Mutagenetix > Incidental Mutation

Incidental Mutation 'R0211:Pcdhb10'

35586

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb10

Ensembl Gene

ENSMUSG00000045657

Gene Name

protocadherin beta 10

Synonyms

PcdhbJ, Pcdhb5D

MMRRC Submission

038462-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R0211 (G1)

Quality Score

172

Status

Not validated

Chromosome

Chromosomal Location

37544727-37547567 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37547059 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 712 (M712L)

Ref Sequence

ENSEMBL: ENSMUSP00000056420 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051126] [ENSMUST00000115661] [ENSMUST00000194544]

AlphaFold

Q91VE5

Predicted Effect

probably benign
Transcript: ENSMUST00000051126
AA Change: M712L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000056420
Gene: ENSMUSG00000045657
AA Change: M712L

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

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: ENSMUST00000193984

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

Coding Region Coverage

1x: 98.2%
3x: 97.0%
10x: 94.6%
20x: 89.0%

Validation Efficiency

100% (1/1)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,262,870 (GRCm39)	L1401P	possibly damaging	Het
4930503B20Rik	C	T	3: 146,356,251 (GRCm39)	R219H	probably benign	Het
Abcc9	T	A	6: 142,634,710 (GRCm39)	I185F	probably benign	Het
Adgrf1	T	C	17: 43,607,581 (GRCm39)	L100P	probably damaging	Het
Akt1	T	C	12: 112,621,576 (GRCm39)	T407A	probably damaging	Het
Alk	C	T	17: 72,910,511 (GRCm39)	R65H	probably damaging	Het
Aplp2	T	C	9: 31,069,086 (GRCm39)	E525G	probably damaging	Het
Arhgef12	G	A	9: 42,883,300 (GRCm39)	R1411C	probably damaging	Het
Arnt	T	A	3: 95,383,460 (GRCm39)	M242K	probably damaging	Het
Atad5	T	G	11: 79,986,473 (GRCm39)	V520G	probably benign	Het
Avpr1a	T	A	10: 122,285,374 (GRCm39)	M222K	possibly damaging	Het
Cbr2	T	A	11: 120,621,614 (GRCm39)	I88L	probably benign	Het
Cc2d2a	T	A	5: 43,845,608 (GRCm39)		probably null	Het
Ccdc51	T	C	9: 108,918,441 (GRCm39)	M10T	probably benign	Het
Cntnap5b	T	A	1: 100,406,099 (GRCm39)	D1136E	possibly damaging	Het
Coil	T	A	11: 88,872,979 (GRCm39)	S447T	probably damaging	Het
Cryba1	T	A	11: 77,609,693 (GRCm39)	Y179F	probably damaging	Het
Dcaf4	T	A	12: 83,582,735 (GRCm39)	F277I	probably damaging	Het
Ddost	G	A	4: 138,036,913 (GRCm39)	V159M	probably damaging	Het
Dnaaf4	A	T	9: 72,868,649 (GRCm39)	R127S	possibly damaging	Het
Dnajb6	T	C	5: 29,990,077 (GRCm39)		probably benign	Het
Dnase2a	A	G	8: 85,635,417 (GRCm39)		probably benign	Het
Dscam	T	C	16: 96,517,279 (GRCm39)	I877V	possibly damaging	Het
Efcc1	A	T	6: 87,726,136 (GRCm39)	T312S	probably benign	Het
Elp1	T	A	4: 56,795,545 (GRCm39)	I143F	probably damaging	Het
Ermard	A	T	17: 15,242,205 (GRCm39)	Q127L	probably damaging	Het
F2	T	C	2: 91,460,503 (GRCm39)	E329G	probably damaging	Het
Foxc2	T	A	8: 121,843,355 (GRCm39)	M1K	probably null	Het
Fuz	T	A	7: 44,548,446 (GRCm39)		probably null	Het
Ggnbp2	G	A	11: 84,731,139 (GRCm39)	T325M	probably damaging	Het
Gm6408	T	A	5: 146,419,870 (GRCm39)	F115I	probably benign	Het
Gp6	C	T	7: 4,376,208 (GRCm39)		probably null	Het
Grin2a	A	G	16: 9,397,037 (GRCm39)	S1017P	possibly damaging	Het
H2-T5	T	C	17: 36,478,899 (GRCm39)	T117A	probably damaging	Het
