Incidental Mutation 'R6545:Ceacam1'
ID 521102
Institutional Source Beutler Lab
Gene Symbol Ceacam1
Ensembl Gene ENSMUSG00000074272
Gene Name CEA cell adhesion molecule 1
Synonyms C-CAM, Hv-2, mmCGM1, Hv2, Cea7, mCEA1, MHVR1, CD66a, Cc1, Cea-1, mmCGM2, Cea-7, Bgp1, Mhv-1, Cea1, Bgp
MMRRC Submission 044671-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.118) question?
Stock # R6545 (G1)
Quality Score 99.0078
Status Not validated
Chromosome 7
Chromosomal Location 25161132-25177028 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 25173279 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 303 (V303D)
Ref Sequence ENSEMBL: ENSMUSP00000145584 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098666] [ENSMUST00000098668] [ENSMUST00000098669] [ENSMUST00000205308] [ENSMUST00000206171] [ENSMUST00000206676] [ENSMUST00000206583] [ENSMUST00000206687]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000098666
AA Change: V303D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000096263
Gene: ENSMUSG00000074272
AA Change: V303D

DomainStartEndE-ValueType
Pfam:V-set 18 140 1e-21 PFAM
IGc2 158 224 1.61e-7 SMART
IGc2 252 308 5.04e-9 SMART
IGc2 337 401 8.37e-15 SMART
transmembrane domain 426 448 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000098668
SMART Domains Protein: ENSMUSP00000096265
Gene: ENSMUSG00000074272

DomainStartEndE-ValueType
Pfam:V-set 12 140 2.4e-21 PFAM
IGc2 157 221 8.37e-15 SMART
transmembrane domain 246 268 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000098669
AA Change: V303D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000096266
Gene: ENSMUSG00000074272
AA Change: V303D

DomainStartEndE-ValueType
signal peptide 1 34 N/A INTRINSIC
Pfam:V-set 39 141 3.6e-13 PFAM
IGc2 158 224 1.61e-7 SMART
IGc2 252 308 5.04e-9 SMART
IGc2 337 401 8.37e-15 SMART
transmembrane domain 426 448 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000205308
Predicted Effect probably damaging
Transcript: ENSMUST00000206171
AA Change: V303D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206300
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206483
Predicted Effect probably damaging
Transcript: ENSMUST00000206676
AA Change: V303D

