Mutagenetix > Incidental Mutation

Incidental Mutation 'R7229:Pcdhb1'

562391

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb1

Ensembl Gene

ENSMUSG00000051663

Gene Name

protocadherin beta 1

Synonyms

PcdhbA

MMRRC Submission

045301-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.131) question?

Stock #

R7229 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37397991-37400578 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 37399740 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 564 (Y564N)

Ref Sequence

ENSEMBL: ENSMUSP00000057519 (fasta)

Gene Model

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

AlphaFold

Q91Y08

Predicted Effect

probably damaging
Transcript: ENSMUST00000052366
AA Change: Y564N

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

SMART Domains

Protein: ENSMUSP00000057519
Gene: ENSMUSG00000051663
AA Change: Y564N

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (73/73)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	T	C	14: 54,832,809 (GRCm39)	E122G	probably benign	Het
Adamts2	T	C	11: 50,682,647 (GRCm39)	Y880H	probably damaging	Het
Atp13a4	A	G	16: 29,239,723 (GRCm39)	S830P	probably benign	Het
Atp1a3	T	A	7: 24,687,410 (GRCm39)	Q696L	probably benign	Het
Brox	G	A	1: 183,073,523 (GRCm39)	R85*	probably null	Het
C130073F10Rik	T	C	4: 101,747,439 (GRCm39)	I197V	probably benign	Het
Cand2	G	A	6: 115,768,153 (GRCm39)	V433M	probably damaging	Het
Cep83	A	G	10: 94,555,527 (GRCm39)	K74E	probably damaging	Het
Chrng	A	T	1: 87,137,166 (GRCm39)	T275S	probably benign	Het
Clca3a2	T	C	3: 144,789,869 (GRCm39)	D489G	probably damaging	Het
Cmtr1	A	G	17: 29,914,398 (GRCm39)		probably null	Het
Cnga1	T	C	5: 72,775,592 (GRCm39)	N43S	probably benign	Het
Cog8	A	T	8: 107,782,984 (GRCm39)	C102S	probably damaging	Het
Cpsf3	G	A	12: 21,346,738 (GRCm39)		probably null	Het
Cyp26b1	G	A	6: 84,554,132 (GRCm39)	Q162*	probably null	Het
Elmod3	A	G	6: 72,571,736 (GRCm39)	F14S	probably benign	Het
Eps8	A	G	6: 137,516,354 (GRCm39)	S9P	probably benign	Het
Fam184b	T	C	5: 45,741,517 (GRCm39)	Q238R	probably damaging	Het
Fbxw7	T	C	3: 84,884,676 (GRCm39)	L654S	unknown	Het
Foxp1	A	T	6: 98,912,373 (GRCm39)	L580Q	unknown	Het
Galr1	A	G	18: 82,423,789 (GRCm39)	S163P	probably damaging	Het
Ganc	T	C	2: 120,258,256 (GRCm39)	F201L	possibly damaging	Het
Gin1	T	C	1: 97,712,876 (GRCm39)	F310L	probably benign	Het
Grik2	A	T	10: 48,977,512 (GRCm39)		probably null	Het
Haus1	A	T	18: 77,851,834 (GRCm39)	F94I	probably benign	Het
Hcn4	A	G	9: 58,760,682 (GRCm39)	Y409C	unknown	Het
Hspa1l	A	G	17: 35,196,231 (GRCm39)	K90R	probably benign	Het
Icam5	T	C	9: 20,948,297 (GRCm39)	S702P	possibly damaging	Het