Hmmr	A	T	11: 40,605,635 (GRCm39)	M318K	probably damaging	Het
Ifi205	T	C	1: 173,855,994 (GRCm39)	E12G	probably benign	Het
Ift74	C	T	4: 94,567,492 (GRCm39)	T395I	probably benign	Het
Irf8	A	T	8: 121,466,714 (GRCm39)	D53V	probably damaging	Het
Itgad	A	G	7: 127,803,813 (GRCm39)	Y69C	probably damaging	Het
Itpr2	C	A	6: 146,096,111 (GRCm39)	R2084L	probably benign	Het
Krt4	C	A	15: 101,831,217 (GRCm39)	S228I	possibly damaging	Het
Lpin3	A	T	2: 160,740,601 (GRCm39)	D382V	probably damaging	Het
Ltbp3	T	C	19: 5,802,171 (GRCm39)		probably null	Het
Map4k3	C	T	17: 80,952,270 (GRCm39)	A179T	probably damaging	Het
Nck1	A	T	9: 100,379,820 (GRCm39)	W144R	probably damaging	Het
Ndufb9	A	T	15: 58,811,131 (GRCm39)	Q139L	possibly damaging	Het
Ngfr	T	G	11: 95,462,738 (GRCm39)	E300A	probably damaging	Het
Nin	T	G	12: 70,061,649 (GRCm39)	T2072P	probably damaging	Het
Nop2	T	G	6: 125,118,307 (GRCm39)	L529R	probably damaging	Het
Nrm	T	A	17: 36,175,503 (GRCm39)	L203Q	probably damaging	Het
Nynrin	T	C	14: 56,109,255 (GRCm39)	F1454S	probably benign	Het
Or10ak7	T	A	4: 118,791,467 (GRCm39)	M191L	probably benign	Het
Or5b101	T	C	19: 13,005,646 (GRCm39)	T16A	possibly damaging	Het
Or8j3c	A	C	2: 86,253,451 (GRCm39)	S190A	probably damaging	Het
Os9	A	G	10: 126,956,905 (GRCm39)	V27A	probably damaging	Het
Osbpl9	T	G	4: 108,930,321 (GRCm39)	T332P	probably damaging	Het
Pcx	C	T	19: 4,670,227 (GRCm39)	A935V	probably damaging	Het
Pdzd7	A	G	19: 45,022,106 (GRCm39)	V514A	possibly damaging	Het
Plin4	C	T	17: 56,409,242 (GRCm39)	G1326D	probably damaging	Het
Plxnb1	T	A	9: 108,932,731 (GRCm39)	Y568*	probably null	Het
Pmfbp1	T	A	8: 110,268,372 (GRCm39)	V973D	probably benign	Het
Ppp2r1b	T	C	9: 50,772,925 (GRCm39)	V70A	probably benign	Het
Prkar2b	C	A	12: 32,022,183 (GRCm39)	V201L	probably benign	Het
Rgr	T	G	14: 36,768,925 (GRCm39)	T37P	probably damaging	Het
Ripk3	A	T	14: 56,025,375 (GRCm39)	L63Q	probably damaging	Het
Rpusd2	A	G	2: 118,868,893 (GRCm39)	S439G	probably benign	Het
Serac1	T	A	17: 6,100,335 (GRCm39)	R438S	possibly damaging	Het
Slc19a1	T	A	10: 76,874,300 (GRCm39)	S24T	possibly damaging	Het
Slc6a21	A	C	7: 44,937,667 (GRCm39)	T653P	possibly damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Spdef	C	T	17: 27,933,894 (GRCm39)	R309H	probably damaging	Het
Srp68	A	T	11: 116,156,377 (GRCm39)	Y84N	probably damaging	Het
Syne2	A	T	12: 76,144,731 (GRCm39)	Q6299L	probably damaging	Het
Tmem63b	T	A	17: 45,972,839 (GRCm39)	M652L	probably benign	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Tnk1	A	G	11: 69,746,007 (GRCm39)	V306A	probably damaging	Het
Tnnc2	T	A	2: 164,619,404 (GRCm39)	I147F	probably damaging	Het
Tnni3k	C	T	3: 154,760,981 (GRCm39)		probably benign	Het
Togaram2	T	A	17: 72,036,243 (GRCm39)	V911D	probably damaging	Het
Tyw3	T	C	3: 154,293,132 (GRCm39)	N181S	probably damaging	Het
Unc79	T	A	12: 103,039,051 (GRCm39)	S682T	probably benign	Het
Vps13d	A	G	4: 144,841,348 (GRCm39)	L2634S	probably benign	Het
Wasl	G	T	6: 24,633,892 (GRCm39)	A124E	probably damaging	Het
Zfp287	T	C	11: 62,605,743 (GRCm39)	H388R	probably damaging	Het
Zfp335	T	C	2: 164,749,612 (GRCm39)	T262A	probably damaging	Het
Zfp457	C	G	13: 67,441,211 (GRCm39)	G359R	probably benign	Het
Zfp536	T	A	7: 37,267,874 (GRCm39)	E514V	probably damaging	Het
Zfp872	T	A	9: 22,111,469 (GRCm39)	I316N	probably damaging	Het

