Incidental Mutation 'R2216:Or13n4'
ID 241156
Institutional Source Beutler Lab
Gene Symbol Or13n4
Ensembl Gene ENSMUSG00000056863
Gene Name olfactory receptor family 13 subfamily N member 4
Synonyms GA_x6K02T2PBJ9-9202245-9201289, MOR260-4, Olfr702
MMRRC Submission 040218-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R2216 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 106422696-106425950 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 106423205 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 176 (H176L)
Ref Sequence ENSEMBL: ENSMUSP00000151862 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075414] [ENSMUST00000080899] [ENSMUST00000166880] [ENSMUST00000208864] [ENSMUST00000208895] [ENSMUST00000217739] [ENSMUST00000219803]
AlphaFold Q920Z2
Predicted Effect probably benign
Transcript: ENSMUST00000075414
SMART Domains Protein: ENSMUSP00000074868
Gene: ENSMUSG00000036744

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 2.9e-46 PFAM
Pfam:7tm_1 41 290 2.3e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000080899
AA Change: H176L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000079704
Gene: ENSMUSG00000056863
AA Change: H176L

DomainStartEndE-ValueType
Pfam:7tm_4 29 307 2.7e-53 PFAM
Pfam:7TM_GPCR_Srsx 35 300 2.9e-8 PFAM
Pfam:7tm_1 41 290 1.5e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166880
SMART Domains Protein: ENSMUSP00000130958
Gene: ENSMUSG00000036744

