Incidental Mutation 'R1452:Or4c3d'
ID 161051
Institutional Source Beutler Lab
Gene Symbol Or4c3d
Ensembl Gene ENSMUSG00000075068
Gene Name olfactory receptor family 4 subfamily C member 3D
Synonyms Olfr140, MOR235-1, GA_x6K02T2Q125-51484508-51483600, A16
MMRRC Submission 039507-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.112) question?
Stock # R1452 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 89881758-89882666 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 89882015 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 218 (V218I)
Ref Sequence ENSEMBL: ENSMUSP00000150438 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099757] [ENSMUST00000111506] [ENSMUST00000216475]
AlphaFold Q60878
Predicted Effect possibly damaging
Transcript: ENSMUST00000099757
AA Change: V218I

PolyPhen 2 Score 0.677 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000097346
Gene: ENSMUSG00000075068
AA Change: V218I

DomainStartEndE-ValueType
Pfam:7tm_1 39 285 1.3e-30 PFAM
Pfam:7tm_4 137 278 7e-42 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000111506
AA Change: V218I

PolyPhen 2 Score 0.677 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000107131
Gene: ENSMUSG00000075068
AA Change: V218I

DomainStartEndE-ValueType
Pfam:7tm_4 29 302 2.9e-48 PFAM
Pfam:7tm_1 39 285 9.9e-20 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000216475
AA Change: V218I