Ifnar1	A	G	16: 91,296,444 (GRCm39)	H315R	probably benign	Het
Klra9	T	C	6: 130,168,224 (GRCm39)	H14R	probably damaging	Het
Krt78	A	G	15: 101,855,829 (GRCm39)	Y661H	probably benign	Het
Krtap11-1	T	C	16: 89,367,813 (GRCm39)	T69A	possibly damaging	Het
L3mbtl3	C	A	10: 26,168,560 (GRCm39)	S598I	unknown	Het
Lama1	A	T	17: 68,059,441 (GRCm39)	D608V		Het
Lrrc55	G	A	2: 85,026,784 (GRCm39)	T80I	probably damaging	Het
Lyst	A	T	13: 13,818,094 (GRCm39)	T1255S	probably benign	Het
Magi2	T	C	5: 20,670,586 (GRCm39)	V310A	probably damaging	Het
Med23	C	A	10: 24,777,902 (GRCm39)	A750D	probably benign	Het
Mmp2	G	A	8: 93,558,414 (GRCm39)	R161Q	probably damaging	Het
Myo15a	A	T	11: 60,387,321 (GRCm39)	I733F	probably benign	Het
Ncan	A	T	8: 70,552,961 (GRCm39)	F1090L	possibly damaging	Het
Or2ag2b	T	G	7: 106,418,202 (GRCm39)	V304G	probably damaging	Het
Otulinl	G	A	15: 27,658,273 (GRCm39)	T199M	probably benign	Het
Pafah1b1	A	G	11: 74,573,104 (GRCm39)	I320T	probably damaging	Het
Pear1	A	G	3: 87,657,596 (GRCm39)	S988P	probably benign	Het
Pgam2	A	C	11: 5,753,013 (GRCm39)	V194G	probably damaging	Het
Plvap	A	T	8: 71,964,221 (GRCm39)	I47N	probably damaging	Het
Prdx6	A	T	1: 161,074,867 (GRCm39)	L71H	probably damaging	Het
Psmb11	G	A	14: 54,863,408 (GRCm39)	V209M	probably damaging	Het
Ptprn2	G	A	12: 117,190,845 (GRCm39)		probably null	Het
Rcn2	T	A	9: 55,964,763 (GRCm39)	N240K	probably benign	Het
Rsad2	A	T	12: 26,504,122 (GRCm39)	Y136N	probably damaging	Het
Slc12a4	T	G	8: 106,673,369 (GRCm39)	Q734P	probably benign	Het
Smarcc2	T	A	10: 128,323,917 (GRCm39)	M1085K	unknown	Het
Smg1	A	T	7: 117,776,178 (GRCm39)	C1371S	probably benign	Het
Spg11	A	T	2: 121,938,585 (GRCm39)	F456L	probably damaging	Het
Srsf10	C	T	4: 135,583,528 (GRCm39)		probably benign	Het
Stxbp5	T	C	10: 9,673,931 (GRCm39)	Y4C	probably damaging	Het
Tdrd12	T	A	7: 35,179,705 (GRCm39)	D881V	unknown	Het
Tmem171	T	C	13: 98,829,133 (GRCm39)	T6A	probably benign	Het
Tmem220	T	C	11: 66,916,989 (GRCm39)	L55P	unknown	Het
Ttn	G	T	2: 76,677,125 (GRCm39)	P11037Q	unknown	Het
Tulp4	C	T	17: 6,282,055 (GRCm39)	H695Y	probably damaging	Het
Usp47	T	C	7: 111,692,084 (GRCm39)	S849P	probably benign	Het
Vcan	G	A	13: 89,853,389 (GRCm39)	P524S	possibly damaging	Het
Vmn1r18	A	G	6: 57,367,083 (GRCm39)	M157T	probably benign	Het
Vmn2r109	A	T	17: 20,761,225 (GRCm39)	C711S	possibly damaging	Het
Wasf3	C	T	5: 146,392,463 (GRCm39)	R178C	probably damaging	Het
Wdr76	G	A	2: 121,359,401 (GRCm39)	V231I	probably damaging	Het
Xirp2	A	T	2: 67,355,895 (GRCm39)	N3552I	probably damaging	Het
Zfp804a	A	G	2: 82,088,969 (GRCm39)	T933A	probably benign	Het
Zmynd8	A	G	2: 165,699,973 (GRCm39)		probably null	Het
Zranb3	A	T	1: 127,968,630 (GRCm39)	I95K	probably benign	Het

