Incidental Mutation 'IGL02820:Ceacam2'
ID360982
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: 0.096) question?
Stock #IGL02820
Quality Score
Status
Chromosome7
Chromosomal Location25516042-25539857 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 25519986 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 283 (H283L)
Ref Sequence ENSEMBL: ENSMUSP00000064255 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044547] [ENSMUST00000064862] [ENSMUST00000066503]
Predicted Effect possibly damaging
Transcript: ENSMUST00000044547
AA Change: H463L

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000048118
Gene: ENSMUSG00000054385
AA Change: H463L

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 damaging
Transcript: ENSMUST00000066503
AA Change: H283L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000064255
Gene: ENSMUSG00000054385
AA Change: H283L

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030624G23Rik T C 12: 24,074,416 Y86C probably benign Het
Adgra2 G A 8: 27,117,507 V47M probably damaging Het
Anks1b T C 10: 90,077,059 C349R possibly damaging Het
Anks4b A T 7: 120,182,691 probably benign Het
Apobec2 A G 17: 48,423,267 S124P probably damaging Het
Brd8 G A 18: 34,607,301 S493L probably benign Het
Cbln3 A G 14: 55,883,487 Y126H probably damaging Het
Ccdc138 T C 10: 58,528,899 probably benign Het
Cckbr C T 7: 105,434,031 A147V probably damaging Het
Clasp1 A G 1: 118,551,104 D718G possibly damaging Het
Clmn A T 12: 104,773,234 Y979N probably damaging Het
Ddias T C 7: 92,859,343 T455A probably benign Het
Dennd5b T C 6: 149,019,342 R851G probably null Het
Dock1 T C 7: 135,167,215 V1771A probably benign Het
Dysf T A 6: 84,100,205 L694Q probably damaging Het
Faim2 T C 15: 99,521,257 Y77C probably benign Het
Fbxw22 A T 9: 109,386,664 I172N probably damaging Het
Fhad1 C T 4: 141,918,758 D298N probably benign Het
Fyb T G 15: 6,658,559 V800G possibly damaging Het
Gcm1 T C 9: 78,064,562 F262L probably benign Het
Gm21983 T C 7: 27,180,180 M121V probably benign Het
Gm9996 A T 10: 29,143,661 probably benign Het
Gstm3 A T 3: 107,968,758 probably benign Het
Gsto2 G T 19: 47,874,959 E91D probably damaging Het
Hs6st3 G T 14: 119,139,080 M222I possibly damaging Het
Ighv3-6 T C 12: 114,288,230 D90G probably damaging Het
Itgb1bp1 C T 12: 21,276,853 A40T possibly damaging Het
Kcns3 C T 12: 11,091,871 E276K probably benign Het
Lamc3 C T 2: 31,923,022 R1007C probably damaging Het
Lnx2 A T 5: 147,042,067 M125K probably damaging Het
Lyst T A 13: 13,638,058 N1018K probably benign Het
Mctp2 T A 7: 72,245,542 S186C probably damaging Het
Mettl7a1 C A 15: 100,305,052 S51* probably null Het
Olfr352 A T 2: 36,869,859 T98S probably benign Het
Polg T C 7: 79,459,771 T433A possibly damaging Het
Rdh13 C T 7: 4,435,060 V127M probably damaging Het
Rdh16 A G 10: 127,813,601 T309A probably benign Het
Reep5 A T 18: 34,373,259 D21E probably benign Het
Rptn A T 3: 93,396,920 N520I probably benign Het
Rttn T C 18: 89,028,998 L928P probably damaging Het
Slc44a2 A G 9: 21,342,977 I212V probably benign Het
Snupn A G 9: 56,963,048 T71A probably benign Het
Ssu2 T C 6: 112,382,392 N89S probably benign Het
Thsd7a A G 6: 12,321,072 S1535P probably damaging Het
Uba7 A T 9: 107,981,516 S849C probably benign Het
Vmn2r80 A G 10: 79,171,605 T472A probably benign Het
Wdr6 A G 9: 108,578,544 I17T probably benign Het
Wdr66 A G 5: 123,254,636 probably benign Het
Xkr9 G A 1: 13,700,949 V230I probably benign Het
Other mutations in Ceacam2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00788:Ceacam2 APN 7 25538573 critical splice donor site probably null
IGL01606:Ceacam2 APN 7 25530707 missense possibly damaging 0.95
IGL02106:Ceacam2 APN 7 25530741 missense probably benign
IGL02506:Ceacam2 APN 7 25527954 missense probably benign 0.34
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
Posted On2015-12-18