Mutagenetix > Incidental Mutation

Incidental Mutation 'R1240:Cdh6'

151957

Institutional Source

Beutler Lab

Gene Symbol

Cdh6

Ensembl Gene

ENSMUSG00000039385

Gene Name

cadherin 6

Synonyms

K-cadherin, cad6

MMRRC Submission

039307-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.204) question?

Stock #

R1240 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

13028787-13173761 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 13057541 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 260 (D260V)

Ref Sequence

ENSEMBL: ENSMUSP00000037113 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036439]

AlphaFold

P97326

PDB Structure

Crystal structure of cadherin-6 EC12 W4A [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036439
AA Change: D260V

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000037113
Gene: ENSMUSG00000039385
AA Change: D260V

Domain	Start	End	E-Value	Type
CA	76	157	7e-15	SMART
CA	181	266	9.06e-32	SMART
CA	290	382	1.14e-19	SMART
CA	405	486	8.81e-21	SMART
CA	509	596	2.82e-10	SMART
transmembrane domain	614	636	N/A	INTRINSIC
Pfam:Cadherin_C	639	783	5.6e-57	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226917

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.8%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the cadherin family of calcium-dependent glycoproteins that mediate cell adhesion and regulate many morphogenetic events during development. The encoded preproprotein is further processed to generate a mature protein. Mice lacking the encoded protein exhibit delay in mesenchyme-to-epithelial conversion and a loss of nephrons. Multiple distinct genes of the cadherin family, including this gene, are found on chromosome 15. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit delayed mesenchyme to epithelial conversion and loss of nephrons. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	G	5: 124,227,984 (GRCm39)	I86L	probably benign	Het
Ankfn1	A	G	11: 89,282,960 (GRCm39)	L229P	probably damaging	Het
Aoc1	T	C	6: 48,882,549 (GRCm39)	S164P	probably benign	Het
Arhgef28	C	T	13: 98,066,000 (GRCm39)	V1618I	probably benign	Het
Arpc3	T	C	5: 122,542,242 (GRCm39)	F88S	probably damaging	Het
Asgr2	G	T	11: 69,987,676 (GRCm39)	R58L	possibly damaging	Het
Bach2	T	C	4: 32,563,198 (GRCm39)	F432S	probably damaging	Het
Brms1l	C	A	12: 55,891,293 (GRCm39)	R116S	probably damaging	Het
Casp2	T	A	6: 42,245,879 (GRCm39)	C179S	probably damaging	Het
Ccdc73	A	T	2: 104,821,906 (GRCm39)	E618D	probably benign	Het
Cenpc1	G	T	5: 86,183,369 (GRCm39)	N473K	probably benign	Het
Chst2	T	C	9: 95,287,536 (GRCm39)	E270G	possibly damaging	Het
Chst9	C	T	18: 15,586,231 (GRCm39)	E111K	probably benign	Het
Cyp3a44	T	G	5: 145,711,250 (GRCm39)	I474L	probably benign	Het
