Mutagenetix > Incidental Mutation

Incidental Mutation 'R6710:Pcdhb17'

529110

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb17

Ensembl Gene

ENSMUSG00000046387

Gene Name

protocadherin beta 17

Synonyms

Pcdhb16, PcdhbQ

MMRRC Submission

044828-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R6710 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37618040-37621345 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37618452 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 81 (S81P)

Ref Sequence

ENSEMBL: ENSMUSP00000055072 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051442] [ENSMUST00000053856] [ENSMUST00000055949] [ENSMUST00000115661] [ENSMUST00000194544]

AlphaFold

Q91VD8

Predicted Effect

probably benign
Transcript: ENSMUST00000051442

SMART Domains

Protein: ENSMUSP00000056347
Gene: ENSMUSG00000047910

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
CA	46	132	7.7e-1	SMART
CA	156	241	1.93e-17	SMART
CA	265	346	4.2e-27	SMART
CA	369	450	1.08e-24	SMART
CA	474	560	3.31e-25	SMART
CA	590	671	2.87e-11	SMART
Pfam:Cadherin_C_2	687	770	4.1e-27	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000053856
AA Change: S81P

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000055072
Gene: ENSMUSG00000046387
AA Change: S81P

Domain	Start	End	E-Value	Type
Pfam:Cadherin_2	31	112	5.8e-35	PFAM
CA	155	240	2.42e-18	SMART
CA	264	345	8.03e-24	SMART
CA	368	449	5.81e-21	SMART
CA	473	559	8.15e-25	SMART
CA	589	670	6.34e-13	SMART
Pfam:Cadherin_C_2	686	770	1.8e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000055949

SMART Domains

Protein: ENSMUSP00000052113
Gene: ENSMUSG00000048347

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:Cadherin_2	30	112	3.1e-34	PFAM
CA	155	240	7.97e-19	SMART
CA	264	345	6.27e-26	SMART
CA	368	449	2.63e-19	SMART
CA	473	559	7.09e-25	SMART
CA	589	670	2.87e-11	SMART
Pfam:Cadherin_C_2	687	771	7.9e-27	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: 99.9%
3x: 99.5%
10x: 97.9%
20x: 93.7%

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	G	T	10: 87,061,923 (GRCm39)	E124D	probably benign	Het
Aph1c	T	C	9: 66,741,802 (GRCm39)	T27A	probably benign	Het
Ash2l	T	C	8: 26,309,740 (GRCm39)	I507V	possibly damaging	Het
Cela2a	C	A	4: 141,549,554 (GRCm39)	A74S	probably damaging	Het
Dcpp3	AGGCCATGCTGGCC	AGGCC	17: 24,136,572 (GRCm39)		probably benign	Het
Drc1	A	G	5: 30,520,429 (GRCm39)	D590G	possibly damaging	Het
Epn1	A	G	7: 5,100,303 (GRCm39)	E472G	probably damaging	Het
Erfe	A	G	1: 91,300,128 (GRCm39)	D318G	probably damaging	Het
Ifnar2	T	C	16: 91,190,771 (GRCm39)	C227R	probably damaging	Het
Marchf11	A	G	15: 26,387,949 (GRCm39)	Y268C	probably damaging	Het
Muc16	A	T	9: 18,553,366 (GRCm39)	I4309N	possibly damaging	Het
Nit2	A	G	16: 56,980,493 (GRCm39)	V95A	possibly damaging	Het
Nup205	T	G	6: 35,224,308 (GRCm39)	I2049S	probably benign	Het
Or2h1	T	G	17: 37,404,638 (GRCm39)	I43L	probably damaging	Het
Or7e175	C	T	9: 20,049,378 (GRCm39)	A322V	probably benign	Het
Plcg2	A	G	8: 118,284,086 (GRCm39)	I128V	probably benign	Het
Sem1	C	A	6: 6,578,497 (GRCm39)	E20*	probably null	Het
Tap1	C	T	17: 34,407,083 (GRCm39)	A77V	possibly damaging	Het
Tmem26	T	C	10: 68,559,884 (GRCm39)	L52P	probably damaging	Het
Utp3	T	C	5: 88,703,823 (GRCm39)	Y451H	probably damaging	Het
Vmn2r103	T	A	17: 20,032,239 (GRCm39)	I671N	probably damaging	Het
Zbtb39	T	A	10: 127,579,505 (GRCm39)	I693N	probably damaging	Het
Zfp174	A	G	16: 3,665,921 (GRCm39)	E62G	probably damaging	Het

