Mutagenetix > Incidental Mutation

Incidental Mutation 'R7248:Pcdhb2'

563717

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb2

Ensembl Gene

ENSMUSG00000051599

Gene Name

protocadherin beta 2

Synonyms

PcdhbB

MMRRC Submission

045311-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R7248 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37427893-37430667 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37429547 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 507 (S507P)

Ref Sequence

ENSEMBL: ENSMUSP00000057921 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051754] [ENSMUST00000056522] [ENSMUST00000115661] [ENSMUST00000193137] [ENSMUST00000194544]

AlphaFold

Q91Y00

Predicted Effect

probably benign
Transcript: ENSMUST00000051754

SMART Domains

Protein: ENSMUSP00000059180
Gene: ENSMUSG00000045498

Domain	Start	End	E-Value	Type
low complexity region	14	28	N/A	INTRINSIC
CA	44	131	6.29e-1	SMART
CA	155	240	7.16e-21	SMART
CA	264	345	1.22e-23	SMART
CA	368	449	2.86e-20	SMART
CA	473	559	2.55e-26	SMART
CA	589	670	1.11e-8	SMART
Pfam:Cadherin_C_2	687	770	9.9e-25	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000056522
AA Change: S507P

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

SMART Domains

Protein: ENSMUSP00000057921
Gene: ENSMUSG00000051599
AA Change: S507P

Domain	Start	End	E-Value	Type
Pfam:Cadherin_2	32	114	5.2e-33	PFAM
CA	157	242	1.74e-19	SMART
CA	266	347	5.99e-23	SMART
CA	370	451	1.16e-20	SMART
CA	475	561	5.94e-27	SMART
CA	591	672	2.03e-11	SMART
Pfam:Cadherin_C_2	688	771	3.5e-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: ENSMUST00000193137