Other mutations in Pcdhb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01547:Pcdhb1	APN	18	37,400,395 (GRCm39)	missense	probably benign	0.06
IGL01622:Pcdhb1	APN	18	37,399,366 (GRCm39)	missense	possibly damaging	0.73
IGL01623:Pcdhb1	APN	18	37,399,366 (GRCm39)	missense	possibly damaging	0.73
IGL01663:Pcdhb1	APN	18	37,400,186 (GRCm39)	missense	possibly damaging	0.83
IGL01665:Pcdhb1	APN	18	37,400,450 (GRCm39)	missense	probably benign	0.01
IGL01780:Pcdhb1	APN	18	37,399,575 (GRCm39)	missense	probably damaging	1.00
IGL02121:Pcdhb1	APN	18	37,398,838 (GRCm39)	missense	probably benign	0.06
IGL02468:Pcdhb1	APN	18	37,399,231 (GRCm39)	missense	probably benign	0.21
IGL02602:Pcdhb1	APN	18	37,399,849 (GRCm39)	missense	probably damaging	1.00
K3955:Pcdhb1	UTSW	18	37,399,026 (GRCm39)	missense	probably damaging	1.00
R0242:Pcdhb1	UTSW	18	37,399,788 (GRCm39)	missense	probably benign	0.17
R0242:Pcdhb1	UTSW	18	37,399,788 (GRCm39)	missense	probably benign	0.17
R0329:Pcdhb1	UTSW	18	37,400,077 (GRCm39)	missense	possibly damaging	0.59
R0627:Pcdhb1	UTSW	18	37,398,774 (GRCm39)	missense	probably damaging	1.00
R0848:Pcdhb1	UTSW	18	37,400,475 (GRCm39)	missense	probably benign	0.00
R1187:Pcdhb1	UTSW	18	37,398,597 (GRCm39)	missense	probably damaging	1.00
R1290:Pcdhb1	UTSW	18	37,398,283 (GRCm39)	missense	possibly damaging	0.54
R1928:Pcdhb1	UTSW	18	37,399,233 (GRCm39)	nonsense	probably null
R1957:Pcdhb1	UTSW	18	37,398,760 (GRCm39)	missense	probably damaging	1.00
R2897:Pcdhb1	UTSW	18	37,399,516 (GRCm39)	missense	probably damaging	1.00
R2898:Pcdhb1	UTSW	18	37,399,516 (GRCm39)	missense	probably damaging	1.00
R3037:Pcdhb1	UTSW	18	37,398,166 (GRCm39)	missense	probably damaging	1.00
R4193:Pcdhb1	UTSW	18	37,400,199 (GRCm39)	missense	probably damaging	0.99
R4291:Pcdhb1	UTSW	18	37,398,470 (GRCm39)	missense	probably damaging	1.00
R4308:Pcdhb1	UTSW	18	37,399,714 (GRCm39)	missense	probably benign	0.00
R4332:Pcdhb1	UTSW	18	37,398,583 (GRCm39)	missense	probably damaging	1.00
R4606:Pcdhb1	UTSW	18	37,398,581 (GRCm39)	nonsense	probably null
R4637:Pcdhb1	UTSW	18	37,398,802 (GRCm39)	missense	possibly damaging	0.95
R5159:Pcdhb1	UTSW	18	37,399,416 (GRCm39)	missense	possibly damaging	0.89
R5207:Pcdhb1	UTSW	18	37,399,515 (GRCm39)	missense	probably damaging	1.00
R5211:Pcdhb1	UTSW	18	37,399,704 (GRCm39)	missense	probably benign	0.06
R5273:Pcdhb1	UTSW	18	37,398,766 (GRCm39)	missense	probably benign	0.23
R5335:Pcdhb1	UTSW	18	37,400,308 (GRCm39)	missense	probably benign	0.00
R5398:Pcdhb1	UTSW	18	37,399,207 (GRCm39)	missense	probably damaging	1.00
R5452:Pcdhb1	UTSW	18	37,398,811 (GRCm39)	missense	possibly damaging	0.94
R5837:Pcdhb1	UTSW	18	37,398,880 (GRCm39)	missense	possibly damaging	0.57
R5882:Pcdhb1	UTSW	18	37,400,230 (GRCm39)	missense	probably benign	0.05
R5947:Pcdhb1	UTSW	18	37,399,726 (GRCm39)	missense	possibly damaging	0.74
R6109:Pcdhb1	UTSW	18	37,398,306 (GRCm39)	missense	possibly damaging	0.69
R7052:Pcdhb1	UTSW	18	37,399,582 (GRCm39)	missense	probably damaging	1.00
R7082:Pcdhb1	UTSW	18	37,400,044 (GRCm39)	missense	probably damaging	0.99
R7137:Pcdhb1	UTSW	18	37,400,445 (GRCm39)	missense	possibly damaging	0.69
R7392:Pcdhb1	UTSW	18	37,398,171 (GRCm39)	missense	possibly damaging	0.95
R7993:Pcdhb1	UTSW	18	37,400,044 (GRCm39)	missense	probably damaging	1.00
R8704:Pcdhb1	UTSW	18	37,399,402 (GRCm39)	missense	possibly damaging	0.51
R9498:Pcdhb1	UTSW	18	37,398,516 (GRCm39)	missense	probably damaging	0.99
R9703:Pcdhb1	UTSW	18	37,399,019 (GRCm39)	missense	probably damaging	1.00
R9757:Pcdhb1	UTSW	18	37,400,302 (GRCm39)	missense	probably benign	0.24
T0970:Pcdhb1	UTSW	18	37,399,026 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTAACATACTCCCTGCTGCC -3'
(R):5'- CAGATATCTGCCTCAGTGTACG -3'

Sequencing Primer
(F):5'- CCAAAGAGTGGTGATCTGTCAGTC -3'
(R):5'- GATATCTGCCTCAGTGTACGTATTTC -3'

Posted On

2019-06-26