Mutagenetix > Incidental Mutations

Incidental Mutation 'R1750:Pcdhb17'

193470

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb17

Ensembl Gene

ENSMUSG00000046387

Gene Name

protocadherin beta 17

Synonyms

PcdhbQ, Pcdhb16

MMRRC Submission

039782-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R1750 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37484795-37489454 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 37485711 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 185 (R185C)

Ref Sequence

ENSEMBL: ENSMUSP00000055072 (fasta)

Gene Model

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

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: R185C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000055072
Gene: ENSMUSG00000046387
AA Change: R185C

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: 97.4%
3x: 96.9%
10x: 95.2%
20x: 91.9%

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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402N03Rik	G	T	7: 131,146,130	N44K	probably benign	Het
Acd	C	A	8: 105,698,892	A270S	possibly damaging	Het
Acnat1	G	A	4: 49,451,042	T23I	probably benign	Het
Adam26a	T	G	8: 43,570,189	E88A	possibly damaging	Het
Adgrb1	G	A	15: 74,541,827	V589M	probably benign	Het
Agbl2	T	A	2: 90,816,376		probably benign	Het
Aif1	G	A	17: 35,172,151	P44L	probably benign	Het
Amh	AGCGCCTTGG	AG	10: 80,805,585		probably null	Het
Asap2	T	C	12: 21,203,998	L170P	probably damaging	Het
Btg2	T	C	1: 134,079,031	D8G	probably benign	Het
C530008M17Rik	A	G	5: 76,857,675	I628V	unknown	Het
Cacna1g	A	T	11: 94,443,292	V841E	probably damaging	Het
Cacna2d1	C	T	5: 16,264,288	P230L	probably benign	Het
Cacna2d2	A	T	9: 107,524,644	D766V	probably damaging	Het
Carns1	A	G	19: 4,173,157	W23R	possibly damaging	Het
Cdk11b	T	A	4: 155,628,680		probably null	Het
Chrna3	T	C	9: 55,016,057	S156G	probably damaging	Het
Cmya5	A	T	13: 93,095,663	N972K	probably benign	Het
Cpne7	C	A	8: 123,134,524	P541T	probably damaging	Het
Csmd1	A	T	8: 15,917,303	L3187I	probably damaging	Het
Dbt	A	G	3: 116,546,294	I404V	probably benign	Het
Dgki	A	T	6: 36,916,434	I819K	probably damaging	Het
Dip2b	T	A	15: 100,178,466	S782T	probably benign	Het
Dlc1	A	T	8: 36,858,090		probably null	Het
Dnajc13	A	T	9: 104,221,477	V459E	probably damaging	Het
Enam	A	G	5: 88,503,227	E790G	probably damaging	Het
Epb41l4a	G	C	18: 33,828,208	Y424*	probably null	Het
Extl1	A	G	4: 134,362,688	S370P	probably benign	Het
Fan1	T	C	7: 64,373,013	Y164C	probably benign	Het
Fbxw15	G	A	9: 109,558,246	S227F	probably damaging	Het
Fbxw25	A	T	9: 109,650,073	I370N	probably benign	Het
Fcgbp	T	A	7: 28,093,443	Y957*	probably null	Het
Gkap1	C	A	13: 58,237,043	E77*	probably null	Het
Gkn1	A	T	6: 87,349,123	N28K	unknown	Het
Gls2	A	G	10: 128,201,325	E245G	probably damaging	Het
Glyat	G	A	19: 12,646,315	V32I	probably benign	Het
Gm2431	A	T	7: 142,258,025	C47*	probably null	Het
Gm5431	T	C	11: 48,894,831	D239G	probably benign	Het
Gm9573	T	A	17: 35,621,048		probably benign	Het
Inpp5d	T	C	1: 87,699,081	F540L	probably damaging	Het
Kcna1	A	C	6: 126,642,808	I183S	probably benign	Het
Kpna2	G	T	11: 106,991,445	L212I	probably damaging	Het
Krt36	C	G	11: 100,104,058	R229S	probably benign	Het
Krt78	G	A	15: 101,946,377	H1000Y	probably benign	Het
Krt90	A	G	15: 101,553,365		probably benign	Het
Ldlrad4	C	A	18: 68,106,687	F59L	probably benign	Het
Lrrc3b	T	C	14: 15,358,601	N2D	probably benign	Het
