Mutagenetix > Incidental Mutation

Incidental Mutation 'R0848:Pcdhb1'

77461

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb1

Ensembl Gene

ENSMUSG00000051663

Gene Name

protocadherin beta 1

Synonyms

PcdhbA

MMRRC Submission

039027-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R0848 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37264938-37267525 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 37267422 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 809 (G809S)

Ref Sequence

ENSEMBL: ENSMUSP00000057519 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052366] [ENSMUST00000115661] [ENSMUST00000194544]

AlphaFold

Q91Y08

Predicted Effect

probably benign
Transcript: ENSMUST00000052366
AA Change: G809S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000057519
Gene: ENSMUSG00000051663
AA Change: G809S

Domain	Start	End	E-Value	Type
CA	45	131	1.04e-1	SMART
CA	155	240	1.23e-19	SMART
CA	264	345	8.4e-27	SMART
CA	369	450	5.31e-15	SMART
CA	474	560	6.27e-26	SMART
CA	590	671	6.05e-10	SMART
Pfam:Cadherin_C_2	687	772	4.7e-18	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: 99.4%
3x: 98.7%
10x: 97.3%
20x: 94.5%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	T	6: 23,114,985	H181Q	probably damaging	Het
Abca13	T	A	11: 9,682,011	L4977*	probably null	Het
Abca8a	T	A	11: 110,028,190	Y1550F	probably damaging	Het
Actr2	C	T	11: 20,072,584	E296K	probably benign	Het
Agtpbp1	A	T	13: 59,533,939		probably benign	Het
Anks1b	A	C	10: 90,071,125	E268A	probably damaging	Het
Atp5s	A	T	12: 69,741,810	H161L	probably benign	Het
C1rl	A	G	6: 124,508,506	T279A	probably benign	Het
C5ar2	T	C	7: 16,237,601	T134A	probably benign	Het
Cdkl3	G	A	11: 52,011,267	R101Q	probably damaging	Het
Celsr2	A	T	3: 108,414,338	F386Y	probably benign	Het
Chd1	C	T	17: 15,770,241	P1685L	probably damaging	Het
Chrne	G	T	11: 70,615,413	H402Q	probably benign	Het
Clvs1	A	G	4: 9,282,003	D149G	possibly damaging	Het
Cntnap5b	T	C	1: 100,255,163	Y620H	probably benign	Het
Col6a1	A	G	10: 76,713,624		probably null	Het
Cyp2d26	T	A	15: 82,790,233	I483F	probably benign	Het
Dlx6	C	T	6: 6,863,665	Q96*	probably null	Het
Eif1a	T	A	18: 46,608,047	N116K	possibly damaging	Het
Epb41l5	A	T	1: 119,549,954	C696S	probably benign	Het
Exoc7	A	G	11: 116,295,248	S376P	possibly damaging	Het
Fads1	C	T	19: 10,183,065	P5L	probably benign	Het
G3bp1	T	C	11: 55,498,626	F383L	probably damaging	Het
Gimap7	T	C	6: 48,723,723	I81T	probably damaging	Het
Gtf2a1l	T	C	17: 88,694,229	V171A	probably damaging	Het
Hax1	A	G	3: 89,995,633	S253P	probably damaging	Het
Hsd3b5	A	T	3: 98,619,355	D258E	probably damaging	Het
Kcnb1	G	T	2: 167,106,267	F220L	probably damaging	Het
Kif1a	T	A	1: 93,019,898	Y1708F	probably damaging	Het
Krt14	A	T	11: 100,204,264	I379N	probably damaging	Het
Lpxn	A	G	19: 12,804,037	I40V	probably benign	Het
Lrp1	C	T	10: 127,553,362		probably null	Het
Lyst	G	A	13: 13,634,930	R395H	probably benign	Het
Mindy4	G	A	6: 55,318,286	W737*	probably null	Het
Mki67	C	A	7: 135,701,043	R754L	probably benign	Het
Morf4l1	A	G	9: 90,100,449	V144A	probably benign	Het
Mvb12a	T	C	8: 71,545,778	S186P	probably benign	Het
Myrf	G	C	19: 10,218,162	T428S	probably benign	Het
Nipal1	A	G	5: 72,667,840	N292S	probably damaging	Het
Nqo2	T	G	13: 33,972,478		probably null	Het
Olfr1532-ps1	A	G	7: 106,914,993	K265R	probably benign	Het
Olfr294	T	C	7: 86,615,640	Y335C	probably damaging	Het
Olfr807	C	T	10: 129,755,208	V81I	probably benign	Het
Olfr994	A	T	2: 85,430,021	N269K	probably benign	Het
Osbpl7	C	A	11: 97,060,524	P507Q	probably damaging	Het
Pcm1	T	C	8: 41,282,683	V846A	probably damaging	Het
Phf3	A	G	1: 30,863,172	L20P	probably damaging	Het
Pih1d1	A	G	7: 45,157,617	T58A	probably damaging	Het
Plekhn1	A	G	4: 156,223,564		probably null	Het
Plvap	A	T	8: 71,506,882	L422Q	probably damaging	Het
Polq	C	T	16: 37,062,130	A1273V	probably benign	Het
Prelid2	T	A	18: 41,935,224	I51F	probably damaging	Het
Ptpn18	G	A	1: 34,462,702	D8N	probably damaging	Het
Ptpra	T	A	2: 130,518,991	F190Y	probably damaging	Het
Pus7l	A	G	15: 94,540,512	S151P	probably benign	Het
Rsph6a	G	A	7: 19,057,670	D255N	probably benign	Het
Serpinb6c	A	T	13: 33,899,305	V42D	probably damaging	Het
Slc7a13	A	G	4: 19,818,866	N22S	probably benign	Het
Snx5	G	A	2: 144,253,806	R312C	probably damaging	Het
Stard9	T	C	2: 120,695,823	S854P	probably damaging	Het
Syne2	AAGAG	AAGAGAGAG	12: 76,097,959		probably null	Het
Syne2	AGAGTGAG	AGAGTGAGTGAG	12: 76,097,960		probably null	Het
Tlr12	A	G	4: 128,616,291	I722T	probably benign	Het
Tmem101	A	T	11: 102,155,866	M59K	possibly damaging	Het
Trim34a	C	T	7: 104,261,124	R378C	probably benign	Het
Trim35	T	A	14: 66,309,125	M447K	probably benign	Het
Trps1	C	A	15: 50,661,549	S704I	possibly damaging	Het
Vmn1r231	T	A	17: 20,890,171	S161C	probably damaging	Het
Vps13a	A	C	19: 16,698,897	N1237K	probably damaging	Het
Zfp619	G	T	7: 39,536,559	C671F	probably damaging	Het

