Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02275:Cdh19'

287313

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cdh19

Ensembl Gene

ENSMUSG00000047216

Gene Name

cadherin 19, type 2

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02275

Quality Score

Status

Chromosome

Chromosomal Location

110888326-110977584 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 110925886 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Isoleucine at position 275 (K275I)

Ref Sequence

ENSEMBL: ENSMUSP00000092210 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094626]

AlphaFold

E9Q3A7

Predicted Effect

probably benign
Transcript: ENSMUST00000094626
AA Change: K275I

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000092210
Gene: ENSMUSG00000047216
AA Change: K275I

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
CA	64	144	2.44e-14	SMART
CA	168	252	3.21e-23	SMART
CA	276	367	6.2e-7	SMART
CA	390	466	2.69e-16	SMART
CA	489	576	6.68e-3	SMART
transmembrane domain	594	616	N/A	INTRINSIC
Pfam:Cadherin_C	619	764	1.7e-50	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one of three related type II cadherin genes situated in a cluster on chromosome 18. The encoded protein is a calcium dependent cell-cell adhesion glycoprotein containing five extracellular cadherin repeats. Loss of cadherins may be associated with cancer formation. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Aug 2012]

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700037C18Rik	T	A	16: 3,906,282	D130V	probably damaging	Het
4930596D02Rik	T	C	14: 35,811,923	T9A	probably benign	Het
Anapc1	C	A	2: 128,659,852	A757S	probably benign	Het
Bpifa6	A	T	2: 153,992,272	D328V	probably benign	Het
Casc1	T	C	6: 145,177,364	Y592C	probably damaging	Het
Col18a1	A	G	10: 77,059,383	I1148T	possibly damaging	Het
Commd1	A	T	11: 22,900,017	V222D	probably damaging	Het
Crim1	T	A	17: 78,369,998	M876K	possibly damaging	Het
Dennd1b	C	A	1: 139,081,254	H232N	probably damaging	Het
Dhx57	T	C	17: 80,274,839	T393A	probably benign	Het
Gabrb2	G	T	11: 42,591,894	R193L	probably benign	Het
Gm5828	T	A	1: 16,769,118		noncoding transcript	Het
Gm6483	C	T	8: 19,691,613	P55S	probably damaging	Het
Hsp90ab1	T	C	17: 45,568,438	Y619C	possibly damaging	Het
Kctd19	A	G	8: 105,396,374	I136T	probably damaging	Het
Olfr134	G	T	17: 38,175,686	V201L	probably benign	Het
Olfr1361	A	C	13: 21,659,000	F108V	probably benign	Het
Sel1l	T	C	12: 91,815,015	Y532C	probably damaging	Het
Sirpb1a	A	G	3: 15,410,409		probably null	Het
Ush2a	C	T	1: 188,263,269	T79M	possibly damaging	Het
Usp24	T	C	4: 106,387,493	V1215A	probably damaging	Het
Vdac3-ps1	T	C	13: 18,030,794		noncoding transcript	Het
Vmn2r75	T	C	7: 86,165,140	T382A	probably benign	Het
Vps53	T	C	11: 76,047,123	Y728C	probably benign	Het

