Incidental Mutation 'R0141:Or4k77'
ID 22299
Institutional Source Beutler Lab
Gene Symbol Or4k77
Ensembl Gene ENSMUSG00000109322
Gene Name olfactory receptor family 4 subfamily K member 77
Synonyms MOR248-19, Olfr1283, GA_x6K02T2Q125-72420217-72421134
MMRRC Submission 038426-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.526) question?
Stock # R0141 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 2
Chromosomal Location 111198979-111199896 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 111199835 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 286 (I286N)
Ref Sequence ENSEMBL: ENSMUSP00000150510 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082167] [ENSMUST00000090328] [ENSMUST00000204064] [ENSMUST00000216637]
AlphaFold Q7TQY4
Predicted Effect probably damaging
Transcript: ENSMUST00000082167
AA Change: I286N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000080805
Gene: ENSMUSG00000109449
AA Change: I286N

DomainStartEndE-ValueType
Pfam:7tm_4 31 305 3.8e-50 PFAM
Pfam:7tm_1 41 287 9.9e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000090328
AA Change: I286N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000087800
Gene: ENSMUSG00000109322
AA Change: I286N

DomainStartEndE-ValueType
Pfam:7tm_4 31 304 3.6e-49 PFAM
Pfam:7tm_1 41 287 3.9e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000204064
AA Change: I286N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145495
Gene: ENSMUSG00000109322
AA Change: I286N

