Mutagenetix > Incidental Mutation

Incidental Mutation 'R7763:Pcdhb10'

598095

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb10

Ensembl Gene

ENSMUSG00000045657

Gene Name

protocadherin beta 10

Synonyms

Pcdhb5D, PcdhbJ

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R7763 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37411664-37414514 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37411882 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 4 (T4A)

Ref Sequence

ENSEMBL: ENSMUSP00000056420 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051126]

AlphaFold

Q91VE5

Predicted Effect

not run
Transcript: ENSMUST00000051126
AA Change: T4A

SMART Domains

Protein: ENSMUSP00000056420
Gene: ENSMUSG00000045657
AA Change: T4A

Domain	Start	End	E-Value	Type
Pfam:Cadherin_2	30	112	5.5e-33	PFAM
CA	155	240	5.59e-23	SMART
CA	264	344	5.17e-27	SMART
CA	367	448	5.59e-23	SMART
CA	472	558	6.62e-25	SMART
CA	588	669	2.03e-11	SMART
Pfam:Cadherin_C_2	686	769	1.5e-26	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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 beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 111 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	A	7: 120,514,602	W899R	probably damaging	Het
Abca5	A	T	11: 110,272,497	W1631R	possibly damaging	Het
Actg2	T	A	6: 83,527,368	D25V	probably damaging	Het
Akap10	G	C	11: 61,915,505	D132E	probably damaging	Het
Angptl2	G	T	2: 33,242,382	E334*	probably null	Het
Aprt	T	C	8: 122,574,935	R165G	probably benign	Het
B020004J07Rik	T	C	4: 101,837,141	I182V	possibly damaging	Het
Bmp1	A	G	14: 70,492,084	F549S	probably damaging	Het
Capzb	C	T	4: 139,280,553	T215I	probably benign	Het
Car14	C	T	3: 95,904,372	M1I	probably null	Het
Ccdc148	T	A	2: 58,823,636	Q501L	probably benign	Het
Ccdc32	G	A	2: 119,027,347	T12I	probably damaging	Het
Ccnf	G	A	17: 24,225,012	S594L	probably damaging	Het
Cdadc1	C	T	14: 59,573,834	C409Y	probably damaging	Het
Cdh23	G	T	10: 60,312,577	S2670R	probably damaging	Het
Cdh8	T	A	8: 99,279,674	K94*	probably null	Het
Cdhr2	A	T	13: 54,717,692	Y193F	probably damaging	Het
Cdon	T	A	9: 35,454,415	Y153*	probably null	Het
Chd1	G	A	17: 15,733,041	G413R	probably damaging	Het
Cit	A	T	5: 115,987,001	T1582S	probably benign	Het
Clec4a3	T	C	6: 122,964,340	L98P	probably benign	Het
Cpa4	T	A	6: 30,583,645	D253E	probably damaging	Het
Cyhr1	A	T	15: 76,658,547	Y138N	probably damaging	Het
Cyp2c40	T	A	19: 39,807,168	N189I	possibly damaging	Het
Daam2	G	T	17: 49,490,022	A245E	probably benign	Het
Dennd5b	A	G	6: 149,068,658	F121S	probably damaging	Het
Dgkd	A	G	1: 87,926,949	T658A	probably benign	Het
Dmwd	T	A	7: 19,080,340	L305Q	probably damaging	Het
Dnah5	A	T	15: 28,313,855	Y1939F	probably damaging	Het
Dock5	T	C	14: 67,821,327	T512A	probably damaging	Het
Dopey2	T	A	16: 93,755,514	D398E	probably benign	Het
Eef1akmt4	A	G	16: 20,618,529	H207R	probably damaging	Het
Egfr	T	C	11: 16,891,266	V719A	probably damaging	Het
Ep300	A	T	15: 81,586,583		probably benign	Het
Epha4	A	G	1: 77,390,031		probably null	Het
Erc2	T	G	14: 27,876,204		probably null	Het
Ergic1	A	T	17: 26,638,827	Y209F	possibly damaging	Het
Fbxw28	A	G	9: 109,326,633	I357T	probably damaging	Het
Flnb	A	T	14: 7,926,478	T1841S	probably benign	Het
Foxc1	G	A	13: 31,808,028	S274N	probably benign	Het
Fto	C	T	8: 91,409,443	T115M	probably damaging	Het
Gm10228	C	G	16: 89,041,299	C39S	unknown	Het
Gm7334	T	C	17: 50,698,715	F10L	possibly damaging	Het
Hfm1	A	G	5: 106,881,861	Y785H	probably damaging	Het
