Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00863:Cdh19'

9544

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 #

IGL00863

Quality Score

Status

Chromosome

Chromosomal Location

110816056-110905314 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 110876874 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 155 (V155A)

Ref Sequence

ENSEMBL: ENSMUSP00000092210 (fasta)

Gene Model

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

AlphaFold

E9Q3A7

Predicted Effect

probably damaging
Transcript: ENSMUST00000094626
AA Change: V155A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000092210
Gene: ENSMUSG00000047216
AA Change: V155A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187555

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
Bsn	A	G	9: 107,992,521 (GRCm39)	I1077T	probably damaging	Het
Car8	A	G	4: 8,183,251 (GRCm39)		probably null	Het
Ccdc192	A	T	18: 57,727,158 (GRCm39)	E136V	probably damaging	Het
Ccny	A	T	18: 9,345,444 (GRCm39)	D143E	probably benign	Het
Cript	T	A	17: 87,335,151 (GRCm39)	I14N	probably damaging	Het
Crygd	C	T	1: 65,101,250 (GRCm39)	R115Q	probably benign	Het
Cyria	A	T	12: 12,409,235 (GRCm39)	I72F	probably benign	Het
Eef1b2	G	A	1: 63,217,665 (GRCm39)	G91R	probably damaging	Het
Fbln5	A	G	12: 101,776,175 (GRCm39)	V60A	probably damaging	Het
Fbn1	T	A	2: 125,245,139 (GRCm39)	E249D	possibly damaging	Het
G6pc1	G	T	11: 101,261,549 (GRCm39)	R83L	probably damaging	Het
Grik2	A	G	10: 49,232,024 (GRCm39)	V502A	possibly damaging	Het
Heatr1	T	C	13: 12,450,009 (GRCm39)	V2001A	probably benign	Het
Il4i1	T	A	7: 44,487,470 (GRCm39)	Y148*	probably null	Het
Jmjd4	T	C	11: 59,341,569 (GRCm39)	S113P	probably benign	Het
Nceh1	C	T	3: 27,295,462 (GRCm39)	P241L	probably damaging	Het
Pals1	A	G	12: 78,856,595 (GRCm39)	D146G	probably damaging	Het
Pcdh10	T	A	3: 45,334,737 (GRCm39)	D350E	probably damaging	Het
Pdgfrl	A	G	8: 41,438,571 (GRCm39)	E169G	probably damaging	Het
Ppm1l	T	A	3: 69,225,283 (GRCm39)	D128E	probably damaging	Het
Rasa1	A	G	13: 85,436,548 (GRCm39)	V160A	probably benign	Het
Serf2	T	C	2: 121,288,184 (GRCm39)		probably null	Het
Slitrk1	T	A	14: 109,149,269 (GRCm39)	N481Y	probably damaging	Het
Tas2r139	T	G	6: 42,118,055 (GRCm39)	S62R	probably damaging	Het
Tdpoz4	A	T	3: 93,704,380 (GRCm39)	T226S	probably benign	Het
Tvp23b	C	A	11: 62,774,464 (GRCm39)	A36E	probably damaging	Het
Upp2	G	A	2: 58,680,076 (GRCm39)	E301K	probably benign	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
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
IGL03203:Cdh19	APN	1	110,817,828 (GRCm39)	missense	possibly damaging	0.82
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

2012-12-06