Mutagenetix > Incidental Mutation

Incidental Mutation 'R1682:Cdh18'

189282

Institutional Source

Beutler Lab

Gene Symbol

Cdh18

Ensembl Gene

ENSMUSG00000040420

Gene Name

cadherin 18

Synonyms

B230220E17Rik

MMRRC Submission

039718-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.112) question?

Stock #

R1682 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

22549108-23474504 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23400671 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 290 (T290A)

Ref Sequence

ENSEMBL: ENSMUSP00000128011 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000163361] [ENSMUST00000164787] [ENSMUST00000165614] [ENSMUST00000167623] [ENSMUST00000226693]

AlphaFold

E9Q9Q6

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000040427

Predicted Effect

probably benign
Transcript: ENSMUST00000163361

SMART Domains

Protein: ENSMUSP00000129170
Gene: ENSMUSG00000040420

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
CA	76	157	4.24e-14	SMART
CA	181	266	1.37e-31	SMART
Pfam:Cadherin	273	337	2.8e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164787
AA Change: T344A

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000130851
Gene: ENSMUSG00000040420
AA Change: T344A

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
CA	76	157	4.24e-14	SMART
CA	181	266	1.37e-31	SMART
CA	290	382	2.76e-13	SMART
CA	405	486	3.86e-26	SMART
CA	509	596	3.7e-5	SMART
transmembrane domain	614	636	N/A	INTRINSIC
Pfam:Cadherin_C	639	783	6.8e-54	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165614
AA Change: T344A

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000128643
Gene: ENSMUSG00000040420
AA Change: T344A

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
CA	76	157	4.24e-14	SMART
CA	181	266	1.37e-31	SMART
CA	290	382	2.76e-13	SMART
CA	405	486	3.86e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000167623
AA Change: T290A

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000128011
Gene: ENSMUSG00000040420
AA Change: T290A

Domain	Start	End	E-Value	Type
CA	22	103	4.24e-14	SMART
CA	127	212	1.37e-31	SMART
CA	236	328	2.76e-13	SMART
CA	351	414	4.15e-8	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226326

