Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01606:Ceacam2'

93413

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ceacam2

Ensembl Gene

ENSMUSG00000054385

Gene Name

carcinoembryonic antigen-related cell adhesion molecule 2

Synonyms

Bgp2

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

IGL01606

Quality Score

Status

Chromosome

Chromosomal Location

25516042-25539857 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25530707 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 158 (E158G)

Ref Sequence

ENSEMBL: ENSMUSP00000048118 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044547] [ENSMUST00000064862] [ENSMUST00000066503]

AlphaFold

Q925P2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044547
AA Change: E158G

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000048118
Gene: ENSMUSG00000054385
AA Change: E158G

Domain	Start	End	E-Value	Type
signal peptide	1	34	N/A	INTRINSIC
IG	40	143	4.15e0	SMART
IGc2	158	224	1.99e-7	SMART
IGc2	252	308	5.04e-9	SMART
IGc2	337	401	3.28e-8	SMART
transmembrane domain	422	444	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000064862

SMART Domains

Protein: ENSMUSP00000068540
Gene: ENSMUSG00000054385

Domain	Start	End	E-Value	Type
low complexity region	18	27	N/A	INTRINSIC
IG_like	40	143	6.69e0	SMART
IGc2	157	221	3.28e-8	SMART
transmembrane domain	244	266	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000066503

SMART Domains

Protein: ENSMUSP00000064255
Gene: ENSMUSG00000054385

Domain	Start	End	E-Value	Type
low complexity region	18	27	N/A	INTRINSIC
IG_like	40	143	6.69e0	SMART
IGc2	157	221	3.28e-8	SMART
transmembrane domain	242	264	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145681

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206300

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit female-specific obesity, disruption in glucose homeostasis, hyperphagia, hyperinsulinemia and decreased energy expenditure. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	A	G	17: 14,943,863	D84G	probably damaging	Het
Adat3	A	T	10: 80,607,338	I337F	probably damaging	Het
Carmil3	T	A	14: 55,493,849	N128K	possibly damaging	Het
Cel	T	C	2: 28,560,564	I150V	probably benign	Het
Chd5	A	G	4: 152,360,975	H441R	probably damaging	Het
Clic5	G	T	17: 44,248,746	R109L	probably benign	Het
Cpd	T	C	11: 76,812,640	M466V	probably benign	Het
Cyp39a1	T	A	17: 43,746,618		probably benign	Het
Dnah11	C	A	12: 117,983,032	A3106S	probably benign	Het
Fasn	A	C	11: 120,809,023		probably null	Het
Fat1	G	A	8: 45,023,049	V1688I	probably benign	Het
Fibcd1	A	G	2: 31,833,853	I258T	probably benign	Het
Frem2	C	A	3: 53,653,591	R1165I	possibly damaging	Het
Gm5627	C	T	9: 102,749,486		noncoding transcript	Het
Gm5862	T	A	5: 26,019,516	T152S	probably benign	Het
Gnb3	T	A	6: 124,837,255	D154V	probably damaging	Het
Ighv1-14	T	C	12: 114,646,837		noncoding transcript	Het
Klrb1	C	A	6: 128,723,005	E14D	probably benign	Het
Osbpl1a	A	T	18: 12,756,214	D556E	possibly damaging	Het
Pkd1	T	C	17: 24,576,523	V2330A	probably damaging	Het
Pkdrej	T	C	15: 85,817,700	K1345R	possibly damaging	Het
Plxna4	A	G	6: 32,158,001	F1756L	probably damaging	Het
Psg28	A	C	7: 18,430,371	S139A	probably benign	Het
Ptpru	A	T	4: 131,808,481	I395N	possibly damaging	Het
Reps1	A	G	10: 18,107,687	E426G	probably damaging	Het
Rtp4	T	A	16: 23,613,254	S179T	probably benign	Het
Sh3pxd2a	C	A	19: 47,268,596	R561L	probably benign	Het
Slc29a2	T	A	19: 5,027,439	L215Q	possibly damaging	Het
Slc44a4	T	C	17: 34,929,018	F653L	probably damaging	Het
Sulf1	G	T	1: 12,836,204	R490L	possibly damaging	Het
Ttll4	T	C	1: 74,685,893	L602P	probably damaging	Het
Ttn	A	G	2: 76,776,790	V17963A	probably damaging	Het
Urb1	A	G	16: 90,760,459	S1760P	probably damaging	Het
Zmynd11	G	A	13: 9,697,688	R149W	probably damaging	Het

Other mutations in Ceacam2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00788:Ceacam2	APN	7	25538573	critical splice donor site	probably null
IGL02106:Ceacam2	APN	7	25530741	missense	probably benign
IGL02506:Ceacam2	APN	7	25527954	missense	probably benign	0.34
IGL02820:Ceacam2	APN	7	25519986	missense	probably damaging	1.00
R0514:Ceacam2	UTSW	7	25520931	missense	probably benign	0.43
R2146:Ceacam2	UTSW	7	25527943	nonsense	probably null
R3854:Ceacam2	UTSW	7	25538802	missense	probably benign	0.06
R4887:Ceacam2	UTSW	7	25520832	missense	probably benign	0.00
R6480:Ceacam2	UTSW	7	25519989	missense	probably damaging	1.00
R6533:Ceacam2	UTSW	7	25530711	missense	probably benign	0.03
R6709:Ceacam2	UTSW	7	25529837	missense	possibly damaging	0.95
R6711:Ceacam2	UTSW	7	25538870	missense	probably benign
R6853:Ceacam2	UTSW	7	25518136	missense	possibly damaging	0.54
R7177:Ceacam2	UTSW	7	25520916	missense	probably benign	0.11
R7548:Ceacam2	UTSW	7	25530533	missense	probably benign	0.00
R7567:Ceacam2	UTSW	7	25527908	missense	probably benign	0.12
R7709:Ceacam2	UTSW	7	25538651	missense	probably damaging	0.97
R8378:Ceacam2	UTSW	7	25518172	missense	probably damaging	0.99
R8527:Ceacam2	UTSW	7	25538730	missense	probably benign	0.03
R8878:Ceacam2	UTSW	7	25527926	missense	probably benign	0.06
R9186:Ceacam2	UTSW	7	25527788	missense	probably damaging	1.00
R9321:Ceacam2	UTSW	7	25530664	missense	possibly damaging	0.84

Posted On

2013-12-09