Other mutations in Pcdhb17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00950:Pcdhb17	APN	18	37,619,059 (GRCm39)	splice site	probably null
IGL01367:Pcdhb17	APN	18	37,620,548 (GRCm39)	missense	probably benign	0.01
IGL01923:Pcdhb17	APN	18	37,619,790 (GRCm39)	missense	probably benign	0.43
IGL02060:Pcdhb17	APN	18	37,619,469 (GRCm39)	missense	probably damaging	1.00
IGL02494:Pcdhb17	APN	18	37,618,347 (GRCm39)	missense	possibly damaging	0.73
IGL02654:Pcdhb17	APN	18	37,619,614 (GRCm39)	missense	probably benign	0.03
IGL03168:Pcdhb17	APN	18	37,618,825 (GRCm39)	missense	probably benign	0.15
doughnut	UTSW	18	37,619,989 (GRCm39)	missense	probably damaging	1.00
miniscule	UTSW	18	37,618,720 (GRCm39)	missense	probably damaging	1.00
PIT4434001:Pcdhb17	UTSW	18	37,618,704 (GRCm39)	missense	probably damaging	1.00
R0364:Pcdhb17	UTSW	18	37,618,888 (GRCm39)	missense	possibly damaging	0.95
R1013:Pcdhb17	UTSW	18	37,619,020 (GRCm39)	missense	probably damaging	1.00
R1052:Pcdhb17	UTSW	18	37,619,899 (GRCm39)	missense	probably damaging	1.00
R1226:Pcdhb17	UTSW	18	37,620,313 (GRCm39)	missense	probably damaging	1.00
R1258:Pcdhb17	UTSW	18	37,618,587 (GRCm39)	missense	probably damaging	0.98
R1335:Pcdhb17	UTSW	18	37,619,287 (GRCm39)	missense	probably damaging	1.00
R1443:Pcdhb17	UTSW	18	37,619,701 (GRCm39)	missense	probably benign	0.15
R1451:Pcdhb17	UTSW	18	37,619,989 (GRCm39)	missense	probably damaging	1.00
R1505:Pcdhb17	UTSW	18	37,619,875 (GRCm39)	missense	probably damaging	1.00
R1591:Pcdhb17	UTSW	18	37,618,878 (GRCm39)	missense	probably damaging	1.00
R1742:Pcdhb17	UTSW	18	37,619,629 (GRCm39)	missense	probably damaging	0.99
R1750:Pcdhb17	UTSW	18	37,620,070 (GRCm39)	missense	possibly damaging	0.81
R1750:Pcdhb17	UTSW	18	37,618,764 (GRCm39)	missense	probably damaging	1.00
R1764:Pcdhb17	UTSW	18	37,620,324 (GRCm39)	missense	probably damaging	1.00
R1863:Pcdhb17	UTSW	18	37,619,164 (GRCm39)	missense	probably benign	0.00
R1888:Pcdhb17	UTSW	18	37,620,438 (GRCm39)	splice site	probably null
R1888:Pcdhb17	UTSW	18	37,620,438 (GRCm39)	splice site	probably null
R2095:Pcdhb17	UTSW	18	37,619,375 (GRCm39)	missense	probably benign	0.14
R4565:Pcdhb17	UTSW	18	37,619,523 (GRCm39)	missense	probably benign	0.14
R4658:Pcdhb17	UTSW	18	37,619,652 (GRCm39)	missense	probably damaging	1.00
R4669:Pcdhb17	UTSW	18	37,619,259 (GRCm39)	missense	probably damaging	0.99
R4816:Pcdhb17	UTSW	18	37,620,450 (GRCm39)	missense	probably benign	0.39
R4910:Pcdhb17	UTSW	18	37,618,212 (GRCm39)	start codon destroyed	possibly damaging	0.90
R5209:Pcdhb17	UTSW	18	37,620,514 (GRCm39)	missense	probably damaging	1.00