Predicted Effect

probably benign
Transcript: ENSMUST00000226693
AA Change: T344A

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type II classical cadherin from the cadherin superfamily of integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. This particular cadherin is expressed specifically in the central nervous system and is putatively involved in synaptic adhesion, axon outgrowth and guidance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	G	11: 84,283,043 (GRCm39)	D2203G	probably benign	Het
Acin1	A	G	14: 54,901,175 (GRCm39)	S629P	probably damaging	Het
Agbl2	T	A	2: 90,614,434 (GRCm39)	I22N	probably benign	Het
Ank1	A	G	8: 23,599,343 (GRCm39)	E796G	probably damaging	Het
Ankrd13d	A	G	19: 4,332,961 (GRCm39)	L13P	probably damaging	Het
Ankrd36	T	C	11: 5,557,143 (GRCm39)	S364P	possibly damaging	Het
Ap2a1	T	C	7: 44,565,362 (GRCm39)	T126A	probably benign	Het
Apob	A	G	12: 8,062,365 (GRCm39)	I3616V	probably benign	Het
Arl5a	A	T	2: 52,306,214 (GRCm39)	N39K	probably benign	Het
Baiap2	G	A	11: 119,888,366 (GRCm39)	R334H	probably damaging	Het
Bbox1	T	A	2: 110,122,893 (GRCm39)	N132I	possibly damaging	Het
Bcl11b	A	G	12: 107,882,908 (GRCm39)	L469P	probably damaging	Het
Brca1	A	G	11: 101,416,391 (GRCm39)	I581T	probably damaging	Het
Cacng2	T	C	15: 78,002,997 (GRCm39)	Y32C	probably damaging	Het
Capn9	G	T	8: 125,338,304 (GRCm39)		probably null	Het
Cdk5rap2	C	T	4: 70,220,387 (GRCm39)	V593I	possibly damaging	Het
Cep128	G	C	12: 91,197,596 (GRCm39)	D91E	probably damaging	Het
Cep295	T	C	9: 15,245,217 (GRCm39)	M1080V	probably benign	Het
Coq8b	T	A	7: 26,939,549 (GRCm39)	M193K	probably benign	Het
Csn1s2b	A	G	5: 87,970,162 (GRCm39)	Y131C	probably damaging	Het
D130043K22Rik	T	C	13: 25,066,539 (GRCm39)	S779P	probably damaging	Het
Dgat1	C	T	15: 76,387,219 (GRCm39)	C356Y	probably benign	Het
Dipk1c	A	T	18: 84,754,988 (GRCm39)	I155F	possibly damaging	Het
Dnah12	A	T	14: 26,500,840 (GRCm39)	T1543S	possibly damaging	Het
Dock3	T	C	9: 106,851,040 (GRCm39)	S821G	probably damaging	Het
Dock4	G	A	12: 40,775,779 (GRCm39)	C574Y	probably damaging	Het
Dr1	T	C	5: 108,417,604 (GRCm39)	I50T	probably damaging	Het
Dzip3	A	T	16: 48,778,780 (GRCm39)		probably null	Het
Eln	C	A	5: 134,732,636 (GRCm39)	*861L	probably null	Het
Eml6	T	A	11: 29,709,065 (GRCm39)	H24L	probably benign	Het
Eps8l3	A	C	3: 107,798,622 (GRCm39)	T503P	possibly damaging	Het
Fgf1	C	A	18: 38,974,985 (GRCm39)	D155Y	possibly damaging	Het
Fkbp15	A	T	4: 62,242,431 (GRCm39)	M507K	probably damaging	Het
Flnb	A	T	14: 7,913,121 (GRCm38)	R1463S	probably benign	Het
Fras1	C	T	5: 96,793,732 (GRCm39)	T1018I	probably benign	Het
Gm10803	T	A	2: 93,394,533 (GRCm39)	C102S	probably damaging	Het
Gpatch1	C	A	7: 35,002,812 (GRCm39)	V233L	possibly damaging	Het
Gramd1a	T	C	7: 30,842,325 (GRCm39)		probably null	Het
Gsk3a	T	C	7: 24,935,133 (GRCm39)	T106A	possibly damaging	Het
Hap1	A	G	11: 100,240,302 (GRCm39)	V136A	possibly damaging	Het
