Mutagenetix > Incidental Mutation

Incidental Mutation 'R4214:Cadm1'

319350

Institutional Source

Beutler Lab

Gene Symbol

Cadm1

Ensembl Gene

ENSMUSG00000032076

Gene Name

cell adhesion molecule 1

Synonyms

SynCam, RA175A, Igsf4a, RA175B, RA175C, RA175N, Igsf4, 2900073G06Rik, 3100001I08Rik, SgIGSF, Tslc1, Necl2

MMRRC Submission

041041-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4214 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

47530173-47857637 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 47797443 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 157 (D157G)

Ref Sequence

ENSEMBL: ENSMUSP00000124555 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034581] [ENSMUST00000085909] [ENSMUST00000114547] [ENSMUST00000114548] [ENSMUST00000143026] [ENSMUST00000152459]

AlphaFold

Q8R5M8

Predicted Effect

probably damaging
Transcript: ENSMUST00000034581
AA Change: D157G

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000034581
Gene: ENSMUSG00000032076
AA Change: D157G

Domain	Start	End	E-Value	Type
low complexity region	13	41	N/A	INTRINSIC
IG	52	144	3.33e-9	SMART
IG_like	160	230	8.08e-1	SMART
IGc2	261	323	2.08e-10	SMART
low complexity region	345	360	N/A	INTRINSIC
4.1m	370	388	1.5e-3	SMART
low complexity region	389	396	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000085909
AA Change: D157G

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000083073
Gene: ENSMUSG00000032076
AA Change: D157G

Domain	Start	End	E-Value	Type
low complexity region	13	41	N/A	INTRINSIC
IG	52	144	3.33e-9	SMART
IG_like	160	230	8.08e-1	SMART
IGc2	261	323	2.08e-10	SMART
low complexity region	336	368	N/A	INTRINSIC
low complexity region	384	399	N/A	INTRINSIC
4.1m	409	427	1.5e-3	SMART
low complexity region	428	435	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000114547
AA Change: D157G

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110194
Gene: ENSMUSG00000032076
AA Change: D157G

Domain	Start	End	E-Value	Type
low complexity region	13	41	N/A	INTRINSIC
IG	52	144	3.33e-9	SMART
IG_like	160	230	8.08e-1	SMART
IGc2	261	323	2.08e-10	SMART
low complexity region	336	362	N/A	INTRINSIC
low complexity region	373	388	N/A	INTRINSIC
4.1m	398	416	1.5e-3	SMART
low complexity region	417	424	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000114548
AA Change: D157G

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110195
Gene: ENSMUSG00000032076
AA Change: D157G

Domain	Start	End	E-Value	Type
low complexity region	13	41	N/A	INTRINSIC
IG	52	144	3.33e-9	SMART
IG_like	160	230	8.08e-1	SMART
IGc2	261	323	2.08e-10	SMART
low complexity region	356	371	N/A	INTRINSIC
4.1m	381	399	1.5e-3	SMART
low complexity region	400	407	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124073

Predicted Effect

probably damaging
Transcript: ENSMUST00000143026
AA Change: D157G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124555
Gene: ENSMUSG00000032076
AA Change: D157G

Domain	Start	End	E-Value	Type
low complexity region	13	41	N/A	INTRINSIC
IG	52	144	3.33e-9	SMART
IG_like	160	230	8.08e-1	SMART
IGc2	261	323	2.08e-10	SMART
transmembrane domain	349	371	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148925

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151624

Predicted Effect

possibly damaging
Transcript: ENSMUST00000152459
AA Change: D157G

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000124119
Gene: ENSMUSG00000032076
AA Change: D157G

Domain	Start	End	E-Value	Type
signal peptide	1	47	N/A	INTRINSIC
IG	52	144	3.33e-9	SMART
IG_like	160	230	8.08e-1	SMART
IGc2	261	323	2.08e-10	SMART
low complexity region	336	368	N/A	INTRINSIC
low complexity region	402	417	N/A	INTRINSIC
4.1m	427	445	1.5e-3	SMART
low complexity region	446	453	N/A	INTRINSIC

Meta Mutation Damage Score

0.1370

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 95.5%

Validation Efficiency

98% (64/65)

