Mutagenetix > Incidental Mutation

Incidental Mutation 'R6700:Cdh18'

528237

Institutional Source

Beutler Lab

Gene Symbol

Cdh18

Ensembl Gene

ENSMUSG00000040420

Gene Name

cadherin 18

Synonyms

MMRRC Submission

044818-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

R6700 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

22549022-23474418 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23474105 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 687 (Y687C)

Ref Sequence

ENSEMBL: ENSMUSP00000130851 (fasta)

Gene Model

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

AlphaFold

E9Q9Q6

Predicted Effect

probably benign
Transcript: ENSMUST00000164787
AA Change: Y687C

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

SMART Domains

Protein: ENSMUSP00000130851
Gene: ENSMUSG00000040420
AA Change: Y687C

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

SMART Domains

Protein: ENSMUSP00000128643
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
CA	290	382	2.76e-13	SMART
CA	405	486	3.86e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000167623

SMART Domains

Protein: ENSMUSP00000128011
Gene: ENSMUSG00000040420

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 benign
Transcript: ENSMUST00000226693

Meta Mutation Damage Score

0.0949

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.0%

Validation Efficiency

100% (62/62)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	T	C	9: 55,973,856	E504G	unknown	Het
Aak1	G	A	6: 86,964,203	E660K	unknown	Het
Abcc9	A	G	6: 142,687,287	I243T	possibly damaging	Het
Baiap3	A	G	17: 25,244,026	S1013P	probably damaging	Het
Bdp1	A	T	13: 100,025,528	D2295E	probably benign	Het
Blm	A	G	7: 80,463,850	V1233A	possibly damaging	Het
Brsk1	G	T	7: 4,692,701	V62F	probably damaging	Het
Cacna2d1	A	G	5: 16,365,460	E1011G	probably damaging	Het
Cfap221	T	C	1: 119,955,691	E250G	possibly damaging	Het
Col5a3	C	T	9: 20,779,033	G1162R	probably damaging	Het
Cps1	G	T	1: 67,229,523		probably null	Het
Cyp4v3	A	G	8: 45,307,093	V34A	probably damaging	Het
Dnah9	C	T	11: 65,955,366	V2949M	probably damaging	Het
Dst	A	C	1: 34,256,323	Q3454P	probably damaging	Het
Filip1l	T	C	16: 57,571,248	L495P	possibly damaging	Het
Flnb	C	A	14: 7,892,189	H619Q	probably damaging	Het
Fst	G	C	13: 114,458,507	A27G	probably benign	Het
Ggnbp2	C	A	11: 84,840,105	R364L	probably damaging	Het
Gins1	C	T	2: 150,916,228	A78V	probably damaging	Het
Gm19410	T	A	8: 35,807,510	L1495H	possibly damaging	Het
Golgb1	C	T	16: 36,875,584		probably benign	Het
Lin7a	A	G	10: 107,380,306		probably null	Het
Lrp6	A	T	6: 134,479,560	C914S	probably damaging	Het
Lrrc8e	G	A	8: 4,236,034	G753D	probably damaging	Het
Mapk4	A	G	18: 73,930,811	Y447H	probably damaging	Het
Mbl1	A	G	14: 41,158,554	N133S	probably damaging	Het
Mrps30	A	T	13: 118,380,598	S362T	probably damaging	Het
Myo1c	C	T	11: 75,671,635	P918S	probably benign	Het
Nbea	T	C	3: 56,082,448	N329S	possibly damaging	Het
Olfr1477	A	T	19: 13,502,813	I157F	probably damaging	Het
Olfr427	G	A	1: 174,099,839	C127Y	probably damaging	Het
Olfr62	A	T	4: 118,666,412	K298N	probably benign	Het
Olfr633	G	A	7: 103,947,324	V253M	probably damaging	Het
Pik3c3	A	G	18: 30,316,901	E589G	probably benign	Het
Plb1	A	T	5: 32,333,464	D1035V	probably damaging	Het
Plekhg1	G	T	10: 3,957,373	M763I	probably benign	Het
Poc5	A	G	13: 96,394,495	N67S	probably benign	Het
Psmd13	T	A	7: 140,890,609	W255R	probably damaging	Het
Rbm27	A	G	18: 42,325,939	Y735C	probably damaging	Het
Rhpn2	A	T	7: 35,376,169	N257I	possibly damaging	Het
Rilpl2	C	T	5: 124,469,780	E126K	probably damaging	Het
Rp1	G	A	1: 4,349,896	T331M	probably damaging	Het
Sh3pxd2a	A	G	19: 47,364,707	V105A	possibly damaging	Het
Slc9a9	T	C	9: 94,936,311	S253P	possibly damaging	Het
St8sia3	C	T	18: 64,265,381		probably benign	Het
Strbp	T	C	2: 37,603,963	D366G	probably null	Het
Tbx5	A	G	5: 119,871,397	T324A	probably benign	Het
Tex15	T	A	8: 33,574,889	I1449N	possibly damaging	Het
Tmtc3	C	T	10: 100,471,477	V222I	probably benign	Het
Top3b	T	C	16: 16,892,669	S788P	possibly damaging	Het
Tsc22d4	A	G	5: 137,758,523	D71G	probably benign	Het
Tubgcp4	T	A	2: 121,189,848	V434E	probably benign	Het
Ufsp1	A	G	5: 137,294,896	Y36C	possibly damaging	Het
Unc79	T	A	12: 103,125,703	H1956Q	possibly damaging	Het
Usp34	A	T	11: 23,439,011	N2217I	probably damaging	Het
Vmn2r112	A	T	17: 22,603,481	D380V	possibly damaging	Het
Vmn2r13	A	G	5: 109,175,072	I117T	probably benign	Het
Vmn2r53	A	G	7: 12,581,706	Y729H	probably damaging	Het
Wnt3a	A	T	11: 59,249,761	L310M	probably damaging	Het
Zc3h7a	T	C	16: 11,158,967	Q155R	possibly damaging	Het

