Incidental Mutation 'R8425:Or4c116'
ID 653392
Institutional Source Beutler Lab
Gene Symbol Or4c116
Ensembl Gene ENSMUSG00000075102
Gene Name olfactory receptor family 4 subfamily C member 116
Synonyms Olfr1221, MOR233-3, GA_x6K02T2Q125-50591144-50590209
MMRRC Submission 067819-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # R8425 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 88941919-88942854 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 88942737 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 40 (N40Y)
Ref Sequence ENSEMBL: ENSMUSP00000150194 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099795] [ENSMUST00000143255] [ENSMUST00000213404] [ENSMUST00000217635]
AlphaFold L7MU53
Predicted Effect probably damaging
Transcript: ENSMUST00000099795
AA Change: N40Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097383
Gene: ENSMUSG00000075102
AA Change: N40Y

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 5.6e-48 PFAM
Pfam:7tm_1 39 302 3.6e-16 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000143255
AA Change: N40Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000213404
AA Change: N40Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000217635
AA Change: N40Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013D24Rik T C 6: 124,324,745 (GRCm39) E92G possibly damaging Het
Aasdh A T 5: 77,034,124 (GRCm39) Y476N possibly damaging Het
Abca13 G T 11: 9,264,623 (GRCm39) V3002F possibly damaging Het
Adam23 C T 1: 63,624,536 (GRCm39) T788I probably damaging Het
Adgrb2 A G 4: 129,898,850 (GRCm39) T282A possibly damaging Het
Adgrg1 T C 8: 95,735,035 (GRCm39) Y402H probably damaging Het
Agpat2 A T 2: 26,483,666 (GRCm39) L257Q probably benign Het
Agpat3 A T 10: 78,118,211 (GRCm39) V255E possibly damaging Het
Akap6 A G 12: 52,933,404 (GRCm39) I299V probably benign Het
Anapc1 A T 2: 128,511,788 (GRCm39) F468L probably damaging Het
Apob T A 12: 8,038,842 (GRCm39) N431K possibly damaging Het
Asprv1 T A 6: 86,605,851 (GRCm39) D232E probably benign Het
AW209491 A G 13: 14,811,921 (GRCm39) Y258C probably damaging Het
Bach2 C T 4: 32,562,316 (GRCm39) P261L probably benign Het
Cap2 T A 13: 46,763,208 (GRCm39) I146K probably damaging Het
Catsperb A T 12: 101,569,028 (GRCm39) Q900L probably benign Het
Ccdc187 A T 2: 26,171,548 (GRCm39) V310D probably damaging Het
Cenpe G T 3: 134,948,388 (GRCm39) G1275* probably null Het
Chd8 C T 14: 52,448,012 (GRCm39) G1663D probably damaging Het
Col6a5 T A 9: 105,823,156 (GRCm39) Y67F unknown Het
Cuzd1 G T 7: 130,919,720 (GRCm39) T132K possibly damaging Het
Ddr2 T A 1: 169,863,585 (GRCm39) probably benign Het
Ddx42 T C 11: 106,138,550 (GRCm39) I783T probably benign Het
Dennd4a T A 9: 64,746,256 (GRCm39) D47E probably damaging Het
Dvl2 T G 11: 69,898,673 (GRCm39) W379G probably damaging Het
Ehbp1 A G 11: 21,963,495 (GRCm39) L1160P probably damaging Het
Eml6 A G 11: 29,705,008 (GRCm39) V1512A probably benign Het
Ephb6 T C 6: 41,595,580 (GRCm39) S780P probably damaging Het
Exo5 G A 4: 120,779,560 (GRCm39) L102F probably benign Het
Fam220a A T 5: 143,548,594 (GRCm39) K2M possibly damaging Het
Fanci A T 7: 79,083,289 (GRCm39) I731L probably benign Het
Gbp8 A G 5: 105,165,640 (GRCm39) S338P probably damaging Het
H2-M11 T C 17: 36,859,649 (GRCm39) I214T probably benign Het
Hhatl C A 9: 121,618,168 (GRCm39) A196S probably benign Het
Hspg2 C A 4: 137,278,178 (GRCm39) C2988* probably null Het
Ifi213 A G 1: 173,417,426 (GRCm39) S329P probably benign Het
Lingo3 G T 10: 80,670,816 (GRCm39) F371L probably benign Het
Maml2 C T 9: 13,531,413 (GRCm39) T209I Het
Ndufaf3 T C 9: 108,444,182 (GRCm39) probably benign Het
Nfatc2 C T 2: 168,378,216 (GRCm39) G483E probably damaging Het
Npy6r A C 18: 44,409,070 (GRCm39) T164P probably benign Het
Omg T C 11: 79,392,826 (GRCm39) E344G possibly damaging Het