Madd	T	C	2: 91,167,891	D239G	probably damaging	Het
Mapk8ip3	C	T	17: 24,914,459	G332S	probably null	Het
Mastl	A	T	2: 23,146,081	L141*	probably null	Het
Mdh1b	T	C	1: 63,719,522	N304D	probably benign	Het
Mfsd4b3	G	T	10: 39,947,933	N110K	probably benign	Het
Mtus2	T	C	5: 148,277,633	S1035P	probably damaging	Het
Myh11	T	A	16: 14,200,758	D1908V	probably damaging	Het
Myh11	T	C	16: 14,215,790	E1080G	probably damaging	Het
Mypn	A	C	10: 63,136,197	M688R	probably benign	Het
Nat8l	G	T	5: 34,000,786	C180F	probably damaging	Het
Nip7	T	A	8: 107,057,386	L86Q	probably damaging	Het
Nisch	C	T	14: 31,174,882		probably benign	Het
Nop2	A	G	6: 125,137,638	I283V	probably benign	Het
Oas1h	T	A	5: 120,871,777		probably null	Het
Olfr1118	T	C	2: 87,308,852	V41A	probably benign	Het
Olfr1141	T	A	2: 87,753,186	D269V	probably damaging	Het
Olfr117	A	C	17: 37,659,673	I220S	probably damaging	Het
Olfr1188	C	A	2: 88,560,058	D185E	possibly damaging	Het
Olfr1199	T	C	2: 88,755,773	R301G	probably benign	Het
Olfr504	A	T	7: 108,565,357	L146*	probably null	Het
Olfr901	T	A	9: 38,430,690	M136K	probably damaging	Het
P4hb	A	G	11: 120,562,720	V373A	probably damaging	Het
Pappa2	C	A	1: 158,763,150	E1645*	probably null	Het
Pcdh10	G	T	3: 45,381,881	E877*	probably null	Het
Pdcl3	T	A	1: 38,995,865	F168I	probably damaging	Het
Pde4a	T	A	9: 21,203,232	I365N	probably damaging	Het
Pdzd2	A	G	15: 12,385,864	V940A	probably damaging	Het
Picalm	T	A	7: 90,191,182	S399T	possibly damaging	Het
Pigk	A	T	3: 152,744,464	I249F	probably damaging	Het
Plxnb1	C	A	9: 109,111,768	H1570Q	probably benign	Het
Plxnc1	A	G	10: 94,799,497	Y1321H	probably damaging	Het
Ppm1g	G	A	5: 31,206,216	S114F	probably damaging	Het
Rassf4	A	G	6: 116,640,267	M259T	probably damaging	Het
Rbm47	T	C	5: 66,019,310	K557E	possibly damaging	Het
Rhobtb1	A	G	10: 69,279,406	K21R	probably damaging	Het
Selenoi	T	C	5: 30,257,773	F212S	probably benign	Het
Shc3	T	G	13: 51,449,292	Y259S	probably damaging	Het
Slc11a2	T	C	15: 100,401,287	N134S	probably damaging	Het
Slc9a7	A	T	X: 20,162,478	M368K	probably damaging	Het
Slx4ip	T	A	2: 137,046,749	C117S	probably damaging	Het
Spata31d1d	T	A	13: 59,728,695	Q342L	probably benign	Het
Spink13	T	A	18: 62,607,749	Y93F	probably damaging	Het
St6galnac5	A	T	3: 152,846,321	I203N	possibly damaging	Het
Syne2	T	A	12: 76,052,805	C5335S	probably damaging	Het
Tagap	T	A	17: 7,929,910	D173E	probably benign	Het
Tekt3	A	C	11: 63,070,041	Y12S	probably damaging	Het
Tmem81	T	A	1: 132,507,583	N42K	probably damaging	Het
Tnc	A	G	4: 63,972,735	W1728R	probably damaging	Het
Ttc30a1	C	T	2: 75,980,255	V495I	probably benign	Het
Ttc33	C	T	15: 5,212,098	R135*	probably null	Het
Ttc37	T	A	13: 76,140,601	L951Q	possibly damaging	Het
Unc5c	A	G	3: 141,827,517	D842G	possibly damaging	Het
Usp43	A	T	11: 67,879,953	H618Q	probably damaging	Het
Vmn2r50	T	G	7: 10,052,988	N64T	possibly damaging	Het
Vmn2r53	T	C	7: 12,581,705	Y729C	probably damaging	Het
Vmn2r59	T	A	7: 42,045,827	H387L	possibly damaging	Het
Vstm2a	G	T	11: 16,263,166	V184F	possibly damaging	Het
Wdr53	T	G	16: 32,252,117	N93K	probably damaging	Het
Wdr95	A	G	5: 149,581,886		probably null	Het
Xpot	A	T	10: 121,603,027		probably null	Het
Xrcc5	C	T	1: 72,325,087	Q233*	probably null	Het
Zbtb18	T	A	1: 177,447,511	C137S	possibly damaging	Het
Zfp58	C	A	13: 67,491,479	G298*	probably null	Het
Zfp963	A	G	8: 69,743,450	S118P	possibly damaging	Het
Zmynd15	A	T	11: 70,462,567	Q336L	probably benign	Het

