Mutagenetix > Incidental Mutation

Incidental Mutation 'R7240:Cdh19'

563120

Institutional Source

Beutler Lab

Gene Symbol

Cdh19

Ensembl Gene

ENSMUSG00000047216

Gene Name

cadherin 19, type 2

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7240 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110888326-110977584 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110893407 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 534 (T534A)

Ref Sequence

ENSEMBL: ENSMUSP00000092210 (fasta)

Gene Model

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

AlphaFold

E9Q3A7

Predicted Effect

probably benign
Transcript: ENSMUST00000094626
AA Change: T534A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000092210
Gene: ENSMUSG00000047216
AA Change: T534A

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

Meta Mutation Damage Score

0.0772

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

96% (50/52)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210017I01Rik	A	G	3: 92,605,075	I59T	unknown	Het
Aspm	C	T	1: 139,478,651	Q1759*	probably null	Het
Atn1	A	T	6: 124,747,898	I124K	unknown	Het
Catsper2	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	2: 121,397,572		probably benign	Het
Ccdc88c	C	T	12: 100,944,939	V879M	probably benign	Het
Cd300c	A	G	11: 114,959,783	C65R	possibly damaging	Het
Cd69	A	T	6: 129,270,042	S112T	possibly damaging	Het
Cdk5rap2	T	A	4: 70,291,908	D701V	probably damaging	Het
D130052B06Rik	A	G	11: 33,623,874	H157R	possibly damaging	Het
Dpf1	T	A	7: 29,311,627	F150L	probably benign	Het
Dsg1c	T	C	18: 20,283,109	L689P	probably damaging	Het
Dstyk	G	A	1: 132,454,123	M538I	probably benign	Het
E4f1	T	A	17: 24,444,325	I669F	probably damaging	Het
Gm7138	T	C	10: 77,776,755	T64A	unknown	Het
Gnai2	A	C	9: 107,615,773	D310E		Het
Iqca	A	G	1: 90,070,550	V567A	possibly damaging	Het
Iqgap1	A	T	7: 80,759,839	N249K	probably benign	Het
Lamc1	A	G	1: 153,234,650	V1093A	possibly damaging	Het
Mfap3	A	G	11: 57,529,756	K188E	probably damaging	Het
N4bp2	T	A	5: 65,794,545	V431D	probably damaging	Het
Notch4	A	G	17: 34,576,471	T792A	probably benign	Het
Ntn4	A	G	10: 93,745,741	H592R	probably damaging	Het
Ofcc1	A	G	13: 40,208,841	C202R	probably benign	Het
Olfr13	A	G	6: 43,174,501	K172E	probably benign	Het
Olfr418	T	C	1: 173,270,994	I273T	probably benign	Het
Olfr476	T	C	7: 107,968,188	S264P	probably benign	Het
Olfr497	A	G	7: 108,422,933	M121V	probably damaging	Het
Olfr922	A	G	9: 38,815,713	D70G	probably benign	Het
Olfr938	A	T	9: 39,078,610	M45K	probably damaging	Het
Parpbp	G	A	10: 88,124,940	T228I	probably damaging	Het
Pcdhgb8	G	A	18: 37,763,703	V609M	probably damaging	Het
Pla2g4d	T	C	2: 120,270,349	N543S	probably damaging	Het
Puf60	A	G	15: 76,072,539		probably benign	Het
Rbm6	A	T	9: 107,852,896	D184E	probably damaging	Het
Rnase9	A	C	14: 51,038,979	S181A	probably benign	Het
Rnpc3	T	A	3: 113,616,831	R270S	probably damaging	Het
Rundc1	T	C	11: 101,431,548		probably null	Het
Ryr1	T	C	7: 29,052,015	S3715G	possibly damaging	Het
Scn3a	A	T	2: 65,469,042	D1373E	possibly damaging	Het
Serpina3k	T	G	12: 104,340,602	I31S	probably benign	Het
Sipa1l2	A	G	8: 125,469,860	F712L	probably damaging	Het
Slc22a29	A	G	19: 8,161,511	V529A	probably damaging	Het
Tdrd3	A	G	14: 87,458,803	N58S	probably benign	Het
Tmc2	C	T	2: 130,234,804	T350I	possibly damaging	Het
Tpst2	T	C	5: 112,307,678	C28R	probably benign	Het
Trbv21	A	T	6: 41,202,958	K69N	probably benign	Het
Trpm2	A	G	10: 77,935,876		probably null	Het
Ttn	A	G	2: 76,848,990	V10796A	unknown	Het
Ush2a	A	G	1: 188,911,661	T4407A	possibly damaging	Het
Vmn2r95	A	G	17: 18,451,963	H726R	probably benign	Het
Zfp777	A	G	6: 48,044,449	S80P	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- GAATCCCATGATAAAGAGAAGTCCC -3'
(R):5'- AGTACTGATGCCTAAGTAGAGACAC -3'

Sequencing Primer
(F):5'- AGAGAAGTCCCTTGTTAGCAC -3'
(R):5'- TCTGTGCACTGTTCTTCCTATAC -3'

Posted On

2019-06-26