Other mutations in Cdh19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00772:Cdh19	APN	1	110949252	missense	probably damaging	1.00
IGL00863:Cdh19	APN	1	110949144	missense	probably damaging	1.00
IGL01537:Cdh19	APN	1	110919611	missense	possibly damaging	0.73
IGL02108:Cdh19	APN	1	110889731	missense	probably benign	0.31
IGL02125:Cdh19	APN	1	110929884	missense	possibly damaging	0.94
IGL02234:Cdh19	APN	1	110932226	missense	probably damaging	1.00
IGL02251:Cdh19	APN	1	110954652	missense	probably benign	0.00
IGL03203:Cdh19	APN	1	110890098	missense	possibly damaging	0.82
R0539:Cdh19	UTSW	1	110925162	missense	possibly damaging	0.81
R0594:Cdh19	UTSW	1	110925867	missense	probably benign	0.40
R0612:Cdh19	UTSW	1	110893170	splice site	probably benign
R1028:Cdh19	UTSW	1	110954584	missense	probably benign	0.03
R1627:Cdh19	UTSW	1	110919645	missense	probably benign	0.16
R1728:Cdh19	UTSW	1	110893384	missense	probably damaging	0.98
R1729:Cdh19	UTSW	1	110893384	missense	probably damaging	0.98
R1730:Cdh19	UTSW	1	110893384	missense	probably damaging	0.98
R1739:Cdh19	UTSW	1	110893384	missense	probably damaging	0.98
R1762:Cdh19	UTSW	1	110893384	missense	probably damaging	0.98
R1783:Cdh19	UTSW	1	110893384	missense	probably damaging	0.98
R1785:Cdh19	UTSW	1	110893384	missense	probably damaging	0.98
R1974:Cdh19	UTSW	1	110890159	missense	possibly damaging	0.50
R2119:Cdh19	UTSW	1	110919590	missense	probably benign	0.00
R3026:Cdh19	UTSW	1	110954688	missense	probably benign	0.03
R3037:Cdh19	UTSW	1	110954607	missense	probably damaging	1.00
R3612:Cdh19	UTSW	1	110893296	missense	probably damaging	1.00
R4254:Cdh19	UTSW	1	110925030	missense	probably damaging	1.00
R4368:Cdh19	UTSW	1	110889712	nonsense	probably null
R4624:Cdh19	UTSW	1	110932251	missense	probably benign	0.25
R4648:Cdh19	UTSW	1	110925177	missense	probably benign	0.04
R4720:Cdh19	UTSW	1	110895381	critical splice donor site	probably null
R4766:Cdh19	UTSW	1	110893260	missense	probably benign	0.39
R4937:Cdh19	UTSW	1	110889964	missense	probably damaging	1.00
R4968:Cdh19	UTSW	1	110925228	missense	probably benign	0.08
R4970:Cdh19	UTSW	1	110954624	missense	possibly damaging	0.68
R5095:Cdh19	UTSW	1	110954661	missense	probably benign
R5112:Cdh19	UTSW	1	110954624	missense	possibly damaging	0.68
R5586:Cdh19	UTSW	1	110929857	missense	probably damaging	1.00
R6431:Cdh19	UTSW	1	110925057	missense	probably benign	0.00
R6595:Cdh19	UTSW	1	110925787	missense	probably benign	0.15
R6997:Cdh19	UTSW	1	110954866	start gained	probably benign
R7240:Cdh19	UTSW	1	110893407	missense	probably benign
R8252:Cdh19	UTSW	1	110889885	missense	probably benign	0.00
R8299:Cdh19	UTSW	1	110919548	missense	probably benign	0.01
R8416:Cdh19	UTSW	1	110925880	missense	probably benign	0.13
R8766:Cdh19	UTSW	1	110890114	missense	probably benign	0.33
R9090:Cdh19	UTSW	1	110949217	missense	probably damaging	1.00
R9177:Cdh19	UTSW	1	110949381	missense	probably damaging	1.00
R9266:Cdh19	UTSW	1	110890041	missense	probably damaging	1.00
R9268:Cdh19	UTSW	1	110949381	missense	probably damaging	1.00
R9271:Cdh19	UTSW	1	110949217	missense	probably damaging	1.00
R9533:Cdh19	UTSW	1	110889859	missense	probably damaging	1.00
R9560:Cdh19	UTSW	1	110893274	missense	possibly damaging	0.61
R9765:Cdh19	UTSW	1	110895381	critical splice donor site	probably null
Z1176:Cdh19	UTSW	1	110893306	missense	probably benign	0.00
Z1176:Cdh19	UTSW	1	110895387	missense	probably damaging	1.00
Z1176:Cdh19	UTSW	1	110932214	missense	probably damaging	0.99

Posted On

2015-04-16