Mutagenetix > Incidental Mutation

Incidental Mutation 'R1764:Pcdhb17'

193333

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb17

Ensembl Gene

ENSMUSG00000046387

Gene Name

protocadherin beta 17

Synonyms

Pcdhb16, PcdhbQ

MMRRC Submission

039796-MU

Accession Numbers

Essential gene?

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

Stock #

R1764 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37618040-37621345 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37620324 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 705 (S705P)

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: S705P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000055072
Gene: ENSMUSG00000046387
AA Change: S705P

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

Meta Mutation Damage Score

0.3838

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 92.2%

Validation Efficiency

94% (94/100)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	G	5: 109,884,655 (GRCm39)	V401A	probably benign	Het
Abca7	G	T	10: 79,844,784 (GRCm39)	W1502L	probably damaging	Het
Adcy7	A	G	8: 89,035,468 (GRCm39)	E124G	probably benign	Het
Aif1l	G	A	2: 31,855,118 (GRCm39)	E66K	probably benign	Het
Aldh8a1	A	T	10: 21,271,392 (GRCm39)	M373L	probably benign	Het
Alg6	T	C	4: 99,629,815 (GRCm39)	Y131H	probably benign	Het
Arhgef6	T	C	X: 56,383,922 (GRCm39)	M5V	probably benign	Het
Arrdc4	A	T	7: 68,391,622 (GRCm39)	I215K	probably damaging	Het
Asb4	A	G	6: 5,390,798 (GRCm39)		probably null	Het
Astn1	T	C	1: 158,331,821 (GRCm39)	I305T	probably benign	Het
Atp5f1b	T	A	10: 127,919,949 (GRCm39)		probably benign	Het
Atp8a1	C	A	5: 67,788,910 (GRCm39)	M1044I	probably benign	Het
Atp9b	C	T	18: 80,952,806 (GRCm39)		probably null	Het
Brd10	T	A	19: 29,696,560 (GRCm39)	T978S	possibly damaging	Het
Btaf1	A	G	19: 36,928,518 (GRCm39)	H113R	probably benign	Het
C87436	G	T	6: 86,430,594 (GRCm39)	C338F	possibly damaging	Het
Casz1	T	C	4: 149,027,357 (GRCm39)		probably benign	Het
Cbr3	T	A	16: 93,487,370 (GRCm39)	H184Q	probably damaging	Het
Cct8l1	T	C	5: 25,722,097 (GRCm39)	S271P	possibly damaging	Het
Cdc34	A	G	10: 79,521,174 (GRCm39)	K77R	probably benign	Het
Cdc34	G	T	10: 79,521,172 (GRCm39)		probably null	Het
Cdh20	A	G	1: 104,862,070 (GRCm39)		probably benign	Het
Celsr3	A	G	9: 108,706,157 (GRCm39)	E880G	probably damaging	Het
Cers1	T	G	8: 70,774,141 (GRCm39)		probably null	Het
Cntn5	T	C	9: 9,673,988 (GRCm39)	I705V	probably benign	Het
Dennd4c	T	A	4: 86,721,247 (GRCm39)	D636E	probably damaging	Het
Dnah11	T	C	12: 118,154,560 (GRCm39)	E240G	probably benign	Het
Dnah2	T	C	11: 69,314,369 (GRCm39)	Y4100C	probably damaging	Het
Dpysl3	T	C	18: 43,496,583 (GRCm39)	E151G	probably damaging	Het
Efcab9	T	G	11: 32,474,457 (GRCm39)	T9P	possibly damaging	Het
Eif4g2	A	T	7: 110,673,694 (GRCm39)	F725Y	probably damaging	Het
Epha6	T	A	16: 59,596,091 (GRCm39)	I867F	probably null	Het
Erbin	T	C	13: 103,979,959 (GRCm39)		probably benign	Het
Evi5l	A	G	8: 4,253,560 (GRCm39)	E468G	probably damaging	Het
Filip1l	C	T	16: 57,390,401 (GRCm39)	R330W	probably damaging	Het
Fmo3	C	T	1: 162,786,142 (GRCm39)	V283M	possibly damaging	Het
Gabarapl1	A	T	6: 129,510,481 (GRCm39)	K24N	possibly damaging	Het
Gigyf1	C	T	5: 137,520,770 (GRCm39)		probably benign	Het
Gm5581	T	A	6: 131,158,362 (GRCm39)		noncoding transcript	Het
Gon4l	G	T	3: 88,799,906 (GRCm39)	K850N	probably damaging	Het
Igf2bp3	C	T	6: 49,085,980 (GRCm39)	R233H	probably damaging	Het
Iqcf4	G	A	9: 106,445,893 (GRCm39)	R85C	probably benign	Het