Other mutations in Pcdhb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01547:Pcdhb1	APN	18	37267342	missense	probably benign	0.06
IGL01622:Pcdhb1	APN	18	37266313	missense	possibly damaging	0.73
IGL01623:Pcdhb1	APN	18	37266313	missense	possibly damaging	0.73
IGL01663:Pcdhb1	APN	18	37267133	missense	possibly damaging	0.83
IGL01665:Pcdhb1	APN	18	37267397	missense	probably benign	0.01
IGL01780:Pcdhb1	APN	18	37266522	missense	probably damaging	1.00
IGL02121:Pcdhb1	APN	18	37265785	missense	probably benign	0.06
IGL02468:Pcdhb1	APN	18	37266178	missense	probably benign	0.21
IGL02602:Pcdhb1	APN	18	37266796	missense	probably damaging	1.00
K3955:Pcdhb1	UTSW	18	37265973	missense	probably damaging	1.00
R0242:Pcdhb1	UTSW	18	37266735	missense	probably benign	0.17
R0242:Pcdhb1	UTSW	18	37266735	missense	probably benign	0.17
R0329:Pcdhb1	UTSW	18	37267024	missense	possibly damaging	0.59
R0627:Pcdhb1	UTSW	18	37265721	missense	probably damaging	1.00
R1187:Pcdhb1	UTSW	18	37265544	missense	probably damaging	1.00
R1290:Pcdhb1	UTSW	18	37265230	missense	possibly damaging	0.54
R1928:Pcdhb1	UTSW	18	37266180	nonsense	probably null
R1957:Pcdhb1	UTSW	18	37265707	missense	probably damaging	1.00
R2897:Pcdhb1	UTSW	18	37266463	missense	probably damaging	1.00
R2898:Pcdhb1	UTSW	18	37266463	missense	probably damaging	1.00
R3037:Pcdhb1	UTSW	18	37265113	missense	probably damaging	1.00
R4193:Pcdhb1	UTSW	18	37267146	missense	probably damaging	0.99
R4291:Pcdhb1	UTSW	18	37265417	missense	probably damaging	1.00
R4308:Pcdhb1	UTSW	18	37266661	missense	probably benign	0.00
R4332:Pcdhb1	UTSW	18	37265530	missense	probably damaging	1.00
R4606:Pcdhb1	UTSW	18	37265528	nonsense	probably null
R4637:Pcdhb1	UTSW	18	37265749	missense	possibly damaging	0.95
R5159:Pcdhb1	UTSW	18	37266363	missense	possibly damaging	0.89
R5207:Pcdhb1	UTSW	18	37266462	missense	probably damaging	1.00
R5211:Pcdhb1	UTSW	18	37266651	missense	probably benign	0.06
R5273:Pcdhb1	UTSW	18	37265713	missense	probably benign	0.23
R5335:Pcdhb1	UTSW	18	37267255	missense	probably benign	0.00
R5398:Pcdhb1	UTSW	18	37266154	missense	probably damaging	1.00
R5452:Pcdhb1	UTSW	18	37265758	missense	possibly damaging	0.94
R5837:Pcdhb1	UTSW	18	37265827	missense	possibly damaging	0.57
R5882:Pcdhb1	UTSW	18	37267177	missense	probably benign	0.05
R5947:Pcdhb1	UTSW	18	37266673	missense	possibly damaging	0.74
R6109:Pcdhb1	UTSW	18	37265253	missense	possibly damaging	0.69
R7052:Pcdhb1	UTSW	18	37266529	missense	probably damaging	1.00
R7082:Pcdhb1	UTSW	18	37266991	missense	probably damaging	0.99
R7137:Pcdhb1	UTSW	18	37267392	missense	possibly damaging	0.69
R7229:Pcdhb1	UTSW	18	37266687	missense	probably damaging	1.00
R7392:Pcdhb1	UTSW	18	37265118	missense	possibly damaging	0.95
R7993:Pcdhb1	UTSW	18	37266991	missense	probably damaging	1.00
R8704:Pcdhb1	UTSW	18	37266349	missense	possibly damaging	0.51
R9498:Pcdhb1	UTSW	18	37265463	missense	probably damaging	0.99
R9703:Pcdhb1	UTSW	18	37265966	missense	probably damaging	1.00
R9757:Pcdhb1	UTSW	18	37267249	missense	probably benign	0.24
T0970:Pcdhb1	UTSW	18	37265973	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGTTCAAGGAAGAGGCAATGGTTC -3'
(R):5'- TTTGCTTAGCACACAAGAGAGGGG -3'

Sequencing Primer
(F):5'- AGAGGCAATGGTTCCTTATCTCAG -3'
(R):5'- AATCTAGGGATCAGGATACTTGTC -3'

Posted On

2013-10-16