Incidental Mutation 'R2168:Or4c29'
ID 235591
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 040171-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R2168 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 88739803-88740735 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 88740522 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 72 (S72P)
Ref Sequence ENSEMBL: ENSMUSP00000150607 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099809] [ENSMUST00000213136]
AlphaFold Q3SXJ3
Predicted Effect probably damaging
Transcript: ENSMUST00000099809
AA Change: S72P

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000097397
Gene: ENSMUSG00000075113
AA Change: S72P

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 damaging
Transcript: ENSMUST00000213136
AA Change: S72P

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213240
Meta Mutation Damage Score 0.2854 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (62/62)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acoxl T A 2: 127,720,701 (GRCm39) I188N probably damaging Het
Akr1c14 T C 13: 4,131,106 (GRCm39) V266A probably damaging Het
Als2cl C A 9: 110,717,810 (GRCm39) P301H probably damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Catspere2 C T 1: 177,843,477 (GRCm39) probably benign Het
Cpsf1 A T 15: 76,487,937 (GRCm39) N53K possibly damaging Het
Ctsll3 C T 13: 60,948,749 (GRCm39) G69R possibly damaging Het
F2 C T 2: 91,458,693 (GRCm39) R539Q probably damaging Het
Fam78b G A 1: 166,906,219 (GRCm39) G126D probably damaging Het
Fancd2 A G 6: 113,568,120 (GRCm39) I1332V possibly damaging Het
Flg2 C T 3: 93,109,244 (GRCm39) S424L probably damaging Het
Fpr1 T C 17: 18,097,471 (GRCm39) T173A possibly damaging Het
Gas2l3 A G 10: 89,249,960 (GRCm39) V386A probably benign Het
Gdap2 A C 3: 100,095,199 (GRCm39) E269A probably benign Het
Igf2bp2 T A 16: 21,898,358 (GRCm39) probably null Het
Ipo11 T C 13: 107,016,118 (GRCm39) probably null Het
Itpr2 G T 6: 146,013,176 (GRCm39) P2667Q probably benign Het
Itsn2 G T 12: 4,683,044 (GRCm39) probably benign Het
Jakmip2 A G 18: 43,698,995 (GRCm39) L488P probably damaging Het
Lrp1b A T 2: 41,265,858 (GRCm39) C248S probably damaging Het
Lrrc17 A T 5: 21,780,046 (GRCm39) D340V probably damaging Het
Megf9 T C 4: 70,351,679 (GRCm39) T481A probably damaging Het
Mrc1 T C 2: 14,249,015 (GRCm39) S184P possibly damaging Het
Msh4 A T 3: 153,573,472 (GRCm39) Y533* probably null Het
Mug1 A G 6: 121,847,458 (GRCm39) N612S probably benign Het
Nectin2 G T 7: 19,464,539 (GRCm39) S288R probably damaging Het
Neurog2 A T 3: 127,427,754 (GRCm39) H126L probably damaging Het
Nol10 A T 12: 17,423,585 (GRCm39) E310V probably damaging Het
Or1f12 T G 13: 21,721,422 (GRCm39) K251T probably damaging Het
Or51h7 A T 7: 102,591,678 (GRCm39) F35L probably benign Het
Or5h23 T A 16: 58,905,949 (GRCm39) K299I probably benign Het
Pappa A C 4: 65,074,682 (GRCm39) D412A probably damaging Het
Pcdhb7 T A 18: 37,476,335 (GRCm39) F490L probably benign Het
Pcsk1 T A 13: 75,260,653 (GRCm39) probably benign Het
Plekhn1 T A 4: 156,306,339 (GRCm39) D577V probably damaging Het
Prrc2c C A 1: 162,537,903 (GRCm39) probably benign Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Pzp G A 6: 128,465,010 (GRCm39) T1288M probably damaging Het
Radil A C 5: 142,492,718 (GRCm39) H63Q probably benign Het
Rai1 T C 11: 60,078,422 (GRCm39) S829P probably benign Het
Rd3 A G 1: 191,715,488 (GRCm39) I88V probably damaging Het
Rfesd T C 13: 76,156,244 (GRCm39) D54G probably damaging Het
Rnf213 A C 11: 119,305,896 (GRCm39) K568T probably damaging Het
Scaper T A 9: 55,650,923 (GRCm39) K913N probably damaging Het
Serpina3c T C 12: 104,115,628 (GRCm39) probably null Het
Serpinb6d A T 13: 33,850,357 (GRCm39) K61N probably benign Het
Skint4 A T 4: 111,944,183 (GRCm39) probably null Het
Sod1 T C 16: 90,017,801 (GRCm39) I19T possibly damaging Het
Stfa3 C A 16: 36,271,042 (GRCm39) G81* probably null Het
Ubr4 A G 4: 139,137,960 (GRCm39) T1106A probably benign Het
Uggt2 T A 14: 119,256,917 (GRCm39) N1106Y probably damaging Het
Vmn1r217 G A 13: 23,298,714 (GRCm39) Q63* probably null Het
Vmn2r129 A T 4: 156,690,673 (GRCm39) noncoding transcript Het
Vps13b C A 15: 35,792,334 (GRCm39) P2201T probably damaging Het
Vps13b C A 15: 35,792,335 (GRCm39) P2201Q probably damaging Het
Vps13d G T 4: 144,813,893 (GRCm39) probably benign Het
Zer1 A G 2: 29,994,887 (GRCm39) C503R probably damaging Het
Zfp369 T C 13: 65,444,762 (GRCm39) V635A probably benign Het
Zfp608 A T 18: 55,031,125 (GRCm39) Y938* probably null 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
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
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'- AGTGCAGGGGCTTACAGATG -3'
(R):5'- TCACTAATGAGAAACAATGTGGCTG -3'

Sequencing Primer
(F):5'- TTACAGATGGCCACATATCGGTC -3'
(R):5'- TGTGGCTGAATAACAATGTGACTG -3'
Posted On 2014-10-01