Incidental Mutation 'R0380:Or2c1'
ID 30948
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 038586-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.159) question?
Stock # R0380 (G1)
Quality Score 222
Status Validated
Chromosome 16
Chromosomal Location 3656839-3657777 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 3656849 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 4 (D4V)
Ref Sequence ENSEMBL: ENSMUSP00000150757 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080917] [ENSMUST00000214238] [ENSMUST00000214590]
AlphaFold P23275
Predicted Effect probably benign
Transcript: ENSMUST00000080917
AA Change: D4V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000079720
Gene: ENSMUSG00000059043
AA Change: D4V

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: D4V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000214590
AA Change: D4V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.5%
Validation Efficiency 100% (58/58)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,538,500 (GRCm39) probably null Het
Abca14 A T 7: 119,877,703 (GRCm39) I1073L probably benign Het
Adamts17 C T 7: 66,799,792 (GRCm39) P1116L probably benign Het
Adgrb2 C G 4: 129,901,624 (GRCm39) P416R probably damaging Het
Ano4 A G 10: 88,814,675 (GRCm39) I671T possibly damaging Het
Aoc1l1 A G 6: 48,952,773 (GRCm39) I233V probably benign Het
Ap1g1 A G 8: 110,529,796 (GRCm39) probably benign Het
Arhgap19 A G 19: 41,761,576 (GRCm39) probably benign Het
Arhgap32 C T 9: 32,157,773 (GRCm39) R129W probably damaging Het
Atp10b G T 11: 43,116,424 (GRCm39) A924S probably damaging Het
Ccdc180 T A 4: 45,930,197 (GRCm39) probably null Het
Cckbr A G 7: 105,084,198 (GRCm39) T311A probably benign Het
Cr2 C T 1: 194,839,715 (GRCm39) G947R probably damaging Het
Cyp2g1 T A 7: 26,513,720 (GRCm39) probably benign Het
Dennd1c G A 17: 57,380,822 (GRCm39) A210V probably damaging Het
Dscam A G 16: 96,857,810 (GRCm39) Y67H probably damaging Het
Dsg2 T A 18: 20,715,996 (GRCm39) Y282* probably null Het
Epg5 T C 18: 78,004,056 (GRCm39) L688P probably damaging Het
Esr2 T G 12: 76,170,065 (GRCm39) E458A possibly damaging Het
Fat1 T C 8: 45,463,160 (GRCm39) S1326P probably damaging Het
Flt1 A G 5: 147,525,382 (GRCm39) S919P probably damaging Het
Gpr12 T A 5: 146,520,146 (GRCm39) T259S probably damaging Het
Grm5 T A 7: 87,723,584 (GRCm39) C625S possibly damaging Het
H2-Q1 C T 17: 35,542,054 (GRCm39) H209Y probably damaging Het
Hcfc2 C A 10: 82,564,272 (GRCm39) probably benign Het
Itgal C A 7: 126,909,923 (GRCm39) Y495* probably null Het
Kbtbd3 T A 9: 4,330,545 (GRCm39) Y306* probably null Het
Kcns2 T C 15: 34,839,318 (GRCm39) F227S possibly damaging Het
Kif1a T A 1: 92,983,753 (GRCm39) probably null Het
Maml2 C T 9: 13,532,396 (GRCm39) R537* probably null Het
Muc4 G A 16: 32,574,333 (GRCm39) A928T probably benign Het
Nav3 A G 10: 109,594,740 (GRCm39) probably benign Het
Neb A T 2: 52,122,214 (GRCm39) M605K probably damaging Het
Pcdhb3 T G 18: 37,435,210 (GRCm39) I392S possibly damaging Het
Prune2 A G 19: 17,101,371 (GRCm39) T2292A probably damaging Het
Rbbp8nl A T 2: 179,923,512 (GRCm39) M108K probably damaging Het
Rbm25 A G 12: 83,707,130 (GRCm39) T259A probably benign Het
Recql C A 6: 142,315,156 (GRCm39) R243L probably damaging Het
Rsf1 TGGCG TGGCGACGGCGGCG 7: 97,229,112 (GRCm39) probably benign Het
Serpinb12 T C 1: 106,878,551 (GRCm39) probably null Het
Slc16a14 T A 1: 84,907,251 (GRCm39) I8F possibly damaging Het
Spef1 G T 2: 131,014,332 (GRCm39) probably benign Het
Tas2r103 A G 6: 133,013,166 (GRCm39) L300P probably damaging Het
Tas2r117 A T 6: 132,780,551 (GRCm39) R230* probably null Het
Tcam1 G A 11: 106,174,904 (GRCm39) E120K probably benign Het
Thnsl2 A T 6: 71,118,314 (GRCm39) L38Q probably damaging Het
Tmem171 G T 13: 98,828,535 (GRCm39) T205K possibly damaging Het
Tmem232 A T 17: 65,563,443 (GRCm39) L650Q probably benign Het
Tpr T A 1: 150,288,698 (GRCm39) D518E probably benign Het
Tsen54 T C 11: 115,713,423 (GRCm39) V442A probably damaging Het
Tshz3 A T 7: 36,470,725 (GRCm39) I905F probably damaging Het
Vmn1r66 C T 7: 10,008,670 (GRCm39) C121Y probably benign Het
Wdfy3 T C 5: 102,096,832 (GRCm39) Q322R probably damaging Het
Wdr64 T C 1: 175,597,208 (GRCm39) 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
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
R7523:Or2c1 UTSW 16 3,657,563 (GRCm39) missense probably benign
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'- TGCTAGGTCCCTTTTGACATCCCAG -3'
(R):5'- ACGAGCAGTATGCACTCAGTAGCC -3'

Sequencing Primer
(F):5'- TTGACATCCCAGCTCAACTG -3'
(R):5'- TTTCAGCATCTGAGGGACTGAAC -3'
Posted On 2013-04-24