MGI Phenotype

PHENOTYPE: Homozygous mutant male show infertility due to block in maturation of spermatogenesis. Mice homozygous for a gene trap allele exhibit decreased body size, impaired T cell development, and impaired T cell response to anti-CD3/CD28 antibody stimulation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730013G03Rik	C	T	1: 192,833,537		noncoding transcript	Het
Abca12	T	A	1: 71,288,697	D1408V	probably damaging	Het
Abca13	A	T	11: 9,293,877	L1913F	probably damaging	Het
Acad9	A	G	3: 36,073,603	E118G	probably damaging	Het
Adamts5	G	A	16: 85,868,643	A590V	probably damaging	Het
Ano6	A	C	15: 95,965,909	Y791S	probably benign	Het
Aox2	T	C	1: 58,307,444		probably null	Het
Aox4	T	A	1: 58,221,892	I128N	probably damaging	Het
Atp2b3	A	G	X: 73,570,315	M1142V	probably benign	Het
AU041133	A	G	10: 82,151,389	H292R	probably damaging	Het
Bco2	A	G	9: 50,545,366	M158T	probably benign	Het
Bpnt1	T	A	1: 185,345,429		probably benign	Het
Catsperg1	T	C	7: 29,195,932	R499G	possibly damaging	Het
Ccr7	T	C	11: 99,145,046	E350G	probably damaging	Het
Ceacam5	T	A	7: 17,752,151	S524R	probably benign	Het
Cep78	T	C	19: 15,959,579	T588A	probably benign	Het
Cfap65	T	A	1: 74,927,681	E282D	possibly damaging	Het
Drd2	A	G	9: 49,404,921	K327R	probably benign	Het
Erich5	C	T	15: 34,471,411	P262L	possibly damaging	Het
Ezh2	A	C	6: 47,533,814	D578E	probably damaging	Het
Fez1	A	G	9: 36,870,488	N20S	probably damaging	Het
Folr2	T	G	7: 101,843,699	K39T	probably damaging	Het
Gm10549	G	T	18: 33,464,477		probably null	Het
Gm14393	C	T	2: 175,061,847	C89Y	probably benign	Het
Gm5329	T	G	7: 31,972,403		noncoding transcript	Het
Gm7367	A	G	7: 60,155,769		noncoding transcript	Het
Gpr162	A	T	6: 124,860,068	W338R	probably damaging	Het
Ift80	A	T	3: 68,990,808	F65I	possibly damaging	Het
Klra6	T	G	6: 130,018,922	I158L	probably benign	Het
Lpp	T	A	16: 24,762,054	Y173*	probably null	Het
Lrp12	A	G	15: 39,872,580	V671A	probably benign	Het
Lrrc27	C	T	7: 139,223,693	R178C	probably damaging	Het
Lrrc49	G	A	9: 60,666,326	T225M	probably benign	Het
Megf8	T	A	7: 25,355,368	S1915T	probably benign	Het
Mmadhc	T	C	2: 50,291,332	T109A	probably benign	Het
Mon2	T	C	10: 123,016,492	E992G	probably benign	Het
Msl3	A	T	X: 168,662,434	N430K	probably damaging	Het
Msl3	A	G	X: 168,667,063	I267T	probably damaging	Het
Nab2	G	T	10: 127,665,048	Y25*	probably null	Het
Notch3	T	C	17: 32,132,207	E1938G	possibly damaging	Het
Olfr291	C	T	7: 84,857,289	H307Y	probably benign	Het
Osgepl1	A	G	1: 53,315,008	T44A	probably damaging	Het
Pdpr	A	G	8: 111,129,580		probably benign	Het
Pfkp	A	G	13: 6,619,225	S241P	probably damaging	Het
Phgdh	A	T	3: 98,328,061	S166T	possibly damaging	Het
Plcl1	C	T	1: 55,751,335	Q1055*	probably null	Het
Plscr2	A	G	9: 92,287,737	N80S	probably benign	Het
Polr3k	A	T	2: 181,868,242	M80L	probably benign	Het
Prex2	A	G	1: 11,101,159	D304G	probably damaging	Het
Prex2	A	G	1: 11,285,061	T1529A	probably damaging	Het
Rcvrn	A	T	11: 67,695,688	H91L	possibly damaging	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Tbx18	T	C	9: 87,724,465	Y209C	probably damaging	Het
Themis3	T	C	17: 66,560,017	N76S	probably benign	Het
Trhde	A	T	10: 114,788,070	S310T	possibly damaging	Het
Vmn1r213	G	A	13: 23,012,003	C252Y	possibly damaging	Het
Zfp523	T	C	17: 28,201,029	V216A	probably benign	Het

Other mutations in Cadm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01697:Cadm1	APN	9	47850324	missense	probably damaging	1.00
IGL01899:Cadm1	APN	9	47810091	missense	probably damaging	0.97
IGL02154:Cadm1	APN	9	47813903	missense	probably benign	0.00
IGL03196:Cadm1	APN	9	47799377	missense	possibly damaging	0.81
R0053:Cadm1	UTSW	9	47799414	missense	probably damaging	1.00
R0053:Cadm1	UTSW	9	47799414	missense	probably damaging	1.00
R0058:Cadm1	UTSW	9	47850331	missense	probably damaging	1.00
R0058:Cadm1	UTSW	9	47850331	missense	probably damaging	1.00
R0671:Cadm1	UTSW	9	47813806	missense	probably benign	0.30
R0717:Cadm1	UTSW	9	47810068	missense	probably benign	0.14
R1622:Cadm1	UTSW	9	47813841	missense	probably benign	0.35
R1817:Cadm1	UTSW	9	47829370	splice site	probably benign
R1958:Cadm1	UTSW	9	47850335	missense	probably damaging	1.00
R3124:Cadm1	UTSW	9	47799477	missense	possibly damaging	0.94
R4449:Cadm1	UTSW	9	47813988	intron	probably benign
R4449:Cadm1	UTSW	9	47530437	missense	possibly damaging	0.85
R4701:Cadm1	UTSW	9	47818822	splice site	probably benign
R5932:Cadm1	UTSW	9	47799451	missense	probably damaging	1.00
R6013:Cadm1	UTSW	9	47857274	unclassified	probably benign
R6315:Cadm1	UTSW	9	47810119	missense	probably damaging	0.98
R6481:Cadm1	UTSW	9	47788109	missense	probably damaging	1.00
R7121:Cadm1	UTSW	9	47799410	missense	probably damaging	1.00
R7582:Cadm1	UTSW	9	47797442	missense	probably damaging	0.99
R8710:Cadm1	UTSW	9	47848168	missense	probably damaging	0.99
R8943:Cadm1	UTSW	9	47789838	missense	probably damaging	0.99
R9258:Cadm1	UTSW	9	47799432	missense	probably benign	0.01
R9300:Cadm1	UTSW	9	47797523	nonsense	probably null
R9675:Cadm1	UTSW	9	47530454	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- ACATGACATTGTCTATCCAGTTCC -3'
(R):5'- TTGTAATTTCCGCAAAGGGCC -3'

Sequencing Primer
(F):5'- GCAGTTTGTCATCTGGAAGTGATC -3'
(R):5'- CAAAGGGCCCCTTGCTAGATAG -3'

Posted On

2015-06-10