DomainStartEndE-ValueType
Pfam:7tm_1 41 290 5.8e-31 PFAM
Pfam:7tm_4 139 283 1.8e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000208864
Predicted Effect probably benign
Transcript: ENSMUST00000208895
Predicted Effect probably benign
Transcript: ENSMUST00000217739
Predicted Effect probably damaging
Transcript: ENSMUST00000219803
AA Change: H176L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
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
Aipl1 G T 11: 71,922,272 (GRCm39) P146T probably damaging Het
Arnt2 T A 7: 83,924,559 (GRCm39) T423S probably damaging Het
Bend5 A G 4: 111,305,787 (GRCm39) N277S probably null Het
Cd22 G T 7: 30,566,471 (GRCm39) T816N probably damaging Het
Cep126 G A 9: 8,120,679 (GRCm39) R115C probably damaging Het
Cep85 T C 4: 133,858,741 (GRCm39) H710R possibly damaging Het
Cmya5 A T 13: 93,230,003 (GRCm39) L1695H probably damaging Het
Col24a1 T C 3: 145,020,742 (GRCm39) V371A probably benign Het
Csmd1 T A 8: 17,077,355 (GRCm39) probably null Het
Cyp1a1 T A 9: 57,609,352 (GRCm39) probably null Het
Dennd1c C T 17: 57,381,492 (GRCm39) probably null Het
Dmxl1 G A 18: 50,026,990 (GRCm39) V2033I probably benign Het
Dtna A G 18: 23,702,622 (GRCm39) H51R probably damaging Het
Dysf G A 6: 84,184,227 (GRCm39) probably null Het
Gcn1 T A 5: 115,731,720 (GRCm39) V945E probably benign Het
Gpbar1 C G 1: 74,318,053 (GRCm39) L99V probably damaging Het
Hdac9 A T 12: 34,479,516 (GRCm39) D212E probably damaging Het
Itga1 A T 13: 115,133,565 (GRCm39) D448E probably benign Het
Itga2b T A 11: 102,358,692 (GRCm39) N75I probably benign Het
Klra7 T C 6: 130,205,549 (GRCm39) E117G probably benign Het
Kmt2b G A 7: 30,273,490 (GRCm39) R2349C probably benign Het
Masp1 T C 16: 23,310,805 (GRCm39) N209S probably benign Het
Mybpc2 C T 7: 44,161,924 (GRCm39) probably null Het
Myh15 C G 16: 48,986,201 (GRCm39) S1557* probably null Het
Myo3a A C 2: 22,467,783 (GRCm39) T346P probably benign Het
Nim1k A G 13: 120,175,751 (GRCm39) Y152H probably damaging Het
Nrp2 C T 1: 62,802,077 (GRCm39) R507* probably null Het
Or5e1 C T 7: 108,354,819 (GRCm39) T252M probably damaging Het
Parp14 T C 16: 35,677,575 (GRCm39) I798V probably benign Het
Pcnx2 C T 8: 126,614,816 (GRCm39) A212T probably benign Het
Pkhd1l1 A T 15: 44,437,291 (GRCm39) H3522L probably damaging Het
Pram1 C T 17: 33,860,258 (GRCm39) A275V probably benign Het
Pramel18 T A 4: 101,767,257 (GRCm39) W169R probably damaging Het
Prkag1 A T 15: 98,713,827 (GRCm39) M1K probably null Het
Prss52 T C 14: 64,351,042 (GRCm39) S276P probably damaging Het
Ranbp17 A T 11: 33,431,125 (GRCm39) V284D probably damaging Het
Reln T C 5: 22,253,003 (GRCm39) D648G probably benign Het
Rnf112 A G 11: 61,343,105 (GRCm39) L190P probably damaging Het
Scn5a G T 9: 119,314,678 (GRCm39) P2010Q probably benign Het
Scn5a T C 9: 119,342,151 (GRCm39) Y1138C probably benign Het
Slc4a9 A G 18: 36,663,798 (GRCm39) H274R probably benign Het
Slc5a6 T G 5: 31,196,679 (GRCm39) E391D possibly damaging Het
Speer2 T C 16: 69,655,730 (GRCm39) Q32R possibly damaging Het
Tars1 A G 15: 11,389,794 (GRCm39) V372A probably benign Het
Thsd7a A T 6: 12,337,267 (GRCm39) L1250Q possibly damaging Het
Tnnt3 A G 7: 142,066,301 (GRCm39) Y222C probably benign Het
Trim40 T C 17: 37,199,875 (GRCm39) I68V probably benign Het
Trp53tg5 T C 2: 164,313,226 (GRCm39) I150V probably benign Het
Ube2u T C 4: 100,389,365 (GRCm39) V109A probably benign Het
Usp54 A T 14: 20,611,908 (GRCm39) D969E probably benign Het
Vil1 G T 1: 74,464,838 (GRCm39) R495L probably benign Het
Wfs1 T A 5: 37,124,564 (GRCm39) K700* probably null Het
Zcchc8 A G 5: 123,845,466 (GRCm39) L298P probably damaging Het
Zfp946 A T 17: 22,673,697 (GRCm39) Q150H possibly damaging Het
Other mutations in Or13n4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01549:Or13n4 APN 7 106,423,236 (GRCm39) missense probably benign 0.01
IGL02120:Or13n4 APN 7 106,422,905 (GRCm39) missense possibly damaging 0.94
R0025:Or13n4 UTSW 7 106,422,963 (GRCm39) missense possibly damaging 0.74
R1213:Or13n4 UTSW 7 106,423,404 (GRCm39) missense possibly damaging 0.48
R1830:Or13n4 UTSW 7 106,423,317 (GRCm39) missense probably benign 0.00
R2571:Or13n4 UTSW 7 106,422,933 (GRCm39) missense probably benign 0.09
R2876:Or13n4 UTSW 7 106,423,664 (GRCm39) missense probably benign 0.07
R2920:Or13n4 UTSW 7 106,423,571 (GRCm39) missense probably benign 0.11
R4082:Or13n4 UTSW 7 106,423,245 (GRCm39) missense possibly damaging 0.78
R4130:Or13n4 UTSW 7 106,422,792 (GRCm39) missense probably benign 0.01
R4750:Or13n4 UTSW 7 106,423,514 (GRCm39) missense probably damaging 0.98
R5007:Or13n4 UTSW 7 106,423,364 (GRCm39) missense probably damaging 1.00
R5117:Or13n4 UTSW 7 106,422,869 (GRCm39) missense probably damaging 0.99
R5908:Or13n4 UTSW 7 106,423,404 (GRCm39) missense probably benign 0.09
R6824:Or13n4 UTSW 7 106,423,664 (GRCm39) missense probably benign 0.00
R7193:Or13n4 UTSW 7 106,423,798 (GRCm39) start gained probably benign
R7254:Or13n4 UTSW 7 106,422,777 (GRCm39) makesense probably null
R7827:Or13n4 UTSW 7 106,422,932 (GRCm39) missense probably benign 0.01
R8309:Or13n4 UTSW 7 106,423,620 (GRCm39) missense probably benign 0.00
R8410:Or13n4 UTSW 7 106,423,745 (GRCm39) start gained probably benign
R9353:Or13n4 UTSW 7 106,423,062 (GRCm39) missense probably benign 0.00
R9386:Or13n4 UTSW 7 106,423,707 (GRCm39) missense probably benign
R9562:Or13n4 UTSW 7 106,423,020 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCAGACCCATAGTAGAGGAC -3'
(R):5'- ATGACCGGTATGTTGCTGTC -3'

Sequencing Primer
(F):5'- GGTTGAAAAGACCTTGAGCCTTCC -3'
(R):5'- GGGCATTTGCATGTTCAG -3'
Posted On 2014-10-15