Incidental Mutation 'R4939:Or52z14'
ID 382925
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 042538-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R4939 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 103252796-103253919 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103253458 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 199 (V199A)
Ref Sequence ENSEMBL: ENSMUSP00000150630 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098196] [ENSMUST00000214883] [ENSMUST00000215732] [ENSMUST00000217603]
AlphaFold E9PV95
Predicted Effect probably benign
Transcript: ENSMUST00000098196
AA Change: V199A

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000095798
Gene: ENSMUSG00000073944
AA Change: V199A

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 benign
Transcript: ENSMUST00000215732
AA Change: V199A

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215752
Predicted Effect probably benign
Transcript: ENSMUST00000217603
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 A T 4: 86,161,962 (GRCm39) Y365F possibly damaging Het
Atp2a1 T C 7: 126,049,288 (GRCm39) M585V probably benign Het
Brca1 A G 11: 101,398,876 (GRCm39) V1572A probably benign Het
C1ql4 A T 15: 98,985,521 (GRCm39) M30K probably damaging Het
Ccdc73 A G 2: 104,822,502 (GRCm39) probably null Het
Cdk6 A T 5: 3,394,377 (GRCm39) D4V probably null Het
Celf3 ACAGCAGCAGCAGCAGCAGCAGCA ACAGCAGCAGCAGCAGCAGCA 3: 94,395,537 (GRCm39) probably benign Het
Clic4 T C 4: 134,950,852 (GRCm39) E113G probably benign Het
Creld1 C A 6: 113,465,140 (GRCm39) H122Q probably benign Het
Cyp4a29 G A 4: 115,104,873 (GRCm39) probably null Het
Dnaaf3 A T 7: 4,530,144 (GRCm39) S246R probably damaging Het
Dnah12 A T 14: 26,613,481 (GRCm39) T3925S probably damaging Het
Dnajc21 T A 15: 10,449,683 (GRCm39) D446V probably damaging Het
Dock8 A T 19: 25,099,764 (GRCm39) Y629F probably damaging Het
Duxf4 T C 10: 58,071,425 (GRCm39) N263S probably benign Het
E2f8 A T 7: 48,521,886 (GRCm39) N405K probably benign Het
Flg A G 3: 93,187,154 (GRCm39) N202S probably benign Het
Glyatl3 A G 17: 41,220,914 (GRCm39) probably null Het
Gm38999 A G 7: 43,077,885 (GRCm39) T63A possibly damaging Het
Grap A G 11: 61,551,124 (GRCm39) Y52C probably damaging Het
Haus2 T A 2: 120,449,517 (GRCm39) I187K probably damaging Het
Heatr5b T C 17: 79,069,689 (GRCm39) E1686G probably benign Het
Herc2 A G 7: 55,856,484 (GRCm39) D3944G probably damaging Het
Hexd A T 11: 121,098,542 (GRCm39) M9L probably benign Het
Hoxa3 T C 6: 52,147,656 (GRCm39) probably benign Het
Hspg2 A T 4: 137,235,342 (GRCm39) I126F probably damaging Het
Itpr1 T A 6: 108,417,519 (GRCm39) C123* probably null Het
Jmjd1c T A 10: 67,081,916 (GRCm39) N2346K possibly damaging Het
Kctd9 A G 14: 67,967,135 (GRCm39) Y37C probably damaging Het
Kmt5b A C 19: 3,865,245 (GRCm39) S747R possibly damaging Het
Krt26 T C 11: 99,225,522 (GRCm39) M320V probably benign Het
Lama1 T G 17: 68,044,470 (GRCm39) V123G possibly damaging Het
Lamc2 T C 1: 153,002,582 (GRCm39) D1103G probably damaging Het
Lepr A T 4: 101,590,635 (GRCm39) K71I possibly damaging Het
Llgl1 A T 11: 60,600,805 (GRCm39) probably null Het
Mcoln2 A T 3: 145,897,996 (GRCm39) H39L probably benign Het
Mtrex T C 13: 113,046,426 (GRCm39) D308G possibly damaging Het