Other mutations in Pcdhb10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01151:Pcdhb10	APN	18	37,545,248 (GRCm39)	missense	probably damaging	0.96
IGL01383:Pcdhb10	APN	18	37,546,328 (GRCm39)	missense	probably benign	0.14
IGL01765:Pcdhb10	APN	18	37,547,072 (GRCm39)	missense	probably benign	0.00
IGL02240:Pcdhb10	APN	18	37,545,455 (GRCm39)	missense	possibly damaging	0.90
IGL02548:Pcdhb10	APN	18	37,545,743 (GRCm39)	missense	probably benign	0.00
IGL02563:Pcdhb10	APN	18	37,546,126 (GRCm39)	missense	probably benign	0.26
IGL02598:Pcdhb10	APN	18	37,546,834 (GRCm39)	missense	possibly damaging	0.89
IGL02711:Pcdhb10	APN	18	37,545,779 (GRCm39)	missense	possibly damaging	0.56
IGL02813:Pcdhb10	APN	18	37,546,815 (GRCm39)	missense	possibly damaging	0.94
IGL02893:Pcdhb10	APN	18	37,546,687 (GRCm39)	missense	probably damaging	1.00
IGL03288:Pcdhb10	APN	18	37,546,358 (GRCm39)	missense	probably damaging	1.00
IGL03310:Pcdhb10	APN	18	37,545,374 (GRCm39)	missense	probably damaging	0.97
R0004:Pcdhb10	UTSW	18	37,545,012 (GRCm39)	missense	probably benign
R0004:Pcdhb10	UTSW	18	37,545,012 (GRCm39)	missense	probably benign
R0211:Pcdhb10	UTSW	18	37,547,059 (GRCm39)	missense	probably benign
R0389:Pcdhb10	UTSW	18	37,545,485 (GRCm39)	missense	probably damaging	1.00
R0443:Pcdhb10	UTSW	18	37,545,485 (GRCm39)	missense	probably damaging	1.00
R0480:Pcdhb10	UTSW	18	37,546,152 (GRCm39)	missense	probably damaging	1.00
R1218:Pcdhb10	UTSW	18	37,546,214 (GRCm39)	missense	probably damaging	1.00
R1448:Pcdhb10	UTSW	18	37,545,556 (GRCm39)	missense	possibly damaging	0.89
R1737:Pcdhb10	UTSW	18	37,546,009 (GRCm39)	missense	probably benign	0.01
R2092:Pcdhb10	UTSW	18	37,547,240 (GRCm39)	missense	probably benign	0.00
R2277:Pcdhb10	UTSW	18	37,545,677 (GRCm39)	missense	possibly damaging	0.82
R2363:Pcdhb10	UTSW	18	37,547,190 (GRCm39)	nonsense	probably null
R3826:Pcdhb10	UTSW	18	37,545,470 (GRCm39)	missense	probably damaging	1.00
R4372:Pcdhb10	UTSW	18	37,546,366 (GRCm39)	missense	possibly damaging	0.95