R5248:Pcdhb17	UTSW	18	37,618,939 (GRCm39)	missense	probably benign	0.00
R5254:Pcdhb17	UTSW	18	37,619,878 (GRCm39)	missense	probably damaging	1.00
R5494:Pcdhb17	UTSW	18	37,620,300 (GRCm39)	missense	probably damaging	1.00
R5544:Pcdhb17	UTSW	18	37,620,474 (GRCm39)	missense	possibly damaging	0.61
R5952:Pcdhb17	UTSW	18	37,620,133 (GRCm39)	missense	probably benign	0.04
R5977:Pcdhb17	UTSW	18	37,618,720 (GRCm39)	missense	probably damaging	1.00
R6262:Pcdhb17	UTSW	18	37,619,751 (GRCm39)	missense	probably damaging	1.00
R6311:Pcdhb17	UTSW	18	37,619,316 (GRCm39)	splice site	probably null
R6495:Pcdhb17	UTSW	18	37,618,720 (GRCm39)	missense	probably damaging	1.00
R7097:Pcdhb17	UTSW	18	37,619,566 (GRCm39)	missense	probably benign
R7122:Pcdhb17	UTSW	18	37,619,566 (GRCm39)	missense	probably benign
R7130:Pcdhb17	UTSW	18	37,618,498 (GRCm39)	missense	probably damaging	1.00
R7437:Pcdhb17	UTSW	18	37,619,145 (GRCm39)	missense	probably benign	0.01
R7642:Pcdhb17	UTSW	18	37,618,779 (GRCm39)	missense	probably damaging	1.00
R7703:Pcdhb17	UTSW	18	37,619,801 (GRCm39)	missense	probably benign	0.01
R7771:Pcdhb17	UTSW	18	37,619,962 (GRCm39)	missense	possibly damaging	0.95
R7898:Pcdhb17	UTSW	18	37,618,233 (GRCm39)	missense	probably benign	0.00
R8028:Pcdhb17	UTSW	18	37,620,502 (GRCm39)	missense	probably benign	0.03
R8299:Pcdhb17	UTSW	18	37,618,408 (GRCm39)	missense	probably damaging	0.98
R8560:Pcdhb17	UTSW	18	37,619,206 (GRCm39)	missense	possibly damaging	0.92
R8844:Pcdhb17	UTSW	18	37,618,801 (GRCm39)	missense	probably benign	0.12
R8925:Pcdhb17	UTSW	18	37,620,372 (GRCm39)	missense	probably benign	0.40
R8927:Pcdhb17	UTSW	18	37,620,372 (GRCm39)	missense	probably benign	0.40
R9050:Pcdhb17	UTSW	18	37,620,286 (GRCm39)	missense	probably damaging	1.00
R9162:Pcdhb17	UTSW	18	37,620,168 (GRCm39)	missense	probably damaging	0.97
R9243:Pcdhb17	UTSW	18	37,619,989 (GRCm39)	missense	probably damaging	1.00
R9286:Pcdhb17	UTSW	18	37,619,422 (GRCm39)	missense	probably benign	0.26
R9472:Pcdhb17	UTSW	18	37,618,919 (GRCm39)	missense	probably damaging	1.00
R9617:Pcdhb17	UTSW	18	37,618,218 (GRCm39)	missense	probably benign
R9625:Pcdhb17	UTSW	18	37,619,419 (GRCm39)	nonsense	probably null
R9646:Pcdhb17	UTSW	18	37,618,471 (GRCm39)	missense	possibly damaging	0.64
X0062:Pcdhb17	UTSW	18	37,619,542 (GRCm39)	missense	probably benign
X0064:Pcdhb17	UTSW	18	37,619,484 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGGAGACTGCATGGATGTGC -3'
(R):5'- TCTTTCACTGAACACCGGAG -3'

Sequencing Primer
(F):5'- CATGGATGTGCAATCTGAGAC -3'
(R):5'- TCTTTCACTGAACACCGGAGAATAG -3'

Posted On

2018-07-24