Mutagenetix > Incidental Mutation

Incidental Mutation 'R5094:Cdh18'

452816

Institutional Source

Beutler Lab

Gene Symbol

Cdh18

Ensembl Gene

ENSMUSG00000040420

Gene Name

cadherin 18

Synonyms

B230220E17Rik

MMRRC Submission

042683-MU

Accession Numbers

Essential gene?

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

Stock #

R5094 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

22549108-23474504 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

G to A at 22714625 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000129170 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000163361]

AlphaFold

E9Q9Q6

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000022493

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.9%

Validation Efficiency

91% (40/44)

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	G	T	15: 81,946,883 (GRCm39)	G260V	possibly damaging	Het
Agap3	T	C	5: 24,656,319 (GRCm39)		probably benign	Het
Bicra	A	G	7: 15,709,296 (GRCm39)	S1173P	probably damaging	Het
C3	A	T	17: 57,532,033 (GRCm39)		probably null	Het
Cep290	A	G	10: 100,402,892 (GRCm39)	K2274E	probably damaging	Het
Cfap54	T	C	10: 92,734,861 (GRCm39)		probably benign	Het
Chat	T	A	14: 32,130,896 (GRCm39)	I582F	probably damaging	Het
Chrnb4	T	C	9: 54,942,597 (GRCm39)	I226V	probably benign	Het
Dnajc2	T	C	5: 21,981,730 (GRCm39)	T139A	probably damaging	Het
Eml1	T	C	12: 108,502,570 (GRCm39)	F712S	probably benign	Het
Fgfr1	C	T	8: 26,060,181 (GRCm39)	S524L	probably damaging	Het
Gimap3	T	C	6: 48,742,306 (GRCm39)	E208G	probably damaging	Het
Gm12185	T	A	11: 48,798,375 (GRCm39)	D706V	probably benign	Het
Gucy1a2	T	A	9: 3,865,443 (GRCm39)	V639D	probably damaging	Het
Hivep2	T	C	10: 14,007,893 (GRCm39)	F1497S	probably benign	Het
Hunk	A	G	16: 90,293,554 (GRCm39)	D612G	probably benign	Het
Ifit3b	T	A	19: 34,589,948 (GRCm39)	S375T	possibly damaging	Het
Mucl1	A	G	15: 103,785,669 (GRCm39)	S13P	possibly damaging	Het
Or5w12	C	T	2: 87,502,174 (GRCm39)	C179Y	possibly damaging	Het
Or8k20	T	A	2: 86,106,384 (GRCm39)	Y149F	probably damaging	Het
Pah	T	A	10: 87,374,081 (GRCm39)	Y78*	probably null	Het
Pex13	A	G	11: 23,605,441 (GRCm39)	V263A	probably benign	Het
Pfdn2	T	A	1: 171,184,067 (GRCm39)		probably benign	Het
Phip	C	T	9: 82,753,897 (GRCm39)	V1616I	probably benign	Het
Pigg	A	G	5: 108,484,123 (GRCm39)	S457G	possibly damaging	Het
Ppp1r13b	A	G	12: 111,810,044 (GRCm39)	S97P	probably benign	Het
Slc22a6	T	C	19: 8,603,541 (GRCm39)	L535P	probably damaging	Het
Slc5a1	A	G	5: 33,315,624 (GRCm39)	T548A	probably damaging	Het
Smtnl2	T	A	11: 72,291,211 (GRCm39)	S346C	probably damaging	Het
Spata31d1a	A	G	13: 59,852,858 (GRCm39)		probably null	Het
Tlcd2	T	C	11: 75,360,640 (GRCm39)	S228P	probably benign	Het
Tmem135	A	G	7: 88,793,001 (GRCm39)	L411P	probably damaging	Het
Tnrc6c	T	C	11: 117,611,872 (GRCm39)	V170A	probably benign	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
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
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'- AATCGTATCCACAGAGTCATGG -3'
(R):5'- GTCTGAGGAGCCATTTTGAGC -3'

Sequencing Primer
(F):5'- GTATCCACAGAGTCATGGTCATC -3'
(R):5'- TTTTGAGCAATGGGGAACACTAACC -3'

Posted On

2017-01-10