Mutagenetix > Incidental Mutation

Incidental Mutation 'R1258:Pcdhb17'

151529

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb17

Ensembl Gene

ENSMUSG00000046387

Gene Name

protocadherin beta 17

Synonyms

Pcdhb16, PcdhbQ

MMRRC Submission

039325-MU

Accession Numbers

Essential gene?

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

Stock #

R1258 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37618040-37621345 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37618587 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 126 (I126L)

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: I126L

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000055072
Gene: ENSMUSG00000046387
AA Change: I126L

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: 99.1%
3x: 98.4%
10x: 96.7%
20x: 94.0%

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: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam12	T	C	7: 133,539,176 (GRCm39)	E112G	probably damaging	Het
Ccar2	T	C	14: 70,390,122 (GRCm39)	N17D	probably benign	Het
Dnajc9	G	A	14: 20,438,765 (GRCm39)		probably null	Het
Igsf9	G	A	1: 172,319,722 (GRCm39)	R339H	probably benign	Het
Inpp5a	G	T	7: 139,105,660 (GRCm39)	G212C	probably damaging	Het
Itsn2	A	G	12: 4,723,464 (GRCm39)	E1133G	probably damaging	Het
Ltbp1	A	G	17: 75,532,280 (GRCm39)	Q118R	possibly damaging	Het
Qtrt2	A	G	16: 43,689,446 (GRCm39)	V184A	possibly damaging	Het
Rfwd3	C	T	8: 112,014,874 (GRCm39)	R326Q	probably damaging	Het
Sall3	G	A	18: 81,017,280 (GRCm39)	A216V	probably damaging	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
St8sia6	T	C	2: 13,661,695 (GRCm39)	M379V	probably benign	Het
Ubr4	T	A	4: 139,154,225 (GRCm39)	L2144H	probably damaging	Het
Ypel1	A	T	16: 16,923,917 (GRCm39)	L44H	probably damaging	Het
Ythdf1	C	A	2: 180,553,103 (GRCm39)	A371S	probably benign	Het
Zdhhc16	G	A	19: 41,926,483 (GRCm39)	V89M	possibly damaging	Het
Zfp37	A	T	4: 62,110,054 (GRCm39)	Y375N	probably damaging	Het
Zmat3	A	T	3: 32,397,820 (GRCm39)	N147K	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
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
R6710:Pcdhb17	UTSW	18	37,618,452 (GRCm39)	missense	probably damaging	0.96
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'- TGGACCTGGCAGAGATATCCAATCG -3'
(R):5'- TTCAATGAGAACCTGTGCCGTCCC -3'

Sequencing Primer
(F):5'- GGCTCGGATCATTTCCCAAG -3'
(R):5'- TGTCAGAGTTAACCTCAGCTCAG -3'

Posted On

2014-01-29