Incidental Mutation 'R6801:Or4k77'
ID 533323
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 044914-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.486) question?
Stock # R6801 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 111198979-111199896 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 111199394 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 139 (Q139L)
Ref Sequence ENSEMBL: ENSMUSP00000150510 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090328] [ENSMUST00000204064] [ENSMUST00000216637]
AlphaFold Q7TQY4
Predicted Effect probably benign
Transcript: ENSMUST00000090328
AA Change: Q139L

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000087800
Gene: ENSMUSG00000109322
AA Change: Q139L

DomainStartEndE-ValueType
Pfam:7tm_4 31 304 3.6e-49 PFAM
Pfam:7tm_1 41 287 3.9e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204064
AA Change: Q139L

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000145495
Gene: ENSMUSG00000109322
AA Change: Q139L

DomainStartEndE-ValueType
Pfam:7tm_4 30 298 2.1e-39 PFAM
Pfam:7tm_1 40 286 7.8e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000216637
AA Change: Q139L

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.8%
Validation Efficiency 100% (49/49)
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
Adam3 T A 8: 25,174,680 (GRCm39) Y695F possibly damaging Het
Arhgap20 A G 9: 51,759,892 (GRCm39) D545G probably damaging Het
Arhgef11 A G 3: 87,643,159 (GRCm39) E1457G possibly damaging Het
Atp2b4 T A 1: 133,655,524 (GRCm39) I747F probably damaging Het
Bche T A 3: 73,609,133 (GRCm39) I98L probably benign Het
C2cd6 TC T 1: 59,133,742 (GRCm39) probably null Het
Ccdc90b A G 7: 92,216,943 (GRCm39) T72A probably benign Het
Chrd A G 16: 20,554,497 (GRCm39) E352G possibly damaging Het
Csmd2 A G 4: 128,277,743 (GRCm39) E953G probably benign Het
Dchs2 T A 3: 83,035,841 (GRCm39) M196K probably benign Het
Ddx10 G A 9: 53,159,207 (GRCm39) Q33* probably null Het
Dennd4b T A 3: 90,176,086 (GRCm39) V201E probably damaging Het
Fbn2 T A 18: 58,246,420 (GRCm39) H494L probably benign Het
Fbxw13 G A 9: 109,023,795 (GRCm39) A83V probably null Het
Fxr1 A G 3: 34,108,452 (GRCm39) D321G possibly damaging Het
Galm A G 17: 80,489,053 (GRCm39) H233R probably benign Het
Gm7298 A G 6: 121,752,768 (GRCm39) T837A probably benign Het
Gmppa C G 1: 75,418,391 (GRCm39) S258C possibly damaging Het
Hk1 T G 10: 62,116,910 (GRCm39) E645A probably damaging Het
Igkv1-132 A G 6: 67,737,324 (GRCm39) T97A probably damaging Het
Kcnc1 T C 7: 46,084,716 (GRCm39) F547L probably damaging Het
Lama5 G A 2: 179,833,455 (GRCm39) P1519L probably damaging Het
Lingo2 T A 4: 35,709,566 (GRCm39) E138V probably damaging Het
Myb T C 10: 21,020,865 (GRCm39) probably null Het
Mybl1 A G 1: 9,753,353 (GRCm39) V243A probably benign Het
Mylk4 C T 13: 32,912,393 (GRCm39) S189N probably benign Het
Or13c7 T A 4: 43,855,206 (GRCm39) L299* probably null Het
Or2y16 A G 11: 49,335,169 (GRCm39) M164V probably benign Het
Or4x12-ps1 A T 2: 89,915,953 (GRCm39) I284N probably damaging Het
Or5w1b A G 2: 87,475,667 (GRCm39) Y267H probably benign Het
Or8g19 A T 9: 39,055,506 (GRCm39) I37F probably benign Het
Oxld1 A T 11: 120,347,650 (GRCm39) D182E probably damaging Het
Phf13 A T 4: 152,076,017 (GRCm39) L295Q probably damaging Het
Prrc2c TTGCTGCTGCTGCTGCTGCTGCTGCTGC TTGCTGCTGCTGCTGCTGCTGCTGC 1: 162,536,630 (GRCm39) probably benign Het
Prss33 A G 17: 24,053,813 (GRCm39) L88P possibly damaging Het
Ralgds A G 2: 28,438,448 (GRCm39) Y596C probably damaging Het
Rftn2 A G 1: 55,233,418 (GRCm39) I379T possibly damaging Het
Rnf214 C T 9: 45,807,403 (GRCm39) E267K probably damaging Het
Rpp14 T C 14: 8,083,717 (GRCm38) probably benign Het
Rpusd2 A G 2: 118,865,876 (GRCm39) Y191C probably damaging Het
Serpinb9c T A 13: 33,341,807 (GRCm39) M1L probably benign Het
Shroom3 A G 5: 93,088,795 (GRCm39) D434G probably damaging Het
Smc5 G A 19: 23,192,010 (GRCm39) S888L probably benign Het
Suv39h2 C T 2: 3,465,458 (GRCm39) R299K probably benign Het
Trappc4 A T 9: 44,315,685 (GRCm39) I176N probably damaging Het
Trim12c A T 7: 103,997,337 (GRCm39) V73E probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging 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
R0141:Or4k77 UTSW 2 111,199,835 (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
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'- CCTCTATCTAATGGCTGTGGTAGG -3'
(R):5'- TGTTGCCAAAACACCACTGTC -3'

Sequencing Primer
(F):5'- GCAACCTCTTTGTTGTGATATTGATC -3'
(R):5'- AACACCACTGTCAGCATTTATTAG -3'
Posted On 2018-09-12