Mutagenetix > Incidental Mutation

Incidental Mutation 'R9183:Cdh18'

697206

Institutional Source

Beutler Lab

Gene Symbol

Cdh18

Ensembl Gene

ENSMUSG00000040420

Gene Name

cadherin 18

Synonyms

MMRRC Submission

068950-MU

Accession Numbers

Essential gene?

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

Stock #

R9183 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

22549022-23474418 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 23226979 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000130851 (fasta)

Gene Model

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

AlphaFold

E9Q9Q6

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

Predicted Effect

probably null
Transcript: ENSMUST00000164787

SMART Domains

Protein: ENSMUSP00000130851
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
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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox2	A	G	14: 8,251,559	C313R	probably damaging	Het
Adap2	A	G	11: 80,155,056	N54S	probably damaging	Het
Adcy8	T	C	15: 64,822,267	D387G	probably damaging	Het
Adgra1	G	A	7: 139,875,800	R448Q	probably benign	Het
Antxr1	A	T	6: 87,287,043	D148E	probably damaging	Het
Ap3d1	A	T	10: 80,709,793	V1034E	probably null	Het
Arpp21	C	T	9: 112,065,998	A731T	probably benign	Het
Asl	T	A	5: 130,013,471	R255W	probably damaging	Het
Asxl1	T	A	2: 153,397,920	S544T	probably damaging	Het
Atp8a1	A	C	5: 67,767,035	Y329D		Het
Calcr	A	T	6: 3,711,463	I186N	probably damaging	Het
Celsr3	T	C	9: 108,829,396	L1026P	probably damaging	Het
Ces2a	T	A	8: 104,734,142	V24E	possibly damaging	Het
Clybl	T	C	14: 122,401,975	I317T	probably damaging	Het
Col13a1	T	A	10: 61,863,979	T476S	unknown	Het
Cyp4f15	T	C	17: 32,700,231	S343P	probably damaging	Het
D230025D16Rik	C	A	8: 105,231,208	Q49K	probably benign	Het
D630003M21Rik	T	C	2: 158,217,192	T263A	probably benign	Het
Fbxo28	A	G	1: 182,329,961	V97A	possibly damaging	Het
Frem2	C	T	3: 53,520,065	V2889I	probably damaging	Het
Garnl3	T	C	2: 33,005,068	E663G	probably damaging	Het
Gen1	T	A	12: 11,249,185	K338M	probably damaging	Het
Gfi1	A	G	5: 107,725,953		probably null	Het
Gfod2	A	G	8: 105,723,021	S95P	probably benign	Het
H2-Bl	T	A	17: 36,081,490	H31L	unknown	Het
Heatr1	A	G	13: 12,421,385	Q1224R	probably damaging	Het
Hectd4	A	G	5: 121,299,488	K1059E	possibly damaging	Het
Hmgcs2	C	T	3: 98,290,916	A45V	possibly damaging	Het
Hnmt	C	A	2: 24,003,643	V280L	probably benign	Het
Ifi35	G	T	11: 101,457,265	V66L	probably benign	Het
Kcnn2	T	C	18: 45,561,312	I188T	probably damaging	Het
Klhl8	C	A	5: 103,864,245	A575S	probably benign	Het
Krt6a	T	C	15: 101,693,011	D225G	probably benign	Het
Lrtm2	T	C	6: 119,317,423	Y249C	probably damaging	Het
Med12l	C	T	3: 59,077,077	R479C	probably damaging	Het
Muc5ac	A	T	7: 141,798,900	Y709F	possibly damaging	Het
Nsd2	G	A	5: 33,871,452	A162T	probably damaging	Het
Olfr768	A	G	10: 129,093,332	M214T	probably benign	Het
Polr2h	T	C	16: 20,720,535	Y90H	possibly damaging	Het
Prkaa1	A	T	15: 5,176,488	E275V	probably damaging	Het
Prss22	C	T	17: 23,994,618	G233E	probably damaging	Het
Rhcg	A	T	7: 79,594,816	L496*	probably null	Het
Rnf213	A	G	11: 119,427,622	E1084G		Het
Safb2	ACTTCTTCT	ACTTCT	17: 56,571,292		probably benign	Het
Slc14a1	T	A	18: 78,111,383	I263F	probably benign	Het
Slc40a1	C	T	1: 45,909,511	M536I	possibly damaging	Het
Slco6c1	T	A	1: 97,069,050		probably null	Het
Stk32a	T	C	18: 43,261,340	F118S	probably damaging	Het
Sytl1	G	T	4: 133,253,623	R467S	possibly damaging	Het
Thbs2	T	C	17: 14,676,264	I788V	probably benign	Het
Tmed6	T	A	8: 107,061,758	R186*	probably null	Het
Trnau1ap	G	A	4: 132,325,254	R78C	probably damaging	Het
Trpv1	A	T	11: 73,244,213	D412V	possibly damaging	Het
Ttc16	C	T	2: 32,757,317	V688M	probably benign	Het
Ubr5	C	A	15: 37,997,176	L1738F		Het
Vmn2r89	A	G	14: 51,455,044	I101M	probably benign	Het
Wdr27	C	T	17: 14,928,389	R114Q	possibly damaging	Het
Wdr48	A	G	9: 119,920,664	H563R	possibly damaging	Het
Wdr49	A	C	3: 75,298,112	S666A	probably benign	Het
Wwox	T	C	8: 114,706,370	S259P	probably damaging	Het
Zfp160	T	A	17: 21,020,092	D12E	possibly damaging	Het
Zfp800	A	G	6: 28,243,173	Y598H	probably benign	Het
Zfp970	T	C	2: 177,475,743	L370P	probably damaging	Het
Zmat5	A	T	11: 4,722,431	D16V	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
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
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
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'- AGGGGCCGGGACTATATTTATC -3'
(R):5'- TGGCTTTGGCTTGAGATATTACAAG -3'

Sequencing Primer
(F):5'- GCCGGGACTATATTTATCATTGATG -3'
(R):5'- AGAGCTTTCTCAATGTTTGA -3'

Posted On

2022-02-07