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206981
Predicted Effect probably benign
Transcript: ENSMUST00000206583
Predicted Effect probably benign
Transcript: ENSMUST00000206687
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206717
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.6%
Validation Efficiency 95% (42/44)
MGI Phenotype PHENOTYPE: Mice lacking appreciable levels of the two isoforms containing 4 Ig domains and having increased levels of the two isoforms containing 2 Ig domains are viable and fertile. They are significantly more resistant to mouse hepatitis virus than wild-type mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago1 C T 4: 126,348,145 (GRCm39) A58T possibly damaging Het
Ago4 T A 4: 126,405,811 (GRCm39) Q366L probably benign Het
Card10 C A 15: 78,661,010 (GRCm39) G950V probably damaging Het
Cfap54 C T 10: 92,672,319 (GRCm39) R2917H probably benign Het
Cit A G 5: 115,984,493 (GRCm39) S22G probably null Het
Cog4 A G 8: 111,607,577 (GRCm39) E666G probably damaging Het
Crocc2 A G 1: 93,140,659 (GRCm39) D1103G probably benign Het
Cttnbp2 A T 6: 18,405,278 (GRCm39) probably null Het
Dctn3 T C 4: 41,723,084 (GRCm39) E16G probably damaging Het
Dnah6 A G 6: 73,021,715 (GRCm39) S3536P probably damaging Het
Eef2 T A 10: 81,016,948 (GRCm39) I675N probably damaging Het
Gga3 A G 11: 115,477,995 (GRCm39) F531S possibly damaging Het
Gm19410 A G 8: 36,257,652 (GRCm39) R697G possibly damaging Het
Gm3173 T A 14: 15,728,395 (GRCm39) M18K possibly damaging Het
Gm5800 A T 14: 51,949,419 (GRCm39) S175R possibly damaging Het
Gria2 T C 3: 80,648,451 (GRCm39) K95R probably damaging Het
Gstm6 A G 3: 107,849,681 (GRCm39) I76T probably damaging Het
Harbi1 T G 2: 91,542,640 (GRCm39) Y34D probably damaging Het
Hectd2 C A 19: 36,564,778 (GRCm39) Q20K probably benign Het
Inpp5f C A 7: 128,296,280 (GRCm39) A250D possibly damaging Het
Irf9 T C 14: 55,842,684 (GRCm39) F59L probably damaging Het
Itgam T A 7: 127,707,044 (GRCm39) M625K probably damaging Het
Kcnh5 C T 12: 75,054,432 (GRCm39) R504Q probably damaging Het
Lama2 T C 10: 27,052,793 (GRCm39) T1389A probably benign Het
Lin54 T A 5: 100,632,996 (GRCm39) probably null Het
Mettl23 A G 11: 116,740,042 (GRCm39) D171G possibly damaging Het
Mgll A G 6: 88,802,685 (GRCm39) N296S probably benign Het
Mpv17 T A 5: 31,302,041 (GRCm39) probably benign Het
Myof A T 19: 37,930,745 (GRCm39) M1001K possibly damaging Het
Myom1 A T 17: 71,389,300 (GRCm39) Q850L probably benign Het
Or10ab5 A T 7: 108,245,662 (GRCm39) N40K probably damaging Het
Pias2 A G 18: 77,217,781 (GRCm39) I328V possibly damaging Het
Polh G A 17: 46,493,685 (GRCm39) P311S possibly damaging Het
Prss34 A T 17: 25,517,809 (GRCm39) R61S probably benign Het
Rassf2 A T 2: 131,840,237 (GRCm39) M280K probably damaging Het
Rpsa A G 9: 119,959,323 (GRCm39) H47R probably benign Het
Rtp3 A G 9: 110,815,894 (GRCm39) V219A possibly damaging Het
Smarcc2 T C 10: 128,319,997 (GRCm39) I790T probably benign Het
Stag3 A G 5: 138,296,614 (GRCm39) T491A possibly damaging Het
Svil C T 18: 5,108,621 (GRCm39) H2007Y probably benign Het
Togaram1 T G 12: 65,024,981 (GRCm39) C750G possibly damaging Het
Vmn2r13 A T 5: 109,304,806 (GRCm39) probably null Het
Vmn2r4 A T 3: 64,313,777 (GRCm39) D401E possibly damaging Het
Wdr97 C T 15: 76,247,578 (GRCm39) R1585C probably damaging Het
Wsb1 A T 11: 79,141,881 (GRCm39) D45E probably damaging Het
Zfp808 T A 13: 62,319,709 (GRCm39) Y313N probably benign Het
Other mutations in Ceacam1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00701:Ceacam1 APN 7 25,171,339 (GRCm39) missense possibly damaging 0.86
IGL01766:Ceacam1 APN 7 25,171,420 (GRCm39) missense probably damaging 1.00
IGL02094:Ceacam1 APN 7 25,173,968 (GRCm39) missense probably damaging 1.00
IGL02869:Ceacam1 APN 7 25,175,966 (GRCm39) missense probably benign 0.07
IGL03325:Ceacam1 APN 7 25,175,912 (GRCm39) missense possibly damaging 0.83
PIT4445001:Ceacam1 UTSW 7 25,175,881 (GRCm39) missense probably damaging 1.00
PIT4810001:Ceacam1 UTSW 7 25,171,400 (GRCm39) missense probably damaging 1.00
R0464:Ceacam1 UTSW 7 25,171,442 (GRCm39) missense possibly damaging 0.64
R1270:Ceacam1 UTSW 7 25,165,739 (GRCm39) splice site probably null
R1771:Ceacam1 UTSW 7 25,171,469 (GRCm39) missense probably benign 0.17
R1819:Ceacam1 UTSW 7 25,163,285 (GRCm39) missense possibly damaging 0.68
R1964:Ceacam1 UTSW 7 25,174,133 (GRCm39) missense probably benign 0.13
R2048:Ceacam1 UTSW 7 25,176,113 (GRCm39) missense probably benign 0.09
R2760:Ceacam1 UTSW 7 25,176,899 (GRCm39) missense probably damaging 0.99
R2857:Ceacam1 UTSW 7 25,173,442 (GRCm39) missense probably damaging 0.96
R2859:Ceacam1 UTSW 7 25,173,442 (GRCm39) missense probably damaging 0.96
R3546:Ceacam1 UTSW 7 25,171,339 (GRCm39) missense probably benign 0.07
R4471:Ceacam1 UTSW 7 25,174,025 (GRCm39) missense possibly damaging 0.93
R4606:Ceacam1 UTSW 7 25,173,951 (GRCm39) missense probably damaging 0.97
R4810:Ceacam1 UTSW 7 25,173,945 (GRCm39) makesense probably null
R5291:Ceacam1 UTSW 7 25,171,256 (GRCm39) missense probably damaging 0.99
R5405:Ceacam1 UTSW 7 25,163,290 (GRCm39) missense probably benign 0.41
R5423:Ceacam1 UTSW 7 25,173,951 (GRCm39) missense probably benign 0.01
R5851:Ceacam1 UTSW 7 25,174,025 (GRCm39) missense possibly damaging 0.70
R5967:Ceacam1 UTSW 7 25,174,167 (GRCm39) missense probably damaging 0.97
R6216:Ceacam1 UTSW 7 25,171,421 (GRCm39) missense probably benign 0.19
R6235:Ceacam1 UTSW 7 25,171,217 (GRCm39) splice site probably null
R6323:Ceacam1 UTSW 7 25,174,076 (GRCm39) missense probably damaging 1.00
R7371:Ceacam1 UTSW 7 25,174,145 (GRCm39) missense possibly damaging 0.95
R7760:Ceacam1 UTSW 7 25,171,450 (GRCm39) missense probably damaging 1.00
R7790:Ceacam1 UTSW 7 25,173,375 (GRCm39) missense probably damaging 1.00
R7869:Ceacam1 UTSW 7 25,175,954 (GRCm39) missense probably damaging 0.97
R7934:Ceacam1 UTSW 7 25,163,220 (GRCm39) missense possibly damaging 0.68
R8189:Ceacam1 UTSW 7 25,173,343 (GRCm39) missense probably damaging 0.96
R8907:Ceacam1 UTSW 7 25,171,444 (GRCm39) missense possibly damaging 0.88
R8967:Ceacam1 UTSW 7 25,163,297 (GRCm39) missense possibly damaging 0.48
R9055:Ceacam1 UTSW 7 25,171,299 (GRCm39) missense probably damaging 1.00
R9149:Ceacam1 UTSW 7 25,173,360 (GRCm39) missense possibly damaging 0.94
R9529:Ceacam1 UTSW 7 25,171,231 (GRCm39) missense possibly damaging 0.92
X0028:Ceacam1 UTSW 7 25,175,845 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGATTGCATTTTGCCTGTTCC -3'
(R):5'- CTCTGCTGACGTCACATTTG -3'

Sequencing Primer
(F):5'- TTGCCTGTTCCCATAGAAACAGG -3'
(R):5'- TTTGCTCCAGATGGTCCGGAC -3'
Posted On 2018-06-06