Incidental Mutation 'R3808:Or4c112'
ID 275019
Institutional Source Beutler Lab
Gene Symbol Or4c112
Ensembl Gene ENSMUSG00000101391
Gene Name olfactory receptor family 4 subfamily C member 112
Synonyms GA_x6K02T2Q125-50504545-50503631, MOR233-4, Olfr1217
MMRRC Submission 040765-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R3808 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 88853339-88854443 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 88853770 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 192 (H192Q)
Ref Sequence ENSEMBL: ENSMUSP00000149931 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099799] [ENSMUST00000213669] [ENSMUST00000214022] [ENSMUST00000216592]
AlphaFold Q8VGG1
Predicted Effect probably benign
Transcript: ENSMUST00000099799
AA Change: H192Q

PolyPhen 2 Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000097387
Gene: ENSMUSG00000101391
AA Change: H192Q

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 5.7e-48 PFAM
Pfam:7tm_1 39 286 6.3e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213669
AA Change: H192Q

PolyPhen 2 Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000214022
AA Change: H192Q

PolyPhen 2 Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000216592
AA Change: H192Q

PolyPhen 2 Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
Meta Mutation Damage Score 0.3954 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.8%
Validation Efficiency
MGI Phenotype FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Aldh3a2 G T 11: 61,149,623 (GRCm39) L248M probably damaging Het
Als2 A G 1: 59,209,609 (GRCm39) S1458P probably benign Het
Aoc1l3 C T 6: 48,964,928 (GRCm39) P312L possibly damaging Het
Arhgap5 A G 12: 52,613,970 (GRCm39) E192G possibly damaging Het
Atg2a A G 19: 6,302,846 (GRCm39) K1019R possibly damaging Het
Atp2b1 A G 10: 98,839,010 (GRCm39) K613E possibly damaging Het
Carm1 T C 9: 21,498,258 (GRCm39) C421R probably damaging Het
Cdh17 A T 4: 11,795,671 (GRCm39) Y417F probably damaging Het
Cers1 A G 8: 70,782,660 (GRCm39) D10G possibly damaging Het
Clptm1l A C 13: 73,760,573 (GRCm39) M319L probably benign Het
Cntnap3 A G 13: 64,929,618 (GRCm39) V527A probably damaging Het
Creb3l2 A G 6: 37,332,625 (GRCm39) S290P probably damaging Het
Dock4 T G 12: 40,722,809 (GRCm39) V305G probably damaging Het
Dtl A C 1: 191,280,466 (GRCm39) L356R probably damaging Het
Eftud2 A T 11: 102,732,289 (GRCm39) probably null Het
Eif2b4 A G 5: 31,348,512 (GRCm39) S88P possibly damaging Het
Fat4 T G 3: 39,036,587 (GRCm39) V3413G possibly damaging Het
Fgfr2 T C 7: 129,801,578 (GRCm39) M218V probably benign Het
Grin2b A G 6: 135,900,269 (GRCm39) L204P probably damaging Het
Kcnj12 A G 11: 60,961,103 (GRCm39) N467S probably benign Het
Klhdc3 T A 17: 46,988,858 (GRCm39) N111Y possibly damaging Het
Lin9 A G 1: 180,486,676 (GRCm39) I81V probably null Het
Lrp2 T C 2: 69,331,892 (GRCm39) D1621G probably damaging Het
Lrp4 T A 2: 91,307,047 (GRCm39) D389E probably damaging Het
Med15 C T 16: 17,473,598 (GRCm39) probably benign Het
Nbea T C 3: 55,625,269 (GRCm39) N2274S probably benign Het
Nr3c2 G A 8: 77,635,343 (GRCm39) G148D probably damaging Het
Or10s1 A T 9: 39,985,605 (GRCm39) M5L probably benign Het
Or14j6 T C 17: 38,214,464 (GRCm39) V9A probably benign Het