Hivep1	T	A	13: 42,159,461	S1726T	probably benign	Het
Htt	G	T	5: 34,852,190	C1505F	probably damaging	Het
Hydin	T	C	8: 110,505,843	S1665P	possibly damaging	Het
Ifi209	T	A	1: 173,642,879	N344K	probably damaging	Het
Ifnar2	T	C	16: 91,399,293	M262T	probably benign	Het
Ighv7-3	T	A	12: 114,153,207	S112C	probably damaging	Het
Igkv4-86	A	G	6: 68,910,579	S59P	probably benign	Het
Iglv1	A	G	16: 19,085,489		probably benign	Het
Ipo7	T	A	7: 110,052,799	D928E	possibly damaging	Het
Itgae	G	T	11: 73,123,269		probably null	Het
Kbtbd12	T	A	6: 88,618,197	Q217L	probably benign	Het
Kcnma1	T	A	14: 23,300,006	Y1155F	possibly damaging	Het
Kif14	A	G	1: 136,516,383	E1371G	probably benign	Het
Lilrb4a	A	T	10: 51,491,046	Y10F	probably benign	Het
Lrp2	A	T	2: 69,503,388	V1503E	probably damaging	Het
Mfsd6	A	T	1: 52,708,640	D355E	probably benign	Het
Mri1	T	C	8: 84,251,028	H226R		Het
Mroh4	C	T	15: 74,624,705	E278K	probably damaging	Het
Muc4	T	A	16: 32,753,311	L1063H	probably benign	Het
Mzf1	A	T	7: 13,044,091	I541N	probably damaging	Het
Nasp	T	A	4: 116,612,033	E116D	probably benign	Het
Nlrp10	T	A	7: 108,925,826	E149V	probably damaging	Het
Notch4	G	A	17: 34,582,418	C1080Y	probably damaging	Het
Nova1	T	G	12: 46,720,698	I147L	unknown	Het
Ogdh	A	G	11: 6,338,558	M223V	probably benign	Het
Olfr1391	G	T	11: 49,327,671	A87S	probably benign	Het
Olfr444	T	C	6: 42,955,789	I97T	probably benign	Het
Olfr732	A	T	14: 50,281,488	I255N	probably damaging	Het
Olfr792	G	T	10: 129,541,455	R306L	probably benign	Het
P3h3	T	C	6: 124,854,432	Q330R	probably benign	Het
Pkd2l2	A	T	18: 34,433,287		probably null	Het
Plekhb1	C	T	7: 100,645,663	V168I	probably benign	Het
Plxna4	C	T	6: 32,223,980	R753H	probably damaging	Het
Prex1	G	C	2: 166,713,709	P4A	unknown	Het
Ptgdr	A	G	14: 44,859,078	V59A	probably damaging	Het
Ralgapa1	T	A	12: 55,757,955	I519F	probably benign	Het
Rbpms	A	G	8: 33,789,453	I170T	probably benign	Het
Sec31b	T	A	19: 44,523,835		probably null	Het
Skint11	A	T	4: 114,227,708	Y138F	probably benign	Het
Slain2	A	G	5: 72,948,610	Y196C	probably damaging	Het
Slco1b2	T	A	6: 141,676,224	C503*	probably null	Het
Slfn3	A	T	11: 83,214,788	Y537F	possibly damaging	Het
Slu7	T	C	11: 43,444,765	Y443H	probably damaging	Het
Sorl1	T	A	9: 42,043,909	E683D	probably damaging	Het
Sos1	T	A	17: 80,413,713	I893L	probably benign	Het
St8sia2	T	A	7: 73,943,321	Y329F	probably damaging	Het
Stra6l	C	A	4: 45,869,570	S212*	probably null	Het
Syne3	C	T	12: 104,997,495		probably benign	Het
Tenm4	T	A	7: 96,895,692	I2342N	probably benign	Het
Tescl	T	A	7: 24,333,263	E212D	probably benign	Het
Trip11	A	G	12: 101,844,855	S1879P	probably benign	Het
Ube2c	A	T	2: 164,771,291		probably null	Het
Umodl1	T	A	17: 30,986,456	I675N	probably benign	Het
Vipr2	T	C	12: 116,122,718	F121S	probably damaging	Het
Vmn1r206	A	T	13: 22,620,669	S123T	possibly damaging	Het
Vmn1r58	A	G	7: 5,410,913	V106A	probably damaging	Het
Vmn2r112	A	G	17: 22,603,118	Y259C	probably damaging	Het
Vmn2r66	T	C	7: 85,005,701	K467E	probably benign	Het
Vmn2r98	T	C	17: 19,080,535	F600L	probably benign	Het
Vps13a	T	A	19: 16,746,000	N278I	possibly damaging	Het
Vwa5a	A	C	9: 38,741,162	D747A	possibly damaging	Het
Xdh	G	A	17: 73,934,834	P157S	possibly damaging	Het
Xrn1	G	A	9: 95,998,348		probably null	Het
Zfp362	T	A	4: 128,787,031	H180L	probably benign	Het
Zfp560	A	T	9: 20,347,323	W748R	possibly damaging	Het
Zfp808	A	T	13: 62,172,664	Q569L	probably benign	Het
Zfp93	T	A	7: 24,275,218	D209E	possibly damaging	Het

