Incidental Mutation 'R5313:Or4c122'
ID 405681
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 042896-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R5313 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 89079065-89080036 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 89079721 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 106 (E106K)
Ref Sequence ENSEMBL: ENSMUSP00000139920 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000190757] [ENSMUST00000215447] [ENSMUST00000216392]
AlphaFold Q8VGM9
Predicted Effect probably benign
Transcript: ENSMUST00000190757
AA Change: E106K

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000139920
Gene: ENSMUSG00000099486
AA Change: E106K

DomainStartEndE-ValueType
Pfam:7tm_1 51 298 2.6e-27 PFAM
Pfam:7tm_4 150 292 2.9e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215447
AA Change: E94K

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
Predicted Effect probably benign
Transcript: ENSMUST00000216392
AA Change: E94K

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam19 T C 11: 46,022,603 (GRCm39) C519R probably damaging Het
Adgra3 A T 5: 50,118,651 (GRCm39) S966T probably benign Het
Adgrl2 A G 3: 148,529,349 (GRCm39) Y1115H probably damaging Het
Adgrl3 A T 5: 81,874,516 (GRCm39) I938F probably damaging Het
Arhgef17 A C 7: 100,578,131 (GRCm39) L939W probably damaging Het
Arhgef18 A G 8: 3,501,629 (GRCm39) probably null Het
Armh3 G A 19: 45,807,414 (GRCm39) R661W probably damaging Het
Cacna1d A C 14: 30,068,798 (GRCm39) I147S probably benign Het
Cdc42bpa T G 1: 179,911,998 (GRCm39) D525E probably benign Het
Cdh6 T A 15: 13,034,723 (GRCm39) I646F probably damaging Het
Col6a5 T G 9: 105,822,743 (GRCm39) I205L unknown Het
Cpox T A 16: 58,498,311 (GRCm39) Y381* probably null Het
Ctsc T C 7: 87,958,761 (GRCm39) V347A probably damaging Het
Dnaaf9 C T 2: 130,551,188 (GRCm39) E1027K probably damaging Het
Ephb6 A T 6: 41,593,727 (GRCm39) T537S possibly damaging Het
Fam135a T C 1: 24,067,666 (GRCm39) I168V possibly damaging Het
Fam234b T A 6: 135,186,185 (GRCm39) D64E possibly damaging Het
Fgfr2 A T 7: 129,842,970 (GRCm39) D157E probably benign Het
Fstl5 A T 3: 76,500,812 (GRCm39) I414F possibly damaging Het
Glp2r T C 11: 67,648,357 (GRCm39) D115G probably damaging Het
Gpr85 A T 6: 13,836,301 (GRCm39) V201D probably damaging Het
Ido1 A C 8: 25,077,794 (GRCm39) I91S probably damaging Het
Ism2 G A 12: 87,326,536 (GRCm39) P468S probably damaging Het
Map2 A G 1: 66,464,538 (GRCm39) K1643E probably damaging Het
Or10ak8 A G 4: 118,773,995 (GRCm39) V223A probably benign Het
Or5b112 G A 19: 13,319,429 (GRCm39) M102I probably benign Het
Or6c2 C T 10: 129,362,950 (GRCm39) P285S probably damaging Het
Ppargc1a A G 5: 51,615,581 (GRCm39) probably benign Het
Prpf4b T C 13: 35,078,532 (GRCm39) V714A probably damaging Het
Septin8 C T 11: 53,426,809 (GRCm39) T190I probably damaging Het
Slc18a2 A G 19: 59,282,275 (GRCm39) K494R probably benign Het
Slc34a2 A T 5: 53,226,681 (GRCm39) K542N probably damaging Het
Snd1 C A 6: 28,668,600 (GRCm39) T429K probably benign Het
Sntb1 C G 15: 55,506,191 (GRCm39) G461R probably damaging Het
Timm10b T C 7: 105,290,287 (GRCm39) L60P probably damaging Het
Tmprss11a A T 5: 86,559,674 (GRCm39) Y373N probably damaging Het
Usp17la T A 7: 104,510,457 (GRCm39) V354D probably benign Het
Zbtb7b G T 3: 89,288,626 (GRCm39) T64K 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
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
R8280:Or4c122 UTSW 2 89,079,234 (GRCm39) missense probably damaging 0.98
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'- GAATCCTCCTGTCCAAGATACC -3'
(R):5'- CCTTGGACTTTCACAGAACCC -3'

Sequencing Primer
(F):5'- TCCTCCTGTCCAAGATACCATCAC -3'
(R):5'- CCTTGCAACTATTGGGGGCAAC -3'
Posted On 2016-07-22