Mutagenetix > Incidental Mutations

Incidental Mutation 'R6193:Pcdhb5'

502759

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb5

Ensembl Gene

ENSMUSG00000063687

Gene Name

protocadherin beta 5

Synonyms

Pcdhb4A, PcdhbE

MMRRC Submission

044333-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R6193 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37320381-37323915 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 37322027 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Aspartic acid at position 487 (Y487D)

Ref Sequence

ENSEMBL: ENSMUSP00000077389 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078271] [ENSMUST00000115661] [ENSMUST00000194544]

Predicted Effect

probably damaging
Transcript: ENSMUST00000078271
AA Change: Y487D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000077389
Gene: ENSMUSG00000063687
AA Change: Y487D

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
CA	46	130	1.55e0	SMART
CA	154	239	2.42e-18	SMART
CA	263	344	1.27e-26	SMART
CA	367	448	1.14e-23	SMART
CA	472	558	2.38e-26	SMART
CA	588	669	7.06e-11	SMART
Pfam:Cadherin_C_2	686	769	3.1e-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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	A	G	15: 60,920,780	I106T	probably benign	Het
Aagab	A	C	9: 63,617,513	N35H	possibly damaging	Het
Abcf1	A	C	17: 35,963,572	N161K	possibly damaging	Het
Adam11	T	A	11: 102,771,261	H140Q	probably benign	Het
Araf	G	T	X: 20,860,100	R601L	probably damaging	Homo
Arhgef26	A	T	3: 62,339,792	D99V	possibly damaging	Het
Arhgef28	A	G	13: 97,985,380	S559P	probably damaging	Het
C130060K24Rik	T	A	6: 65,456,158	F321I	probably damaging	Het
Capn11	A	G	17: 45,653,504		probably null	Het
Ccdc157	T	C	11: 4,151,912	H3R	probably damaging	Het
Cd101	A	G	3: 101,020,462	L101P	probably damaging	Het
Clca3a1	A	G	3: 144,759,232	V80A	possibly damaging	Het
Cnot6	T	A	11: 49,680,023	I381F	probably benign	Het
Cntn3	T	A	6: 102,208,131	I675F	probably benign	Het
Cplx2	C	T	13: 54,379,593	P97S	probably damaging	Het
Crtac1	T	A	19: 42,323,797	E159V	possibly damaging	Het
Cyp27a1	A	G	1: 74,737,072	I416V	probably benign	Het
Cyp2d37-ps	T	C	15: 82,689,813		noncoding transcript	Het
Cyp2d9	A	G	15: 82,452,527	T26A	probably benign	Het
Cyp2j7	T	A	4: 96,195,203	R503S	probably damaging	Het
Dclk1	A	T	3: 55,516,871		probably null	Het
Dgkq	A	T	5: 108,655,500	C231*	probably null	Het
Dync1i1	T	A	6: 5,730,679	M38K	probably benign	Het
Eif2ak4	C	T	2: 118,400,600		probably benign	Het
Ephx2	A	T	14: 66,089,512	D411E	probably benign	Het
Ephx2	T	G	14: 66,112,220	Q34P	probably benign	Het
Fam192a	A	G	8: 94,575,720	S228P	probably damaging	Het