SMART Domains

Protein: ENSMUSP00000141439
Gene: ENSMUSG00000051599

Domain	Start	End	E-Value	Type
CA	13	94	1.8e-22	SMART

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: 98.4%

Validation Efficiency

97% (75/77)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	G	3: 124,207,959 (GRCm39)		probably null	Het
Aldh16a1	A	G	7: 44,795,018 (GRCm39)	Y484H	probably damaging	Het
Arhgap26	T	C	18: 39,439,907 (GRCm39)		probably null	Het
Atxn7l1	A	G	12: 33,417,194 (GRCm39)	T452A	probably benign	Het
Baz1a	C	T	12: 54,947,293 (GRCm39)	E1119K	probably damaging	Het
Btaf1	A	T	19: 36,922,714 (GRCm39)	E39D	possibly damaging	Het
Bud13	G	T	9: 46,194,413 (GRCm39)	E29*	probably null	Het
Ccdc150	C	T	1: 54,344,057 (GRCm39)	T530I	probably benign	Het
Chd6	G	A	2: 160,803,199 (GRCm39)	Q2160*	probably null	Het
Cluap1	T	A	16: 3,737,364 (GRCm39)	I172N	possibly damaging	Het
Cnot2	T	C	10: 116,334,278 (GRCm39)	N329S	probably benign	Het
Cog4	A	T	8: 111,608,834 (GRCm39)	T175S	unknown	Het
Coq7	C	A	7: 118,128,897 (GRCm39)	R46L	probably benign	Het
D630045J12Rik	A	T	6: 38,145,198 (GRCm39)	V1276E	probably damaging	Het
Dcaf15	A	G	8: 84,829,394 (GRCm39)	V116A	possibly damaging	Het
Ddr2	C	T	1: 169,822,198 (GRCm39)	V417I	probably benign	Het
Defa25	G	A	8: 21,575,216 (GRCm39)	C65Y	probably damaging	Het
Dhx38	T	C	8: 110,285,559 (GRCm39)	T425A	probably benign	Het
Diaph1	T	C	18: 38,022,829 (GRCm39)	T782A	probably benign	Het
Dnah7b	T	A	1: 46,181,245 (GRCm39)	M1044K	possibly damaging	Het
Dusp16	G	A	6: 134,695,940 (GRCm39)	T297M	probably benign	Het
Esyt2	A	G	12: 116,305,858 (GRCm39)	N363D	probably damaging	Het
Fasl	C	T	1: 161,615,760 (GRCm39)	C32Y	possibly damaging	Het
Flg	T	C	3: 93,189,041 (GRCm39)	V137A	probably benign	Het
Gm57858	T	A	3: 36,080,086 (GRCm39)	T224S	probably benign	Het
Gpr150	G	A	13: 76,204,126 (GRCm39)	A273V	probably benign	Het
Grk5	A	G	19: 60,879,045 (GRCm39)	T10A	probably benign	Het
Hivep2	A	G	10: 14,006,909 (GRCm39)	K1169R	possibly damaging	Het
Ido2	A	C	8: 25,030,657 (GRCm39)	Y224*	probably null	Het
Ido2	A	G	8: 25,038,839 (GRCm39)	I149T	probably damaging	Het
Iqca1l	C	T	5: 24,749,269 (GRCm39)	S743N	probably benign	Het
Kctd2	A	G	11: 115,312,845 (GRCm39)	T126A	possibly damaging	Het
Khdc4	T	C	3: 88,600,886 (GRCm39)	S228P	probably damaging	Het
Kif1a	T	C	1: 92,969,305 (GRCm39)	D1090G	probably benign	Het
Klrb1a	A	T	6: 128,586,697 (GRCm39)	H222Q	possibly damaging	Het
Kndc1	A	C	7: 139,500,699 (GRCm39)	H688P	probably damaging	Het
Lrriq1	C	A	10: 103,059,611 (GRCm39)	V141F	possibly damaging	Het
Malrd1	A	G	2: 16,106,722 (GRCm39)	I1845V	unknown	Het
Mob3c	G	A	4: 115,688,881 (GRCm39)	R138H	probably benign	Het
Mre11a	T	A	9: 14,723,209 (GRCm39)	D394E	possibly damaging	Het
Myh7b	A	T	2: 155,464,106 (GRCm39)	I536F	probably damaging	Het
Nacad	T	A	11: 6,548,589 (GRCm39)	K1382*	probably null	Het
Ncor1	T	C	11: 62,275,598 (GRCm39)	K128R	possibly damaging	Het
Or10am5	T	C	7: 6,517,520 (GRCm39)	N303D	probably damaging	Het
Ostn	T	A	16: 27,165,719 (GRCm39)		probably null	Het
Pacs1	G	A	19: 5,189,003 (GRCm39)	T793I	probably damaging	Het
Pde2a	A	G	7: 101,152,597 (GRCm39)	K393E	possibly damaging	Het
Pfkl	T	A	10: 77,825,423 (GRCm39)	N656Y	probably damaging	Het
Phf20	T	A	2: 156,135,331 (GRCm39)		probably null	Het
Plekha6	G	T	1: 133,203,586 (GRCm39)	E550*	probably null	Het
Plxna4	A	T	6: 32,139,095 (GRCm39)	V1691E	probably damaging	Het
Rag1	A	T	2: 101,472,123 (GRCm39)	H1006Q	probably damaging	Het
Rfx4	C	T	10: 84,740,919 (GRCm39)	P679L	probably benign	Het
Ripor2	A	G	13: 24,878,128 (GRCm39)	H301R	probably damaging	Het
Rrp12	A	T	19: 41,871,877 (GRCm39)	I469N	possibly damaging	Het
Serpinb6b	A	G	13: 33,161,559 (GRCm39)	T211A	probably benign	Het
Sf1	A	T	19: 6,426,383 (GRCm39)	H547L	unknown	Het
Slc29a1	T	C	17: 45,903,108 (GRCm39)	D9G	probably damaging	Het
Sptan1	T	A	2: 29,892,311 (GRCm39)	M1075K	probably benign	Het
Syngap1	A	G	17: 27,176,741 (GRCm39)	D474G	probably damaging	Het
Syt16	C	T	12: 74,313,483 (GRCm39)	R470C	probably damaging	Het
Timeless	A	G	10: 128,087,870 (GRCm39)	T1148A	probably benign	Het
Tmem116	A	T	5: 121,601,899 (GRCm39)		probably null	Het
Tmem158	A	T	9: 123,089,390 (GRCm39)	I74N	probably damaging	Het
Traf5	T	A	1: 191,743,432 (GRCm39)	D174V	probably benign	Het
Trim65	A	T	11: 116,018,534 (GRCm39)	I247N	probably benign	Het
Tsfm	A	T	10: 126,847,500 (GRCm39)	V197E	probably benign	Het
Utrn	A	G	10: 12,604,562 (GRCm39)	C539R	possibly damaging	Het
Vps13a	A	T	19: 16,655,406 (GRCm39)	F1874Y	probably benign	Het
Wdr6	A	G	9: 108,453,238 (GRCm39)	M215T	possibly damaging	Het
Wdr75	T	A	1: 45,856,560 (GRCm39)	W528R	probably damaging	Het
Zc3h7b	A	G	15: 81,655,988 (GRCm39)	D112G	possibly damaging	Het
Zc3hav1	C	T	6: 38,330,911 (GRCm39)	D83N	probably benign	Het
Zfp369	T	A	13: 65,443,931 (GRCm39)	V358E	probably damaging	Het
Zfp946	T	A	17: 22,672,489 (GRCm39)	C29*	probably null	Het
Zng1	A	G	19: 24,898,505 (GRCm39)	S318P	probably damaging	Het

