Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03203:Cdh19'

413054

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 #

IGL03203

Quality Score

Status

Chromosome

Chromosomal Location

110816056-110905314 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 110817828 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 638 (C638Y)

Ref Sequence

ENSEMBL: ENSMUSP00000092210 (fasta)

Gene Model

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

AlphaFold

E9Q3A7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094626
AA Change: C638Y

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000092210
Gene: ENSMUSG00000047216
AA Change: C638Y

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	A	T	16: 30,915,163 (GRCm39)		probably benign	Het
Adamts17	T	G	7: 66,711,856 (GRCm39)	I725S	probably damaging	Het
Arhgef3	T	C	14: 27,116,073 (GRCm39)	Y292H	probably damaging	Het
Ces1c	A	T	8: 93,851,216 (GRCm39)	M136K	probably damaging	Het
Col11a1	A	G	3: 114,005,733 (GRCm39)	I482V	possibly damaging	Het
Col4a3	A	T	1: 82,650,360 (GRCm39)	K539*	probably null	Het
D630045J12Rik	A	G	6: 38,145,156 (GRCm39)	V1290A	probably damaging	Het
Ear6	T	G	14: 52,091,703 (GRCm39)	S83R	probably benign	Het
Gdf10	T	C	14: 33,656,430 (GRCm39)	V464A	possibly damaging	Het
Herc1	T	C	9: 66,296,182 (GRCm39)		probably null	Het
Katnal2	G	T	18: 77,095,220 (GRCm39)	A194E	probably damaging	Het
Lpxn	A	T	19: 12,796,770 (GRCm39)	M97L	probably benign	Het
Mn1	T	C	5: 111,569,269 (GRCm39)	S1080P	probably benign	Het
Nadk	T	C	4: 155,669,708 (GRCm39)	F89L	probably damaging	Het
Nek5	G	A	8: 22,608,784 (GRCm39)	R92W	probably damaging	Het
Nelfcd	G	A	2: 174,268,625 (GRCm39)	A559T	possibly damaging	Het
Nipal4	C	A	11: 46,041,123 (GRCm39)	L357F	probably damaging	Het
Or12d12	A	G	17: 37,611,317 (GRCm39)		probably benign	Het
Pcdhb6	A	G	18: 37,467,585 (GRCm39)	N169D	possibly damaging	Het
Plppr4	A	G	3: 117,119,540 (GRCm39)	C290R	possibly damaging	Het
Rxfp2	A	G	5: 149,987,145 (GRCm39)	D332G	probably benign	Het
Slc9b2	G	A	3: 135,031,973 (GRCm39)	D278N	probably damaging	Het
Taok1	A	G	11: 77,430,911 (GRCm39)	V838A	probably damaging	Het
Thoc1	T	A	18: 9,960,483 (GRCm39)		probably benign	Het
Usp36	C	T	11: 118,176,636 (GRCm39)	V61I	probably benign	Het
Uxs1	A	G	1: 43,846,504 (GRCm39)		probably benign	Het
Zmat4	C	T	8: 24,505,200 (GRCm39)	H147Y	probably damaging	Het