PolyPhen 2 Score 0.677 (Sensitivity: 0.86; Specificity: 0.92)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.8%
  • 20x: 87.5%
Validation Efficiency 99% (70/71)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,655,015 (GRCm39) I1446M probably benign Het
Acaca T A 11: 84,185,885 (GRCm39) probably benign Het
Adgre4 A T 17: 56,091,996 (GRCm39) E85D probably benign Het
Akt3 A T 1: 176,958,633 (GRCm39) Y26N possibly damaging Het
Arl15 T C 13: 114,104,319 (GRCm39) V132A probably benign Het
Atp6v1h A G 1: 5,168,360 (GRCm39) probably benign Het
Atrip T A 9: 108,901,727 (GRCm39) D110V probably damaging Het
Bahcc1 T G 11: 120,173,065 (GRCm39) probably benign Het
Cd53 C T 3: 106,676,275 (GRCm39) G31S probably damaging Het
Cdk14 T C 5: 4,938,927 (GRCm39) S404G possibly damaging Het
Cers3 A T 7: 66,433,152 (GRCm39) K156N probably damaging Het
Colgalt2 C A 1: 152,379,904 (GRCm39) L448M probably damaging Het
Cox15 G T 19: 43,735,344 (GRCm39) T141K probably damaging Het
Csnk2a2 C T 8: 96,184,003 (GRCm39) probably benign Het
Cyp2b10 A T 7: 25,624,813 (GRCm39) probably benign Het
Cyp2c55 A G 19: 38,999,534 (GRCm39) Y80C probably damaging Het
Depdc1a A G 3: 159,232,328 (GRCm39) Y693C possibly damaging Het
Des T C 1: 75,340,121 (GRCm39) S343P probably damaging Het
Dync1i2 T C 2: 71,080,207 (GRCm39) probably benign Het
Eif3m T A 2: 104,837,122 (GRCm39) Q199L probably damaging Het
Emsy G T 7: 98,249,881 (GRCm39) T802K probably damaging Het
Endov A G 11: 119,382,651 (GRCm39) T33A probably damaging Het
Epb41l5 G A 1: 119,476,896 (GRCm39) T728I probably damaging Het
Fbxo39 A G 11: 72,209,228 (GRCm39) I363V probably benign Het
Gm8674 C T 13: 50,054,553 (GRCm39) noncoding transcript Het
Il6st T A 13: 112,617,998 (GRCm39) N137K possibly damaging Het
Inf2 A G 12: 112,567,778 (GRCm39) N136S probably damaging Het
Iqub A T 6: 24,491,558 (GRCm39) I376N probably benign Het
Kansl3 A G 1: 36,393,874 (GRCm39) probably benign Het
Kbtbd2 A T 6: 56,758,909 (GRCm39) H71Q probably damaging Het
Lgals8 G T 13: 12,468,208 (GRCm39) Y140* probably null Het
Mab21l4 T C 1: 93,080,661 (GRCm39) Y415C probably damaging Het
Macf1 T A 4: 123,387,791 (GRCm39) I924L probably benign Het
Mcoln2 A T 3: 145,887,569 (GRCm39) T329S possibly damaging Het
Mex3d A T 10: 80,217,354 (GRCm39) L621Q probably damaging Het
Mmut A G 17: 41,248,359 (GRCm39) probably benign Het
Ncor1 T C 11: 62,225,457 (GRCm39) H1038R probably damaging Het
Neb A G 2: 52,161,309 (GRCm39) probably null Het
Ngrn A G 7: 79,914,520 (GRCm39) T224A probably benign Het
Nin G A 12: 70,064,424 (GRCm39) R2019* probably null Het
Nphp4 C G 4: 152,631,475 (GRCm39) Q792E probably damaging Het
Or13e8 C T 4: 43,696,823 (GRCm39) V117M probably benign Het
Or2z9 C T 8: 72,854,020 (GRCm39) Q139* probably null Het
Or5d38 C T 2: 87,954,655 (GRCm39) V225I probably benign Het
Or8k3 T A 2: 86,058,799 (GRCm39) N172I probably damaging Het
Pde4dip C A 3: 97,631,418 (GRCm39) V1164L probably damaging Het
Plppr1 A G 4: 49,301,067 (GRCm39) probably benign Het
Pole2 G A 12: 69,254,703 (GRCm39) L381F probably benign Het
Ppp2r5e A G 12: 75,516,310 (GRCm39) probably benign Het
Prim2 T A 1: 33,669,485 (GRCm39) E163D probably benign Het
Prrc2b A T 2: 32,084,997 (GRCm39) D296V probably damaging Het
Pter A G 2: 12,983,432 (GRCm39) probably benign Het
Resf1 A T 6: 149,228,130 (GRCm39) K392I probably damaging Het
Robo2 C A 16: 73,758,798 (GRCm39) V662L probably damaging Het
Sirpd G T 3: 15,397,212 (GRCm39) T24K unknown Het
Slco1b2 A T 6: 141,617,926 (GRCm39) I424F probably benign Het
Snx29 A T 16: 11,449,335 (GRCm39) H260L probably damaging Het
Stil A G 4: 114,896,392 (GRCm39) N959S probably benign Het
Taar8c A T 10: 23,977,508 (GRCm39) D101E probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trpc6 G A 9: 8,653,148 (GRCm39) M573I probably damaging Het
Tsr1 A T 11: 74,790,425 (GRCm39) D171V probably benign Het
Ube4b T C 4: 149,455,626 (GRCm39) T348A probably damaging Het
Vmn1r85 A T 7: 12,818,808 (GRCm39) I112N probably damaging Het
Vps36 A G 8: 22,708,226 (GRCm39) probably null Het
Wdfy3 G A 5: 102,085,604 (GRCm39) A630V possibly damaging Het
Wdsub1 A T 2: 59,707,144 (GRCm39) D14E probably null Het
Ylpm1 T C 12: 85,077,157 (GRCm39) I1294T possibly damaging Het
Zdhhc17 A G 10: 110,790,936 (GRCm39) F378L probably benign Het
Other mutations in Or4c3d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02220:Or4c3d APN 2 89,882,038 (GRCm39) missense probably damaging 1.00
IGL02631:Or4c3d APN 2 89,881,786 (GRCm39) missense probably damaging 0.97
IGL03354:Or4c3d APN 2 89,881,911 (GRCm39) missense probably damaging 1.00
3-1:Or4c3d UTSW 2 89,882,496 (GRCm39) missense possibly damaging 0.48
R0673:Or4c3d UTSW 2 89,882,596 (GRCm39) missense probably benign 0.04
R1355:Or4c3d UTSW 2 89,881,957 (GRCm39) missense probably benign 0.29
R1719:Or4c3d UTSW 2 89,882,128 (GRCm39) missense probably damaging 1.00
R2230:Or4c3d UTSW 2 89,882,569 (GRCm39) missense probably benign
R2231:Or4c3d UTSW 2 89,882,569 (GRCm39) missense probably benign
R2232:Or4c3d UTSW 2 89,882,569 (GRCm39) missense probably benign
R4540:Or4c3d UTSW 2 89,882,494 (GRCm39) missense probably damaging 1.00
R4710:Or4c3d UTSW 2 89,882,494 (GRCm39) missense probably damaging 1.00
R5304:Or4c3d UTSW 2 89,882,257 (GRCm39) missense probably benign 0.29
R5599:Or4c3d UTSW 2 89,882,563 (GRCm39) missense probably benign 0.00
R7309:Or4c3d UTSW 2 89,881,801 (GRCm39) missense probably damaging 1.00
R7361:Or4c3d UTSW 2 89,882,089 (GRCm39) missense probably benign 0.01
R8314:Or4c3d UTSW 2 89,882,441 (GRCm39) missense probably benign 0.00
R8922:Or4c3d UTSW 2 89,882,695 (GRCm39) start gained probably benign
Z1176:Or4c3d UTSW 2 89,882,609 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CCCCAACTGGAACTTGTATCGTCC -3'
(R):5'- TGGCATCCTGCATTCAACAGCTC -3'

Sequencing Primer
(F):5'- GCATTTCTCAGAGTATAAATCAGGGG -3'
(R):5'- TGCATTCAACAGCTCAGCTC -3'
Posted On 2014-03-14