Other mutations in Pcdhb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00430:Pcdhb2	APN	18	37,429,516 (GRCm39)	splice site	probably null
IGL01538:Pcdhb2	APN	18	37,428,375 (GRCm39)	nonsense	probably null
IGL01716:Pcdhb2	APN	18	37,429,791 (GRCm39)	missense	probably damaging	0.99
IGL01747:Pcdhb2	APN	18	37,429,356 (GRCm39)	missense	probably damaging	1.00
IGL01770:Pcdhb2	APN	18	37,429,356 (GRCm39)	missense	probably damaging	1.00
IGL01999:Pcdhb2	APN	18	37,429,890 (GRCm39)	missense	probably damaging	1.00
IGL02174:Pcdhb2	APN	18	37,429,551 (GRCm39)	missense	probably damaging	1.00
IGL02325:Pcdhb2	APN	18	37,429,733 (GRCm39)	missense	possibly damaging	0.91
IGL03148:Pcdhb2	APN	18	37,429,831 (GRCm39)	missense	probably damaging	1.00
IGL03263:Pcdhb2	APN	18	37,429,059 (GRCm39)	missense	probably damaging	1.00
R0158:Pcdhb2	UTSW	18	37,430,283 (GRCm39)	missense	probably damaging	1.00
R0512:Pcdhb2	UTSW	18	37,429,032 (GRCm39)	missense	probably damaging	1.00
R0656:Pcdhb2	UTSW	18	37,428,543 (GRCm39)	missense	probably damaging	1.00
R0670:Pcdhb2	UTSW	18	37,429,701 (GRCm39)	missense	probably damaging	1.00
R0698:Pcdhb2	UTSW	18	37,430,419 (GRCm39)	missense	probably benign	0.00
R0825:Pcdhb2	UTSW	18	37,428,710 (GRCm39)	missense	possibly damaging	0.61
R0827:Pcdhb2	UTSW	18	37,428,710 (GRCm39)	missense	possibly damaging	0.61
R0862:Pcdhb2	UTSW	18	37,428,710 (GRCm39)	missense	possibly damaging	0.61
R0863:Pcdhb2	UTSW	18	37,428,710 (GRCm39)	missense	possibly damaging	0.61
R1344:Pcdhb2	UTSW	18	37,428,710 (GRCm39)	missense	possibly damaging	0.61
R1440:Pcdhb2	UTSW	18	37,429,343 (GRCm39)	missense	probably benign	0.22
R1826:Pcdhb2	UTSW	18	37,429,038 (GRCm39)	missense	probably damaging	0.99
R1828:Pcdhb2	UTSW	18	37,429,038 (GRCm39)	missense	probably damaging	0.99
R1869:Pcdhb2	UTSW	18	37,430,408 (GRCm39)	splice site	probably null
R1871:Pcdhb2	UTSW	18	37,430,408 (GRCm39)	splice site	probably null
R2292:Pcdhb2	UTSW	18	37,430,297 (GRCm39)	splice site	probably null
R3743:Pcdhb2	UTSW	18	37,429,470 (GRCm39)	missense	probably damaging	1.00
R4067:Pcdhb2	UTSW	18	37,430,367 (GRCm39)	splice site	probably null
R4127:Pcdhb2	UTSW	18	37,428,594 (GRCm39)	missense	probably damaging	0.97
R4402:Pcdhb2	UTSW	18	37,428,455 (GRCm39)	missense	probably benign	0.05
R4579:Pcdhb2	UTSW	18	37,429,168 (GRCm39)	missense	probably damaging	1.00
R4621:Pcdhb2	UTSW	18	37,428,980 (GRCm39)	missense	probably benign	0.44
R4678:Pcdhb2	UTSW	18	37,429,260 (GRCm39)	missense	probably damaging	1.00
R5143:Pcdhb2	UTSW	18	37,429,785 (GRCm39)	missense	probably damaging	1.00
R5152:Pcdhb2	UTSW	18	37,429,179 (GRCm39)	missense	probably damaging	0.97
R6552:Pcdhb2	UTSW	18	37,429,046 (GRCm39)	missense	probably benign
R6908:Pcdhb2	UTSW	18	37,429,577 (GRCm39)	missense	probably damaging	1.00
R6973:Pcdhb2	UTSW	18	37,429,416 (GRCm39)	missense	probably benign	0.03
R7143:Pcdhb2	UTSW	18	37,428,934 (GRCm39)	missense	probably benign	0.05
R7586:Pcdhb2	UTSW	18	37,428,857 (GRCm39)	nonsense	probably null
R7634:Pcdhb2	UTSW	18	37,428,000 (GRCm39)	intron	probably benign
R7796:Pcdhb2	UTSW	18	37,428,446 (GRCm39)	missense	possibly damaging	0.63
R7862:Pcdhb2	UTSW	18	37,429,113 (GRCm39)	missense	probably benign	0.25
R8415:Pcdhb2	UTSW	18	37,429,110 (GRCm39)	missense	probably damaging	0.97
R8950:Pcdhb2	UTSW	18	37,429,715 (GRCm39)	missense	probably damaging	1.00
R9351:Pcdhb2	UTSW	18	37,429,369 (GRCm39)	missense	probably damaging	1.00
R9360:Pcdhb2	UTSW	18	37,429,551 (GRCm39)	missense	probably damaging	1.00
R9592:Pcdhb2	UTSW	18	37,429,266 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAGGTGTCTGACATCAACG -3'
(R):5'- TGCAGGGCACAGAAGAGTTC -3'

Sequencing Primer
(F):5'- GGTGTCTGACATCAACGACAACG -3'
(R):5'- AGAGTTCTGTAGTGGGTAGAGCAC -3'

Posted On

2019-06-26