Other mutations in Cdh18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00973:Cdh18	APN	15	23173796	missense	probably damaging	0.97
IGL01663:Cdh18	APN	15	23445991	missense	possibly damaging	0.92
IGL01758:Cdh18	APN	15	23474183	missense	probably benign	0.20
IGL02192:Cdh18	APN	15	23460316	missense	probably damaging	1.00
IGL02448:Cdh18	APN	15	23173789	missense	probably benign	0.00
IGL02717:Cdh18	APN	15	23410715	nonsense	probably null
IGL03241:Cdh18	APN	15	23226933	missense	probably benign	0.19
IGL03268:Cdh18	APN	15	23366867	missense	probably damaging	1.00
IGL03307:Cdh18	APN	15	23226786	missense	probably damaging	1.00
R0316:Cdh18	UTSW	15	23366913	missense	probably damaging	1.00
R0462:Cdh18	UTSW	15	23366885	missense	probably damaging	1.00
R0607:Cdh18	UTSW	15	23410790	missense	probably benign	0.01
R0761:Cdh18	UTSW	15	23226752	missense	possibly damaging	0.87
R0973:Cdh18	UTSW	15	23473995	missense	probably damaging	0.99
R1110:Cdh18	UTSW	15	23474317	missense	probably benign	0.00
R1550:Cdh18	UTSW	15	23436548	missense	probably damaging	1.00
R1656:Cdh18	UTSW	15	23474399	missense	probably benign	0.38
R1682:Cdh18	UTSW	15	23400585	missense	probably benign	0.05
R1770:Cdh18	UTSW	15	23474401	missense	probably benign
R1829:Cdh18	UTSW	15	23173852	missense	probably damaging	1.00
R2253:Cdh18	UTSW	15	23410805	missense	probably benign	0.00
R2435:Cdh18	UTSW	15	23367008	missense	probably damaging	1.00
R3914:Cdh18	UTSW	15	23410685	missense	probably damaging	1.00
R3964:Cdh18	UTSW	15	23474101	missense	probably benign
R4002:Cdh18	UTSW	15	23382962	missense	possibly damaging	0.48
R4291:Cdh18	UTSW	15	22714551	intron	probably benign
R4581:Cdh18	UTSW	15	23226783	missense	probably damaging	1.00
R4604:Cdh18	UTSW	15	23474368	missense	probably benign	0.05
R4625:Cdh18	UTSW	15	22714042	intron	probably benign
R4786:Cdh18	UTSW	15	23410787	missense	probably null	1.00
R4811:Cdh18	UTSW	15	23226791	missense	probably benign	0.30
R5023:Cdh18	UTSW	15	23259666	missense	probably damaging	1.00
R5094:Cdh18	UTSW	15	22714539	intron	probably benign
R5278:Cdh18	UTSW	15	23474158	missense	probably benign	0.04
R5416:Cdh18	UTSW	15	23226723	missense	probably damaging	1.00
R5503:Cdh18	UTSW	15	23436534	missense	probably damaging	0.96
R5617:Cdh18	UTSW	15	23226768	missense	probably damaging	0.97
R5982:Cdh18	UTSW	15	23474216	missense	possibly damaging	0.89
R6240:Cdh18	UTSW	15	23226936	missense	possibly damaging	0.82
R6475:Cdh18	UTSW	15	23226936	missense	possibly damaging	0.82
R6649:Cdh18	UTSW	15	23436534	missense	possibly damaging	0.87
R6718:Cdh18	UTSW	15	23226749	missense	probably benign	0.15
R6796:Cdh18	UTSW	15	23446073	missense	probably damaging	1.00
R7330:Cdh18	UTSW	15	23226950	missense	possibly damaging	0.46
R7429:Cdh18	UTSW	15	23366856	missense	possibly damaging	0.89
R7477:Cdh18	UTSW	15	23410725	missense	probably benign
R7516:Cdh18	UTSW	15	23259598	splice site	probably null
R7519:Cdh18	UTSW	15	23474212	missense	possibly damaging	0.68
R7575:Cdh18	UTSW	15	23400597	nonsense	probably null
R7618:Cdh18	UTSW	15	23366970	missense	probably damaging	1.00
R7844:Cdh18	UTSW	15	23410787	missense	probably damaging	1.00
R7870:Cdh18	UTSW	15	23474327	missense	possibly damaging	0.94
R8288:Cdh18	UTSW	15	23445987	missense	probably damaging	1.00
R8420:Cdh18	UTSW	15	23474052	missense	possibly damaging	0.94
R8430:Cdh18	UTSW	15	23226684	missense	probably damaging	1.00
R8916:Cdh18	UTSW	15	23410727	missense	probably damaging	0.99
R9093:Cdh18	UTSW	15	23473978	missense	probably damaging	1.00
R9183:Cdh18	UTSW	15	23226979	critical splice donor site	probably null
R9399:Cdh18	UTSW	15	23173813	missense	probably damaging	1.00
R9531:Cdh18	UTSW	15	23436476	missense	probably benign
Z1189:Cdh18	UTSW	15	23474283	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- AAAGCCTAAGTCCTTCTCTCTG -3'
(R):5'- ATAGACCCAGCTTCTGACCG -3'

Sequencing Primer
(F):5'- AAGCCTAAGTCCTTCTCTCTGTTAAC -3'
(R):5'- AGCTTCTGACCGCTGGC -3'

Posted On

2018-07-24