Other mutations in Cdh19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00772:Cdh19	APN	1	110,876,982 (GRCm39)	missense	probably damaging	1.00
IGL00863:Cdh19	APN	1	110,876,874 (GRCm39)	missense	probably damaging	1.00
IGL01537:Cdh19	APN	1	110,847,341 (GRCm39)	missense	possibly damaging	0.73
IGL02108:Cdh19	APN	1	110,817,461 (GRCm39)	missense	probably benign	0.31
IGL02125:Cdh19	APN	1	110,857,614 (GRCm39)	missense	possibly damaging	0.94
IGL02234:Cdh19	APN	1	110,859,956 (GRCm39)	missense	probably damaging	1.00
IGL02251:Cdh19	APN	1	110,882,382 (GRCm39)	missense	probably benign	0.00
IGL02275:Cdh19	APN	1	110,853,616 (GRCm39)	missense	probably benign	0.21
R0539:Cdh19	UTSW	1	110,852,892 (GRCm39)	missense	possibly damaging	0.81
R0594:Cdh19	UTSW	1	110,853,597 (GRCm39)	missense	probably benign	0.40
R0612:Cdh19	UTSW	1	110,820,900 (GRCm39)	splice site	probably benign
R1028:Cdh19	UTSW	1	110,882,314 (GRCm39)	missense	probably benign	0.03
R1627:Cdh19	UTSW	1	110,847,375 (GRCm39)	missense	probably benign	0.16
R1728:Cdh19	UTSW	1	110,821,114 (GRCm39)	missense	probably damaging	0.98
R1729:Cdh19	UTSW	1	110,821,114 (GRCm39)	missense	probably damaging	0.98
R1730:Cdh19	UTSW	1	110,821,114 (GRCm39)	missense	probably damaging	0.98
R1739:Cdh19	UTSW	1	110,821,114 (GRCm39)	missense	probably damaging	0.98
R1762:Cdh19	UTSW	1	110,821,114 (GRCm39)	missense	probably damaging	0.98
R1783:Cdh19	UTSW	1	110,821,114 (GRCm39)	missense	probably damaging	0.98
R1785:Cdh19	UTSW	1	110,821,114 (GRCm39)	missense	probably damaging	0.98
R1974:Cdh19	UTSW	1	110,817,889 (GRCm39)	missense	possibly damaging	0.50
R2119:Cdh19	UTSW	1	110,847,320 (GRCm39)	missense	probably benign	0.00
R3026:Cdh19	UTSW	1	110,882,418 (GRCm39)	missense	probably benign	0.03
R3037:Cdh19	UTSW	1	110,882,337 (GRCm39)	missense	probably damaging	1.00
R3612:Cdh19	UTSW	1	110,821,026 (GRCm39)	missense	probably damaging	1.00
R4254:Cdh19	UTSW	1	110,852,760 (GRCm39)	missense	probably damaging	1.00
R4368:Cdh19	UTSW	1	110,817,442 (GRCm39)	nonsense	probably null
R4624:Cdh19	UTSW	1	110,859,981 (GRCm39)	missense	probably benign	0.25
R4648:Cdh19	UTSW	1	110,852,907 (GRCm39)	missense	probably benign	0.04
R4720:Cdh19	UTSW	1	110,823,111 (GRCm39)	critical splice donor site	probably null
R4766:Cdh19	UTSW	1	110,820,990 (GRCm39)	missense	probably benign	0.39
R4937:Cdh19	UTSW	1	110,817,694 (GRCm39)	missense	probably damaging	1.00
R4968:Cdh19	UTSW	1	110,852,958 (GRCm39)	missense	probably benign	0.08
R4970:Cdh19	UTSW	1	110,882,354 (GRCm39)	missense	possibly damaging	0.68
R5095:Cdh19	UTSW	1	110,882,391 (GRCm39)	missense	probably benign
R5112:Cdh19	UTSW	1	110,882,354 (GRCm39)	missense	possibly damaging	0.68
R5586:Cdh19	UTSW	1	110,857,587 (GRCm39)	missense	probably damaging	1.00
R6431:Cdh19	UTSW	1	110,852,787 (GRCm39)	missense	probably benign	0.00
R6595:Cdh19	UTSW	1	110,853,517 (GRCm39)	missense	probably benign	0.15
R6997:Cdh19	UTSW	1	110,882,596 (GRCm39)	start gained	probably benign
R7240:Cdh19	UTSW	1	110,821,137 (GRCm39)	missense	probably benign
R8252:Cdh19	UTSW	1	110,817,615 (GRCm39)	missense	probably benign	0.00
R8299:Cdh19	UTSW	1	110,847,278 (GRCm39)	missense	probably benign	0.01
R8416:Cdh19	UTSW	1	110,853,610 (GRCm39)	missense	probably benign	0.13
R8766:Cdh19	UTSW	1	110,817,844 (GRCm39)	missense	probably benign	0.33
R9090:Cdh19	UTSW	1	110,876,947 (GRCm39)	missense	probably damaging	1.00
R9177:Cdh19	UTSW	1	110,877,111 (GRCm39)	missense	probably damaging	1.00
R9266:Cdh19	UTSW	1	110,817,771 (GRCm39)	missense	probably damaging	1.00
R9268:Cdh19	UTSW	1	110,877,111 (GRCm39)	missense	probably damaging	1.00
R9271:Cdh19	UTSW	1	110,876,947 (GRCm39)	missense	probably damaging	1.00
R9533:Cdh19	UTSW	1	110,817,589 (GRCm39)	missense	probably damaging	1.00
R9560:Cdh19	UTSW	1	110,821,004 (GRCm39)	missense	possibly damaging	0.61
R9765:Cdh19	UTSW	1	110,823,111 (GRCm39)	critical splice donor site	probably null
Z1176:Cdh19	UTSW	1	110,859,944 (GRCm39)	missense	probably damaging	0.99
Z1176:Cdh19	UTSW	1	110,823,117 (GRCm39)	missense	probably damaging	1.00
Z1176:Cdh19	UTSW	1	110,821,036 (GRCm39)	missense	probably benign	0.00

Posted On

2016-08-02