Incidental Mutation 'R8280:Or4c122'
ID 638135
Institutional Source Beutler Lab
Gene Symbol Or4c122
Ensembl Gene ENSMUSG00000099486
Gene Name olfactory receptor family 4 subfamily C member 122
Synonyms GA_x6K02T2Q125-50696209-50695274, Olfr1228, MOR233-1
MMRRC Submission 067703-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R8280 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 89079065-89080036 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 89079234 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 268 (I268K)
Ref Sequence ENSEMBL: ENSMUSP00000139920 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000190757]
AlphaFold Q8VGM9
Predicted Effect probably damaging
Transcript: ENSMUST00000190757
AA Change: I268K

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000139920
Gene: ENSMUSG00000099486
AA Change: I268K

DomainStartEndE-ValueType
Pfam:7tm_1 51 298 2.6e-27 PFAM
Pfam:7tm_4 150 292 2.9e-38 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (47/47)
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
4933427D14Rik A G 11: 72,086,667 (GRCm39) V248A possibly damaging Het
Alpk2 A G 18: 65,440,274 (GRCm39) I373T probably benign Het
Anxa1 A T 19: 20,352,650 (GRCm39) M308K possibly damaging Het
Apob T C 12: 8,060,851 (GRCm39) M3111T possibly damaging Het
Cacna1e T C 1: 154,344,839 (GRCm39) D1095G probably damaging Het
Cacna2d3 C T 14: 28,704,328 (GRCm39) V818I probably benign Het
Ces1c T A 8: 93,825,809 (GRCm39) H550L possibly damaging Het
Cluap1 A G 16: 3,729,017 (GRCm39) probably benign Het
Cped1 G T 6: 21,986,820 (GRCm39) R4L unknown Het
Cyb561d1 A G 3: 108,106,532 (GRCm39) I229T probably benign Het
Cyb561d1 A G 3: 108,106,713 (GRCm39) C169R probably damaging Het
Dip2a C T 10: 76,100,610 (GRCm39) V1522M possibly damaging Het
Diras2 A G 13: 52,661,863 (GRCm39) M148T probably benign Het
Dnah5 G T 15: 28,408,538 (GRCm39) A3508S probably benign Het
Fam43b T C 4: 138,123,281 (GRCm39) E13G probably damaging Het
Farsa T G 8: 85,587,808 (GRCm39) I113S probably damaging Het
Fcrl2 G T 3: 87,166,364 (GRCm39) S137* probably null Het
Fer1l4 T C 2: 155,891,620 (GRCm39) D114G probably damaging Het
Gm4181 A T 14: 51,868,015 (GRCm39) *185R probably null Het
Gm5901 G A 7: 105,027,105 (GRCm39) probably null Het
Heatr4 C A 12: 84,016,670 (GRCm39) E532D probably benign Het
Il10 C T 1: 130,947,749 (GRCm39) P34L possibly damaging Het
Irag1 T C 7: 110,522,828 (GRCm39) E205G possibly damaging Het
Lilra6 A G 7: 3,916,046 (GRCm39) L271P probably benign Het
Mlh1 A T 9: 111,078,286 (GRCm39) probably null Het
Naaa T C 5: 92,411,308 (GRCm39) Y293C probably damaging Het
Ndufaf7 G A 17: 79,251,275 (GRCm39) G227R possibly damaging Het
Nmral1 A G 16: 4,531,659 (GRCm39) S199P probably damaging Het
Or1o11 T C 17: 37,756,744 (GRCm39) F100L probably benign Het
Or4k2 A C 14: 50,423,723 (GRCm39) L318* probably null Het
Or4x6 C A 2: 89,949,742 (GRCm39) V67L probably benign Het
Or6b2 T C 1: 92,407,729 (GRCm39) I205V noncoding transcript Het
