Incidental Mutation 'R2085:Or4k1'
ID 230290
Institutional Source Beutler Lab
Gene Symbol Or4k1
Ensembl Gene ENSMUSG00000050030
Gene Name olfactory receptor family 4 subfamily K member 1
Synonyms Olfr728, GA_x6K02T2PMLR-5831021-5830086, MOR246-1P
MMRRC Submission 040090-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.575) question?
Stock # R2085 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 50377159-50378094 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 50377580 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 172 (N172I)
Ref Sequence ENSEMBL: ENSMUSP00000149796 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051563] [ENSMUST00000213163] [ENSMUST00000213685] [ENSMUST00000215327] [ENSMUST00000215451]
AlphaFold Q7TRM6
Predicted Effect probably damaging
Transcript: ENSMUST00000051563
AA Change: N172I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000052079
Gene: ENSMUSG00000050030
AA Change: N172I

DomainStartEndE-ValueType
Pfam:7tm_4 31 304 9.8e-43 PFAM
Pfam:7TM_GPCR_Srx 31 304 9.8e-7 PFAM
Pfam:7TM_GPCR_Srsx 35 297 6.5e-9 PFAM
Pfam:7tm_1 41 287 1e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213163
Predicted Effect probably damaging
Transcript: ENSMUST00000213685
AA Change: N172I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214046
Predicted Effect probably benign
Transcript: ENSMUST00000215327
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215329
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216423
Predicted Effect probably benign
Transcript: ENSMUST00000215451
Meta Mutation Damage Score 0.3018 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810408A11Rik G T 11: 69,791,198 (GRCm39) T127K possibly damaging Het
A2m T G 6: 121,653,918 (GRCm39) I1417S probably damaging Het
Acad10 A G 5: 121,787,523 (GRCm39) I142T possibly damaging Het
Adprm T A 11: 66,932,678 (GRCm39) D77V probably damaging Het
Apob C T 12: 8,062,240 (GRCm39) T3574I probably damaging Het
Bahcc1 A G 11: 120,178,908 (GRCm39) K2489R probably damaging Het
Bub1b A G 2: 118,452,676 (GRCm39) E443G possibly damaging Het
Cd9 A T 6: 125,440,734 (GRCm39) probably null Het
Cgnl1 G A 9: 71,538,160 (GRCm39) T1194M probably damaging Het
Clec9a T C 6: 129,387,274 (GRCm39) V43A probably benign Het
Col11a1 C T 3: 113,951,791 (GRCm39) R1074C probably damaging Het
Dpep3 A G 8: 106,701,346 (GRCm39) V401A probably damaging Het
Duox2 G T 2: 122,111,448 (GRCm39) H1417N probably damaging Het
Efhb C T 17: 53,733,937 (GRCm39) probably null Het
F2r T C 13: 95,741,418 (GRCm39) N39S probably benign Het
Fcamr T C 1: 130,739,335 (GRCm39) F212L probably damaging Het
Galt G A 4: 41,758,162 (GRCm39) R309Q probably damaging Het
Gas2l2 C A 11: 83,318,209 (GRCm39) A167S probably benign Het
Hecw1 A T 13: 14,438,672 (GRCm39) F904I possibly damaging Het
Herc2 C A 7: 55,862,713 (GRCm39) H4127Q possibly damaging Het
Hipk1 T C 3: 103,657,670 (GRCm39) T805A probably benign Het
Hivep1 A G 13: 42,337,226 (GRCm39) E2435G probably benign Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Hivep2 C A 10: 14,015,273 (GRCm39) C1813* probably null Het
Hyal4 C T 6: 24,755,749 (GRCm39) probably benign Het
Inpp4b A G 8: 82,678,903 (GRCm39) Y311C probably damaging Het
Itih4 A G 14: 30,614,280 (GRCm39) Y410C possibly damaging Het
Lama2 A T 10: 27,080,837 (GRCm39) C995* probably null Het
Lingo4 C A 3: 94,309,552 (GRCm39) D163E probably damaging Het
Malt1 A G 18: 65,606,218 (GRCm39) D642G probably damaging Het
Mbd4 T A 6: 115,825,918 (GRCm39) M358L probably benign Het