Helq	A	T	5: 100,940,679 (GRCm39)	S307T	probably benign	Het
Herc2	T	A	7: 55,738,148 (GRCm39)	S264T	possibly damaging	Het
Htr4	A	G	18: 62,561,137 (GRCm39)	M133V	possibly damaging	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Jakmip2	A	G	18: 43,714,896 (GRCm39)		probably null	Het
Ldhd	T	A	8: 112,354,745 (GRCm39)	S358C	possibly damaging	Het
Lrp1	A	T	10: 127,410,201 (GRCm39)	V1515E	probably damaging	Het
Ltbp3	A	G	19: 5,801,782 (GRCm39)	D700G	probably benign	Het
Magel2	T	G	7: 62,029,983 (GRCm39)	S962R	unknown	Het
Map2	A	C	1: 66,454,781 (GRCm39)		probably null	Het
Map3k1	T	A	13: 111,893,684 (GRCm39)	E704V	probably damaging	Het
Mrpl39	A	T	16: 84,527,347 (GRCm39)	V180D	probably damaging	Het
Myef2	T	C	2: 124,939,978 (GRCm39)	M383V	probably damaging	Het
Myh3	A	G	11: 66,979,891 (GRCm39)	Y610C	probably damaging	Het
Or10ak7	A	G	4: 118,791,778 (GRCm39)	L89P	probably damaging	Het
Or51h1	T	C	7: 102,308,904 (GRCm39)	V292A	probably damaging	Het
Or8g54	T	A	9: 39,706,954 (GRCm39)	Y94*	probably null	Het
Oxtr	C	T	6: 112,454,138 (GRCm39)	R42Q	probably benign	Het
Pabpc1	T	A	15: 36,605,785 (GRCm39)	N135I	possibly damaging	Het
Pcsk6	T	A	7: 65,559,976 (GRCm39)	H100Q	probably damaging	Het
Pdss1	A	G	2: 22,805,531 (GRCm39)	K270E	probably damaging	Het
Pigx	A	T	16: 31,906,268 (GRCm39)	S18T	possibly damaging	Het
Plbd2	T	A	5: 120,623,849 (GRCm39)	T558S	probably damaging	Het
Plppr1	A	T	4: 49,325,617 (GRCm39)		probably null	Het
Plppr2	T	A	9: 21,855,717 (GRCm39)	V230E	possibly damaging	Het
Pola2	A	G	19: 6,003,091 (GRCm39)		probably null	Het
Ppp2r3d	A	G	9: 101,089,505 (GRCm39)	S273P	probably benign	Het
Prkdc	A	G	16: 15,494,853 (GRCm39)	E741G	probably benign	Het
Prom2	C	A	2: 127,382,082 (GRCm39)	V111L	possibly damaging	Het
Rapgef4	A	G	2: 72,056,912 (GRCm39)	D557G	possibly damaging	Het
Rgs10	T	C	7: 127,975,694 (GRCm39)	T158A	probably benign	Het
Rnf123	A	C	9: 107,954,597 (GRCm39)	Y40D	probably benign	Het
Rnf14	A	G	18: 38,441,242 (GRCm39)	T211A	probably benign	Het
Rp1l1	T	A	14: 64,266,417 (GRCm39)	S668T	probably damaging	Het
Sema6d	T	A	2: 124,507,069 (GRCm39)	L946Q	probably benign	Het
Sgcd	T	G	11: 47,085,869 (GRCm39)	K94Q	probably benign	Het
Skor2	A	T	18: 76,947,211 (GRCm39)	D311V	unknown	Het
Slc34a1	A	T	13: 23,996,623 (GRCm39)	I43F	probably damaging	Het
Spdye4c	C	A	2: 128,434,542 (GRCm39)	P40T	probably damaging	Het
Srp72	C	A	5: 77,135,717 (GRCm39)	Q216K	possibly damaging	Het
Tmem62	C	T	2: 120,837,538 (GRCm39)	T485I	probably benign	Het
Tmem94	G	T	11: 115,681,056 (GRCm39)	V432L	probably damaging	Het
Trio	T	C	15: 27,744,232 (GRCm39)		probably null	Het
Uggt2	A	T	14: 119,292,055 (GRCm39)	D581E	probably benign	Het
Unc5d	T	A	8: 29,249,109 (GRCm39)	S319C	probably damaging	Het
Vmn1r211	T	C	13: 23,035,813 (GRCm39)	I285V	probably damaging	Het
Vmn2r68	A	G	7: 84,882,574 (GRCm39)	Y393H	possibly damaging	Het
Vmn2r99	A	C	17: 19,598,207 (GRCm39)	N77T	probably damaging	Het