Paxip1 A G 5: 27,977,027 (GRCm39) probably benign Het
Pfas T C 11: 68,880,779 (GRCm39) probably benign Het
Plin3 C A 17: 56,593,275 (GRCm39) A96S probably damaging Het
Pnck T A X: 72,700,550 (GRCm39) I288F probably damaging Het
Ppp4c C T 7: 126,386,499 (GRCm39) G166D probably damaging Het
Prss43 A T 9: 110,656,840 (GRCm39) R115S probably damaging Het
Rassf2 T C 2: 131,840,180 (GRCm39) probably null Het
Rdh16f1 T A 10: 127,624,568 (GRCm39) D135E probably benign Het
Rdh16f1 G A 10: 127,624,569 (GRCm39) V136M probably damaging Het
Rgs12 A G 5: 35,189,698 (GRCm39) E702G probably damaging Het
Rnf213 A G 11: 119,370,384 (GRCm39) K4728E probably damaging Het
Ros1 T G 10: 51,996,944 (GRCm39) T1243P probably benign Het
Sall1 G A 8: 89,758,101 (GRCm39) Q668* probably null Het
Sbf2 C A 7: 110,088,487 (GRCm39) *45L probably null Het
Serpina3j A T 12: 104,286,086 (GRCm39) I414F probably benign Het
Sh2d3c T C 2: 32,636,108 (GRCm39) Y159H probably damaging Het
Slamf1 A G 1: 171,625,745 (GRCm39) D307G probably null Het
Slc22a13 T C 9: 119,025,143 (GRCm39) T178A probably benign Het
Smchd1 A T 17: 71,736,536 (GRCm39) L588H probably damaging Het
Trim12a G A 7: 103,956,201 (GRCm39) A113V probably benign Het
Vil1 T C 1: 74,466,772 (GRCm39) V654A probably benign Het
Vmn1r202 T C 13: 22,686,070 (GRCm39) T116A possibly damaging Het
Zfp267 T G 3: 36,219,792 (GRCm39) probably null Het
Zfp607a G A 7: 27,578,826 (GRCm39) R632H probably benign Het
Other mutations in Or4c112
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01071:Or4c112 APN 2 88,853,519 (GRCm39) missense probably benign 0.00
IGL02034:Or4c112 APN 2 88,854,015 (GRCm39) missense probably benign 0.07
IGL03328:Or4c112 APN 2 88,854,199 (GRCm39) nonsense probably null
R0153:Or4c112 UTSW 2 88,853,540 (GRCm39) missense probably benign 0.00
R0414:Or4c112 UTSW 2 88,853,490 (GRCm39) missense probably damaging 1.00
R0544:Or4c112 UTSW 2 88,854,170 (GRCm39) missense probably damaging 1.00
R1994:Or4c112 UTSW 2 88,853,487 (GRCm39) missense probably damaging 1.00
R2217:Or4c112 UTSW 2 88,853,770 (GRCm39) missense probably benign 0.41
R3738:Or4c112 UTSW 2 88,853,954 (GRCm39) missense probably damaging 1.00
R3794:Or4c112 UTSW 2 88,853,770 (GRCm39) missense probably benign 0.41
R3809:Or4c112 UTSW 2 88,853,770 (GRCm39) missense probably benign 0.41
R5252:Or4c112 UTSW 2 88,853,598 (GRCm39) missense probably damaging 0.98
R5448:Or4c112 UTSW 2 88,853,845 (GRCm39) missense probably benign
R7524:Or4c112 UTSW 2 88,854,315 (GRCm39) missense probably benign 0.01
R8031:Or4c112 UTSW 2 88,853,972 (GRCm39) missense probably damaging 1.00
R8911:Or4c112 UTSW 2 88,854,294 (GRCm39) missense probably benign 0.01
R9069:Or4c112 UTSW 2 88,854,308 (GRCm39) missense probably damaging 1.00
R9452:Or4c112 UTSW 2 88,854,234 (GRCm39) missense
R9477:Or4c112 UTSW 2 88,853,615 (GRCm39) missense probably benign 0.00
R9682:Or4c112 UTSW 2 88,854,296 (GRCm39) missense possibly damaging 0.80
Z1176:Or4c112 UTSW 2 88,854,240 (GRCm39) missense probably damaging 1.00
Z1176:Or4c112 UTSW 2 88,854,139 (GRCm39) missense possibly damaging 0.60
Z1177:Or4c112 UTSW 2 88,853,784 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGAATGCAGAAGTAGGTCTTGC -3'
(R):5'- TCTTCCATCATGACCCAGAGG -3'

Sequencing Primer
(F):5'- TGGGCTCTCAGAGAAAAC -3'
(R):5'- ATCATGACCCAGAGGCTCTGTG -3'
Posted On 2015-04-02