Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02588:Cdh15'

299620

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cdh15

Ensembl Gene

ENSMUSG00000031962

Gene Name

cadherin 15

Synonyms

M cadherin, Mcad, Cdh14

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02588

Quality Score

Status

Chromosome

Chromosomal Location

122847966-122867397 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 122856552 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 31 (Y31*)

Ref Sequence

ENSEMBL: ENSMUSP00000034443 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034443] [ENSMUST00000127664]

Predicted Effect

probably null
Transcript: ENSMUST00000034443
AA Change: Y31*

SMART Domains

Protein: ENSMUSP00000034443
Gene: ENSMUSG00000031962
AA Change: Y31*

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
CA	64	149	5.95e-18	SMART
CA	173	257	3.09e-25	SMART
CA	280	373	2.5e-11	SMART
CA	396	480	3.45e-14	SMART
Pfam:Cadherin	486	579	5.2e-9	PFAM
transmembrane domain	603	625	N/A	INTRINSIC
Pfam:Cadherin_C	633	783	6.7e-50	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127664

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	104	287	7.4e-31	PFAM
Pfam:Glyco_transf_7C	261	331	4.9e-8	PFAM
RICIN	406	531	9.28e-27	SMART

Coding Region Coverage

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. Based on the expression of this gene in skeletal muscle, satellite cells and cerebellum, it was postulated that the encoded protein may be important for muscle development and regeneration. Mice lacking the encoded protein appear normal and display no discernible defects in skeletal musculature. Multiple distinct genes of the cadherin family, including this gene, are found on chromosome 8. [provided by RefSeq, Nov 2015]
PHENOTYPE: Homozygous null mice are viable, fertile, and show no apparent defects in the development, maintenance, or regeneration of skeletal muscle or in the cerebellum. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap6	G	A	12: 52,886,499	W258*	probably null	Het
Ankmy2	T	C	12: 36,176,686		probably benign	Het
Arhgap26	G	T	18: 38,601,617		probably benign	Het
Aspscr1	A	G	11: 120,677,531	D60G	possibly damaging	Het
Cnih3	A	G	1: 181,409,704	R76G	probably benign	Het
Cplx1	C	A	5: 108,525,423	R44L	possibly damaging	Het
Dhx57	T	A	17: 80,268,871	I597F	probably damaging	Het
Dnah17	G	T	11: 118,025,653	F4231L	possibly damaging	Het
Dst	T	G	1: 34,117,484	L173R	probably damaging	Het
Fam84b	T	C	15: 60,823,150	D249G	probably damaging	Het
Fezf2	A	T	14: 12,343,687	Y353N	probably damaging	Het
Ghrhr	T	A	6: 55,383,410	L247Q	probably damaging	Het
Gm10912	C	T	2: 104,066,852		probably benign	Het
Gpcpd1	A	T	2: 132,534,753	L541H	probably damaging	Het
Gpld1	C	T	13: 24,943,699	T28I	probably damaging	Het
Lmf2	A	T	15: 89,355,406		probably null	Het
Mex3c	A	G	18: 73,590,045	N403S	probably damaging	Het
Nlrp1b	A	T	11: 71,182,279	L246*	probably null	Het
Nlrp2	A	T	7: 5,327,552	L615*	probably null	Het
Nlrp4c	A	T	7: 6,084,648	D760V	probably benign	Het
Nlrp4g	T	C	9: 124,348,843		noncoding transcript	Het
Nr2f1	C	A	13: 78,195,156		probably benign	Het
Nuggc	T	A	14: 65,617,777		probably benign	Het
Olfr1228	T	C	2: 89,249,698		probably benign	Het
Olfr646	C	T	7: 104,107,053	T258I	possibly damaging	Het
Papolg	T	A	11: 23,890,252	I75F	probably damaging	Het
Pcdhgc5	A	G	18: 37,821,950	Y759C	probably damaging	Het
Pdp2	A	G	8: 104,594,904	K462E	possibly damaging	Het
Plod1	A	T	4: 147,913,290	L654*	probably null	Het
Ppp4r3b	G	T	11: 29,198,853	G25*	probably null	Het
Ptch1	T	C	13: 63,511,918	D1307G	probably benign	Het
Ranbp17	A	G	11: 33,217,361	V1034A	probably benign	Het
Rbl2	T	A	8: 91,087,084	L319Q	probably damaging	Het
Retnlg	A	G	16: 48,872,892	T11A	probably benign	Het
Rfc3	A	T	5: 151,642,916	F356Y	possibly damaging	Het
Rnf213	G	T	11: 119,416,536	C674F	probably benign	Het
Shcbp1l	A	G	1: 153,428,665	K157E	probably benign	Het
Slc22a17	A	G	14: 54,907,994	C233R	probably damaging	Het
Slc38a9	A	G	13: 112,697,977		probably null	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
St14	C	A	9: 31,090,033		probably benign	Het
Sympk	G	A	7: 19,042,625	V481M	probably benign	Het
Timeless	T	A	10: 128,243,334	L350Q	probably damaging	Het
Tnfrsf1a	A	G	6: 125,360,766	I229V	probably benign	Het
Ugt3a2	A	T	15: 9,361,456	H106L	probably benign	Het
Zbtb45	A	T	7: 13,006,277	C470*	probably null	Het