Other mutations in Cdh18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00973:Cdh18	APN	15	23,173,882 (GRCm39)	missense	probably damaging	0.97
IGL01663:Cdh18	APN	15	23,446,077 (GRCm39)	missense	possibly damaging	0.92
IGL01758:Cdh18	APN	15	23,474,269 (GRCm39)	missense	probably benign	0.20
IGL02192:Cdh18	APN	15	23,460,402 (GRCm39)	missense	probably damaging	1.00
IGL02448:Cdh18	APN	15	23,173,875 (GRCm39)	missense	probably benign	0.00
IGL02717:Cdh18	APN	15	23,410,801 (GRCm39)	nonsense	probably null
IGL03241:Cdh18	APN	15	23,227,019 (GRCm39)	missense	probably benign	0.19
IGL03268:Cdh18	APN	15	23,366,953 (GRCm39)	missense	probably damaging	1.00
IGL03307:Cdh18	APN	15	23,226,872 (GRCm39)	missense	probably damaging	1.00
R0316:Cdh18	UTSW	15	23,366,999 (GRCm39)	missense	probably damaging	1.00
R0462:Cdh18	UTSW	15	23,366,971 (GRCm39)	missense	probably damaging	1.00
R0607:Cdh18	UTSW	15	23,410,876 (GRCm39)	missense	probably benign	0.01
R0761:Cdh18	UTSW	15	23,226,838 (GRCm39)	missense	possibly damaging	0.87
R0973:Cdh18	UTSW	15	23,474,081 (GRCm39)	missense	probably damaging	0.99
R1110:Cdh18	UTSW	15	23,474,403 (GRCm39)	missense	probably benign	0.00
R1550:Cdh18	UTSW	15	23,436,634 (GRCm39)	missense	probably damaging	1.00
R1656:Cdh18	UTSW	15	23,474,485 (GRCm39)	missense	probably benign	0.38
R1770:Cdh18	UTSW	15	23,474,487 (GRCm39)	missense	probably benign
R1829:Cdh18	UTSW	15	23,173,938 (GRCm39)	missense	probably damaging	1.00
R2253:Cdh18	UTSW	15	23,410,891 (GRCm39)	missense	probably benign	0.00
R2435:Cdh18	UTSW	15	23,367,094 (GRCm39)	missense	probably damaging	1.00
R3914:Cdh18	UTSW	15	23,410,771 (GRCm39)	missense	probably damaging	1.00
R3964:Cdh18	UTSW	15	23,474,187 (GRCm39)	missense	probably benign
R4002:Cdh18	UTSW	15	23,383,048 (GRCm39)	missense	possibly damaging	0.48
R4291:Cdh18	UTSW	15	22,714,637 (GRCm39)	intron	probably benign
R4581:Cdh18	UTSW	15	23,226,869 (GRCm39)	missense	probably damaging	1.00
R4604:Cdh18	UTSW	15	23,474,454 (GRCm39)	missense	probably benign	0.05
R4625:Cdh18	UTSW	15	22,714,128 (GRCm39)	intron	probably benign
R4786:Cdh18	UTSW	15	23,410,873 (GRCm39)	missense	probably null	1.00
R4811:Cdh18	UTSW	15	23,226,877 (GRCm39)	missense	probably benign	0.30
R5023:Cdh18	UTSW	15	23,259,752 (GRCm39)	missense	probably damaging	1.00
R5094:Cdh18	UTSW	15	22,714,625 (GRCm39)	intron	probably benign
R5278:Cdh18	UTSW	15	23,474,244 (GRCm39)	missense	probably benign	0.04
R5416:Cdh18	UTSW	15	23,226,809 (GRCm39)	missense	probably damaging	1.00
R5503:Cdh18	UTSW	15	23,436,620 (GRCm39)	missense	probably damaging	0.96
R5617:Cdh18	UTSW	15	23,226,854 (GRCm39)	missense	probably damaging	0.97
R5982:Cdh18	UTSW	15	23,474,302 (GRCm39)	missense	possibly damaging	0.89
R6240:Cdh18	UTSW	15	23,227,022 (GRCm39)	missense	possibly damaging	0.82
R6475:Cdh18	UTSW	15	23,227,022 (GRCm39)	missense	possibly damaging	0.82
R6649:Cdh18	UTSW	15	23,436,620 (GRCm39)	missense	possibly damaging	0.87
R6700:Cdh18	UTSW	15	23,474,191 (GRCm39)	missense	probably benign
R6718:Cdh18	UTSW	15	23,226,835 (GRCm39)	missense	probably benign	0.15
R6796:Cdh18	UTSW	15	23,446,159 (GRCm39)	missense	probably damaging	1.00
R7330:Cdh18	UTSW	15	23,227,036 (GRCm39)	missense	possibly damaging	0.46
R7429:Cdh18	UTSW	15	23,366,942 (GRCm39)	missense	possibly damaging	0.89
R7477:Cdh18	UTSW	15	23,410,811 (GRCm39)	missense	probably benign
R7516:Cdh18	UTSW	15	23,259,684 (GRCm39)	splice site	probably null
R7519:Cdh18	UTSW	15	23,474,298 (GRCm39)	missense	possibly damaging	0.68
R7575:Cdh18	UTSW	15	23,400,683 (GRCm39)	nonsense	probably null
R7618:Cdh18	UTSW	15	23,367,056 (GRCm39)	missense	probably damaging	1.00
R7844:Cdh18	UTSW	15	23,410,873 (GRCm39)	missense	probably damaging	1.00
R7870:Cdh18	UTSW	15	23,474,413 (GRCm39)	missense	possibly damaging	0.94
R8288:Cdh18	UTSW	15	23,446,073 (GRCm39)	missense	probably damaging	1.00
R8420:Cdh18	UTSW	15	23,474,138 (GRCm39)	missense	possibly damaging	0.94
R8430:Cdh18	UTSW	15	23,226,770 (GRCm39)	missense	probably damaging	1.00
R8916:Cdh18	UTSW	15	23,410,813 (GRCm39)	missense	probably damaging	0.99
R9093:Cdh18	UTSW	15	23,474,064 (GRCm39)	missense	probably damaging	1.00
R9183:Cdh18	UTSW	15	23,227,065 (GRCm39)	critical splice donor site	probably null
R9399:Cdh18	UTSW	15	23,173,899 (GRCm39)	missense	probably damaging	1.00
R9531:Cdh18	UTSW	15	23,436,562 (GRCm39)	missense	probably benign
Z1189:Cdh18	UTSW	15	23,474,369 (GRCm39)	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- TCACCCCATTTAAGGCTATGCAAAATCT -3'
(R):5'- TCCTGAGCCAAGACAGTGCCAA -3'

Sequencing Primer
(F):5'- AGGCTATGCAAAATCTCTATTATGTC -3'
(R):5'- AAAAGAGTGGTGGCTCATCC -3'

Posted On

2014-05-14