Mutagenetix > Incidental Mutation

Incidental Mutation 'R1028:Cdh19'

95012

Institutional Source

Beutler Lab

Gene Symbol

Cdh19

Ensembl Gene

ENSMUSG00000047216

Gene Name

cadherin 19, type 2

Synonyms

MMRRC Submission

039130-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1028 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

110816056-110905314 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110882314 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 59 (I59M)

Ref Sequence

ENSEMBL: ENSMUSP00000092210 (fasta)

Gene Model

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

AlphaFold

E9Q3A7

Predicted Effect

probably benign
Transcript: ENSMUST00000094626
AA Change: I59M

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000092210
Gene: ENSMUSG00000047216
AA Change: I59M

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194910

Coding Region Coverage

1x: 98.5%
3x: 97.1%
10x: 91.8%
20x: 78.7%

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ak7	AGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGA	12: 105,676,448 (GRCm39)		probably benign	Het
Ano8	GCCTCCTCCTCCTCCTC	GCCTCCTCCTCCTC	8: 71,933,615 (GRCm39)		probably benign	Het
B3galt4	G	A	17: 34,169,813 (GRCm39)	R142C	probably damaging	Het
Bpifb9a	G	C	2: 154,104,327 (GRCm39)	E257Q	possibly damaging	Het
Cmah	A	G	13: 24,619,645 (GRCm39)	D171G	probably damaging	Het
Colec12	T	C	18: 9,866,837 (GRCm39)	S683P	unknown	Het
Dixdc1	C	T	9: 50,614,546 (GRCm39)	A168T	probably benign	Het
Dpp6	A	G	5: 27,871,425 (GRCm39)	D461G	probably benign	Het
Entpd3	A	G	9: 120,387,427 (GRCm39)	H208R	probably benign	Het
Fuz	T	C	7: 44,546,350 (GRCm39)	I39T	probably damaging	Het
Gprin3	T	C	6: 59,331,594 (GRCm39)	N238D	possibly damaging	Het
Itpr3	G	T	17: 27,310,343 (GRCm39)	A403S	probably benign	Het
Mroh2a	G	A	1: 88,163,098 (GRCm39)	R376H	probably benign	Het
Mtor	G	C	4: 148,623,287 (GRCm39)	G2046R	possibly damaging	Het
Myh13	T	C	11: 67,247,007 (GRCm39)	S1243P	possibly damaging	Het
Net1	A	T	13: 3,934,375 (GRCm39)	C441S	probably damaging	Het
Nlrp4e	T	C	7: 23,021,169 (GRCm39)	F552S	probably damaging	Het
Or2y15	G	A	11: 49,351,047 (GRCm39)	M180I	probably benign	Het
Or4k47	A	T	2: 111,451,870 (GRCm39)	L183Q	probably damaging	Het
Or9i16	C	A	19: 13,865,159 (GRCm39)	Q138H	probably damaging	Het
Ovch2	T	C	7: 107,395,755 (GRCm39)	I88V	probably benign	Het
Phf1	A	G	17: 27,153,307 (GRCm39)	T42A	possibly damaging	Het
Pkhd1	A	G	1: 20,187,950 (GRCm39)	Y3453H	probably damaging	Het
Rabgef1	T	G	5: 130,241,703 (GRCm39)	L369*	probably null	Het
Rufy1	A	T	11: 50,305,425 (GRCm39)		probably null	Het
Sec16b	T	C	1: 157,388,487 (GRCm39)	V618A	probably benign	Het
Sh3rf1	A	G	8: 61,846,821 (GRCm39)	R876G	possibly damaging	Het
Slc26a8	A	G	17: 28,891,772 (GRCm39)	Y126H	probably damaging	Het
Vwa8	C	T	14: 79,145,670 (GRCm39)	R116C	probably damaging	Het
Zp1	G	A	19: 10,896,275 (GRCm39)	T150I	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- TCTGTGACTGCTTTGGTCCATTGTAAC -3'
(R):5'- AGAGCTGGAATCCTAATACACACCAGAA -3'

Sequencing Primer
(F):5'- GCTTTGGTCCATTGTAACAAATAAC -3'
(R):5'- CACACCAGAATGAATTATTGCTTC -3'

Posted On

2014-01-05