Mutagenetix > Incidental Mutation

Incidental Mutation 'R4786:Cdh18'

367122

Institutional Source

Beutler Lab

Gene Symbol

Cdh18

Ensembl Gene

ENSMUSG00000040420

Gene Name

cadherin 18

Synonyms

MMRRC Submission

041995-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R4786 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

22549022-23474418 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 23410787 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 453 (W453R)

Ref Sequence

ENSEMBL: ENSMUSP00000153905 (fasta)

Gene Model

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

AlphaFold

E9Q9Q6

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000040427

Predicted Effect

probably null
Transcript: ENSMUST00000164787
AA Change: W453R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000130851
Gene: ENSMUSG00000040420
AA Change: W453R

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 null
Transcript: ENSMUST00000165614
AA Change: W453R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000128643
Gene: ENSMUSG00000040420
AA Change: W453R

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 null
Transcript: ENSMUST00000167623
AA Change: W399R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000128011
Gene: ENSMUSG00000040420
AA Change: W399R

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 null
Transcript: ENSMUST00000226693
AA Change: W453R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.7%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	A	T	12: 55,059,536	I134N	possibly damaging	Het
Acvr1c	T	C	2: 58,280,354	Y414C	probably damaging	Het
Adam32	A	C	8: 24,863,493	S693R	probably damaging	Het
Aldh2	A	T	5: 121,572,824	F314Y	probably benign	Het
Anks1	A	G	17: 28,052,730	D874G	possibly damaging	Het
Ap4b1	T	A	3: 103,818,804	V372E	probably benign	Het
Aqp12	G	A	1: 93,006,455	C18Y	probably damaging	Het
Arap1	T	A	7: 101,385,005	I218N	possibly damaging	Het
Arhgap42	C	A	9: 9,238,698	E28*	probably null	Het
Asb5	G	A	8: 54,585,839	E247K	probably benign	Het
Atg9b	T	C	5: 24,386,089	D781G	possibly damaging	Het
Atxn10	A	G	15: 85,387,143	H294R	probably benign	Het
Bod1l	G	T	5: 41,819,438	T1511K	probably benign	Het
Btnl2	A	T	17: 34,363,348	N296I	probably damaging	Het
Camta1	A	T	4: 151,290,039	L168H	probably damaging	Het
Cant1	A	T	11: 118,408,839	V265E	possibly damaging	Het
Ccdc157	T	C	11: 4,151,861	D20G	probably damaging	Het
Cd209c	T	G	8: 3,945,698	T35P	possibly damaging	Het
Cdc20b	G	A	13: 113,078,734	V279M	probably damaging	Het
Cdh24	A	G	14: 54,637,550	S333P	possibly damaging	Het
Ceacam11	T	C	7: 17,972,314		probably null	Het
Ciz1	C	T	2: 32,377,527	P150L	probably damaging	Het
Crip3	C	A	17: 46,431,042	Q152K	possibly damaging	Het
Dars2	G	A	1: 161,060,760	R197W	probably damaging	Het
Dctn4	A	G	18: 60,555,195	D394G	probably damaging	Het
Dido1	T	C	2: 180,670,871	Y1077C	possibly damaging	Het
Dnhd1	A	G	7: 105,674,444	T641A	probably benign	Het
Egln3	A	T	12: 54,185,581	I146N	probably damaging	Het
Eif2ak3	C	T	6: 70,892,618	T763M	possibly damaging	Het
Etfbkmt	A	T	6: 149,147,246	M1L	probably benign	Het
Fam171a1	A	T	2: 3,225,578	I583F	probably damaging	Het
