Incidental Mutation 'R7523:Or2c1'
ID 582800
Institutional Source Beutler Lab
Gene Symbol Or2c1
Ensembl Gene ENSMUSG00000059043
Gene Name olfactory receptor family 2 subfamily C member 1
Synonyms GA_x54KRFPKG5P-348087-349025, Olfr15, MOR256-17, OR3
MMRRC Submission 045595-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.159) question?
Stock # R7523 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 3656839-3657777 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3657563 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 242 (V242A)
Ref Sequence ENSEMBL: ENSMUSP00000149504 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080917] [ENSMUST00000214238] [ENSMUST00000214590]
AlphaFold P23275
Predicted Effect probably benign
Transcript: ENSMUST00000080917
AA Change: V242A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000079720
Gene: ENSMUSG00000059043
AA Change: V242A

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srv 25 301 2.7e-8 PFAM
Pfam:7tm_4 31 307 1.3e-52 PFAM
Pfam:7tm_1 41 290 9.8e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214238
AA Change: V242A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000214590
AA Change: V242A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (46/46)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T A 2: 68,492,824 (GRCm39) H40Q unknown Het
4932414N04Rik A T 2: 68,569,673 (GRCm39) Q463L probably benign Het
Ano4 C A 10: 88,807,257 (GRCm39) E775* probably null Het
Atp12a T C 14: 56,603,425 (GRCm39) V10A possibly damaging Het
Camkmt A G 17: 85,699,056 (GRCm39) I144M probably benign Het
Ciao2b G A 8: 105,368,404 (GRCm39) probably benign Het
Cyth1 TGGGCAA T 11: 118,074,749 (GRCm39) probably null Het
Dazl G A 17: 50,594,569 (GRCm39) T162I probably damaging Het
Dnah10 A G 5: 124,824,803 (GRCm39) K653R probably damaging Het
Exosc10 A T 4: 148,648,299 (GRCm39) probably null Het
Fbn2 T C 18: 58,199,152 (GRCm39) D1372G probably benign Het
Fxr1 T C 3: 34,093,692 (GRCm39) V23A probably benign Het
Gmps T C 3: 63,919,087 (GRCm39) I557T possibly damaging Het
Ifnab A T 4: 88,609,029 (GRCm39) Y146N probably damaging Het
Krt78 T C 15: 101,855,036 (GRCm39) Y925C not run Het
Lrp1b C T 2: 41,401,473 (GRCm39) V394M Het
Ltbp2 T C 12: 84,837,808 (GRCm39) T1211A probably benign Het
Man2a2 G C 7: 80,018,613 (GRCm39) A82G probably benign Het
Mdn1 A T 4: 32,667,270 (GRCm39) probably null Het
Myo15b A T 11: 115,781,684 (GRCm39) I2798F unknown Het
Nat3 T C 8: 68,000,226 (GRCm39) I35T probably damaging Het
Nectin2 A G 7: 19,464,037 (GRCm39) V314A probably benign Het
Nexn T C 3: 151,952,815 (GRCm39) R316G probably benign Het
Nfx1 A G 4: 41,016,119 (GRCm39) I894V probably benign Het
Or8j3 T C 2: 86,028,389 (GRCm39) K236E probably damaging Het
Pdcd4 G T 19: 53,899,379 (GRCm39) V123F probably damaging Het
Pik3c3 C T 18: 30,426,708 (GRCm39) R275W probably damaging Het
Ppt2 A G 17: 34,845,777 (GRCm39) probably null Het
Prss35 T A 9: 86,637,427 (GRCm39) C66S probably damaging Het
Ptbp3 A G 4: 59,546,159 (GRCm39) V11A probably benign Het
Ptpn22 A G 3: 103,819,331 (GRCm39) N795S probably damaging Het
Ptprg T G 14: 12,237,130 (GRCm38) I1383S probably damaging Het
Rtel1 G A 2: 180,964,108 (GRCm39) V36M probably damaging Het
Sf3b3 A G 8: 111,540,352 (GRCm39) I1023T probably benign Het
Slc44a2 A G 9: 21,257,288 (GRCm39) E411G probably null Het
Stard9 T C 2: 120,530,078 (GRCm39) Y2112H probably benign Het
Tada2b T C 5: 36,634,111 (GRCm39) I156V probably benign Het
Tenm2 A T 11: 35,969,408 (GRCm39) probably null Het
Tle1 A T 4: 72,063,655 (GRCm39) S199R possibly damaging Het
Tubgcp2 A G 7: 139,586,783 (GRCm39) I399T probably benign Het
Ubr5 T C 15: 38,004,299 (GRCm39) N1344S Het
Vmn2r114 A G 17: 23,529,611 (GRCm39) F164L probably benign Het
Vps13a G T 19: 16,681,153 (GRCm39) T1041K probably benign Het
Zbtb20 T C 16: 43,430,875 (GRCm39) V389A probably benign Het
Zfp811 A T 17: 33,016,726 (GRCm39) I438N probably benign Het
Zfp90 A G 8: 107,150,545 (GRCm39) D86G probably benign Het
Other mutations in Or2c1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01973:Or2c1 APN 16 3,657,641 (GRCm39) missense probably damaging 0.99
IGL02444:Or2c1 APN 16 3,657,551 (GRCm39) missense probably damaging 1.00
IGL02516:Or2c1 APN 16 3,657,200 (GRCm39) missense probably damaging 1.00
IGL02941:Or2c1 APN 16 3,657,680 (GRCm39) missense possibly damaging 0.64
PIT4812001:Or2c1 UTSW 16 3,657,394 (GRCm39) nonsense probably null
R0380:Or2c1 UTSW 16 3,656,849 (GRCm39) missense probably benign
R1542:Or2c1 UTSW 16 3,657,696 (GRCm39) missense probably damaging 1.00
R1574:Or2c1 UTSW 16 3,657,521 (GRCm39) missense probably damaging 0.99
R1574:Or2c1 UTSW 16 3,657,521 (GRCm39) missense probably damaging 0.99
R1633:Or2c1 UTSW 16 3,657,396 (GRCm39) missense probably damaging 1.00
R4207:Or2c1 UTSW 16 3,657,434 (GRCm39) missense probably damaging 1.00
R4632:Or2c1 UTSW 16 3,656,951 (GRCm39) missense probably damaging 1.00
R4965:Or2c1 UTSW 16 3,657,434 (GRCm39) missense probably damaging 1.00
R5014:Or2c1 UTSW 16 3,656,912 (GRCm39) missense probably benign 0.01
R6575:Or2c1 UTSW 16 3,656,894 (GRCm39) missense probably benign 0.00
R7367:Or2c1 UTSW 16 3,657,166 (GRCm39) missense probably damaging 0.99
R7697:Or2c1 UTSW 16 3,657,430 (GRCm39) missense probably damaging 0.96
R7876:Or2c1 UTSW 16 3,656,658 (GRCm39) splice site probably null
R9536:Or2c1 UTSW 16 3,657,438 (GRCm39) missense possibly damaging 0.81
Predicted Primers PCR Primer
(F):5'- GCCATGATTAAATTGGCCTGTGG -3'
(R):5'- GACGATTGTGCTGTCCTCAG -3'

Sequencing Primer
(F):5'- TTCACTGTGGTCCCAGTA -3'
(R):5'- AGCAATCTTCCCAGGGCC -3'
Posted On 2019-10-17