Mutagenetix > Incidental Mutations

Incidental Mutation 'R6315:Cadm3'

510566

Institutional Source

Beutler Lab

Gene Symbol

Cadm3

Ensembl Gene

ENSMUSG00000005338

Gene Name

cell adhesion molecule 3

Synonyms

SynCAM3, Tsll1, Igsf4b, BIgR, Necl-1, Necl1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

R6315 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

173333258-173367695 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 173344352 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 252 (D252G)

Ref Sequence

ENSEMBL: ENSMUSP00000005470 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005470] [ENSMUST00000111220]

Predicted Effect

probably benign
Transcript: ENSMUST00000005470
AA Change: D252G

PolyPhen 2 Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000005470
Gene: ENSMUSG00000005338
AA Change: D252G

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
IG	67	159	1.43e-8	SMART
IG	169	262	6.31e-1	SMART
IGc2	277	338	3.91e-6	SMART
low complexity region	351	359	N/A	INTRINSIC
4.1m	383	401	9.24e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111220
AA Change: D218G

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000106851
Gene: ENSMUSG00000005338
AA Change: D218G

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
IG	33	125	1.43e-8	SMART
IG	135	228	6.31e-1	SMART
IGc2	243	304	3.91e-6	SMART
low complexity region	317	325	N/A	INTRINSIC
4.1m	349	367	9.24e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126963

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136540

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157032

Meta Mutation Damage Score

0.0711

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

97% (64/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a calcium-independent cell-cell adhesion protein that can form homodimers or heterodimers with other nectin proteins. The encoded protein has both homophilic and heterophilic cell-cell adhesion activity. This gene is reported to be a tumor suppressor gene. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous for a null allele exhibit delayed myelination. Other mice with ubiquitous conditional deletion of the gene do not display neurological abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	C	7: 120,346,092	Y464H	probably damaging	Het
Ahnak	T	C	19: 9,006,626	M1758T	probably damaging	Het
Ak9	A	T	10: 41,406,841	D1201V	possibly damaging	Het
Amdhd2	A	C	17: 24,158,356	H203Q	probably benign	Het
Ano3	A	G	2: 110,697,039	M608T	probably damaging	Het
Arhgef4	G	A	1: 34,723,477	A605T	unknown	Het
Atp1a2	C	G	1: 172,289,336	R238P	probably damaging	Het
Atp8b1	C	A	18: 64,531,479	R1206L	probably damaging	Het
B4galt5	A	T	2: 167,305,809	N215K	probably damaging	Het
Bpifa1	A	G	2: 154,146,076	K180E	possibly damaging	Het
Cadm1	C	T	9: 47,810,119	T269M	probably damaging	Het
Ccdc18	A	G	5: 108,161,582	R348G	probably benign	Het
Cers4	G	A	8: 4,516,980	C94Y	probably benign	Het
Cfap58	G	A	19: 47,941,277	R59H	probably benign	Het
Col19a1	C	T	1: 24,526,452	G266D	unknown	Het
Col6a5	G	T	9: 105,881,970	F2012L	probably damaging	Het
Dnah6	T	C	6: 73,191,605	Q445R	probably benign	Het
Dsg3	A	G	18: 20,524,586	S238G	probably benign	Het
E130308A19Rik	G	A	4: 59,691,132	S322N	probably benign	Het
Eif5b	A	G	1: 38,018,033	D57G	unknown	Het
Fbn2	T	C	18: 58,054,953		probably null	Het
Fbxo38	A	T	18: 62,536,147	C77*	probably null	Het
Fgb	T	A	3: 83,045,055	Q169L	probably benign	Het
Fut9	A	T	4: 25,619,774	Y347N	probably damaging	Het
Gabrg2	T	C	11: 41,971,861	K132R	probably damaging	Het
Gpn3	C	T	5: 122,372,575		probably benign	Het
Helz2	A	G	2: 181,233,202	L1833P	probably damaging	Het
Hk3	C	T	13: 55,011,157	D484N	probably benign	Het
Icam4	T	C	9: 21,029,952	V129A	probably damaging	Het
Impdh2	T	C	9: 108,563,439	S280P	possibly damaging	Het
Impg1	C	A	9: 80,394,074	G267V	probably benign	Het
Iqgap1	C	T	7: 80,799,890	V39M	possibly damaging	Het
Lyst	A	G	13: 13,643,504	N1253S	probably benign	Het
Mgat4b	T	A	11: 50,231,764	V195E	probably damaging	Het
Mrgprb8	C	T	7: 48,389,235	T218I	probably damaging	Het
Myrfl	T	G	10: 116,822,819	E411A	possibly damaging	Het
Myt1l	T	C	12: 29,827,798	S483P	unknown	Het
Neil2	A	G	14: 63,183,471	V80A	possibly damaging	Het
Nfe2l2	G	T	2: 75,676,819	D312E	probably damaging	Het
Nin	A	T	12: 70,045,615	L640Q	probably damaging	Het
Nup205	T	A	6: 35,236,869	I1732N	probably damaging	Het
Nupl2	T	C	5: 24,167,504	S97P	probably damaging	Het
Olfr1468-ps1	T	C	19: 13,375,405	C148R	unknown	Het
Olfr180	A	C	16: 58,916,246	Y132D	probably damaging	Het
Plcb1	A	T	2: 135,346,341	T785S	probably benign	Het
Plch1	C	T	3: 63,781,390	W131*	probably null	Het
Ppp1r1b	A	G	11: 98,355,390	E66G	probably damaging	Het
Ros1	A	T	10: 52,118,210	W1325R	probably benign	Het
Sec14l5	A	C	16: 5,180,277	E500A	possibly damaging	Het
Sirpb1c	A	G	3: 15,832,306	V302A	possibly damaging	Het
Spata19	T	C	9: 27,400,837	Y107H	possibly damaging	Het
Sv2a	G	A	3: 96,188,186	M298I	probably benign	Het
Tdrd6	A	T	17: 43,626,338	M1273K	probably benign	Het
Tectb	A	G	19: 55,191,472	H250R	possibly damaging	Het
Trip11	T	G	12: 101,885,578	E742D	possibly damaging	Het
Tslp	A	G	18: 32,817,090	T71A	probably benign	Het
Usp20	C	T	2: 31,017,758	R711C	possibly damaging	Het
Vmn1r181	G	A	7: 23,984,758	R216Q	probably benign	Het
Vmn2r8	A	T	5: 108,801,891	F363L	probably benign	Het
Vsnl1	T	A	12: 11,332,155	N75I	probably damaging	Het
Wdr55	A	T	18: 36,762,069	D96V	probably damaging	Het
Wls	T	A	3: 159,934,371		probably null	Het
Zc3h13	A	G	14: 75,308,915	D152G	probably damaging	Het
Zc3h18	A	G	8: 122,383,865	E151G	probably benign	Het
Zfat	A	G	15: 68,084,462	S1174P	probably damaging	Het
Zfyve9	T	A	4: 108,674,488	T416S	probably damaging	Het