Other mutations in Pcdhb17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00950:Pcdhb17	APN	18	37486006	unclassified	probably null
IGL01367:Pcdhb17	APN	18	37487495	missense	probably benign	0.01
IGL01923:Pcdhb17	APN	18	37486737	missense	probably benign	0.43
IGL02060:Pcdhb17	APN	18	37486416	missense	probably damaging	1.00
IGL02494:Pcdhb17	APN	18	37485294	missense	possibly damaging	0.73
IGL02654:Pcdhb17	APN	18	37486561	missense	probably benign	0.03
IGL03168:Pcdhb17	APN	18	37485772	missense	probably benign	0.15
doughnut	UTSW	18	37486936	missense	probably damaging	1.00
R0364:Pcdhb17	UTSW	18	37485835	missense	possibly damaging	0.95
R1013:Pcdhb17	UTSW	18	37485967	missense	probably damaging	1.00
R1052:Pcdhb17	UTSW	18	37486846	missense	probably damaging	1.00
R1226:Pcdhb17	UTSW	18	37487260	missense	probably damaging	1.00
R1258:Pcdhb17	UTSW	18	37485534	missense	probably damaging	0.98
R1335:Pcdhb17	UTSW	18	37486234	missense	probably damaging	1.00
R1443:Pcdhb17	UTSW	18	37486648	missense	probably benign	0.15
R1451:Pcdhb17	UTSW	18	37486936	missense	probably damaging	1.00
R1505:Pcdhb17	UTSW	18	37486822	missense	probably damaging	1.00
R1591:Pcdhb17	UTSW	18	37485825	missense	probably damaging	1.00
R1742:Pcdhb17	UTSW	18	37486576	missense	probably damaging	0.99
R1750:Pcdhb17	UTSW	18	37487017	missense	possibly damaging	0.81
R1764:Pcdhb17	UTSW	18	37487271	missense	probably damaging	1.00
R1863:Pcdhb17	UTSW	18	37486111	missense	probably benign	0.00
R1888:Pcdhb17	UTSW	18	37487385	unclassified	probably null
R1888:Pcdhb17	UTSW	18	37487385	unclassified	probably null
R2095:Pcdhb17	UTSW	18	37486322	missense	probably benign	0.14
R4565:Pcdhb17	UTSW	18	37486470	missense	probably benign	0.14
R4658:Pcdhb17	UTSW	18	37486599	missense	probably damaging	1.00
R4669:Pcdhb17	UTSW	18	37486206	missense	probably damaging	0.99
R4816:Pcdhb17	UTSW	18	37487397	missense	probably benign	0.39
R4910:Pcdhb17	UTSW	18	37485159	start codon destroyed	possibly damaging	0.90
R5209:Pcdhb17	UTSW	18	37487461	missense	probably damaging	1.00
R5248:Pcdhb17	UTSW	18	37485886	missense	probably benign	0.00
R5254:Pcdhb17	UTSW	18	37486825	missense	probably damaging	1.00
R5494:Pcdhb17	UTSW	18	37487247	missense	probably damaging	1.00
R5544:Pcdhb17	UTSW	18	37487421	missense	possibly damaging	0.61
R5952:Pcdhb17	UTSW	18	37487080	missense	probably benign	0.04
R5977:Pcdhb17	UTSW	18	37485667	missense	probably damaging	1.00
R6262:Pcdhb17	UTSW	18	37486698	missense	probably damaging	1.00
R6311:Pcdhb17	UTSW	18	37486263	unclassified	probably null
R6495:Pcdhb17	UTSW	18	37485667	missense	probably damaging	1.00
R6710:Pcdhb17	UTSW	18	37485399	missense	probably damaging	0.96
X0062:Pcdhb17	UTSW	18	37486489	missense	probably benign
X0064:Pcdhb17	UTSW	18	37486431	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTTCAGGCTGAACTGAGGGTGATG -3'
(R):5'- TGAGACTGTGAGTACCAGAGAACCG -3'

Sequencing Primer
(F):5'- GGACATAAATGACTATTCTCCGGTG -3'
(R):5'- CGGGAATTTGCACTCGGTATG -3'

Posted On

2014-05-23