Mutagenetix > Incidental Mutation

Incidental Mutation 'R6288:Cdhr17'

531231

Institutional Source

Beutler Lab

Gene Symbol

Cdhr17

Ensembl Gene

ENSMUSG00000109903

Gene Name

cadherin related family member 17

Synonyms

Gm28710

MMRRC Submission

044458-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R6288 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

16996789-17087437 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 17061283 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 738 (C738S)

Ref Sequence

ENSEMBL: ENSMUSP00000147354 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000211738]

AlphaFold

A0A1B0GR31

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211738
AA Change: C738S

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

97% (32/33)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	G	T	11: 58,184,421 (GRCm39)	D380Y	probably damaging	Het
4931406B18Rik	T	A	7: 43,147,549 (GRCm39)	E274V	probably damaging	Het
Ankrd44	A	G	1: 54,802,922 (GRCm39)	L192P	probably damaging	Het
Apbb1	T	A	7: 105,208,434 (GRCm39)	I624F	probably damaging	Het
Asxl2	A	G	12: 3,526,040 (GRCm39)	K219E	possibly damaging	Het
Bean1	T	A	8: 104,937,622 (GRCm39)	L33Q	probably damaging	Het
Col22a1	T	C	15: 71,766,718 (GRCm39)		probably null	Het
Col6a4	T	C	9: 105,945,462 (GRCm39)	D884G	probably damaging	Het
Crocc2	A	G	1: 93,122,227 (GRCm39)	R707G	probably benign	Het
Cts7	C	T	13: 61,500,584 (GRCm39)	G321E	probably damaging	Het
Cyp2d9	C	T	15: 82,340,616 (GRCm39)	H422Y	probably damaging	Het
Epha2	C	T	4: 141,044,344 (GRCm39)	A382V	probably benign	Het
Fam151a	A	C	4: 106,605,341 (GRCm39)	T568P	probably damaging	Het
Fbln2	A	T	6: 91,210,263 (GRCm39)	Y69F	probably damaging	Het
Flg2	A	T	3: 93,111,092 (GRCm39)	H1040L	unknown	Het
Gucy2g	T	C	19: 55,215,945 (GRCm39)	T476A	probably benign	Het
H3c7	A	G	13: 23,728,664 (GRCm39)	T4A	probably benign	Het
Ighv1-20	C	T	12: 114,687,519 (GRCm39)	G75D	probably benign	Het
Inpp5b	G	A	4: 124,679,020 (GRCm39)	V476I	probably benign	Het
Nrxn2	T	A	19: 6,540,591 (GRCm39)	L855Q	probably damaging	Het
Or52ab2	A	G	7: 102,970,286 (GRCm39)	I223V	probably damaging	Het
Or8h7	A	G	2: 86,721,226 (GRCm39)	F98L	probably benign	Het
Pcolce2	T	A	9: 95,563,646 (GRCm39)	Y211N	probably damaging	Het
Phf21b	A	C	15: 84,739,272 (GRCm39)		probably benign	Het
Rbm8a2	T	C	1: 175,806,111 (GRCm39)	E122G	probably benign	Het
Rimbp3	C	T	16: 17,030,772 (GRCm39)	P1399S	probably benign	Het
Slc38a1	A	G	15: 96,484,759 (GRCm39)	V267A	probably benign	Het
Sox11	A	G	12: 27,392,332 (GRCm39)	F26L	possibly damaging	Het
Ssbp3	T	A	4: 106,903,277 (GRCm39)		probably null	Het
Trim12c	C	T	7: 103,995,936 (GRCm39)	V146I	probably benign	Het
Trrap	C	A	5: 144,748,802 (GRCm39)	T1543K	probably damaging	Het
Zfp473	C	A	7: 44,382,958 (GRCm39)	K457N	probably damaging	Het

Other mutations in Cdhr17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R6134:Cdhr17	UTSW	5	17,029,683 (GRCm39)	missense	probably damaging	0.99
R6261:Cdhr17	UTSW	5	17,017,183 (GRCm39)	splice site	noncoding transcript
R6826:Cdhr17	UTSW	5	17,013,292 (GRCm39)	missense	unknown
R6980:Cdhr17	UTSW	5	17,031,944 (GRCm39)	missense	possibly damaging	0.92
R7224:Cdhr17	UTSW	5	17,041,592 (GRCm39)	missense	possibly damaging	0.92
R7310:Cdhr17	UTSW	5	17,075,246 (GRCm39)	missense	possibly damaging	0.96
R7411:Cdhr17	UTSW	5	17,029,763 (GRCm39)	missense	possibly damaging	0.95
R7798:Cdhr17	UTSW	5	17,061,656 (GRCm39)	missense	possibly damaging	0.85
R7915:Cdhr17	UTSW	5	17,032,012 (GRCm39)	missense	probably benign	0.00
R8347:Cdhr17	UTSW	5	17,006,572 (GRCm39)	missense	probably benign	0.00
R8868:Cdhr17	UTSW	5	17,028,152 (GRCm39)	missense	probably benign	0.09
R9109:Cdhr17	UTSW	5	16,997,909 (GRCm39)	missense	possibly damaging	0.86
R9153:Cdhr17	UTSW	5	17,040,916 (GRCm39)	critical splice acceptor site	probably null
R9200:Cdhr17	UTSW	5	17,006,659 (GRCm39)	critical splice donor site	probably null
R9261:Cdhr17	UTSW	5	17,006,547 (GRCm39)	missense	possibly damaging	0.96
R9298:Cdhr17	UTSW	5	16,996,855 (GRCm39)	nonsense	probably null
R9462:Cdhr17	UTSW	5	17,027,213 (GRCm39)	missense
Z1177:Cdhr17	UTSW	5	17,061,722 (GRCm39)	missense	probably damaging	1.00
Z1177:Cdhr17	UTSW	5	17,040,977 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- AGGTGAGGAATCTCTCATGTGC -3'
(R):5'- GCACCTTCTCTCCAAAGTATGAAC -3'

Sequencing Primer
(F):5'- GAGGAATCTCTCATGTGCACTCG -3'
(R):5'- CTTCTCTCCAAAGTATGAACTGATTG -3'

Posted On

2018-08-07