Mutagenetix > Incidental Mutation

Incidental Mutation 'R4811:Cdh18'

369464

Institutional Source

Beutler Lab

Gene Symbol

Cdh18

Ensembl Gene

ENSMUSG00000040420

Gene Name

cadherin 18

Synonyms

MMRRC Submission

042430-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

R4811 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

22549022-23474418 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23226791 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 113 (T113A)

Ref Sequence

ENSEMBL: ENSMUSP00000128643 (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
AA Change: T113A

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

SMART Domains

Protein: ENSMUSP00000129170
Gene: ENSMUSG00000040420
AA Change: T113A

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: T113A

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000130851
Gene: ENSMUSG00000040420
AA Change: T113A

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: T113A

PolyPhen 2 Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000128643
Gene: ENSMUSG00000040420
AA Change: T113A

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: T59A

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000128011
Gene: ENSMUSG00000040420
AA Change: T59A

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
AA Change: T113A

PolyPhen 2 Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447A16Rik	G	A	15: 37,425,708		probably benign	Het
Adam3	C	T	8: 24,711,724	G208R	probably benign	Het
AI481877	T	C	4: 59,082,404	N408S	probably benign	Het
Arsg	G	T	11: 109,534,072	V290L	probably benign	Het
Cad	A	G	5: 31,074,690	T104A	probably benign	Het
Ccdc180	A	G	4: 45,928,020	N1185S	probably damaging	Het
Crocc2	G	A	1: 93,205,896	A967T	probably damaging	Het
Cyp4f16	A	G	17: 32,545,106	T291A	probably benign	Het
Dcc	T	A	18: 71,299,483	H1300L	probably benign	Het
Ddx23	T	A	15: 98,647,471		probably null	Het
Dnhd1	T	G	7: 105,714,281	S4017A	probably damaging	Het
Erbb4	A	T	1: 68,254,544	F729L	probably damaging	Het
Ercc6	G	T	14: 32,574,929	R1292L	probably benign	Het
Fam186b	C	T	15: 99,280,237	V403M	probably benign	Het
Fam227a	T	C	15: 79,615,427	N576D	possibly damaging	Het
Fam46b	T	C	4: 133,486,370	L184P	probably benign	Het
Fbln1	A	G	15: 85,226,966		probably null	Het
Fbxw17	T	C	13: 50,425,633	V162A	probably benign	Het
Gas2l1	A	C	11: 5,064,436	I8S	probably damaging	Het
Gm7030	A	G	17: 36,127,776	L241S	probably damaging	Het
Golgb1	T	C	16: 36,891,419	L195P	probably damaging	Het
Gps2	A	T	11: 69,915,928	H233L	probably damaging	Het
Guf1	T	G	5: 69,564,509		probably null	Het
Il1rap	T	A	16: 26,701,238		probably null	Het
Ints14	A	G	9: 64,964,518	Y46C	probably damaging	Het
Kalrn	T	G	16: 34,356,969	Q293H	probably damaging	Het
Kank2	A	G	9: 21,775,747	L593P	probably damaging	Het
Krt19	T	C	11: 100,141,348	T297A	possibly damaging	Het
Lcp1	T	C	14: 75,200,408	V86A	probably damaging	Het
Lins1	T	A	7: 66,708,150	I11K	probably benign	Het
Lrba	T	C	3: 86,776,141	F2757L	probably damaging	Het
Lyst	T	C	13: 13,777,100	I3762T	probably benign	Het
Lyzl6	A	G	11: 103,635,025	S90P	possibly damaging	Het
Mfsd2a	T	A	4: 122,959,382	Q38L	probably benign	Het
Mtss1	A	G	15: 58,944,073	F546S	probably damaging	Het
Myo5a	G	A	9: 75,141,543		probably null	Het
Naip6	C	A	13: 100,285,791	G1245W	probably damaging	Het
Ndfip1	C	T	18: 38,451,592	T107I	probably benign	Het
Nek8	C	T	11: 78,167,718		probably null	Het
Nphs1	T	C	7: 30,460,429	V55A	probably damaging	Het
Nrp2	C	A	1: 62,719,081	H75Q	probably damaging	Het
Oas1e	C	T	5: 120,795,383	S39N	probably damaging	Het
Olfr1164	A	G	2: 88,093,532	F135L	probably benign	Het
Olfr1391	T	G	11: 49,327,748	S112R	possibly damaging	Het
Olfr309	T	C	7: 86,306,958	T52A	probably benign	Het
Olfr871	A	T	9: 20,212,753	I135F	probably damaging	Het
Pan3	T	A	5: 147,530,058	H632Q	probably damaging	Het
Paqr3	A	C	5: 97,095,983	S291A	probably benign	Het
Pcdh17	A	C	14: 84,447,935	D614A	probably damaging	Het
Pcyox1l	T	C	18: 61,697,535	E422G	possibly damaging	Het
Pgr	G	T	9: 8,900,843	E126*	probably null	Het
Pik3ap1	A	G	19: 41,302,497	V532A	possibly damaging	Het
Pla2g4c	T	C	7: 13,337,813	I186T	probably damaging	Het
Pnkd	G	A	1: 74,349,405		probably null	Het
Poc1a	A	G	9: 106,349,709	T334A	probably damaging	Het
Pou2f2	T	A	7: 25,097,686	K211*	probably null	Het
Rdh13	T	C	7: 4,442,653	E94G	probably benign	Het
Rnf186	A	G	4: 138,967,187	S13G	probably benign	Het
Ryr2	T	C	13: 11,655,698	R3471G	probably damaging	Het
Sbf2	T	C	7: 110,372,535	T831A	probably damaging	Het
Sh3gl2	A	G	4: 85,398,166		probably benign	Het
Snn	T	C	16: 11,072,533	V72A	probably benign	Het
Sys1	T	A	2: 164,464,424	H99Q	possibly damaging	Het
Syt7	A	G	19: 10,435,567	K122R	probably damaging	Het
Tas1r2	T	A	4: 139,669,000	L550Q	probably damaging	Het
Thoc1	T	C	18: 9,993,438	I599T	probably damaging	Het
Tle3	C	T	9: 61,373,997		probably benign	Het
Tll1	A	C	8: 64,085,473	V379G	possibly damaging	Het
Tnfrsf21	G	A	17: 43,037,730	E78K	probably benign	Het
Tpgs2	A	G	18: 25,129,840		probably benign	Het
Trpm1	T	C	7: 64,208,306	L165P	probably damaging	Het
Trpm5	T	C	7: 143,080,219	Y750C	probably damaging	Het
Ttbk2	A	C	2: 120,740,070	S1201A	possibly damaging	Het
Ust	T	A	10: 8,245,941	H301L	probably damaging	Het
Vwa5a	T	C	9: 38,735,953	F543L	probably benign	Het
Yeats2	T	A	16: 20,152,895		probably null	Het
Zfp85	T	C	13: 67,749,626	Y109C	probably damaging	Het
Zfr2	T	A	10: 81,243,713	V362E	probably benign	Het
Znrf3	A	T	11: 5,287,420	C134S	probably benign	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
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
R6700:Cdh18	UTSW	15	23474105	missense	probably benign
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'- CTATAGCATGAGGTTTCCAGTAAAG -3'
(R):5'- TTCAGGCACAGTAACGATGTATG -3'

Sequencing Primer
(F):5'- TTCTAGCTGCACTCCAAC -3'
(R):5'- GCACAGTAACGATGTATGGTCCATC -3'

Posted On

2016-02-04