Dbr1	G	T	9: 99,466,073 (GRCm39)	E550D	probably benign	Het
Dph6	T	C	2: 114,475,199 (GRCm39)		probably null	Het
Fam227b	T	A	2: 125,966,505 (GRCm39)	I136L	possibly damaging	Het
Fcgbp	A	G	7: 27,819,950 (GRCm39)	N2559S	probably damaging	Het
Fh1	A	T	1: 175,431,581 (GRCm39)	I435N	probably damaging	Het
Gab1	A	C	8: 81,515,159 (GRCm39)	S386R	probably damaging	Het
Gkn1	T	A	6: 87,326,098 (GRCm39)	N31Y	probably damaging	Het
Grk2	A	G	19: 4,340,707 (GRCm39)	C251R	probably damaging	Het
H2-DMa	G	T	17: 34,357,380 (GRCm39)		probably null	Het
Hp1bp3	T	C	4: 137,957,009 (GRCm39)	S63P	probably damaging	Het
Ift74	A	G	4: 94,581,174 (GRCm39)		probably null	Het
Inf2	G	A	12: 112,577,210 (GRCm39)	R1018Q	unknown	Het
Kat2b	A	G	17: 53,931,425 (GRCm39)	D141G	probably benign	Het
Klhl30	T	C	1: 91,288,737 (GRCm39)	S499P	probably benign	Het
Lama2	A	C	10: 26,917,120 (GRCm39)	D2268E	probably damaging	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Marf1	T	C	16: 13,964,626 (GRCm39)	N258S	possibly damaging	Het
Mc1r	T	A	8: 124,134,999 (GRCm39)	C251S	probably damaging	Het
Myo15b	C	A	11: 115,771,327 (GRCm39)	Q257K	possibly damaging	Het
Nbeal2	A	G	9: 110,456,176 (GRCm39)	F2431S	probably damaging	Het
Neb	T	A	2: 52,186,321 (GRCm39)	H917L	possibly damaging	Het
Nlrp1a	A	G	11: 71,004,292 (GRCm39)		probably null	Het
Nr1d2	A	T	14: 18,211,891 (GRCm38)	M404K	probably benign	Het
Or4b1d	T	G	2: 89,969,157 (GRCm39)	I109L	possibly damaging	Het
Or8u8	T	G	2: 86,012,453 (GRCm39)	M1L	possibly damaging	Het
Otoa	T	C	7: 120,755,713 (GRCm39)	S1040P	probably benign	Het
Pctp	T	C	11: 89,893,640 (GRCm39)	D10G	probably benign	Het
Pja2	G	T	17: 64,616,613 (GRCm39)	T94K	probably benign	Het
Plxna1	C	T	6: 89,298,032 (GRCm39)	V1749M	probably damaging	Het
Prdm15	C	T	16: 97,638,800 (GRCm39)	E87K	probably damaging	Het
Rgsl1	A	G	1: 153,660,937 (GRCm39)	F1028L	probably benign	Het
Sepsecs	T	C	5: 52,818,021 (GRCm39)	N252S	probably damaging	Het
Skint5	A	T	4: 113,574,304 (GRCm39)	L749Q	unknown	Het
Slc22a22	G	A	15: 57,114,268 (GRCm39)	S353F	probably benign	Het
Slc49a4	A	G	16: 35,518,379 (GRCm39)	F445L	probably benign	Het
Slc7a13	A	T	4: 19,819,212 (GRCm39)	K137N	probably damaging	Het
Snx13	G	T	12: 35,141,405 (GRCm39)	V163L	probably damaging	Het
Synrg	A	T	11: 83,914,182 (GRCm39)	T1115S	probably damaging	Het
Tenm3	A	G	8: 48,740,928 (GRCm39)	V1185A	possibly damaging	Het
Tent5b	T	C	4: 133,213,815 (GRCm39)	F229L	probably benign	Het
Tg	T	A	15: 66,700,397 (GRCm39)	N118K	probably benign	Het
Top1mt	T	C	15: 75,541,916 (GRCm39)	K153E	probably damaging	Het
Trmt11	T	C	10: 30,466,821 (GRCm39)		probably benign	Het
Unc80	A	G	1: 66,675,061 (GRCm39)	D1953G	possibly damaging	Het
Vmn2r25	T	A	6: 123,828,864 (GRCm39)	S137C	probably damaging	Het
Vwf	C	A	6: 125,580,271 (GRCm39)		probably null	Het