Fer1l5	A	T	1: 36,409,436	N1092Y	probably benign	Het
Fetub	C	T	16: 22,932,331	R143C	probably damaging	Het
Fzd4	A	T	7: 89,407,989	K415*	probably null	Het
Gfi1	A	T	5: 107,721,531	Y278N	probably benign	Het
Gm11565	T	C	11: 99,915,244	M154T	probably benign	Het
Gm14548	C	G	7: 3,898,050		probably null	Het
Gm7247	A	G	14: 51,521,842	I93V	possibly damaging	Het
Golm1	T	G	13: 59,645,158	I178L	probably benign	Het
Grip1	A	T	10: 120,038,314	D302V	probably damaging	Het
Gtf2h1	G	A	7: 46,806,830		probably null	Het
Herc2	C	A	7: 56,156,901	P2372T	probably damaging	Het
Ighv1-59	C	A	12: 115,335,166	L89F	probably damaging	Het
Ighv7-4	G	A	12: 114,222,825	A109V	possibly damaging	Het
Kcnk10	G	T	12: 98,440,772	Q222K	probably benign	Het
Klra6	A	T	6: 130,018,918	M159K	probably benign	Het
Lzts3	T	C	2: 130,637,386	T36A	probably damaging	Het
Mgam	T	A	6: 40,747,920	Y443*	probably null	Het
Mmp23	T	A	4: 155,651,533	M221L	possibly damaging	Het
Mmp7	T	A	9: 7,695,518	V132E	probably damaging	Het
Npas2	C	A	1: 39,292,762	T86N	probably damaging	Het
Olfr1043	C	T	2: 86,162,284	V222M	possibly damaging	Het
Olfr392	T	A	11: 73,814,824	H86L	probably benign	Het
Papola	A	T	12: 105,820,346	E103V	probably benign	Het
Parp9	A	T	16: 35,947,551	N34Y	possibly damaging	Het
Pcdh7	A	G	5: 57,720,324	D407G	probably damaging	Het
Pla2g4a	T	C	1: 149,902,430	D5G	probably damaging	Het
Plxnb1	T	C	9: 109,104,903	L733P	probably benign	Het
Ppfia4	T	C	1: 134,324,161	D425G	probably benign	Het
Prss2	T	G	6: 41,521,820	I6S	unknown	Het
Qrich2	T	A	11: 116,454,153	I1693L	probably benign	Het
Rad52	T	C	6: 119,920,182	V324A	probably benign	Het
Rapgef2	A	T	3: 79,069,444	Y1352N	possibly damaging	Het
Rsad2	T	G	12: 26,456,187	Y78S	probably damaging	Het
Scaf1	A	G	7: 45,006,780		probably benign	Het
Sfxn5	T	C	6: 85,269,936	T131A	probably damaging	Het
Slc4a10	T	G	2: 62,243,357		probably null	Het
Syt1	A	G	10: 108,500,736	V357A	probably benign	Het
Tenm2	T	A	11: 36,046,794	D1685V	probably damaging	Het
Thegl	A	G	5: 77,016,336	D62G	possibly damaging	Het
Tmc3	A	G	7: 83,603,335	T315A	probably benign	Het
Tmem266	T	C	9: 55,437,209	L375P	probably benign	Het
Tsks	T	G	7: 44,953,839	L355R	probably damaging	Het
Uaca	G	A	9: 60,870,044	R571Q	probably damaging	Het
Ube2f	T	A	1: 91,275,319		probably null	Het
Usp37	A	T	1: 74,492,928	V102D	probably damaging	Het
Usp44	G	A	10: 93,847,148		probably benign	Het
Vmn2r115	T	C	17: 23,357,009	F527S	probably benign	Het
Zfp101	A	C	17: 33,381,746	Y345*	probably null	Het
Zfp160	C	A	17: 21,026,862	A558E	probably benign	Het
Zfp236	T	C	18: 82,604,247	E1686G	probably damaging	Het
Zfp655	T	A	5: 145,244,776	D481E	probably benign	Het
Zswim4	A	G	8: 84,226,145	V396A	probably benign	Het