R4412:Pcdhb10	UTSW	18	37,547,194 (GRCm39)	frame shift	probably null
R4760:Pcdhb10	UTSW	18	37,544,995 (GRCm39)	missense	probably benign	0.05
R4941:Pcdhb10	UTSW	18	37,545,887 (GRCm39)	missense	probably benign	0.29
R5271:Pcdhb10	UTSW	18	37,546,222 (GRCm39)	missense	probably benign	0.44
R5643:Pcdhb10	UTSW	18	37,546,219 (GRCm39)	missense	possibly damaging	0.63
R5851:Pcdhb10	UTSW	18	37,545,811 (GRCm39)	missense	probably benign	0.00
R6089:Pcdhb10	UTSW	18	37,546,679 (GRCm39)	missense	possibly damaging	0.91
R6125:Pcdhb10	UTSW	18	37,546,679 (GRCm39)	missense	possibly damaging	0.91
R6189:Pcdhb10	UTSW	18	37,545,456 (GRCm39)	missense	probably damaging	0.99
R6414:Pcdhb10	UTSW	18	37,546,898 (GRCm39)	missense	possibly damaging	0.95
R6731:Pcdhb10	UTSW	18	37,546,529 (GRCm39)	missense	probably benign	0.02
R6999:Pcdhb10	UTSW	18	37,546,171 (GRCm39)	missense	probably damaging	1.00
R7019:Pcdhb10	UTSW	18	37,546,056 (GRCm39)	missense	probably damaging	1.00
R7317:Pcdhb10	UTSW	18	37,546,079 (GRCm39)	missense	possibly damaging	0.67
R7554:Pcdhb10	UTSW	18	37,544,935 (GRCm39)	missense	probably benign
R7638:Pcdhb10	UTSW	18	37,545,365 (GRCm39)	missense	probably benign	0.03
R7710:Pcdhb10	UTSW	18	37,546,654 (GRCm39)	nonsense	probably null
R7763:Pcdhb10	UTSW	18	37,544,935 (GRCm39)	missense	not run
R7867:Pcdhb10	UTSW	18	37,546,619 (GRCm39)	missense	probably benign	0.03
R8269:Pcdhb10	UTSW	18	37,547,062 (GRCm39)	missense	probably benign	0.09
R8355:Pcdhb10	UTSW	18	37,545,134 (GRCm39)	missense	probably damaging	1.00
R9265:Pcdhb10	UTSW	18	37,546,553 (GRCm39)	missense	possibly damaging	0.82
X0024:Pcdhb10	UTSW	18	37,546,051 (GRCm39)	missense	probably benign	0.12
X0036:Pcdhb10	UTSW	18	37,545,026 (GRCm39)	missense	probably damaging	1.00
Z1176:Pcdhb10	UTSW	18	37,546,448 (GRCm39)	frame shift	probably null
Z1177:Pcdhb10	UTSW	18	37,545,596 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGAGTGAGCGAGATGCACCCAAG -3'
(R):5'- TTGAACTCACCAGTCCCAGAGTCC -3'

Sequencing Primer
(F):5'- TGCTGGTGGTCAAGGACAATG -3'
(R):5'- TCCCAGAGTCCCCCGATAAAC -3'

Posted On

2013-05-09