Incidental Mutation 'IGL01606:Ceacam2'
ID93413
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ceacam2
Ensembl Gene ENSMUSG00000054385
Gene Namecarcinoembryonic antigen-related cell adhesion molecule 2
SynonymsBgp2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.137) question?
Stock #IGL01606
Quality Score
Status
Chromosome7
Chromosomal Location25516042-25539857 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 25530707 bp
ZygosityHeterozygous
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]
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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
Posted On2013-12-09