Other mutations in Pcdhb5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00504:Pcdhb5	APN	18	37322109	missense	probably damaging	1.00
IGL00895:Pcdhb5	APN	18	37320983	missense	probably benign	0.42
IGL00896:Pcdhb5	APN	18	37322785	splice site	probably null
IGL01385:Pcdhb5	APN	18	37322214	missense	probably benign	0.00
IGL01619:Pcdhb5	APN	18	37322939	missense	probably damaging	1.00
IGL01712:Pcdhb5	APN	18	37321253	missense	probably damaging	1.00
IGL01716:Pcdhb5	APN	18	37321022	missense	probably benign
IGL01719:Pcdhb5	APN	18	37321022	missense	probably benign
IGL01720:Pcdhb5	APN	18	37321022	missense	probably benign
IGL01723:Pcdhb5	APN	18	37321022	missense	probably benign
IGL01724:Pcdhb5	APN	18	37321022	missense	probably benign
IGL01839:Pcdhb5	APN	18	37321449	missense	probably damaging	0.98
IGL01884:Pcdhb5	APN	18	37321334	missense	probably benign	0.00
IGL01962:Pcdhb5	APN	18	37321040	missense	probably damaging	1.00
IGL02088:Pcdhb5	APN	18	37321959	missense	probably benign	0.11
IGL02299:Pcdhb5	APN	18	37320890	missense	probably benign
IGL02444:Pcdhb5	APN	18	37321050	missense	probably benign	0.01
IGL03372:Pcdhb5	APN	18	37320660	missense	probably benign	0.22
R0034:Pcdhb5	UTSW	18	37322084	missense	probably damaging	1.00
R0047:Pcdhb5	UTSW	18	37321268	missense	possibly damaging	0.87
R0179:Pcdhb5	UTSW	18	37322559	missense	probably damaging	1.00
R0466:Pcdhb5	UTSW	18	37322543	missense	probably damaging	1.00
R0471:Pcdhb5	UTSW	18	37321306	nonsense	probably null
R0565:Pcdhb5	UTSW	18	37320767	missense	possibly damaging	0.91
R0646:Pcdhb5	UTSW	18	37321622	missense	probably benign
R1014:Pcdhb5	UTSW	18	37322250	missense	probably damaging	1.00
R1617:Pcdhb5	UTSW	18	37321402	nonsense	probably null
R1676:Pcdhb5	UTSW	18	37320752	missense	probably benign	0.01
R1774:Pcdhb5	UTSW	18	37322672	missense	probably damaging	0.99
R1826:Pcdhb5	UTSW	18	37321469	nonsense	probably null
R1854:Pcdhb5	UTSW	18	37322340	missense	possibly damaging	0.94
R2355:Pcdhb5	UTSW	18	37322116	missense	probably benign
R4290:Pcdhb5	UTSW	18	37322681	missense	possibly damaging	0.90
R4292:Pcdhb5	UTSW	18	37322681	missense	possibly damaging	0.90
R4293:Pcdhb5	UTSW	18	37322681	missense	possibly damaging	0.90
R4294:Pcdhb5	UTSW	18	37322681	missense	possibly damaging	0.90
R4295:Pcdhb5	UTSW	18	37322681	missense	possibly damaging	0.90
R4391:Pcdhb5	UTSW	18	37322736	missense	possibly damaging	0.88
R4411:Pcdhb5	UTSW	18	37321997	missense	possibly damaging	0.80
R4480:Pcdhb5	UTSW	18	37320752	missense	probably benign	0.43
R4852:Pcdhb5	UTSW	18	37322471	missense	probably benign	0.04
R5121:Pcdhb5	UTSW	18	37321117	missense	probably benign	0.11
R5133:Pcdhb5	UTSW	18	37320890	missense	probably benign
R5630:Pcdhb5	UTSW	18	37321155	missense	possibly damaging	0.88
R5833:Pcdhb5	UTSW	18	37321102	missense	probably damaging	0.99
R5896:Pcdhb5	UTSW	18	37322679	nonsense	probably null
R5942:Pcdhb5	UTSW	18	37320785	nonsense	probably null
R5945:Pcdhb5	UTSW	18	37321470	missense	probably benign	0.08
R5970:Pcdhb5	UTSW	18	37321773	missense	probably damaging	1.00
R6045:Pcdhb5	UTSW	18	37321575	missense	probably damaging	1.00
R6054:Pcdhb5	UTSW	18	37321080	missense	probably damaging	0.98
R6147:Pcdhb5	UTSW	18	37320726	missense	probably damaging	1.00
R6152:Pcdhb5	UTSW	18	37322833	nonsense	probably null
R6397:Pcdhb5	UTSW	18	37321505	missense	probably benign	0.08
R6505:Pcdhb5	UTSW	18	37320880	missense	probably benign	0.00
R6608:Pcdhb5	UTSW	18	37321823	missense	probably damaging	0.98
R6737:Pcdhb5	UTSW	18	37322670	missense	probably damaging	1.00
R7146:Pcdhb5	UTSW	18	37321356	missense	probably damaging	1.00
R7162:Pcdhb5	UTSW	18	37321686	missense	probably benign	0.16
R7584:Pcdhb5	UTSW	18	37322372	missense	possibly damaging	0.90
R8214:Pcdhb5	UTSW	18	37321583	missense	probably benign	0.37
R8327:Pcdhb5	UTSW	18	37320900	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GAGCAGAGCTGAGTACAACATC -3'
(R):5'- TTGTCGTCTAGCACCACCAC -3'

Sequencing Primer
(F):5'- ATCACAGTCTCCGACCTGG -3'
(R):5'- ACGCGCACCAGAGCCTG -3'

Posted On

2018-02-27