Incidental Mutation 'R4970:Or52z14'
ID 384374
Institutional Source Beutler Lab
Gene Symbol Or52z14
Ensembl Gene ENSMUSG00000073944
Gene Name olfactory receptor family 52 subfamily Z member 14
Synonyms MOR31-5, Olfr619, GA_x6K02T2PBJ9-6326488-6327450
MMRRC Submission 042565-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R4970 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 103252796-103253919 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103253197 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 112 (I112T)
Ref Sequence ENSEMBL: ENSMUSP00000150630 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098196] [ENSMUST00000214883] [ENSMUST00000215732] [ENSMUST00000217603]
AlphaFold E9PV95
Predicted Effect probably damaging
Transcript: ENSMUST00000098196
AA Change: I112T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000095798
Gene: ENSMUSG00000073944
AA Change: I112T

DomainStartEndE-ValueType
Pfam:7tm_4 36 316 4.4e-106 PFAM
Pfam:7TM_GPCR_Srsx 40 265 5e-10 PFAM
Pfam:7tm_1 46 298 3.2e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214883
Predicted Effect probably damaging
Transcript: ENSMUST00000215732
AA Change: I112T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215752
Predicted Effect probably benign
Transcript: ENSMUST00000217603
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.6%
Validation Efficiency 99% (114/115)
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: 101 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700128F08Rik A G 9: 8,222,066 (GRCm39) noncoding transcript Het
Aars1 A G 8: 111,770,311 (GRCm39) M370V probably benign Het
Abca2 A G 2: 25,328,383 (GRCm39) K846R probably damaging Het
Acad9 A T 3: 36,139,674 (GRCm39) I425F probably damaging Het
Adhfe1 C A 1: 9,628,463 (GRCm39) D278E possibly damaging Het
Afg3l1 G A 8: 124,225,392 (GRCm39) V532I probably benign Het
Anks6 C T 4: 47,030,795 (GRCm39) G601S probably damaging Het
Ano7 G A 1: 93,325,085 (GRCm39) V546M possibly damaging Het
Aox1 G A 1: 58,349,254 (GRCm39) probably null Het
Asah1 G T 8: 41,813,314 (GRCm39) S33* probably null Het
Astn1 C T 1: 158,484,763 (GRCm39) S15F possibly damaging Het
Bag4 A T 8: 26,261,272 (GRCm39) Y156* probably null Het
Bmpr1b T C 3: 141,550,948 (GRCm39) E381G probably damaging Het
Btnl7-ps A G 17: 34,756,092 (GRCm39) noncoding transcript Het
Caap1 A T 4: 94,409,297 (GRCm39) probably null Het
Card10 C T 15: 78,686,580 (GRCm39) probably null Het
Ccp110 T C 7: 118,321,614 (GRCm39) V423A possibly damaging Het
Cdc123 A G 2: 5,809,748 (GRCm39) L221P possibly damaging Het
Cdh19 A G 1: 110,882,354 (GRCm39) V46A possibly damaging Het
Cfap57 A G 4: 118,477,568 (GRCm39) F12S probably damaging Het
Clvs1 A G 4: 9,350,857 (GRCm39) probably benign Het
Dgkh A T 14: 78,856,077 (GRCm39) V199E probably damaging Het
Dhx32 T A 7: 133,340,384 (GRCm39) probably benign Het
Dpf3 G T 12: 83,417,385 (GRCm39) S29* probably null Het
Efcab7 C A 4: 99,719,780 (GRCm39) S87R probably damaging Het
Fam81a G A 9: 70,000,872 (GRCm39) Q291* probably null Het
Fbxo41 G T 6: 85,454,906 (GRCm39) N667K probably damaging Het
Flacc1 T C 1: 58,698,441 (GRCm39) T326A probably benign Het
Gm10313 A T 8: 46,708,462 (GRCm39) noncoding transcript Het
