Incidental Mutation 'R6218:Or4f62'
ID 503823
Institutional Source Beutler Lab
Gene Symbol Or4f62
Ensembl Gene ENSMUSG00000049758
Gene Name olfactory receptor family 4 subfamily F member 62
Synonyms MOR245-16, GA_x6K02T2Q125-73202172-73203134, Olfr1318
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R6218 (G1)
Quality Score 189.009
Status Validated
Chromosome 2
Chromosomal Location 111986243-111987352 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 111986701 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 135 (I135T)
Ref Sequence ENSEMBL: ENSMUSP00000151164 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058176] [ENSMUST00000214063] [ENSMUST00000217533]
AlphaFold Q7TQW6
Predicted Effect probably damaging
Transcript: ENSMUST00000058176
AA Change: I135T

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000051938
Gene: ENSMUSG00000049758
AA Change: I135T

DomainStartEndE-ValueType
Pfam:7tm_4 31 305 2.4e-39 PFAM
Pfam:7tm_1 41 287 1.5e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214063
AA Change: I135T

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215341
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216873
Predicted Effect probably damaging
Transcript: ENSMUST00000217533
AA Change: I135T

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (65/65)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300003K06Rik G T 11: 99,728,730 (GRCm39) Q38K probably benign Het
9930111J21Rik2 A T 11: 48,910,134 (GRCm39) N766K probably benign Het
Adam15 A C 3: 89,251,190 (GRCm39) I505S probably benign Het
Apc2 T C 10: 80,142,254 (GRCm39) M391T probably damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Bclaf1 A G 10: 20,210,374 (GRCm39) S840G probably benign Het
Cacna2d4 A G 6: 119,216,021 (GRCm39) Y96C probably damaging Het
Cald1 CAAAA CAAA 6: 34,724,863 (GRCm39) probably null Het
Ddhd1 A G 14: 45,851,633 (GRCm39) L141P probably damaging Het
Dnaaf3 A T 7: 4,526,671 (GRCm39) S469T probably benign Het
Dzip3 A T 16: 48,778,828 (GRCm39) M323K possibly damaging Het
Eci2 T A 13: 35,177,048 (GRCm39) probably null Het
Fam227b A T 2: 125,968,882 (GRCm39) V64E probably damaging Het
Galnt2 A G 8: 125,070,054 (GRCm39) I524V probably benign Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Gm3443 T A 19: 21,533,110 (GRCm39) S25T probably damaging Het
Gpr22 T A 12: 31,761,616 (GRCm39) K14* probably null Het
Grip1 T C 10: 119,822,251 (GRCm39) S405P possibly damaging Het
Helz2 T C 2: 180,877,738 (GRCm39) H1020R probably damaging Het
Helz2 C A 2: 180,874,087 (GRCm39) V2136L probably benign Het
Il36rn G A 2: 24,167,502 (GRCm39) probably benign Het
Iqsec1 T A 6: 90,666,617 (GRCm39) S607C probably damaging Het
Irag1 G A 7: 110,476,112 (GRCm39) T819M probably benign Het
Klhl2 A T 8: 65,205,801 (GRCm39) Y373* probably null Het
L3mbtl3 T C 10: 26,168,645 (GRCm39) I595V unknown Het
Large2 T C 2: 92,200,981 (GRCm39) D65G probably damaging Het
Lrrfip1 T C 1: 91,009,881 (GRCm39) Y122H probably damaging Het
Map1b A T 13: 99,569,714 (GRCm39) D1002E unknown Het
Mink1 C T 11: 70,489,720 (GRCm39) T59I possibly damaging Het
Myo7b T C 18: 32,092,507 (GRCm39) N2097D probably benign Het
Nbea C A 3: 55,535,905 (GRCm39) C2893F probably damaging Het
Nlgn1 A T 3: 25,490,257 (GRCm39) V490E probably damaging Het
Or2w1b G A 13: 21,300,401 (GRCm39) E180K probably damaging Het
Or2y3 A G 17: 38,393,620 (GRCm39) M83T probably damaging Het
Or4c123 G T 2: 89,127,306 (GRCm39) H103N probably damaging Het
Or4k2 C A 14: 50,424,135 (GRCm39) D180Y probably damaging Het
Pctp A G 11: 89,878,144 (GRCm39) I130T probably benign Het
Pdcl3 T C 1: 39,027,152 (GRCm39) probably null Het
Pheta2 T A 15: 82,227,917 (GRCm39) H145Q probably benign Het
Pira12 A T 7: 3,897,031 (GRCm39) S602T possibly damaging Het
