Incidental Mutation 'R5717:Or4c29'
ID 451202
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 043337-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R5717 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 88739803-88740735 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88740366 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 124 (I124V)
Ref Sequence ENSEMBL: ENSMUSP00000150607 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099809] [ENSMUST00000213136]
AlphaFold Q3SXJ3
Predicted Effect possibly damaging
Transcript: ENSMUST00000099809
AA Change: I124V

PolyPhen 2 Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000097397
Gene: ENSMUSG00000075113
AA Change: I124V

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 possibly damaging
Transcript: ENSMUST00000213136
AA Change: I124V

PolyPhen 2 Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213240
Meta Mutation Damage Score 0.3022 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 98% (48/49)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933411K16Rik A T 19: 42,041,484 (GRCm39) H205L probably benign Het
Acss2 T C 2: 155,403,073 (GRCm39) L617S probably damaging Het
Adgrl4 T C 3: 151,197,971 (GRCm39) V77A probably benign Het
Adnp2 A G 18: 80,171,479 (GRCm39) S977P probably benign Het
Ankrd11 T C 8: 123,619,377 (GRCm39) K1492E possibly damaging Het
B4galt5 G A 2: 167,148,549 (GRCm39) R190C probably damaging Het
Bbs1 A G 19: 4,947,354 (GRCm39) V355A possibly damaging Het
Cenpj GTTTT GTTTTT 14: 56,790,978 (GRCm39) probably null Het
Ckap2 T C 8: 22,665,063 (GRCm39) E467G probably damaging Het
Cry1 A T 10: 84,982,280 (GRCm39) H355Q probably damaging Het
Cspg4 G T 9: 56,793,082 (GRCm39) M272I probably benign Het
Dicer1 T A 12: 104,671,387 (GRCm39) Y961F probably damaging Het
Epha2 A T 4: 141,049,382 (GRCm39) M689L probably benign Het
Foxc1 C T 13: 31,991,471 (GRCm39) A94V probably benign Het
Fras1 T C 5: 96,929,596 (GRCm39) V4000A possibly damaging Het
Frmd8 G T 19: 5,923,396 (GRCm39) probably benign Het
Gm5218 A G 15: 81,383,478 (GRCm39) noncoding transcript Het
Gm7735 T C 16: 88,966,430 (GRCm39) L18P unknown Het
Hr C T 14: 70,803,616 (GRCm39) T808I probably benign Het
Hyal6 T C 6: 24,743,690 (GRCm39) M462T probably benign Het
Igkv6-20 T A 6: 70,313,412 (GRCm39) probably benign Het
Igkv8-27 T A 6: 70,148,918 (GRCm39) T59S probably benign Het
Itga11 A G 9: 62,659,531 (GRCm39) T428A probably benign Het
Klk1b16 A G 7: 43,788,913 (GRCm39) I49V probably benign Het
Matn2 G T 15: 34,399,237 (GRCm39) E375* probably null Het
Msgn1 T C 12: 11,258,519 (GRCm39) Y144C probably damaging Het
Myh1 A G 11: 67,099,782 (GRCm39) N564S probably benign Het
Mypn A G 10: 62,963,555 (GRCm39) V972A probably damaging Het
Or5an11 A G 19: 12,246,520 (GRCm39) K309E probably benign Het
Or8s5 G A 15: 98,238,246 (GRCm39) A208V probably benign Het
Ppp2r5d A G 17: 46,998,820 (GRCm39) S81P probably damaging Het
Ptgis C T 2: 167,050,284 (GRCm39) probably benign Het
Ptprr A G 10: 115,884,018 (GRCm39) N25S probably benign Het
Rnf123 G A 9: 107,944,623 (GRCm39) T456I probably damaging Het
Rpl6l T C 10: 110,961,884 (GRCm39) noncoding transcript Het
Rps25 A G 9: 44,320,047 (GRCm39) Y23C probably benign Het
Sec24a A G 11: 51,598,037 (GRCm39) V879A probably benign Het
Sema6a G A 18: 47,382,330 (GRCm39) A739V probably benign Het
Senp6 A T 9: 79,999,594 (GRCm39) I4F probably damaging Het
Slc49a4 A G 16: 35,539,799 (GRCm39) F341L probably benign Het
Stoml3 A T 3: 53,412,937 (GRCm39) Q197L probably damaging Het
Ttn T A 2: 76,578,091 (GRCm39) K24267N probably damaging Het
Vmn1r43 T C 6: 89,846,905 (GRCm39) S194G probably damaging Het
Vmn2r17 C T 5: 109,575,140 (GRCm39) T149I possibly damaging Het
Wdr72 T A 9: 74,055,487 (GRCm39) Y239N probably damaging Het
Zfp423 A T 8: 88,413,187 (GRCm39) probably null Het
Zfp759 T A 13: 67,286,772 (GRCm39) C114S probably 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
R2311:Or4c29 UTSW 2 88,739,813 (GRCm39) missense probably benign 0.00
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
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'- AGGCAAGCTTCAATAGTGGC -3'
(R):5'- GGGAGTCCCATGTACTTCTTC -3'

Sequencing Primer
(F):5'- CAAGCTTCAATAGTGGCTGCAAGTC -3'
(R):5'- ACTTATCCTTGTCTGACACCTG -3'
Posted On 2017-01-03