Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02234:Cdh19'

285856

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 #

IGL02234

Quality Score

Status

Chromosome

Chromosomal Location

110888326-110977584 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110932226 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 175 (D175G)

Ref Sequence

ENSEMBL: ENSMUSP00000092210 (fasta)

Gene Model

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

AlphaFold

E9Q3A7

Predicted Effect

probably damaging
Transcript: ENSMUST00000094626
AA Change: D175G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000092210
Gene: ENSMUSG00000047216
AA Change: D175G

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	T	6: 121,668,220	T1010M	possibly damaging	Het
Atr	A	G	9: 95,947,250		probably benign	Het
Cdc42bpa	A	T	1: 180,151,191	K1585*	probably null	Het
Celsr3	G	T	9: 108,829,960	R1214L	probably benign	Het
Chchd1	T	C	14: 20,703,410		probably null	Het
Col4a1	T	C	8: 11,216,713	K1165E	probably damaging	Het
Col6a4	A	G	9: 106,013,432	F1888L	possibly damaging	Het
Csmd3	C	A	15: 47,948,116	R1193L	probably damaging	Het
Cyp2d11	T	A	15: 82,390,139	H347L	probably benign	Het
Cyp4f13	A	G	17: 32,924,774		probably benign	Het
Dopey2	T	C	16: 93,752,151	V193A	probably benign	Het
Dus4l	T	C	12: 31,641,496		probably benign	Het
Epc1	G	A	18: 6,439,938	H79Y	probably damaging	Het
Gm12588	T	A	11: 121,908,325			Het
Gpr107	T	C	2: 31,177,833	Y222H	probably damaging	Het
Gzmn	C	T	14: 56,169,007		probably null	Het
Helq	A	G	5: 100,796,470	I258T	possibly damaging	Het
Hsp90ab1	T	C	17: 45,569,735	K137R	probably benign	Het
Htr1f	T	A	16: 64,926,067	R287S	probably damaging	Het
Il20ra	A	C	10: 19,749,270	D99A	probably damaging	Het
Lpp	C	T	16: 24,762,145	R204W	probably damaging	Het
Mboat7	A	G	7: 3,691,351	Y34H	probably damaging	Het
Mid2	T	C	X: 140,763,669	S646P	probably damaging	Het
Msh6	T	C	17: 87,986,801	S995P	probably damaging	Het
Mtmr10	A	G	7: 64,299,602	I108V	probably benign	Het
Muc6	G	A	7: 141,640,575	T1395M	probably benign	Het
Nlrp4f	A	G	13: 65,194,488	F448L	probably damaging	Het
Odc1	C	A	12: 17,548,620	D220E	possibly damaging	Het
Olfr1080	T	C	2: 86,553,266	N286S	probably damaging	Het
Pax7	A	G	4: 139,828,590	I189T	probably damaging	Het
Pcdh12	T	A	18: 38,283,535	H179L	probably damaging	Het
Pcdh15	A	T	10: 74,631,862	M1836L	probably benign	Het
Psmc5	T	C	11: 106,263,010	V390A	probably benign	Het
Ror2	C	T	13: 53,110,728	S764N	probably damaging	Het
Rpgrip1	A	G	14: 52,131,309		probably benign	Het
Sema5a	C	T	15: 32,679,172	R866C	probably damaging	Het
Stox2	A	G	8: 47,193,612	F271S	probably damaging	Het
Tpgs2	T	C	18: 25,149,244		probably null	Het
Ttll8	T	A	15: 88,914,049	I828F	possibly damaging	Het
Vmn1r7	T	C	6: 57,024,552	Y241C	probably damaging	Het
Zfp318	C	T	17: 46,396,810	R265*	probably null	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
IGL02251:Cdh19	APN	1	110954652	missense	probably benign	0.00
IGL02275:Cdh19	APN	1	110925886	missense	probably benign	0.21
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