Or8b52 T A 9: 38,576,783 (GRCm39) Y119F probably damaging Het
Or8g21 C T 9: 38,906,075 (GRCm39) V219I probably benign Het
Paxbp1 G T 16: 90,831,123 (GRCm39) H418N probably benign Het
Prtg A G 9: 72,813,433 (GRCm39) Y931C probably damaging Het
Robo4 T C 9: 37,315,372 (GRCm39) S239P probably benign Het
Rragd A G 4: 32,995,112 (GRCm39) R76G probably benign Het
Samd8 G A 14: 21,830,219 (GRCm39) W278* probably null Het
Slc22a8 T A 19: 8,586,627 (GRCm39) Y379* probably null Het
Taar8c T A 10: 23,976,835 (GRCm39) I326F probably benign Het
Tmem245 A T 4: 56,890,884 (GRCm39) S715T possibly damaging Het
Tnnt3 A G 7: 142,055,359 (GRCm39) I1M unknown Het
Trio A G 15: 27,902,996 (GRCm39) I214T unknown Het
Uqcrfs1 A T 13: 30,729,071 (GRCm39) S54T probably benign Het
Usf3 A G 16: 44,038,864 (GRCm39) T1115A probably benign Het
Zscan4f A T 7: 11,251,599 (GRCm39) I212F probably damaging Het
Other mutations in Or4c122
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01804:Or4c122 APN 2 89,079,566 (GRCm39) missense probably benign 0.00
IGL02588:Or4c122 APN 2 89,080,042 (GRCm39) splice site probably benign
R0384:Or4c122 UTSW 2 89,079,414 (GRCm39) missense possibly damaging 0.82
R0600:Or4c122 UTSW 2 89,079,742 (GRCm39) nonsense probably null
R0613:Or4c122 UTSW 2 89,079,469 (GRCm39) missense probably damaging 1.00
R1564:Or4c122 UTSW 2 89,080,016 (GRCm39) missense probably benign 0.00
R2115:Or4c122 UTSW 2 89,079,874 (GRCm39) missense probably damaging 1.00
R2313:Or4c122 UTSW 2 89,079,285 (GRCm39) missense probably damaging 1.00
R3083:Or4c122 UTSW 2 89,079,345 (GRCm39) missense probably damaging 0.96
R3790:Or4c122 UTSW 2 89,079,337 (GRCm39) missense probably benign 0.02
R3948:Or4c122 UTSW 2 89,079,336 (GRCm39) missense possibly damaging 0.95
R4373:Or4c122 UTSW 2 89,079,589 (GRCm39) missense possibly damaging 0.90
R4376:Or4c122 UTSW 2 89,079,589 (GRCm39) missense possibly damaging 0.90
R4825:Or4c122 UTSW 2 89,079,034 (GRCm39) splice site probably null
R5022:Or4c122 UTSW 2 89,079,761 (GRCm39) missense probably benign 0.00
R5141:Or4c122 UTSW 2 89,079,473 (GRCm39) nonsense probably null
R5313:Or4c122 UTSW 2 89,079,721 (GRCm39) missense probably benign 0.05
R6010:Or4c122 UTSW 2 89,079,087 (GRCm39) missense probably benign 0.00
R7354:Or4c122 UTSW 2 89,079,031 (GRCm39) splice site probably null
R7548:Or4c122 UTSW 2 89,079,430 (GRCm39) missense probably benign 0.09
R8014:Or4c122 UTSW 2 89,079,343 (GRCm39) missense probably damaging 0.98
R8098:Or4c122 UTSW 2 89,079,652 (GRCm39) missense possibly damaging 0.95
R8554:Or4c122 UTSW 2 89,079,595 (GRCm39) missense possibly damaging 0.48
R8678:Or4c122 UTSW 2 89,079,351 (GRCm39) missense probably damaging 1.00
R8725:Or4c122 UTSW 2 89,079,658 (GRCm39) missense probably benign 0.00
R9039:Or4c122 UTSW 2 89,079,545 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- TTTTGGGAAGAGACCTTGGC -3'
(R):5'- GTTTTCTAACAGTGGGTCTATCAG -3'

Sequencing Primer
(F):5'- GCATAACAAATGTTCTTACCCACTGG -3'
(R):5'- CAGTGGGTCTATCAGCATCATAATC -3'
Posted On 2020-07-28