	A	T	5: 33,730,038	T234S	probably damaging	Het
Gipc2	A	T	3: 152,102,662	D251E	possibly damaging	Het
Gm11787	A	C	4: 3,511,810		noncoding transcript	Het
Gm5538	A	C	3: 59,752,028	T301P	probably damaging	Het
Haus6	A	G	4: 86,583,178	Y819H	possibly damaging	Het
Homez	G	A	14: 54,858,074	A59V	probably damaging	Het
Iffo1	T	C	6: 125,152,460	V363A	probably benign	Het
Ifit2	T	A	19: 34,574,396	D445E	probably benign	Het
Ipo9	A	C	1: 135,389,606		probably benign	Het
Kcnv1	C	T	15: 45,113,244	G216R	probably damaging	Het
Kdm6b	A	C	11: 69,401,904		probably benign	Het
Mplkip	T	C	13: 17,695,719	S79P	probably damaging	Het
Nae1	T	C	8: 104,523,144		probably benign	Het
Nfe2l2	A	T	2: 75,676,009	N582K	possibly damaging	Het
Nsmce4a	G	A	7: 130,537,024	R297C	probably damaging	Het
Olfr397	T	C	11: 73,964,806	L66P	probably damaging	Het
Olfr411	T	A	11: 74,347,242	D114V	probably damaging	Het
Olfr495	A	T	7: 108,395,702	D194V	probably damaging	Het
Osbp	T	A	19: 11,978,290	F357I	probably damaging	Het
Pcdhb4	A	G	18: 37,309,926	D763G	possibly damaging	Het
Pde6g	A	G	11: 120,448,086		probably benign	Het
Pigo	C	A	4: 43,020,675	V756L	possibly damaging	Het
Pkhd1	G	T	1: 20,275,641	T2721K	probably benign	Het
Pls1	A	T	9: 95,776,622		probably null	Het
Prim2	A	G	1: 33,480,316		probably benign	Het
Prkd2	T	A	7: 16,855,786	I471N	probably benign	Het
Prrc2b	C	T	2: 32,206,396	T593I	probably benign	Het
Ptch2	C	A	4: 117,106,138		probably benign	Het
Pth	A	T	7: 113,385,844	D107E	probably damaging	Het
Pycr2	A	C	1: 180,907,623	Q315P	probably benign	Het
Rbpj	A	T	5: 53,649,440	Y209F	probably damaging	Het
Ripk4	C	A	16: 97,743,767	R560L	probably damaging	Het
Sdr42e1	T	C	8: 117,663,282	R207G	probably benign	Het
Sipa1l1	A	G	12: 82,341,588	Y196C	possibly damaging	Het
Smarcc2	T	C	10: 128,481,006		probably null	Het
Stom	T	A	2: 35,336,877	I15F	probably benign	Het
Sugp2	G	T	8: 70,243,275	L299F	probably benign	Het
Tbrg4	A	T	11: 6,617,516		probably null	Het
Tkt	G	T	14: 30,565,678	G210C	probably damaging	Het
Tmem163	G	A	1: 127,491,552		probably benign	Het
Trip12	A	G	1: 84,794,133	I98T	probably benign	Het
Unc5b	A	G	10: 60,774,640	I466T	probably damaging	Het
Unc79	T	A	12: 103,070,751	F599L	probably damaging	Het
Vav1	G	A	17: 57,297,122	E151K	probably damaging	Het
Vcan	T	G	13: 89,692,532	D1631A	probably benign	Het
Vmn2r4	A	C	3: 64,406,937	S208A	possibly damaging	Het
Zfp619	A	G	7: 39,537,218	T891A	possibly damaging	Het
Zfp672	A	G	11: 58,329,701		probably benign	Het
Znhit1	T	A	5: 136,982,381		probably null	Het

Other mutations in Pcdhgb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2906:Pcdhgb2	UTSW	18	37690855	missense	probably damaging	1.00
R3081:Pcdhgb2	UTSW	18	37691513	missense	probably damaging	1.00
R3780:Pcdhgb2	UTSW	18	37691757	missense	probably damaging	1.00
R4095:Pcdhgb2	UTSW	18	37690950	missense	probably benign	0.01
R4258:Pcdhgb2	UTSW	18	37692049	missense	probably damaging	1.00
R4261:Pcdhgb2	UTSW	18	37691897	missense	probably damaging	1.00
R4695:Pcdhgb2	UTSW	18	37692322	missense	probably benign	0.00
R4741:Pcdhgb2	UTSW	18	37691684	splice site	probably null
R4824:Pcdhgb2	UTSW	18	37690449	missense	probably damaging	1.00
R4852:Pcdhgb2	UTSW	18	37692050	missense	probably damaging	1.00
R4858:Pcdhgb2	UTSW	18	37692100	missense	probably benign	0.22
R4933:Pcdhgb2	UTSW	18	37692214	missense	probably benign	0.07
R5791:Pcdhgb2	UTSW	18	37692340	missense	possibly damaging	0.92
R5973:Pcdhgb2	UTSW	18	37690507	missense	probably benign	0.00
R6059:Pcdhgb2	UTSW	18	37690025	nonsense	probably null
R6217:Pcdhgb2	UTSW	18	37690001	missense	possibly damaging	0.71
R6903:Pcdhgb2	UTSW	18	37692170	missense	possibly damaging	0.94
R6953:Pcdhgb2	UTSW	18	37690754	missense	possibly damaging	0.95
R7150:Pcdhgb2	UTSW	18	37692247	missense	possibly damaging	0.89
R7214:Pcdhgb2	UTSW	18	37690106	missense	probably damaging	1.00
R7453:Pcdhgb2	UTSW	18	37691015	missense	probably damaging	0.96
R7728:Pcdhgb2	UTSW	18	37691207	missense	probably damaging	1.00
R7754:Pcdhgb2	UTSW	18	37689970	missense	probably benign	0.23
R7846:Pcdhgb2	UTSW	18	37692220	missense	possibly damaging	0.88
R8001:Pcdhgb2	UTSW	18	37690634	missense	probably benign	0.06
R8079:Pcdhgb2	UTSW	18	37690763	missense	probably damaging	1.00
R8438:Pcdhgb2	UTSW	18	37692179	missense	probably benign	0.20
Z1177:Pcdhgb2	UTSW	18	37692148	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCGAGACAGCTAAGAGTTACAC -3'
(R):5'- ACCGGTGCATTGTCGTTGAC -3'

Sequencing Primer
(F):5'- GCTAAGAGTTACACCCTGAATGTAG -3'
(R):5'- CTATCGGCAGCTACAATGGTGAC -3'

Posted On

2016-07-06