Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03307:Cdh18'

416424

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cdh18

Ensembl Gene

ENSMUSG00000040420

Gene Name

cadherin 18

Synonyms

B230220E17Rik

Accession Numbers

Essential gene?

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

Stock #

IGL03307

Quality Score

Status

Chromosome

Chromosomal Location

22549108-23474504 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23226872 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 111 (H111R)

Ref Sequence

ENSEMBL: ENSMUSP00000153905 (fasta)

Gene Model

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

AlphaFold

E9Q9Q6

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000040427

Predicted Effect

possibly damaging
Transcript: ENSMUST00000163361
AA Change: H111R

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000129170
Gene: ENSMUSG00000040420
AA Change: H111R

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 damaging
Transcript: ENSMUST00000164787
AA Change: H111R

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000130851
Gene: ENSMUSG00000040420
AA Change: H111R

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 damaging
Transcript: ENSMUST00000165614
AA Change: H111R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128643
Gene: ENSMUSG00000040420
AA Change: H111R

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 damaging
Transcript: ENSMUST00000167623
AA Change: H57R

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000128011
Gene: ENSMUSG00000040420
AA Change: H57R

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

probably damaging
Transcript: ENSMUST00000226693
AA Change: H111R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

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 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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck1	T	C	12: 88,425,823 (GRCm39)	I417T	possibly damaging	Het
Arrdc1	A	T	2: 24,816,354 (GRCm39)	I205N	probably damaging	Het
Atp6v1a	A	G	16: 43,931,922 (GRCm39)	V122A	possibly damaging	Het
Atp8a2	A	G	14: 60,253,321 (GRCm39)		probably null	Het
Cpsf3	T	A	12: 21,346,715 (GRCm39)	I196N	possibly damaging	Het
Cyp2b9	C	T	7: 25,898,476 (GRCm39)	S277L	probably benign	Het
Grik3	T	C	4: 125,535,347 (GRCm39)	M248T	possibly damaging	Het
Gusb	T	C	5: 130,028,872 (GRCm39)	*145W	probably null	Het
Il18rap	T	C	1: 40,582,227 (GRCm39)	Y383H	probably benign	Het
Lama4	T	C	10: 38,893,379 (GRCm39)	V162A	probably benign	Het
Macc1	A	T	12: 119,410,155 (GRCm39)	M308L	probably benign	Het
Or52s1b	C	T	7: 102,822,623 (GRCm39)	V74I	probably benign	Het
Or8g27	A	T	9: 39,129,309 (GRCm39)	I219F	probably benign	Het
Postn	A	G	3: 54,282,548 (GRCm39)	D503G	probably benign	Het
Robo3	A	T	9: 37,333,860 (GRCm39)	V658D	probably damaging	Het
Scrn1	G	A	6: 54,525,322 (GRCm39)	R16*	probably null	Het
Setd1b	C	A	5: 123,286,734 (GRCm39)	D593E	unknown	Het
Slc2a13	C	T	15: 91,160,317 (GRCm39)	V546M	probably damaging	Het
Spock1	T	C	13: 57,577,160 (GRCm39)	D423G	probably null	Het
Stox2	T	C	8: 47,647,065 (GRCm39)	T132A	probably damaging	Het
Tle2	T	C	10: 81,426,074 (GRCm39)	S703P	probably damaging	Het
Trgc1	A	G	13: 19,398,528 (GRCm39)		probably benign	Het
Ttc41	T	C	10: 86,580,304 (GRCm39)	I750T	possibly damaging	Het
Vmn2r107	A	T	17: 20,577,038 (GRCm39)	K345N	probably benign	Het
Vmn2r60	T	C	7: 41,765,971 (GRCm39)	V26A	probably benign	Het
Vmn2r98	G	A	17: 19,286,242 (GRCm39)	V247I	possibly damaging	Het
Zan	A	G	5: 137,472,287 (GRCm39)	V153A	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
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
R1682:Cdh18	UTSW	15	23,400,671 (GRCm39)	missense	probably benign	0.05
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

Posted On

2016-08-02