Mutagenetix > Incidental Mutations

Incidental Mutation 'R0004:Pcdhb10'

32424

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb10

Ensembl Gene

ENSMUSG00000045657

Gene Name

protocadherin beta 10

Synonyms

Pcdhb5D, PcdhbJ

MMRRC Submission

038300-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R0004 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

37411664-37414514 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 37411959 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 29 (D29E)

Ref Sequence

ENSEMBL: ENSMUSP00000056420 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000051126
AA Change: D29E

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

SMART Domains

Protein: ENSMUSP00000056420
Gene: ENSMUSG00000045657
AA Change: D29E

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

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

Validation Efficiency

98% (63/64)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adal	T	C	2: 121,152,485	I86T	probably damaging	Het
Aff3	T	C	1: 38,269,726	D376G	possibly damaging	Het
Akap11	A	T	14: 78,514,940	H164Q	possibly damaging	Het
Akap12	A	T	10: 4,353,220	D10V	probably damaging	Het
Arhgap32	T	C	9: 32,151,998	V101A	probably damaging	Het
Atm	A	T	9: 53,453,528		probably benign	Het
Ccdc18	A	G	5: 108,161,700	D387G	possibly damaging	Het
Ccdc38	A	T	10: 93,574,102	Q261L	probably damaging	Het
Cd180	T	G	13: 102,702,708	V33G	probably benign	Het
Cd207	G	A	6: 83,674,248	Q242*	probably null	Het
Cnp	T	C	11: 100,576,807	F192S	probably damaging	Het
Colec10	G	T	15: 54,410,875	R33L	possibly damaging	Het
Csn1s1	A	T	5: 87,671,531	M16L	probably benign	Het
Dnah10	A	T	5: 124,726,902	M98L	probably benign	Het
Dnah17	T	C	11: 118,060,092	I2902V	possibly damaging	Het
Dtnb	A	G	12: 3,596,635		probably benign	Het
Epha5	T	C	5: 84,331,842	Y101C	probably damaging	Het
Ephb2	T	A	4: 136,657,524	M860L	probably damaging	Het
Fbxw18	T	C	9: 109,701,313	T77A	probably damaging	Het
Fgfbp3	A	G	19: 36,918,682	S179P	possibly damaging	Het
Foxp2	A	G	6: 15,197,096	T45A	possibly damaging	Het
Gckr	A	T	5: 31,297,589		probably benign	Het
Glce	T	A	9: 62,068,579	Q213L	probably damaging	Het
Gm1965	A	C	6: 89,146,487	H84P	unknown	Het
Hbegf	A	G	18: 36,507,506	V166A	probably damaging	Het
Helb	G	T	10: 120,108,981	H217N	probably damaging	Het
Ino80	G	A	2: 119,382,960	R1249C	probably damaging	Het
Kansl2	A	G	15: 98,520,376	L392P	probably damaging	Het
Klra1	A	T	6: 130,372,873	Y201N	probably damaging	Het
Klra3	A	G	6: 130,323,687	S240P	probably damaging	Het
Liph	T	A	16: 21,984,194	R42*	probably null	Het
Lrp1	A	T	10: 127,541,825		probably null	Het
Luc7l2	A	T	6: 38,589,234	K52M	probably damaging	Het
Mecom	G	A	3: 29,979,911	P215S	probably damaging	Het
Myo1g	T	A	11: 6,515,901	T395S	probably damaging	Het
Ndst4	T	A	3: 125,570,826	M384K	probably benign	Het
Ndufb2	C	T	6: 39,596,504	T51I	possibly damaging	Het
Nell1	C	A	7: 50,560,759		probably benign	Het
Olfr639	A	T	7: 104,012,431	N90K	probably benign	Het
Oxr1	G	A	15: 41,820,540	S434N	possibly damaging	Het
Pcdhac2	T	A	18: 37,145,237	S423R	probably benign	Het
Pde10a	A	G	17: 8,981,576	T1053A	probably benign	Het
Pkdrej	T	A	15: 85,818,183	H1184L	probably damaging	Het
Prkaa2	C	T	4: 105,047,091	R263Q	probably null	Het
Prmt9	A	G	8: 77,555,782	I103V	possibly damaging	Het
Rbm15b	T	C	9: 106,884,936	T678A	probably benign	Het
Ryr2	T	C	13: 11,665,919	Y3180C	probably benign	Het
Scaf1	T	C	7: 45,007,670		probably benign	Het
Scn7a	T	A	2: 66,687,795	N1024I	possibly damaging	Het
Sec23b	T	C	2: 144,564,562		probably benign	Het
Sf1	C	A	19: 6,374,191	P417Q	probably damaging	Het
Slc4a3	A	T	1: 75,557,009		probably benign	Het
Stk32a	T	C	18: 43,305,056	W207R	probably damaging	Het
Syne1	A	T	10: 5,443,132		probably benign	Het
Tecta	A	T	9: 42,345,478	V1634E	possibly damaging	Het
Tenm2	A	G	11: 36,023,357	F2450S	probably damaging	Het
Tgfb1	T	C	7: 25,692,366		probably benign	Het
Tpgs2	A	G	18: 25,158,238		probably benign	Het
Washc5	A	G	15: 59,367,467	M149T	probably damaging	Het
Wrn	A	T	8: 33,317,560	V290D	probably damaging	Het
Zbtb41	A	G	1: 139,442,888	T688A	possibly damaging	Het
Zfp560	C	T	9: 20,347,967	C533Y	probably damaging	Het
Zfp791	G	A	8: 85,110,866	A123V	probably benign	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
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
R7763:Pcdhb10	UTSW	18	37411882	missense	not run
R7867:Pcdhb10	UTSW	18	37413566	missense	probably benign	0.03
R8269:Pcdhb10	UTSW	18	37414009	missense	probably benign	0.09
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

PCR Primer
(F):5'- TCATGAAAAGGGACACTTGGTGGC -3'
(R):5'- AAATTCCCAGTCTCTGCATCCAGC -3'

Sequencing Primer
(F):5'- TCTAGGGGAGAAATCTCCGC -3'
(R):5'- AATAGCCAGCTCTCCAACTC -3'

Posted On

2013-05-09