Other mutations in Pcdhb10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01151:Pcdhb10	APN	18	37412195	missense	probably damaging	0.96
IGL01383:Pcdhb10	APN	18	37413275	missense	probably benign	0.14
IGL01765:Pcdhb10	APN	18	37414019	missense	probably benign	0.00
IGL02240:Pcdhb10	APN	18	37412402	missense	possibly damaging	0.90
IGL02548:Pcdhb10	APN	18	37412690	missense	probably benign	0.00
IGL02563:Pcdhb10	APN	18	37413073	missense	probably benign	0.26
IGL02598:Pcdhb10	APN	18	37413781	missense	possibly damaging	0.89
IGL02711:Pcdhb10	APN	18	37412726	missense	possibly damaging	0.56
IGL02813:Pcdhb10	APN	18	37413762	missense	possibly damaging	0.94
IGL02893:Pcdhb10	APN	18	37413634	missense	probably damaging	1.00
IGL03288:Pcdhb10	APN	18	37413305	missense	probably damaging	1.00
IGL03310:Pcdhb10	APN	18	37412321	missense	probably damaging	0.97
R0004:Pcdhb10	UTSW	18	37411959	missense	probably benign
R0004:Pcdhb10	UTSW	18	37411959	missense	probably benign
R0211:Pcdhb10	UTSW	18	37414006	missense	probably benign
R0211:Pcdhb10	UTSW	18	37414006	missense	probably benign
R0389:Pcdhb10	UTSW	18	37412432	missense	probably damaging	1.00
R0443:Pcdhb10	UTSW	18	37412432	missense	probably damaging	1.00
R0480:Pcdhb10	UTSW	18	37413099	missense	probably damaging	1.00
R1218:Pcdhb10	UTSW	18	37413161	missense	probably damaging	1.00
R1448:Pcdhb10	UTSW	18	37412503	missense	possibly damaging	0.89
R1737:Pcdhb10	UTSW	18	37412956	missense	probably benign	0.01
R2092:Pcdhb10	UTSW	18	37414187	missense	probably benign	0.00
R2277:Pcdhb10	UTSW	18	37412624	missense	possibly damaging	0.82
R2363:Pcdhb10	UTSW	18	37414137	nonsense	probably null
R3826:Pcdhb10	UTSW	18	37412417	missense	probably damaging	1.00
R4372:Pcdhb10	UTSW	18	37413313	missense	possibly damaging	0.95
R4412:Pcdhb10	UTSW	18	37414141	frame shift	probably null
R4760:Pcdhb10	UTSW	18	37411942	missense	probably benign	0.05
R4941:Pcdhb10	UTSW	18	37412834	missense	probably benign	0.29
R5271:Pcdhb10	UTSW	18	37413169	missense	probably benign	0.44
R5643:Pcdhb10	UTSW	18	37413166	missense	possibly damaging	0.63
R5851:Pcdhb10	UTSW	18	37412758	missense	probably benign	0.00
R6089:Pcdhb10	UTSW	18	37413626	missense	possibly damaging	0.91
R6125:Pcdhb10	UTSW	18	37413626	missense	possibly damaging	0.91
R6189:Pcdhb10	UTSW	18	37412403	missense	probably damaging	0.99
R6414:Pcdhb10	UTSW	18	37413845	missense	possibly damaging	0.95
R6731:Pcdhb10	UTSW	18	37413476	missense	probably benign	0.02
R6999:Pcdhb10	UTSW	18	37413118	missense	probably damaging	1.00
R7019:Pcdhb10	UTSW	18	37413003	missense	probably damaging	1.00
R7317:Pcdhb10	UTSW	18	37413026	missense	possibly damaging	0.67
R7554:Pcdhb10	UTSW	18	37411882	missense	probably benign
R7638:Pcdhb10	UTSW	18	37412312	missense	probably benign	0.03
R7710:Pcdhb10	UTSW	18	37413601	nonsense	probably null
R7867:Pcdhb10	UTSW	18	37413566	missense	probably benign	0.03
R8269:Pcdhb10	UTSW	18	37414009	missense	probably benign	0.09
R8355:Pcdhb10	UTSW	18	37412081	missense	probably damaging	1.00
R9265:Pcdhb10	UTSW	18	37413500	missense	possibly damaging	0.82
X0024:Pcdhb10	UTSW	18	37412998	missense	probably benign	0.12
X0036:Pcdhb10	UTSW	18	37411973	missense	probably damaging	1.00
Z1176:Pcdhb10	UTSW	18	37413395	frame shift	probably null
Z1177:Pcdhb10	UTSW	18	37412543	missense	probably damaging	1.00

Predicted Primers

Posted On

2019-11-26