Incidental Mutation 'R2311:Or4c29'
ID 245329
Institutional Source Beutler Lab
Gene Symbol Or4c29
Ensembl Gene ENSMUSG00000075113
Gene Name olfactory receptor family 4 subfamily C member 29
Synonyms Olfr1209, MOR230-7, GA_x6K02T2Q125-50386882-50385950
MMRRC Submission 040310-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R2311 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 88739803-88740735 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 88739813 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 308 (D308V)
Ref Sequence ENSEMBL: ENSMUSP00000150607 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099809] [ENSMUST00000213136]
AlphaFold Q3SXJ3
Predicted Effect probably benign
Transcript: ENSMUST00000099809
AA Change: D308V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000097397
Gene: ENSMUSG00000075113
AA Change: D308V

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 2.2e-48 PFAM
Pfam:7TM_GPCR_Srsx 32 300 1.3e-5 PFAM
Pfam:7tm_1 39 285 7.6e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213136
AA Change: D308V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213240
Meta Mutation Damage Score 0.1093 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency 100% (41/41)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apol7e G A 15: 77,602,236 (GRCm39) R278H probably benign Het
Arhgef17 A G 7: 100,578,111 (GRCm39) S946P probably benign Het
Capsl A T 15: 9,462,689 (GRCm39) R110* probably null Het
Ddx41 G A 13: 55,682,293 (GRCm39) R205W possibly damaging Het
Dock8 T A 19: 25,160,368 (GRCm39) I1757N possibly damaging Het
Dthd1 T C 5: 62,996,580 (GRCm39) probably benign Het
Eif5a2 A G 3: 28,836,325 (GRCm39) E42G possibly damaging Het
Elovl3 A G 19: 46,121,639 (GRCm39) S61G probably benign Het
Elp4 T C 2: 105,672,677 (GRCm39) N136S probably benign Het
Elp6 A G 9: 110,149,886 (GRCm39) S223G probably benign Het
Eml1 T A 12: 108,503,675 (GRCm39) D743E probably damaging Het
Ezh2 T C 6: 47,535,194 (GRCm39) Q85R probably damaging Het
Fermt3 C A 19: 6,991,530 (GRCm39) C194F probably damaging Het
Flg A G 3: 93,200,260 (GRCm39) probably benign Het
Gfi1b C T 2: 28,500,186 (GRCm39) G282R probably damaging Het
Gpr176 A T 2: 118,109,927 (GRCm39) I444K probably benign Het
Gvin-ps3 T C 7: 105,682,797 (GRCm39) K153E probably damaging Het
Gys2 A T 6: 142,408,970 (GRCm39) M95K possibly damaging Het
Hgs C T 11: 120,370,474 (GRCm39) R167W probably damaging Het
Map3k20 T C 2: 72,198,784 (GRCm39) I130T probably damaging Het
Nckap5 A T 1: 126,456,489 (GRCm39) Y25N probably damaging Het
Npc1 C T 18: 12,335,240 (GRCm39) V629I probably benign Het
Nrl C A 14: 55,759,909 (GRCm39) S6I probably damaging Het
Or10am5 A T 7: 6,517,741 (GRCm39) M229K probably benign Het
Or5d37 T C 2: 87,924,178 (GRCm39) N34S probably benign Het
Oxct2b T C 4: 123,011,211 (GRCm39) F377S probably damaging Het
Plb1 T C 5: 32,427,162 (GRCm39) S91P probably benign Het
Plxna2 C T 1: 194,431,625 (GRCm39) S538F probably damaging Het
Postn A T 3: 54,292,644 (GRCm39) Y737F probably damaging Het
Serpina1e T A 12: 103,917,388 (GRCm39) I94F possibly damaging Het
Serpine2 A G 1: 79,788,265 (GRCm39) probably benign Het
Stox2 T C 8: 47,645,013 (GRCm39) R816G probably damaging Het
Tep1 T C 14: 51,071,024 (GRCm39) N2092D possibly damaging Het
Tmem186 A G 16: 8,453,748 (GRCm39) V171A probably benign Het
Trim58 G A 11: 58,533,934 (GRCm39) V163M probably benign Het
Trim59 G T 3: 68,945,162 (GRCm39) C59* probably null Het
Ulk1 C T 5: 110,937,223 (GRCm39) R691Q probably benign Het
Vill A G 9: 118,894,965 (GRCm39) N61S probably benign Het
Zer1 C T 2: 29,991,834 (GRCm39) R662H probably damaging Het
Zfp644 A C 5: 106,782,822 (GRCm39) V1184G probably benign Het
Zfp974 A G 7: 27,609,866 (GRCm39) S620P possibly damaging Het
Other mutations in Or4c29
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03103:Or4c29 APN 2 88,740,522 (GRCm39) missense probably benign 0.18
R0179:Or4c29 UTSW 2 88,740,237 (GRCm39) missense possibly damaging 0.62
R0245:Or4c29 UTSW 2 88,740,219 (GRCm39) missense possibly damaging 0.72
R0737:Or4c29 UTSW 2 88,740,617 (GRCm39) missense probably damaging 1.00
R2168:Or4c29 UTSW 2 88,740,522 (GRCm39) missense probably damaging 0.99
R3429:Or4c29 UTSW 2 88,739,810 (GRCm39) missense probably benign
R3430:Or4c29 UTSW 2 88,739,810 (GRCm39) missense probably benign
R3876:Or4c29 UTSW 2 88,739,952 (GRCm39) missense possibly damaging 0.96
R5717:Or4c29 UTSW 2 88,740,366 (GRCm39) missense possibly damaging 0.57
R6029:Or4c29 UTSW 2 88,740,380 (GRCm39) missense probably damaging 1.00
R6154:Or4c29 UTSW 2 88,740,734 (GRCm39) start codon destroyed probably null 1.00
R7188:Or4c29 UTSW 2 88,740,203 (GRCm39) missense probably damaging 1.00
R7197:Or4c29 UTSW 2 88,740,708 (GRCm39) missense probably benign 0.01
R7744:Or4c29 UTSW 2 88,740,003 (GRCm39) missense possibly damaging 0.45
R8913:Or4c29 UTSW 2 88,739,991 (GRCm39) missense probably benign 0.24
R9017:Or4c29 UTSW 2 88,739,951 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CAATGACAGCCACAATTGGTG -3'
(R):5'- GCATCTTTATATACACACGCCC -3'

Sequencing Primer
(F):5'- GAAGGGTCTTTGTACCTAATTGTAC -3'
(R):5'- GCCCTGCAACAACATTTCCTATGG -3'
Posted On 2014-10-30