Mutagenetix > Incidental Mutations

Incidental Mutation 'R2092:Pcdhb10'

231882

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb10

Ensembl Gene

ENSMUSG00000045657

Gene Name

protocadherin beta 10

Synonyms

Pcdhb5D, PcdhbJ

MMRRC Submission

040097-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R2092 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37411664-37414514 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 37414187 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 772 (I772N)

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: I772N

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000056420
Gene: ENSMUSG00000045657
AA Change: I772N

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	A	6: 121,674,937	C1321*	probably null	Het
Abca8b	A	G	11: 109,966,708	F673L	possibly damaging	Het
Adam19	T	G	11: 46,060,904		probably null	Het
AI987944	T	C	7: 41,374,617	T313A	possibly damaging	Het
Akap13	A	T	7: 75,610,570	I178F	probably benign	Het
Alb	G	GA	5: 90,463,983		probably null	Het
Bod1l	A	G	5: 41,831,517	S416P	probably damaging	Het
Casr	A	T	16: 36,510,043	Y310N	possibly damaging	Het
Cela3a	T	C	4: 137,404,426	N152S	probably benign	Het
Chrdl2	T	A	7: 100,020,977	C102*	probably null	Het
Col4a4	G	A	1: 82,498,946	S554L	unknown	Het
Col6a4	T	C	9: 106,060,331	K1392R	probably damaging	Het
Dab1	T	G	4: 104,678,777	Y128D	probably damaging	Het
Dars	A	T	1: 128,374,018	M293K	probably damaging	Het
Dlec1	T	C	9: 119,121,844	F493L	possibly damaging	Het
Dmbt1	G	T	7: 131,050,018	W330L	probably damaging	Het
Dnah11	A	T	12: 118,012,716	M831K	possibly damaging	Het
Dock7	T	C	4: 99,009,308	N715S	possibly damaging	Het
Edc4	T	A	8: 105,887,528	L12Q	probably damaging	Het
Edem2	T	C	2: 155,709,049	M333V	probably benign	Het
Fpr-rs4	CAGGAA	CA	17: 18,022,334		probably null	Het
Fto	C	A	8: 91,409,687	Y194*	probably null	Het
Gnptab	T	G	10: 88,440,305	Y1151*	probably null	Het
Grm1	A	G	10: 10,689,225	L1113P	probably benign	Het
Hnrnpa0	T	C	13: 58,127,800	K172E	probably damaging	Het
Ifitm1	A	G	7: 140,969,514	D70G	probably damaging	Het
Irx4	C	A	13: 73,265,486	T25K	probably damaging	Het
Kif22	C	T	7: 127,033,630	D195N	probably damaging	Het
Lrp2	C	T	2: 69,536,021	D245N	probably benign	Het
Lyz1	C	T	10: 117,288,599	R144Q	probably benign	Het
Macf1	T	A	4: 123,383,178	T6055S	probably damaging	Het
Mrgpra2b	C	T	7: 47,464,160	V249I	probably benign	Het
Myh9	G	A	15: 77,764,350	Q80*	probably null	Het
Myo6	G	T	9: 80,245,682	R199L	probably damaging	Het
Naglu	G	A	11: 101,076,720	V499I	possibly damaging	Het
Nfkbie	T	C	17: 45,558,539	F140S	probably benign	Het
Olfr1208	A	G	2: 88,897,267	F110S	probably damaging	Het
Olfr1454	T	A	19: 13,063,802	Y130*	probably null	Het
Olfr510	CAAATA	CA	7: 108,667,662		probably null	Het
Olfr598	G	A	7: 103,329,109	V208M	probably damaging	Het
Olfr67	A	T	7: 103,788,072	F68L	possibly damaging	Het
Olfr935	A	T	9: 38,995,189	L82Q	probably damaging	Het
Otop1	A	T	5: 38,299,766	I290F	probably damaging	Het
P2rx2	C	T	5: 110,341,141	D203N	probably damaging	Het
Pnliprp1	A	G	19: 58,741,184	H423R	probably benign	Het
Ptk2	A	T	15: 73,236,191	Y56*	probably null	Het
Rapgef3	T	C	15: 97,760,723	D134G	probably damaging	Het
Scaf11	A	C	15: 96,415,827	S1358A	probably damaging	Het
Scn9a	T	C	2: 66,533,376	M844V	probably damaging	Het
Sh3tc1	T	C	5: 35,700,658	E1121G	probably damaging	Het
Slc25a15	T	C	8: 22,380,934	T176A	probably damaging	Het
Slc29a4	T	A	5: 142,718,855	I384N	probably damaging	Het
Slc40a1	A	T	1: 45,909,454	D555E	probably benign	Het
Smc5	T	C	19: 23,238,899	I446V	probably benign	Het
St6gal2	T	C	17: 55,510,266	Y477H	probably damaging	Het
Syngr1	A	T	15: 80,115,940	Q84L	possibly damaging	Het
Tedc1	T	C	12: 113,157,720	L187P	probably damaging	Het
Tg	A	G	15: 66,849,607	I322V	probably null	Het
Thap12	T	C	7: 98,716,449	V608A	possibly damaging	Het
Tmbim6	T	C	15: 99,402,068	S22P	probably damaging	Het
Ttc3	C	T	16: 94,442,832	P1232S	probably benign	Het
Upk3a	A	G	15: 85,018,085	T38A	probably damaging	Het
Utrn	A	T	10: 12,678,698	M1549K	probably benign	Het
Vmn1r176	C	T	7: 23,835,153	D192N	probably damaging	Het
Vmn1r198	A	G	13: 22,354,715	T35A	possibly damaging	Het
Xkr7	C	T	2: 153,054,063	S279L	probably damaging	Het
Zer1	G	A	2: 30,108,274	L342F	probably damaging	Het
Zfp641	G	T	15: 98,293,712	T31N	probably benign	Het
Zfp74	G	A	7: 29,953,924		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
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
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
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

PCR Primer
(F):5'- CTGCTCTTCGTTGGGATGAAGC -3'
(R):5'- CACTTTGGTAATGGAGGACATGC -3'

Sequencing Primer
(F):5'- CGTTGGGATGAAGCTGTGCAAG -3'
(R):5'- GGAGGACATGCATACACTTTGACTAC -3'

Posted On

2014-09-18