Incidental Mutation 'R7760:Ceacam1'
ID 597791
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 045816-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.118) question?
Stock # R7760 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 25161132-25177028 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 25171450 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 338 (E338V)
Ref Sequence ENSEMBL: ENSMUSP00000096263 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098666] [ENSMUST00000098668] [ENSMUST00000098669] [ENSMUST00000205308] [ENSMUST00000206171] [ENSMUST00000206583] [ENSMUST00000206676] [ENSMUST00000206687]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000098666
AA Change: E338V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000096263
Gene: ENSMUSG00000074272
AA Change: E338V

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 damaging
Transcript: ENSMUST00000098668
AA Change: E158V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000096265
Gene: ENSMUSG00000074272
AA Change: E158V

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 benign
Transcript: ENSMUST00000098669
AA Change: E338V

PolyPhen 2 Score 0.343 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000096266
Gene: ENSMUSG00000074272
AA Change: E338V

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 damaging
Transcript: ENSMUST00000205308
AA Change: E158V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000206171
AA Change: E338V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000206583
Predicted Effect probably damaging
Transcript: ENSMUST00000206676
AA Change: E338V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect possibly damaging
Transcript: ENSMUST00000206687
AA Change: E158V

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (55/55)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anxa11 C T 14: 25,873,251 (GRCm39) Q162* probably null Het
Arg1 T G 10: 24,803,361 (GRCm39) probably benign Het
Arl6 T C 16: 59,439,169 (GRCm39) D175G probably damaging Het
Capg A G 6: 72,534,769 (GRCm39) R199G probably damaging Het
Clec4d A G 6: 123,247,300 (GRCm39) N148D probably benign Het
Ctr9 T G 7: 110,645,808 (GRCm39) I653R probably damaging Het
Dmwd C T 7: 18,814,660 (GRCm39) L437F probably damaging Het
Dnah7b T A 1: 46,240,413 (GRCm39) L1510Q probably damaging Het
Efcab5 T A 11: 77,042,752 (GRCm39) E136D probably benign Het
Elfn2 C T 15: 78,558,041 (GRCm39) A169T probably benign Het
Elp1 A G 4: 56,790,892 (GRCm39) V287A probably benign Het
Esrp2 T A 8: 106,860,102 (GRCm39) E326D probably benign Het
Fbrs T C 7: 127,088,572 (GRCm39) V718A probably damaging Het
Fbxl21 C T 13: 56,684,816 (GRCm39) R307C probably benign Het
Fbxl21 T C 13: 56,674,747 (GRCm39) S33P probably benign Het
Gatad2b C T 3: 90,261,776 (GRCm39) R461W probably damaging Het
Gm19410 T A 8: 36,269,491 (GRCm39) C1109S probably damaging Het
Gm6882 T A 7: 21,161,409 (GRCm39) D153V probably damaging Het
Golga3 A G 5: 110,353,716 (GRCm39) E918G probably benign Het
Greb1 T C 12: 16,773,417 (GRCm39) N219S probably benign Het
Grpel1 G T 5: 36,627,986 (GRCm39) R89L probably damaging Het
Ighv5-12 T A 12: 113,665,795 (GRCm39) Q101L probably benign Het
Ldb3 T A 14: 34,264,460 (GRCm39) N590I probably damaging Het
Man2c1 T C 9: 57,046,647 (GRCm39) V636A probably benign Het
Mblac2 G T 13: 81,859,996 (GRCm39) V117L probably benign Het
Muc6 T A 7: 141,237,322 (GRCm39) probably null Het
Nfatc3 A G 8: 106,834,973 (GRCm39) E773G possibly damaging Het
Ngef T C 1: 87,468,495 (GRCm39) D88G probably benign Het
Nipbl T C 15: 8,388,186 (GRCm39) E478G probably damaging Het
Or2t6 T C 14: 14,175,905 (GRCm38) Y59C probably damaging Het
Pbx4 C A 8: 70,285,445 (GRCm39) D29E probably benign Het
Pcdhgb5 A G 18: 37,864,690 (GRCm39) I162V not run Het
Pdcd11 G A 19: 47,101,637 (GRCm39) V941M possibly damaging Het
Pigr A T 1: 130,774,368 (GRCm39) R449S possibly damaging Het
Plcb2 T C 2: 118,541,869 (GRCm39) T914A probably benign Het
Ppp5c A G 7: 16,740,274 (GRCm39) S387P probably damaging Het
Rnf7l T C 10: 63,257,316 (GRCm39) K68R probably damaging Het
Rtkn2 T G 10: 67,841,439 (GRCm39) S196A probably damaging Het
Sec31a A G 5: 100,540,487 (GRCm39) F400L probably damaging Het
Senp7 A T 16: 55,959,442 (GRCm39) M251L probably benign Het
Slc6a5 T C 7: 49,596,365 (GRCm39) F612L probably benign Het
Slc7a9 T C 7: 35,156,500 (GRCm39) I314T possibly damaging Het
Smc5 A C 19: 23,213,254 (GRCm39) S553A probably benign Het
Spaca3 T A 11: 80,755,389 (GRCm39) V133D probably damaging Het
Taco1 T A 11: 105,963,938 (GRCm39) D232E possibly damaging Het
Tarbp1 C T 8: 127,179,546 (GRCm39) R664H not run Het
Tlk2 T C 11: 105,169,993 (GRCm39) I674T probably damaging Het
Tnxb A T 17: 34,931,911 (GRCm39) E2148V probably damaging Het
Tom1l2 T C 11: 60,165,791 (GRCm39) S59G probably benign Het
Traj46 A T 14: 54,409,813 (GRCm39) H7L Het
Traj46 T G 14: 54,409,814 (GRCm39) H7Q Het
Trav6-4 T A 14: 53,692,103 (GRCm39) L70Q possibly damaging Het
Trmt1l C T 1: 151,318,425 (GRCm39) T245I possibly damaging Het
Wac T A 18: 7,921,913 (GRCm39) C601S probably benign Het
Wnt3 T A 11: 103,702,266 (GRCm39) H145Q probably benign Het
Zfp948 T C 17: 21,808,628 (GRCm39) C607R probably damaging 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
R6545:Ceacam1 UTSW 7 25,173,279 (GRCm39) missense probably damaging 1.00
R7371:Ceacam1 UTSW 7 25,174,145 (GRCm39) missense possibly damaging 0.95
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'- TGACGCTGACTGGATTCGAG -3'
(R):5'- GGGTAGGAGGAGTTTACATCTCTC -3'

Sequencing Primer
(F):5'- GCTGACTGGATTCGAGATTTCACAC -3'
(R):5'- GGAGTTTACATCTCTCTCCTTACAG -3'
Posted On 2019-11-26