Incidental Mutation 'R6491:Ceacam12'
ID522873
Institutional Source Beutler Lab
Gene Symbol Ceacam12
Ensembl Gene ENSMUSG00000030366
Gene Namecarcinoembryonic antigen-related cell adhesion molecule 12
SynonymsCeacam12-C1, Ceacam12-C3, 1600031J20Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R6491 (G1)
Quality Score225.009
Status Validated
Chromosome7
Chromosomal Location18065929-18077986 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 18069260 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Methionine at position 197 (K197M)
Ref Sequence ENSEMBL: ENSMUSP00000104127 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032520] [ENSMUST00000108483] [ENSMUST00000108487]
Predicted Effect probably damaging
Transcript: ENSMUST00000032520
AA Change: K197M

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000032520
Gene: ENSMUSG00000030366
AA Change: K197M

DomainStartEndE-ValueType
IG 40 141 7.77e-1 SMART
IG_like 159 260 4.78e1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000108483
AA Change: K197M

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000104123
Gene: ENSMUSG00000030366
AA Change: K197M

DomainStartEndE-ValueType
IG 40 141 7.77e-1 SMART
IG_like 159 260 4.78e1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000108487
AA Change: K197M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104127
Gene: ENSMUSG00000030366
AA Change: K197M

DomainStartEndE-ValueType
IG 40 141 7.77e-1 SMART
IG_like 159 260 4.78e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205637
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.5%
Validation Efficiency 100% (35/35)
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T C 13: 119,475,972 L431P probably damaging Het
Acad10 A C 5: 121,630,157 W779G probably damaging Het
Acrbp A G 6: 125,051,479 probably benign Het
Ank3 G A 10: 69,991,629 A565T probably benign Het
Ap2a1 A T 7: 44,916,164 I93K probably damaging Het
Arnt T A 3: 95,476,143 M240K probably damaging Het
Cep41 T C 6: 30,656,484 N323S probably benign Het
Dst A G 1: 34,193,012 T2904A probably benign Het
Eml1 G A 12: 108,513,071 probably null Het
Fbln2 A G 6: 91,259,750 N749S possibly damaging Het
Irf2bpl A G 12: 86,883,464 V145A probably benign Het
Itga2b T C 11: 102,459,869 probably null Het
Itga8 T C 2: 12,204,776 D466G probably damaging Het
Kdm4c G T 4: 74,373,636 C830F probably damaging Het
Mrps27 T C 13: 99,363,030 S73P probably damaging Het
Mtdh T G 15: 34,116,327 N17K probably damaging Het
Muc3a A G 5: 137,212,128 S9P probably benign Het
Olfr910 A G 9: 38,647,455 L23P probably damaging Het
Oxgr1 T A 14: 120,022,007 I263F probably benign Het
Phc1 A G 6: 122,334,964 Het
Ppp2r5d A G 17: 46,685,583 F388S probably damaging Het
Pxmp4 A G 2: 154,592,163 probably null Het
Rnd2 C T 11: 101,468,999 L57F probably damaging Het
Ror1 A G 4: 100,409,912 N270S possibly damaging Het
Slc7a14 T C 3: 31,223,944 Y504C probably damaging Het
Snx9 A G 17: 5,920,162 D391G probably benign Het
St18 T A 1: 6,827,985 Y670* probably null Het
Tjp1 A T 7: 65,337,117 F207I possibly damaging Het
Trappc3 A G 4: 126,275,229 I171V probably benign Het
Ugt2b5 A T 5: 87,125,469 L446* probably null Het
Vmn2r105 A T 17: 20,227,730 Y277* probably null Het
Vmn2r11 A T 5: 109,048,934 N557K possibly damaging Het
Yod1 G A 1: 130,717,538 G19S probably damaging Het
Zfp938 A G 10: 82,227,529 *65Q probably null Het
Other mutations in Ceacam12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00577:Ceacam12 APN 7 18067261 missense probably damaging 1.00
IGL01483:Ceacam12 APN 7 18067521 missense probably benign 0.07
IGL01505:Ceacam12 APN 7 18067432 missense probably damaging 0.98
IGL01540:Ceacam12 APN 7 18071802 intron probably benign
R0033:Ceacam12 UTSW 7 18069460 splice site probably benign
R0033:Ceacam12 UTSW 7 18069460 splice site probably benign
R1816:Ceacam12 UTSW 7 18071765 synonymous probably null
R4227:Ceacam12 UTSW 7 18071753 missense probably benign 0.01
R4382:Ceacam12 UTSW 7 18066034 start gained probably benign
R4541:Ceacam12 UTSW 7 18071723 missense probably benign
R4651:Ceacam12 UTSW 7 18067434 missense probably damaging 1.00
R4652:Ceacam12 UTSW 7 18067434 missense probably damaging 1.00
R4831:Ceacam12 UTSW 7 18077380 splice site probably null
R5351:Ceacam12 UTSW 7 18067234 missense probably damaging 1.00
R5357:Ceacam12 UTSW 7 18077459 nonsense probably null
R5779:Ceacam12 UTSW 7 18069154 missense probably benign 0.29
R5893:Ceacam12 UTSW 7 18069374 missense probably damaging 1.00
R5946:Ceacam12 UTSW 7 18069206 missense probably damaging 1.00
R6151:Ceacam12 UTSW 7 18069105 missense probably benign 0.01
R6175:Ceacam12 UTSW 7 18067387 missense probably damaging 1.00
R6346:Ceacam12 UTSW 7 18069401 missense probably damaging 0.99
R6591:Ceacam12 UTSW 7 18069224 missense possibly damaging 0.53
R6691:Ceacam12 UTSW 7 18069224 missense possibly damaging 0.53
Predicted Primers PCR Primer
(F):5'- TGATGGACACAGCTGCTAAG -3'
(R):5'- GGCAGATTCTGACATCAAATCC -3'

Sequencing Primer
(F):5'- TGCTAAGAACACAGAGACCCTTCTTC -3'
(R):5'- TCAAATCCACAGGTATGGTTCGTAGG -3'
Posted On2018-06-06