DomainStartEndE-ValueType
Pfam:7tm_4 30 298 2.1e-39 PFAM
Pfam:7tm_1 40 286 7.8e-15 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216637
AA Change: I286N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.5%
  • 20x: 89.9%
Validation Efficiency 88% (50/57)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot12 A C 13: 91,919,947 (GRCm39) D294A probably benign Het
Adamts9 T C 6: 92,920,066 (GRCm39) D24G probably benign Het
Ahnak G A 19: 8,984,044 (GRCm39) G1776D probably damaging Het
Arfgef3 C A 10: 18,473,155 (GRCm39) C1636F probably damaging Het
AW551984 A G 9: 39,501,940 (GRCm39) L722P probably damaging Het
Ccndbp1 T A 2: 120,842,903 (GRCm39) M188K probably damaging Het
Col27a1 A T 4: 63,183,870 (GRCm39) probably null Het
Cpt1c A G 7: 44,616,095 (GRCm39) Y306H probably damaging Het
Cyp3a57 A G 5: 145,298,912 (GRCm39) I71V probably benign Het
Def8 G A 8: 124,183,234 (GRCm39) A278T probably damaging Het
Dmrt2 A T 19: 25,655,655 (GRCm39) Q418L possibly damaging Het
Ebf1 T C 11: 44,798,827 (GRCm39) L284S probably damaging Het
Fam131a G A 16: 20,517,738 (GRCm39) A15T probably benign Het
Fbxo17 A G 7: 28,432,916 (GRCm39) T146A possibly damaging Het
Fer1l6 A G 15: 58,430,251 (GRCm39) E226G probably damaging Het
Galnt18 A T 7: 111,198,238 (GRCm39) I174N probably damaging Het
Gm44501 T C 17: 40,889,744 (GRCm39) I86T probably benign Het
Gtsf1l T C 2: 162,929,246 (GRCm39) Q79R probably benign Het
Hapln4 T C 8: 70,540,930 (GRCm39) L321P probably damaging Het
Herc2 A G 7: 55,771,309 (GRCm39) T1024A probably benign Het
Hps5 A G 7: 46,438,605 (GRCm39) S43P probably damaging Het
Igsf10 A G 3: 59,238,253 (GRCm39) Y643H probably damaging Het
Lama4 G A 10: 38,968,274 (GRCm39) R1472H probably benign Het
Lhx9 A G 1: 138,767,744 (GRCm39) Y73H possibly damaging Het
Loxl1 T A 9: 58,219,415 (GRCm39) Q252L probably damaging Het
Lrrc37 A C 11: 103,504,512 (GRCm39) I2485M probably damaging Het
Nfat5 C T 8: 108,065,707 (GRCm39) R156W probably damaging Het
Nr3c2 T A 8: 77,635,037 (GRCm39) V46D probably damaging Het
Or11h4 T C 14: 50,973,840 (GRCm39) S260G possibly damaging Het
Or5i1 C G 2: 87,613,049 (GRCm39) P55R possibly damaging Het
Or5p63 A C 7: 107,811,210 (GRCm39) N175K possibly damaging Het
Or5p70 A T 7: 107,994,575 (GRCm39) N83Y probably benign Het
Osbp T C 19: 11,951,223 (GRCm39) V256A possibly damaging Het
Pclo A T 5: 14,841,936 (GRCm39) D4737V unknown Het
Pkdrej A G 15: 85,699,831 (GRCm39) I2035T probably damaging Het
Plek2 A G 12: 78,941,278 (GRCm39) S185P probably damaging Het
Pnpla6 G T 8: 3,582,117 (GRCm39) probably null Het
Pou3f2 T C 4: 22,487,210 (GRCm39) T308A possibly damaging Het
Pramel22 T C 4: 143,381,138 (GRCm39) Y295C probably benign Het
Pxmp4 A G 2: 154,434,215 (GRCm39) V82A probably damaging Het
Rnf6 A T 5: 146,148,645 (GRCm39) N135K possibly damaging Het
Rtl1 A G 12: 109,559,382 (GRCm39) V819A probably damaging Het
Scn1a C A 2: 66,119,406 (GRCm39) V1355L probably damaging Het
Scn2a T A 2: 65,542,160 (GRCm39) N754K probably benign Het
Serpina3b A T 12: 104,097,030 (GRCm39) N104Y probably damaging Het
Sh3rf2 T C 18: 42,289,122 (GRCm39) S648P probably benign Het
Slc17a6 G A 7: 51,318,815 (GRCm39) V486I probably benign Het
Spata31e2 A T 1: 26,722,863 (GRCm39) N772K probably benign Het
Syne2 T G 12: 75,988,072 (GRCm39) D1743E probably damaging Het
Tex14 T G 11: 87,383,857 (GRCm39) probably null Het
Tfb1m T C 17: 3,605,232 (GRCm39) D87G probably damaging Het
Tll2 C T 19: 41,086,351 (GRCm39) G609S probably damaging Het
Tsc22d2 A T 3: 58,324,577 (GRCm39) probably benign Het
Tsen2 A G 6: 115,545,790 (GRCm39) D360G probably damaging Het
Ugt2b37 G A 5: 87,388,842 (GRCm39) P457L probably damaging Het
Vmn1r68 T C 7: 10,261,252 (GRCm39) N282S possibly damaging Het
Vmn2r58 G A 7: 41,511,309 (GRCm39) S498F probably benign Het
Zfp959 T C 17: 56,205,139 (GRCm39) I392T probably benign Het
Other mutations in Or4k77
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02337:Or4k77 APN 2 111,199,496 (GRCm39) missense probably benign 0.22
IGL02716:Or4k77 APN 2 111,199,126 (GRCm39) missense probably benign 0.04
R0090:Or4k77 UTSW 2 111,199,639 (GRCm39) missense probably damaging 1.00
R0371:Or4k77 UTSW 2 111,199,498 (GRCm39) missense probably benign 0.00
R0417:Or4k77 UTSW 2 111,199,450 (GRCm39) missense possibly damaging 0.57
R1673:Or4k77 UTSW 2 111,199,552 (GRCm39) missense probably benign 0.11
R1970:Or4k77 UTSW 2 111,199,421 (GRCm39) missense probably benign 0.19
R2069:Or4k77 UTSW 2 111,199,440 (GRCm39) missense probably benign 0.43
R3897:Or4k77 UTSW 2 111,199,106 (GRCm39) missense possibly damaging 0.87
R4408:Or4k77 UTSW 2 111,199,625 (GRCm39) missense possibly damaging 0.63
R5397:Or4k77 UTSW 2 111,199,285 (GRCm39) missense probably benign 0.00
R5888:Or4k77 UTSW 2 111,199,088 (GRCm39) missense probably benign
R6281:Or4k77 UTSW 2 111,199,894 (GRCm39) makesense probably null
R6323:Or4k77 UTSW 2 111,199,046 (GRCm39) missense possibly damaging 0.94
R6801:Or4k77 UTSW 2 111,199,394 (GRCm39) missense probably benign 0.22
R7219:Or4k77 UTSW 2 111,199,882 (GRCm39) missense probably benign
R7271:Or4k77 UTSW 2 111,199,693 (GRCm39) missense probably damaging 1.00
R7438:Or4k77 UTSW 2 111,199,707 (GRCm39) missense probably damaging 1.00
R7761:Or4k77 UTSW 2 111,199,138 (GRCm39) missense probably benign 0.00
R7792:Or4k77 UTSW 2 111,199,748 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- TGGCAACAACTTGTTTCATCCTCTTACT -3'
(R):5'- ATGTTGGGAGCACAGAAAATGTGTAGT -3'

Sequencing Primer
(F):5'- CTGTTCAACTTCACTCTAAAGATGG -3'
(R):5'- CTCATTCTAAGGGATTAAGCTACAAG -3'
Posted On 2013-04-16