Kalrn	C	T	16: 34,033,243 (GRCm39)	R473Q	probably damaging	Het
Lmod2	T	A	6: 24,603,376 (GRCm39)	V117E	probably damaging	Het
Mapk11	A	G	15: 89,028,594 (GRCm39)		probably null	Het
Mcm3	G	A	1: 20,876,103 (GRCm39)	R664C	probably damaging	Het
Mex3d	A	G	10: 80,222,770 (GRCm39)	M162T	probably benign	Het
Mrgprb3	A	G	7: 48,292,771 (GRCm39)	I260T	probably benign	Het
Ncor2	G	T	5: 125,105,679 (GRCm39)	A1637D	possibly damaging	Het
Nedd4	T	A	9: 72,638,189 (GRCm39)	D441E	probably damaging	Het
Nek5	A	T	8: 22,599,928 (GRCm39)	C194S	probably damaging	Het
Nos1ap	T	C	1: 170,146,447 (GRCm39)	D369G	possibly damaging	Het
Ntrk1	G	T	3: 87,687,391 (GRCm39)	T681K	probably damaging	Het
Or13a24	T	C	7: 140,154,383 (GRCm39)	W106R	probably damaging	Het
Or4f14	A	G	2: 111,742,526 (GRCm39)	F250L	possibly damaging	Het
Otogl	C	T	10: 107,735,322 (GRCm39)	W154*	probably null	Het
Pcdh20	T	C	14: 88,706,620 (GRCm39)	T227A	possibly damaging	Het
Piezo2	T	C	18: 63,257,713 (GRCm39)	H335R	possibly damaging	Het
Pkn2	T	C	3: 142,499,615 (GRCm39)	Q954R	probably damaging	Het
Pramel23	C	A	4: 143,424,840 (GRCm39)	C201F	probably benign	Het
Prkcq	G	A	2: 11,237,442 (GRCm39)	V74M	probably damaging	Het
Prkrip1	A	T	5: 136,218,489 (GRCm39)		probably null	Het
Pttg1ip2	A	T	5: 5,528,943 (GRCm39)	I24N	possibly damaging	Het
Rb1cc1	A	G	1: 6,284,904 (GRCm39)		probably benign	Het
Rbm5	A	T	9: 107,644,763 (GRCm39)	Y11*	probably null	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Het
Ryr3	C	A	2: 112,690,805 (GRCm39)	V1082L	probably damaging	Het
Scart2	A	G	7: 139,877,178 (GRCm39)	E831G	probably benign	Het
Sel1l3	C	A	5: 53,327,789 (GRCm39)	E497*	probably null	Het
Serpina6	A	T	12: 103,620,182 (GRCm39)	I189N	probably damaging	Het
Serpinb11	A	T	1: 107,304,532 (GRCm39)	T166S	probably benign	Het
Skint7	T	C	4: 111,839,270 (GRCm39)	L188S	probably benign	Het
Slc25a45	C	T	19: 5,934,958 (GRCm39)	A269V	probably damaging	Het
Sltm	A	G	9: 70,469,082 (GRCm39)	T114A	probably benign	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Spen	C	A	4: 141,200,261 (GRCm39)	V2766L	probably damaging	Het
Srgap2	T	A	1: 131,247,275 (GRCm39)	I445F	possibly damaging	Het
Stox2	A	T	8: 47,647,051 (GRCm39)	Y200*	probably null	Het
Strada	C	A	11: 106,055,010 (GRCm39)	R384L	probably damaging	Het
Tctn2	G	A	5: 124,757,094 (GRCm39)		noncoding transcript	Het
Tgfbr3l	G	T	8: 4,299,282 (GRCm39)	R461L	probably benign	Het
Tmem65	A	G	15: 58,661,998 (GRCm39)		probably benign	Het
Tpst1	G	T	5: 130,143,343 (GRCm39)	V294F	possibly damaging	Het
Trim23	A	G	13: 104,335,126 (GRCm39)	Y384C	probably damaging	Het
Ube3b	C	G	5: 114,542,678 (GRCm39)	L512V	possibly damaging	Het
Ubxn4	T	A	1: 128,183,916 (GRCm39)	V92E	probably damaging	Het
Vmn2r57	A	T	7: 41,050,067 (GRCm39)	C561S	probably damaging	Het
Vwa8	A	G	14: 79,145,635 (GRCm39)	D104G	probably damaging	Het
Wdr25	T	A	12: 108,992,364 (GRCm39)	L73*	probably null	Het
Wnt9a	G	A	11: 59,221,728 (GRCm39)	A209T	probably benign	Het
Zcchc17	A	C	4: 130,223,388 (GRCm39)	C133G	probably damaging	Het
Zdhhc18	T	A	4: 133,335,987 (GRCm39)	M375L	probably benign	Het
Zfhx3	T	C	8: 109,678,276 (GRCm39)	F3109L	probably benign	Het
Zfp202	T	A	9: 40,121,762 (GRCm39)	D286E	probably benign	Het
Zzef1	T	C	11: 72,784,158 (GRCm39)	L2021P	probably benign	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
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'- AGAATGCCTGGCTGTCATTCCAAC -3'
(R):5'- ACTCACTGGTCCCAGAAGAATCGC -3'

Sequencing Primer
(F):5'- TCCTGCTGGTCAAGGACAATG -3'
(R):5'- GTCCCAGAAGAATCGCCCATC -3'

Posted On

2014-05-23