Gm28051 G A 12: 102,686,430 (GRCm39) Q77* probably null Het
Gm5535 T A 2: 144,016,569 (GRCm39) noncoding transcript Het
Gtf2ird1 A T 5: 134,431,038 (GRCm39) D339E probably damaging Het
Gvin3 A T 7: 106,199,864 (GRCm39) noncoding transcript Het
Igfbp7 A G 5: 77,555,608 (GRCm39) M85T possibly damaging Het
Il20ra A G 10: 19,634,691 (GRCm39) T311A possibly damaging Het
Il24 T C 1: 130,811,179 (GRCm39) probably null Het
Itch T C 2: 155,027,513 (GRCm39) F379L possibly damaging Het
Itgad T A 7: 127,789,015 (GRCm39) V488D possibly damaging Het
Itpr2 A T 6: 146,135,489 (GRCm39) M1814K possibly damaging Het
Kirrel3 A G 9: 34,855,735 (GRCm39) E92G possibly damaging Het
Lpin2 T C 17: 71,538,329 (GRCm39) V325A probably damaging Het
Lrba C T 3: 86,132,678 (GRCm39) T28M probably benign Het
Lrch3 T C 16: 32,818,883 (GRCm39) Y661H probably damaging Het
Lrfn5 C A 12: 61,886,461 (GRCm39) S83Y probably damaging Het
Lrp1 A C 10: 127,375,389 (GRCm39) L4435R probably benign Het
Lrrn1 A G 6: 107,546,305 (GRCm39) D701G probably benign Het
Map4k3 A T 17: 80,961,332 (GRCm39) Y125N probably benign Het
Mau2 A T 8: 70,480,353 (GRCm39) H273Q possibly damaging Het
Med16 A C 10: 79,742,871 (GRCm39) probably null Het
Mmp17 A G 5: 129,679,229 (GRCm39) H376R possibly damaging Het
Nlrp12 G A 7: 3,289,613 (GRCm39) H300Y possibly damaging Het
Nlrp3 A T 11: 59,439,554 (GRCm39) Y377F probably damaging Het
Notch2 T C 3: 98,008,952 (GRCm39) probably null Het
Nudcd1 A T 15: 44,240,039 (GRCm39) C500* probably null Het
Or5d37 A G 2: 87,923,353 (GRCm39) V309A probably damaging Het
Or6b6 T A 7: 106,570,778 (GRCm39) M258L probably benign Het
Or8g23 A T 9: 38,971,827 (GRCm39) M45K probably benign Het
Or8h9 A T 2: 86,789,698 (GRCm39) Y35N probably damaging Het
Pcdhb20 T A 18: 37,639,824 (GRCm39) N783K probably benign Het
Pclo T A 5: 14,727,896 (GRCm39) probably benign Het
Pdyn T A 2: 129,530,021 (GRCm39) D216V probably damaging Het
Phldb3 A T 7: 24,324,110 (GRCm39) I495F possibly damaging Het
Pmpca A T 2: 26,285,178 (GRCm39) I468F probably damaging Het
Pmpcb G A 5: 21,961,441 (GRCm39) R399H probably damaging Het
Polrmt G T 10: 79,572,421 (GRCm39) H1145N probably damaging Het
Proser1 A G 3: 53,371,727 (GRCm39) D11G probably damaging Het
Ptprc A G 1: 138,022,037 (GRCm39) S544P probably damaging Het
Ptprn2 G A 12: 117,240,215 (GRCm39) E991K probably damaging Het
Pwp2 A C 10: 78,009,527 (GRCm39) L797R possibly damaging Het
Rbm20 G A 19: 53,840,100 (GRCm39) A1030T probably damaging Het
Rdh7 T C 10: 127,721,691 (GRCm39) Y195C probably benign Het
Rev3l T A 10: 39,699,326 (GRCm39) D1274E probably benign Het
Scfd2 G T 5: 74,366,982 (GRCm39) H639Q probably benign Het
Sell T A 1: 163,892,887 (GRCm39) H34Q possibly damaging Het
Senp8 A C 9: 59,644,504 (GRCm39) D204E probably benign Het
Setd2 A G 9: 110,377,226 (GRCm39) D347G probably benign Het
Sh2b1 T A 7: 126,067,975 (GRCm39) R560W probably damaging Het
Slc36a3 T A 11: 55,039,399 (GRCm39) K76N probably damaging Het
Slc6a9 A T 4: 117,713,205 (GRCm39) Y60F probably damaging Het
Slfn10-ps C T 11: 82,921,207 (GRCm39) noncoding transcript Het
Spata31d1d G A 13: 59,875,334 (GRCm39) H734Y probably benign Het