Other mutations in Cdh15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01329:Cdh15	APN	8	122865323	intron	probably benign
IGL01958:Cdh15	APN	8	122859350	missense	probably damaging	1.00
IGL02793:Cdh15	APN	8	122860982	missense	probably damaging	1.00
IGL02947:Cdh15	APN	8	122865372	missense	probably benign	0.00
R0310:Cdh15	UTSW	8	122865436	missense	probably damaging	1.00
R0441:Cdh15	UTSW	8	122860966	missense	probably damaging	1.00
R0766:Cdh15	UTSW	8	122861449	intron	probably benign
R0898:Cdh15	UTSW	8	122857495	missense	probably damaging	1.00
R1023:Cdh15	UTSW	8	122865200	missense	probably damaging	0.98
R1054:Cdh15	UTSW	8	122864337	missense	possibly damaging	0.85
R1072:Cdh15	UTSW	8	122862024	missense	probably damaging	1.00
R1081:Cdh15	UTSW	8	122857495	missense	probably damaging	1.00
R1101:Cdh15	UTSW	8	122860846	missense	possibly damaging	0.93
R1208:Cdh15	UTSW	8	122857495	missense	probably damaging	1.00
R1208:Cdh15	UTSW	8	122857495	missense	probably damaging	1.00
R1209:Cdh15	UTSW	8	122857495	missense	probably damaging	1.00
R1210:Cdh15	UTSW	8	122857495	missense	probably damaging	1.00
R1312:Cdh15	UTSW	8	122861449	intron	probably benign
R1317:Cdh15	UTSW	8	122857495	missense	probably damaging	1.00
R1318:Cdh15	UTSW	8	122857495	missense	probably damaging	1.00
R1393:Cdh15	UTSW	8	122857495	missense	probably damaging	1.00
R1428:Cdh15	UTSW	8	122857495	missense	probably damaging	1.00
R1429:Cdh15	UTSW	8	122857495	missense	probably damaging	1.00
R1695:Cdh15	UTSW	8	122862016	missense	probably benign	0.05
R2157:Cdh15	UTSW	8	122862024	missense	probably damaging	1.00
R2170:Cdh15	UTSW	8	122862024	missense	probably damaging	1.00
R2178:Cdh15	UTSW	8	122864976	splice site	probably null
R2252:Cdh15	UTSW	8	122857422	missense	probably damaging	1.00
R2290:Cdh15	UTSW	8	122859317	missense	probably damaging	1.00
R2317:Cdh15	UTSW	8	122856635	missense	probably benign	0.10
R2330:Cdh15	UTSW	8	122856635	missense	probably benign	0.10
R2345:Cdh15	UTSW	8	122856635	missense	probably benign	0.10
R2349:Cdh15	UTSW	8	122856635	missense	probably benign	0.10
R2353:Cdh15	UTSW	8	122862024	missense	probably damaging	1.00
R2354:Cdh15	UTSW	8	122862024	missense	probably damaging	1.00
R2566:Cdh15	UTSW	8	122862024	missense	probably damaging	1.00
R2567:Cdh15	UTSW	8	122862024	missense	probably damaging	1.00
R2568:Cdh15	UTSW	8	122862024	missense	probably damaging	1.00
R2893:Cdh15	UTSW	8	122856635	missense	probably benign	0.10
R2894:Cdh15	UTSW	8	122856635	missense	probably benign	0.10
R2937:Cdh15	UTSW	8	122862024	missense	probably damaging	1.00
R2938:Cdh15	UTSW	8	122862024	missense	probably damaging	1.00
R2990:Cdh15	UTSW	8	122862024	missense	probably damaging	1.00
R2992:Cdh15	UTSW	8	122862024	missense	probably damaging	1.00
R2993:Cdh15	UTSW	8	122862024	missense	probably damaging	1.00
R3029:Cdh15	UTSW	8	122862024	missense	probably damaging	1.00
R3030:Cdh15	UTSW	8	122862024	missense	probably damaging	1.00
R3195:Cdh15	UTSW	8	122856635	missense	probably benign	0.10
R3441:Cdh15	UTSW	8	122862024	missense	probably damaging	1.00
R3442:Cdh15	UTSW	8	122862024	missense	probably damaging	1.00
R3608:Cdh15	UTSW	8	122862024	missense	probably damaging	1.00
R3686:Cdh15	UTSW	8	122862024	missense	probably damaging	1.00
R4119:Cdh15	UTSW	8	122863423	missense	probably damaging	1.00
R4120:Cdh15	UTSW	8	122863423	missense	probably damaging	1.00
R4477:Cdh15	UTSW	8	122864676	missense	probably benign	0.00
R4478:Cdh15	UTSW	8	122864676	missense	probably benign	0.00
R4480:Cdh15	UTSW	8	122864676	missense	probably benign	0.00
R4580:Cdh15	UTSW	8	122865158	missense	probably damaging	0.99
R4583:Cdh15	UTSW	8	122865028	missense	probably damaging	0.98
R4619:Cdh15	UTSW	8	122860873	missense	probably damaging	1.00
R4694:Cdh15	UTSW	8	122862024	missense	probably damaging	1.00
R4731:Cdh15	UTSW	8	122862024	missense	probably damaging	1.00
R5076:Cdh15	UTSW	8	122864348	missense	possibly damaging	0.82
R5347:Cdh15	UTSW	8	122862063	missense	probably null	1.00
R5375:Cdh15	UTSW	8	122865100	missense	probably damaging	1.00
R5498:Cdh15	UTSW	8	122865178	missense	possibly damaging	0.79
R5778:Cdh15	UTSW	8	122856587	missense	possibly damaging	0.80
R6320:Cdh15	UTSW	8	122864347	missense	probably benign	0.01
R6570:Cdh15	UTSW	8	122857391	missense	probably damaging	1.00
R6708:Cdh15	UTSW	8	122863555	missense	probably benign	0.32

Posted On

2015-04-16