Fbxo38	A	C	18: 62,529,674	L249W	probably damaging	Het
Fxyd5	T	C	7: 31,041,482		probably benign	Het
Gabrr3	C	A	16: 59,430,100	T154K	probably benign	Het
Gm7233	C	A	14: 43,180,890	D90E	probably benign	Het
Gm8186	A	G	17: 26,099,040	V61A	probably benign	Het
Gm9573	A	T	17: 35,619,329		probably benign	Het
Gnao1	A	G	8: 93,944,303	I137V	probably benign	Het
Gnptab	A	G	10: 88,436,182	M945V	probably damaging	Het
Gpsm1	G	A	2: 26,322,481	A78T	probably benign	Het
Gtf2b	T	C	3: 142,781,469	L222P	probably damaging	Het
Hnrnpf	A	G	6: 117,923,896	Y47C	probably damaging	Het
Itga6	A	G	2: 71,838,690	N608S	possibly damaging	Het
Kdm2b	T	C	5: 122,880,854		probably null	Het
Krit1	T	A	5: 3,812,467	H207Q	possibly damaging	Het
Ky	A	G	9: 102,541,987	N398D	probably benign	Het
Lama1	T	A	17: 67,773,859	V1294E	possibly damaging	Het
Lef1	C	T	3: 131,111,524	T18I	probably damaging	Het
Lrp2	T	C	2: 69,537,956	N178S	probably damaging	Het
Lrrc36	A	G	8: 105,455,278	T525A	probably benign	Het
Map3k8	A	T	18: 4,340,647	C222*	probably null	Het
Mapre2	G	C	18: 23,877,959	S199T	probably benign	Het
Mcm3ap	A	G	10: 76,488,466	N911S	probably benign	Het
Mroh4	G	T	15: 74,610,234	H722Q	probably benign	Het
Myo5b	A	C	18: 74,695,380	Y701S	probably benign	Het
Myt1l	G	T	12: 29,811,458	V80L	unknown	Het
Ncoa7	C	A	10: 30,655,642	V24L	probably benign	Het
Nlrp10	A	T	7: 108,925,238	V345D	probably damaging	Het
Nmral1	C	A	16: 4,716,424	G51V	probably damaging	Het
Npc1	A	G	18: 12,199,497	I797T	probably benign	Het
Olfr1269	A	T	2: 90,119,007	I197N	possibly damaging	Het
Olfr936	T	A	9: 39,047,487	R22*	probably null	Het
Olfr954	A	T	9: 39,461,841	I134L	probably benign	Het
Pclo	A	T	5: 14,723,267	I4419F	unknown	Het
Phf3	C	A	1: 30,816,557	E983*	probably null	Het
Pitpnm2	A	T	5: 124,121,743	Y1149*	probably null	Het
Sdc3	A	T	4: 130,822,768	T430S	probably damaging	Het
Sema3f	A	G	9: 107,682,682	V671A	probably benign	Het
Sigirr	T	G	7: 141,091,433	S379R	probably benign	Het
Slc25a23	T	A	17: 57,047,326	N360I	possibly damaging	Het
Slco6c1	A	T	1: 97,087,995	M357K	probably benign	Het
Sox14	C	A	9: 99,874,965	M240I	probably benign	Het
Stradb	A	T	1: 58,991,208		probably benign	Het
Szt2	A	T	4: 118,399,062	M200K	probably benign	Het
Tef	T	C	15: 81,815,252	S85P	probably benign	Het
Thada	T	A	17: 84,458,855	H41L	possibly damaging	Het
Tinagl1	A	G	4: 130,173,931	F90S	probably benign	Het
Tnfaip1	G	A	11: 78,530,219	T5I	possibly damaging	Het
Tnfrsf23	A	T	7: 143,680,064	V59D	probably damaging	Het
Tnpo3	A	G	6: 29,578,542	V311A	probably benign	Het
Trak1	T	A	9: 121,472,494	M772K	probably benign	Het
Ubash3a	A	G	17: 31,217,964	D185G	probably benign	Het
Vmn2r120	T	C	17: 57,522,048	T516A	probably benign	Het
Wdr4	A	C	17: 31,509,811	L130R	probably damaging	Het
Zfp12	T	C	5: 143,245,502	I528T	probably damaging	Het
Zfp607a	T	C	7: 27,879,413	L636P	probably 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
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
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'- CTGCAATGTTGACTGGCTATATC -3'
(R):5'- ACATCATGCTGGGATGAAAGTG -3'

Sequencing Primer
(F):5'- GACTGGCTATATCAAGTTGACAGCC -3'
(R):5'- GTGAACGAAAAACTCTAAAACGTAC -3'

Posted On

2015-12-29