Or2g25 T A 17: 37,970,975 (GRCm39) N83I probably damaging Het
Or2h15 T C 17: 38,441,927 (GRCm39) D52G possibly damaging Het
Or52n20 A G 7: 104,320,502 (GRCm39) N198D probably damaging Het
Or5k1 A G 16: 58,617,966 (GRCm39) M81T probably benign Het
Or9i1 T C 19: 13,839,849 (GRCm39) S231P probably benign Het
P2rx7 A G 5: 122,808,521 (GRCm39) E301G probably damaging Het
Phf8-ps C A 17: 33,286,038 (GRCm39) A255S probably benign Het
Pkhd1l1 T C 15: 44,437,911 (GRCm39) S3569P probably benign Het
Pkn3 G A 2: 29,976,513 (GRCm39) probably null Het
Proc C T 18: 32,256,411 (GRCm39) V419M probably damaging Het
Prss37 C T 6: 40,493,052 (GRCm39) W138* probably null Het
Prss52 T A 14: 64,350,009 (GRCm39) L212* probably null Het
Rnps1 A G 17: 24,637,143 (GRCm39) K8E unknown Het
Rpf2 A T 10: 40,101,429 (GRCm39) L202* probably null Het
Saraf C T 8: 34,632,602 (GRCm39) P227L probably benign Het
Serpinb5 T A 1: 106,809,515 (GRCm39) M307K possibly damaging Het
Slc46a1 T C 11: 78,359,471 (GRCm39) S368P possibly damaging Het
Slc49a4 A T 16: 35,555,967 (GRCm39) N164K probably benign Het
Slfn8 T A 11: 82,895,441 (GRCm39) Q455L possibly damaging Het
Sv2b A G 7: 74,767,347 (GRCm39) M683T probably damaging Het
Tacc3 G T 5: 33,821,874 (GRCm39) L211F unknown Het
Tbc1d8 A G 1: 39,420,490 (GRCm39) V681A probably damaging Het
Tbkbp1 T C 11: 97,029,677 (GRCm39) E493G unknown Het
Th A T 7: 142,447,823 (GRCm39) V420E possibly damaging Het
Tmem132c T G 5: 127,641,421 (GRCm39) V115G Het
Usp40 G A 1: 87,887,558 (GRCm39) R915C probably benign Het
Wdr81 T A 11: 75,342,348 (GRCm39) H973L possibly damaging Het
Zdhhc6 A G 19: 55,302,876 (GRCm39) S42P probably benign Het
Zfp369 T A 13: 65,444,489 (GRCm39) I544N possibly damaging Het
Other mutations in Or4c116
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01074:Or4c116 APN 2 88,942,023 (GRCm39) missense probably benign 0.19
IGL01965:Or4c116 APN 2 88,942,535 (GRCm39) missense probably benign 0.37
IGL02645:Or4c116 APN 2 88,941,963 (GRCm39) missense probably benign 0.00
G1patch:Or4c116 UTSW 2 88,942,640 (GRCm39) missense possibly damaging 0.81
PIT4354001:Or4c116 UTSW 2 88,942,830 (GRCm39) nonsense probably null
R0124:Or4c116 UTSW 2 88,942,088 (GRCm39) missense possibly damaging 0.56
R0940:Or4c116 UTSW 2 88,942,419 (GRCm39) missense probably benign
R3689:Or4c116 UTSW 2 88,942,386 (GRCm39) missense possibly damaging 0.85
R4489:Or4c116 UTSW 2 88,941,916 (GRCm39) splice site probably null
R4706:Or4c116 UTSW 2 88,942,576 (GRCm39) missense probably damaging 0.98
R4707:Or4c116 UTSW 2 88,942,576 (GRCm39) missense probably damaging 0.98
R5133:Or4c116 UTSW 2 88,942,140 (GRCm39) splice site probably null
R6629:Or4c116 UTSW 2 88,942,506 (GRCm39) missense probably benign 0.09
R6644:Or4c116 UTSW 2 88,942,325 (GRCm39) missense probably benign 0.00
R6723:Or4c116 UTSW 2 88,942,640 (GRCm39) missense possibly damaging 0.81
R6725:Or4c116 UTSW 2 88,942,640 (GRCm39) missense possibly damaging 0.81
R6754:Or4c116 UTSW 2 88,942,640 (GRCm39) missense possibly damaging 0.81
R6765:Or4c116 UTSW 2 88,942,640 (GRCm39) missense possibly damaging 0.81
R6766:Or4c116 UTSW 2 88,942,640 (GRCm39) missense possibly damaging 0.81
R7215:Or4c116 UTSW 2 88,942,845 (GRCm39) nonsense probably null
R7562:Or4c116 UTSW 2 88,942,629 (GRCm39) missense probably benign 0.00
R7681:Or4c116 UTSW 2 88,941,935 (GRCm39) missense probably benign 0.00
R7981:Or4c116 UTSW 2 88,942,400 (GRCm39) missense probably damaging 1.00
R8318:Or4c116 UTSW 2 88,942,242 (GRCm39) missense probably benign 0.02
R8788:Or4c116 UTSW 2 88,942,626 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GGTCATGCAGCCTTCAAAAG -3'
(R):5'- TAAGGATGAGCCAACTTGATGG -3'

Sequencing Primer
(F):5'- GTCATGCAGCCTTCAAAAGAAATG -3'
(R):5'- GATGAGCCAACTTGATGGTAATG -3'
Posted On 2020-10-20