Mbd5 T A 2: 49,169,323 (GRCm39) F1498Y possibly damaging Het
Me1 T C 9: 86,495,607 (GRCm39) Q280R probably damaging Het
Megf9 T C 4: 70,367,004 (GRCm39) H326R probably damaging Het
Nid2 G A 14: 19,828,111 (GRCm39) G516S probably benign Het
Or13p10 T C 4: 118,523,301 (GRCm39) S196P probably damaging Het
Or1e1 T C 11: 73,245,247 (GRCm39) S223P possibly damaging Het
Or5h18 C T 16: 58,848,232 (GRCm39) V13I probably benign Het
Or8b1c A G 9: 38,384,223 (GRCm39) Y60C probably damaging Het
Polr2j T C 5: 136,145,625 (GRCm39) F7L probably damaging Het
Ppp1r16a T A 15: 76,577,796 (GRCm39) D303E probably damaging Het
Prickle2 T C 6: 92,353,345 (GRCm39) E763G probably damaging Het
Rdh11 T C 12: 79,229,556 (GRCm39) Y239C possibly damaging Het
Sdhaf3 A G 6: 6,956,048 (GRCm39) R8G probably benign Het
Sgk2 T C 2: 162,854,890 (GRCm39) S305P probably damaging Het
Sptbn2 A G 19: 4,788,587 (GRCm39) S1189G probably benign Het
Stab2 A G 10: 86,790,023 (GRCm39) L581P probably damaging Het
Tifab T C 13: 56,324,110 (GRCm39) Q111R probably damaging Het
Ubr3 C T 2: 69,784,108 (GRCm39) R775C probably damaging Het
Usp17lb T A 7: 104,489,622 (GRCm39) Q434L possibly damaging Het
Wdr46 G T 17: 34,160,425 (GRCm39) E135* probably null Het
Zfp318 T A 17: 46,720,590 (GRCm39) probably null Het
Zfp874a T A 13: 67,590,967 (GRCm39) H239L probably damaging Het
Zscan29 A T 2: 121,000,427 (GRCm39) L60* probably null Het
Other mutations in Or4k1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01101:Or4k1 APN 14 50,377,511 (GRCm39) missense probably benign 0.06
IGL02080:Or4k1 APN 14 50,377,579 (GRCm39) missense probably damaging 1.00
IGL03187:Or4k1 APN 14 50,377,257 (GRCm39) missense probably damaging 0.98
R1613:Or4k1 UTSW 14 50,377,751 (GRCm39) missense probably damaging 1.00
R1671:Or4k1 UTSW 14 50,377,290 (GRCm39) missense probably damaging 1.00
R1876:Or4k1 UTSW 14 50,377,629 (GRCm39) missense probably damaging 0.99
R2086:Or4k1 UTSW 14 50,377,580 (GRCm39) missense probably damaging 1.00
R2158:Or4k1 UTSW 14 50,377,580 (GRCm39) missense probably damaging 1.00
R2226:Or4k1 UTSW 14 50,378,076 (GRCm39) missense probably damaging 1.00
R2516:Or4k1 UTSW 14 50,377,440 (GRCm39) missense probably benign
R4454:Or4k1 UTSW 14 50,377,953 (GRCm39) missense probably benign 0.00
R4714:Or4k1 UTSW 14 50,377,436 (GRCm39) missense possibly damaging 0.55
R4754:Or4k1 UTSW 14 50,377,491 (GRCm39) missense probably benign 0.02
R4754:Or4k1 UTSW 14 50,377,490 (GRCm39) missense possibly damaging 0.90
R5275:Or4k1 UTSW 14 50,377,953 (GRCm39) missense probably benign 0.35
R5339:Or4k1 UTSW 14 50,377,759 (GRCm39) missense probably damaging 0.96
R6614:Or4k1 UTSW 14 50,377,821 (GRCm39) missense probably damaging 1.00
R6713:Or4k1 UTSW 14 50,377,181 (GRCm39) missense probably benign
R6900:Or4k1 UTSW 14 50,377,295 (GRCm39) missense possibly damaging 0.94
R7062:Or4k1 UTSW 14 50,377,907 (GRCm39) missense probably damaging 1.00
R7192:Or4k1 UTSW 14 50,377,577 (GRCm39) missense possibly damaging 0.48
R7528:Or4k1 UTSW 14 50,377,277 (GRCm39) missense possibly damaging 0.93
R7740:Or4k1 UTSW 14 50,377,803 (GRCm39) missense probably benign 0.05
R9198:Or4k1 UTSW 14 50,377,990 (GRCm39) nonsense probably null
R9215:Or4k1 UTSW 14 50,377,829 (GRCm39) missense probably benign
R9380:Or4k1 UTSW 14 50,377,770 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGACCCACTAGAGGACTGC -3'
(R):5'- ACACCGAAGATGCTTGTGGAC -3'

Sequencing Primer
(F):5'- ACTAGAGGACTGCCGTTGGAC -3'
(R):5'- AGGGTTGTATGGCTCAAATATTTC -3'
Posted On 2014-09-18