Other mutations in Cdh6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00560:Cdh6	APN	15	13,034,445 (GRCm39)	nonsense	probably null
IGL00675:Cdh6	APN	15	13,041,525 (GRCm39)	missense	possibly damaging	0.80
IGL01063:Cdh6	APN	15	13,064,581 (GRCm39)	missense	probably damaging	1.00
IGL01335:Cdh6	APN	15	13,051,395 (GRCm39)	missense	probably benign	0.40
IGL01351:Cdh6	APN	15	13,034,326 (GRCm39)	missense	possibly damaging	0.55
IGL02010:Cdh6	APN	15	13,034,276 (GRCm39)	utr 3 prime	probably benign
IGL02428:Cdh6	APN	15	13,064,516 (GRCm39)	missense	possibly damaging	0.94
PIT4651001:Cdh6	UTSW	15	13,044,805 (GRCm39)	missense	possibly damaging	0.69
R0124:Cdh6	UTSW	15	13,034,410 (GRCm39)	missense	probably damaging	1.00
R0256:Cdh6	UTSW	15	13,053,868 (GRCm39)	splice site	probably benign
R0696:Cdh6	UTSW	15	13,051,418 (GRCm39)	missense	probably benign	0.36
R1017:Cdh6	UTSW	15	13,051,562 (GRCm39)	missense	probably benign	0.06
R1444:Cdh6	UTSW	15	13,091,924 (GRCm39)	missense	probably benign	0.00
R2008:Cdh6	UTSW	15	13,051,562 (GRCm39)	missense	possibly damaging	0.74
R2050:Cdh6	UTSW	15	13,057,587 (GRCm39)	missense	probably benign
R2507:Cdh6	UTSW	15	13,041,447 (GRCm39)	missense	probably benign	0.10
R3082:Cdh6	UTSW	15	13,044,838 (GRCm39)	missense	probably damaging	1.00
R3083:Cdh6	UTSW	15	13,044,838 (GRCm39)	missense	probably damaging	1.00
R3903:Cdh6	UTSW	15	13,042,661 (GRCm39)	missense	probably benign	0.39
R4591:Cdh6	UTSW	15	13,051,572 (GRCm39)	missense	possibly damaging	0.69
R4859:Cdh6	UTSW	15	13,051,418 (GRCm39)	missense	probably benign	0.36
R4898:Cdh6	UTSW	15	13,034,774 (GRCm39)	missense	probably damaging	0.99
R5242:Cdh6	UTSW	15	13,064,497 (GRCm39)	missense	probably benign	0.05
R5313:Cdh6	UTSW	15	13,034,723 (GRCm39)	missense	probably damaging	1.00
R5545:Cdh6	UTSW	15	13,041,235 (GRCm39)	missense	probably damaging	1.00
R6360:Cdh6	UTSW	15	13,041,546 (GRCm39)	missense	possibly damaging	0.82
R6650:Cdh6	UTSW	15	13,051,487 (GRCm39)	missense	probably benign	0.11
R6830:Cdh6	UTSW	15	13,044,860 (GRCm39)	missense	probably benign	0.01
R7369:Cdh6	UTSW	15	13,042,724 (GRCm39)	missense	probably damaging	0.99
R7506:Cdh6	UTSW	15	13,034,396 (GRCm39)	missense	probably damaging	1.00
R8121:Cdh6	UTSW	15	13,044,757 (GRCm39)	missense	probably damaging	1.00
R8801:Cdh6	UTSW	15	13,044,847 (GRCm39)	missense	probably damaging	1.00
R8961:Cdh6	UTSW	15	13,041,447 (GRCm39)	missense	probably benign	0.12
R9218:Cdh6	UTSW	15	13,057,556 (GRCm39)	missense	probably null	0.37
R9258:Cdh6	UTSW	15	13,064,462 (GRCm39)	missense	probably damaging	1.00
R9511:Cdh6	UTSW	15	13,034,677 (GRCm39)	missense	probably damaging	1.00
R9608:Cdh6	UTSW	15	13,064,621 (GRCm39)	missense	probably damaging	1.00
R9636:Cdh6	UTSW	15	13,057,655 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GTGCCAGTTCTTCCTAAGTCCAGTG -3'
(R):5'- ACATCCTCTTATGCCACATGCCAG -3'

Sequencing Primer
(F):5'- CCAGTGATTTTGACAACAGTGCC -3'
(R):5'- TCCTTCAGTAGAAAGGCTGCG -3'

Posted On

2014-01-29