Spmip10 G T 18: 56,725,494 (GRCm39) M46I possibly damaging Het
Spsb1 T A 4: 149,991,612 (GRCm39) probably benign Het
Sptbn5 T A 2: 119,882,258 (GRCm39) noncoding transcript Het
Sugp2 G A 8: 70,712,462 (GRCm39) V1026I possibly damaging Het
Syt14 T A 1: 192,613,285 (GRCm39) probably benign Het
Sytl1 G A 4: 132,982,893 (GRCm39) Q373* probably null Het
Trim38 T A 13: 23,975,312 (GRCm39) L417Q probably damaging Het
Ttll1 T C 15: 83,380,597 (GRCm39) H256R probably damaging Het
Ttyh2 A T 11: 114,587,583 (GRCm39) T195S probably benign Het
Unc119b A G 5: 115,263,553 (GRCm39) L217P probably damaging Het
Usp6nl A G 2: 6,425,714 (GRCm39) K152E probably benign Het
Vcam1 T C 3: 115,910,941 (GRCm39) R486G probably benign Het
Vmn1r225 G A 17: 20,722,831 (GRCm39) G91S possibly damaging Het
Vmn2r1 A C 3: 63,997,544 (GRCm39) Q400P possibly damaging Het
Vmn2r87 A T 10: 130,314,422 (GRCm39) L388Q probably damaging Het
Wnk1 A T 6: 119,942,696 (GRCm39) probably benign Het
Zfp239 A G 6: 117,847,478 (GRCm39) probably benign Het
Zfp688 T C 7: 127,018,327 (GRCm39) Y266C probably damaging Het
Zfp850 A T 7: 27,689,658 (GRCm39) C183* probably null Het
Zscan29 T C 2: 120,999,676 (GRCm39) probably null Het
Other mutations in Or52z14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01610:Or52z14 APN 7 103,253,274 (GRCm39) missense probably benign 0.23
IGL01806:Or52z14 APN 7 103,253,548 (GRCm39) missense probably benign 0.21
IGL01934:Or52z14 APN 7 103,253,182 (GRCm39) missense probably damaging 1.00
IGL02269:Or52z14 APN 7 103,253,089 (GRCm39) missense probably damaging 0.98
IGL03049:Or52z14 APN 7 103,253,298 (GRCm39) missense probably damaging 0.99
IGL03165:Or52z14 APN 7 103,253,218 (GRCm39) missense probably damaging 0.98
IGL03338:Or52z14 APN 7 103,253,615 (GRCm39) nonsense probably null
R1378:Or52z14 UTSW 7 103,253,145 (GRCm39) nonsense probably null
R1660:Or52z14 UTSW 7 103,252,882 (GRCm39) nonsense probably null
R1975:Or52z14 UTSW 7 103,253,219 (GRCm39) splice site probably null
R1985:Or52z14 UTSW 7 103,252,879 (GRCm39) missense probably benign
R2249:Or52z14 UTSW 7 103,252,943 (GRCm39) missense probably benign 0.00
R2423:Or52z14 UTSW 7 103,253,241 (GRCm39) missense probably benign 0.14
R4005:Or52z14 UTSW 7 103,253,470 (GRCm39) missense probably damaging 1.00
R4931:Or52z14 UTSW 7 103,253,581 (GRCm39) missense probably benign 0.01
R4939:Or52z14 UTSW 7 103,253,458 (GRCm39) missense probably benign 0.12
R4942:Or52z14 UTSW 7 103,253,401 (GRCm39) missense probably benign
R4993:Or52z14 UTSW 7 103,252,863 (GRCm39) start codon destroyed probably benign 0.01
R5254:Or52z14 UTSW 7 103,252,996 (GRCm39) missense probably benign 0.19
R6001:Or52z14 UTSW 7 103,253,179 (GRCm39) missense probably damaging 1.00
R6905:Or52z14 UTSW 7 103,253,574 (GRCm39) missense probably benign
R6985:Or52z14 UTSW 7 103,252,875 (GRCm39) missense probably benign 0.00
R8253:Or52z14 UTSW 7 103,253,538 (GRCm39) missense possibly damaging 0.88
R9124:Or52z14 UTSW 7 103,252,863 (GRCm39) start codon destroyed probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GATGCACACATTTGGCTCTCC -3'
(R):5'- TGATGCTCTTCCCACAATAGG -3'

Sequencing Primer
(F):5'- TTGCTGATCTCTATTGAGCATAGTC -3'
(R):5'- GGTGAGCCTATAGACAAGAAAGATC -3'
Posted On 2016-04-27