Pkp1 T C 1: 135,807,646 (GRCm39) K541E probably damaging Het
Plekhh2 G A 17: 84,898,992 (GRCm39) V990I probably benign Het
Ppp1r3a A T 6: 14,718,430 (GRCm39) V828D probably damaging Het
Prrc2b T C 2: 32,098,823 (GRCm39) Y712H probably damaging Het
Prune2 T C 19: 17,098,926 (GRCm39) S1477P probably benign Het
Psma5 A G 3: 108,187,118 (GRCm39) K239R probably benign Het
Rhobtb1 G C 10: 69,106,286 (GRCm39) A284P probably benign Het
Samsn1 G A 16: 75,742,162 (GRCm39) noncoding transcript Het
Scel A G 14: 103,809,478 (GRCm39) T273A probably benign Het
Slc22a5 T A 11: 53,782,444 (GRCm39) probably benign Het
Slc25a37 A T 14: 69,486,953 (GRCm39) M110K possibly damaging Het
Slc6a2 A T 8: 93,708,609 (GRCm39) M242L probably benign Het
Slc8a3 C A 12: 81,246,341 (GRCm39) W904L probably benign Het
Ss18l1 G A 2: 179,696,905 (GRCm39) V109I probably benign Het
Tbx5 C T 5: 119,991,663 (GRCm39) H245Y probably damaging Het
Thumpd2 C A 17: 81,360,342 (GRCm39) L244F probably damaging Het
Tmem107 T A 11: 68,962,241 (GRCm39) V66E probably damaging Het
Tnr T C 1: 159,715,884 (GRCm39) V882A possibly damaging Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Ttbk1 A G 17: 46,781,733 (GRCm39) V340A possibly damaging Het
Veph1 T C 3: 66,162,481 (GRCm39) E59G probably damaging Het
Vmn1r234 T A 17: 21,449,983 (GRCm39) M299K possibly damaging Het
Vps13b T C 15: 35,770,610 (GRCm39) Y2018H probably benign Het
Zbtb11 A G 16: 55,818,436 (GRCm39) E620G probably benign Het
Zfp418 A G 7: 7,185,627 (GRCm39) H530R possibly damaging Het
Zfp764l1 C T 7: 126,992,581 (GRCm39) A10T possibly damaging Het
Other mutations in Or4f62
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Or4f62 APN 2 111,986,412 (GRCm39) missense probably benign
IGL00923:Or4f62 APN 2 111,987,122 (GRCm39) missense possibly damaging 0.75
IGL02800:Or4f62 APN 2 111,986,589 (GRCm39) missense possibly damaging 0.95
R0012:Or4f62 UTSW 2 111,987,171 (GRCm39) missense possibly damaging 0.84
R1614:Or4f62 UTSW 2 111,986,862 (GRCm39) missense probably damaging 1.00
R1989:Or4f62 UTSW 2 111,986,722 (GRCm39) missense probably benign 0.00
R2428:Or4f62 UTSW 2 111,986,787 (GRCm39) missense probably benign 0.03
R2963:Or4f62 UTSW 2 111,986,804 (GRCm39) nonsense probably null
R4868:Or4f62 UTSW 2 111,986,916 (GRCm39) missense probably damaging 0.99
R4960:Or4f62 UTSW 2 111,986,697 (GRCm39) missense probably benign 0.00
R5121:Or4f62 UTSW 2 111,986,631 (GRCm39) missense possibly damaging 0.47
R6294:Or4f62 UTSW 2 111,986,364 (GRCm39) missense probably benign
R6350:Or4f62 UTSW 2 111,986,542 (GRCm39) missense probably damaging 0.99
R6515:Or4f62 UTSW 2 111,986,710 (GRCm39) missense probably benign 0.00
R6722:Or4f62 UTSW 2 111,987,227 (GRCm39) missense probably benign
R6829:Or4f62 UTSW 2 111,986,139 (GRCm39) intron probably benign
R7186:Or4f62 UTSW 2 111,986,507 (GRCm39) missense probably damaging 1.00
R7206:Or4f62 UTSW 2 111,986,804 (GRCm39) missense probably damaging 1.00
R7444:Or4f62 UTSW 2 111,987,060 (GRCm39) missense probably damaging 1.00
R8293:Or4f62 UTSW 2 111,986,598 (GRCm39) missense probably benign 0.07
R8474:Or4f62 UTSW 2 111,986,320 (GRCm39) missense probably benign
R8712:Or4f62 UTSW 2 111,986,934 (GRCm39) missense probably damaging 1.00
R8749:Or4f62 UTSW 2 111,986,869 (GRCm39) missense possibly damaging 0.60
R8888:Or4f62 UTSW 2 111,986,974 (GRCm39) missense probably benign 0.00
R9223:Or4f62 UTSW 2 111,986,473 (GRCm39) missense possibly damaging 0.58
R9406:Or4f62 UTSW 2 111,986,643 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- AGCATCGCTACTCCAAAGATG -3'
(R):5'- GGCCATGGAGATGAAACCAC -3'

Sequencing Primer
(F):5'- CGCTACTCCAAAGATGATTTATGACC -3'
(R):5'- ACCAGGAACTCCAGTCTGTATGTG -3'
Posted On 2018-02-27