Myh11 T A 16: 14,057,371 (GRCm39) T315S probably benign Het
Ncapd3 T C 9: 26,975,165 (GRCm39) probably null Het
Nlrp9b G T 7: 19,758,421 (GRCm39) V553F probably damaging Het
Nubpl A G 12: 52,227,878 (GRCm39) N129S probably damaging Het
Nup214 C A 2: 31,873,171 (GRCm39) T255K probably benign Het
Or10j3 T C 1: 173,031,030 (GRCm39) Y36H possibly damaging Het
Or2t46 G T 11: 58,472,037 (GRCm39) M122I probably damaging Het
Or2y17 A G 11: 49,231,376 (GRCm39) T6A probably benign Het
Or4d1 G T 11: 87,804,950 (GRCm39) P261T probably damaging Het
Or5b3 T A 19: 13,388,219 (GRCm39) N95K probably benign Het
Orc3 G A 4: 34,593,126 (GRCm39) Q256* probably null Het
Pbrm1 A G 14: 30,783,580 (GRCm39) M566V probably damaging Het
Pde6b A G 5: 108,569,363 (GRCm39) I357V probably benign Het
Pkdrej A G 15: 85,704,484 (GRCm39) I484T possibly damaging Het
Plvap A G 8: 71,964,083 (GRCm39) V93A probably benign Het
Plxna4 T C 6: 32,142,697 (GRCm39) Y1586C probably damaging Het
Ppfia4 A T 1: 134,255,817 (GRCm39) L196Q possibly damaging Het
Ptpn13 T G 5: 103,665,335 (GRCm39) probably null Het
Ranbp17 T C 11: 33,169,223 (GRCm39) N997S probably benign Het
Rpap2 G T 5: 107,751,491 (GRCm39) probably null Het
Rrm1 T C 7: 102,116,131 (GRCm39) V683A probably benign Het
Ruvbl1 A G 6: 88,460,021 (GRCm39) probably null Het
Sh3pxd2a A G 19: 47,266,843 (GRCm39) Y277H probably damaging Het
Shank1 C T 7: 43,975,586 (GRCm39) P477S unknown Het
Shtn1 T C 19: 59,010,633 (GRCm39) E278G probably benign Het
Skap2 T A 6: 51,899,303 (GRCm39) I109F possibly damaging Het
Slc28a3 A C 13: 58,706,395 (GRCm39) I615M probably benign Het
Slc4a11 A G 2: 130,526,788 (GRCm39) L780P probably damaging Het
Slc5a4b T C 10: 75,917,301 (GRCm39) E245G probably benign Het
Slfn8 C T 11: 82,894,111 (GRCm39) A843T probably benign Het
Sncaip A T 18: 53,040,335 (GRCm39) Q843L possibly damaging Het
Spidr T A 16: 15,958,610 (GRCm39) K51* probably null Het
Spopfm2 A T 3: 94,083,540 (GRCm39) Y90* probably null Het
Tas2r123 T C 6: 132,824,808 (GRCm39) V235A probably benign Het
Tgfbr3 T C 5: 107,278,335 (GRCm39) D757G probably benign Het
Tmem132d A T 5: 127,873,139 (GRCm39) V490D probably damaging Het
Top2a T A 11: 98,900,918 (GRCm39) H557L probably damaging Het
Trafd1 A G 5: 121,513,254 (GRCm39) I328T probably benign Het
Trappc11 G A 8: 47,972,700 (GRCm39) A291V probably damaging Het
Tuba1c A G 15: 98,935,835 (GRCm39) Y432C probably damaging Het
Utp11 T G 4: 124,577,043 (GRCm39) R109S possibly damaging Het
Vmn1r159 T G 7: 22,542,316 (GRCm39) T239P probably damaging Het
Vwce A T 19: 10,622,414 (GRCm39) N239Y probably damaging Het
Yes1 T C 5: 32,802,457 (GRCm39) probably null Het
Zfand6 A C 7: 84,265,030 (GRCm39) *224G probably null Het
Zfp408 A T 2: 91,475,450 (GRCm39) I668N probably damaging Het
Zfp647 TGCACG TGCACGCACG 15: 76,795,244 (GRCm39) probably null Het
Zfp946 T C 17: 22,674,418 (GRCm39) F391L probably damaging 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
R4942:Or52z14 UTSW 7 103,253,401 (GRCm39) missense probably benign
R4970:Or52z14 UTSW 7 103,253,197 (GRCm39) missense probably damaging 0.98
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'- CCCCATCTGTCATCATCAAAATGG -3'
(R):5'- CAGTGGTATGCTGTCACCTC -3'

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