Other mutations in Cadm3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01915:Cadm3	APN	1	173341108	missense	possibly damaging	0.66
IGL01989:Cadm3	APN	1	173338011	unclassified	probably benign
IGL02224:Cadm3	APN	1	173338061	missense	possibly damaging	0.51
IGL03105:Cadm3	APN	1	173345016	missense	probably damaging	0.96
R0243:Cadm3	UTSW	1	173346573	unclassified	probably benign
R0583:Cadm3	UTSW	1	173341171	missense	probably benign	0.00
R0689:Cadm3	UTSW	1	173344452	missense	possibly damaging	0.95
R2060:Cadm3	UTSW	1	173344402	missense	probably damaging	1.00
R2859:Cadm3	UTSW	1	173346545	missense	possibly damaging	0.90
R3764:Cadm3	UTSW	1	173346497	missense	probably damaging	1.00
R4077:Cadm3	UTSW	1	173341669	missense	probably benign	0.01
R4079:Cadm3	UTSW	1	173341669	missense	probably benign	0.01
R4521:Cadm3	UTSW	1	173345063	splice site	probably null
R4670:Cadm3	UTSW	1	173346446	missense	probably damaging	1.00
R4965:Cadm3	UTSW	1	173337097	missense	probably damaging	1.00
R5267:Cadm3	UTSW	1	173337102	missense	probably damaging	1.00
R6273:Cadm3	UTSW	1	173349124	unclassified	probably benign
R6342:Cadm3	UTSW	1	173341108	missense	possibly damaging	0.66
R6544:Cadm3	UTSW	1	173367411	critical splice donor site	probably null
R6565:Cadm3	UTSW	1	173341709	missense	possibly damaging	0.81
R7813:Cadm3	UTSW	1	173344389	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CAGTGTTTACTAAAGGGCTTCTC -3'
(R):5'- AGGGTCCAGACAATATCTATATGTG -3'

Sequencing Primer
(F):5'- ACTAAAGGGCTTCTCTTGTGAAG -3'
(R):5'- CAGTCTGTGTATAGTTAAAGTGTGTG -3'

Posted On

2018-04-02