Incidental Mutation 'IGL01610:Or52z14'
ID 91956
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or52z14
Ensembl Gene ENSMUSG00000073944
Gene Name olfactory receptor family 52 subfamily Z member 14
Synonyms MOR31-5, Olfr619, GA_x6K02T2PBJ9-6326488-6327450
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # IGL01610
Quality Score
Status
Chromosome 7
Chromosomal Location 103252796-103253919 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 103253274 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 138 (T138S)
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: T138S

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000095798
Gene: ENSMUSG00000073944
AA Change: T138S

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: T138S

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215752
Predicted Effect probably benign
Transcript: ENSMUST00000217603
Coding Region Coverage
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018A14Rik T C 18: 46,332,633 (GRCm39) probably benign Het
4921524J17Rik T C 8: 86,138,871 (GRCm39) I73V probably benign Het
4930562C15Rik T A 16: 4,669,429 (GRCm39) probably benign Het
Abca15 T A 7: 119,939,867 (GRCm39) V323D probably damaging Het
Acot10 T C 15: 20,665,781 (GRCm39) Y320C probably damaging Het
Acp6 T A 3: 97,083,036 (GRCm39) V349D possibly damaging Het
Adcy9 G T 16: 4,235,978 (GRCm39) Q478K probably damaging Het
Akap13 A G 7: 75,369,928 (GRCm39) I1843V possibly damaging Het
Akap13 A T 7: 75,397,353 (GRCm39) I2528F probably damaging Het
Akap9 G A 5: 4,082,839 (GRCm39) A1988T possibly damaging Het
Alox5 C T 6: 116,390,508 (GRCm39) V490M probably damaging Het
Aspm C T 1: 139,417,408 (GRCm39) R1537* probably null Het
Bmf G A 2: 118,379,639 (GRCm39) P46S probably benign Het
Brf1 T A 12: 112,951,703 (GRCm39) H92L probably benign Het
Chchd1 A G 14: 20,753,245 (GRCm39) N35S probably benign Het
Cntnap3 C T 13: 64,905,115 (GRCm39) G889S probably damaging Het
Col6a4 T C 9: 105,924,906 (GRCm39) probably benign Het
Crispld1 A G 1: 17,816,949 (GRCm39) probably null Het
Ddx27 T C 2: 166,863,964 (GRCm39) probably benign Het
Dennd1b A G 1: 139,097,504 (GRCm39) probably benign Het
Dennd4a T C 9: 64,814,166 (GRCm39) V1461A probably damaging Het
Drc7 C T 8: 95,804,430 (GRCm39) R843W probably damaging Het
Dync2li1 A G 17: 84,935,742 (GRCm39) E13G probably damaging Het
Egf A G 3: 129,499,909 (GRCm39) probably benign Het
Hpse2 T C 19: 43,373,228 (GRCm39) S134G probably benign Het
Hydin A G 8: 111,284,345 (GRCm39) T3206A probably benign Het
Ier5l T A 2: 30,363,966 (GRCm39) S20C probably damaging Het
Il1r1 A G 1: 40,341,560 (GRCm39) E324G probably benign Het
Kdm4b C T 17: 56,660,522 (GRCm39) probably benign Het
Lztfl1 T A 9: 123,529,156 (GRCm39) E298D probably benign Het
Myo1b A T 1: 51,815,405 (GRCm39) M647K probably damaging Het
Or13a25 C T 7: 140,247,584 (GRCm39) A128V probably damaging Het
Or5j1 G T 2: 86,878,632 (GRCm39) probably benign Het
Parvb A T 15: 84,187,666 (GRCm39) K258M probably damaging Het
Pcdhb11 T G 18: 37,556,412 (GRCm39) S581A probably benign Het
Pcnx2 C A 8: 126,566,372 (GRCm39) A1024S possibly damaging Het
Pde4a T C 9: 21,122,646 (GRCm39) probably benign Het
Pgr A T 9: 8,903,692 (GRCm39) H571L possibly damaging Het
Phf20 G T 2: 156,144,809 (GRCm39) E806* probably null Het
Pilra T A 5: 137,833,803 (GRCm39) I85F probably damaging Het
Pla2g2f C T 4: 138,480,622 (GRCm39) V125M probably damaging Het
Rb1cc1 A G 1: 6,318,705 (GRCm39) N708S probably benign Het
Resf1 C T 6: 149,230,449 (GRCm39) T1165M probably benign Het
Rnase4 A T 14: 51,342,378 (GRCm39) Y34F probably damaging Het
Ropn1 A T 16: 34,487,141 (GRCm39) I26F probably damaging Het
Rpl9-ps6 T A 19: 32,443,699 (GRCm39) T85S probably benign Het
Scaf8 C T 17: 3,246,124 (GRCm39) P738S probably damaging Het
Sec31a A T 5: 100,550,217 (GRCm39) probably benign Het
Sel1l C T 12: 91,784,064 (GRCm39) V459I probably damaging Het
Senp7 A T 16: 55,996,186 (GRCm39) D755V possibly damaging Het
Serpinb9d A T 13: 33,381,985 (GRCm39) K151N probably benign Het
Slc8a3 A G 12: 81,362,576 (GRCm39) F81S probably damaging Het
Spire2 T A 8: 124,083,502 (GRCm39) L162Q probably damaging Het
Syt17 A G 7: 118,033,216 (GRCm39) I264T possibly damaging Het
Tbl3 A T 17: 24,923,018 (GRCm39) V379D probably damaging Het
Tenm3 A T 8: 48,707,512 (GRCm39) L1762Q probably damaging Het
Trerf1 A T 17: 47,630,501 (GRCm39) noncoding transcript Het
Ttc13 T C 8: 125,403,083 (GRCm39) D552G probably damaging Het
Tuba3a G T 6: 125,255,529 (GRCm39) T382K possibly damaging Het
Vmn1r210 A T 13: 23,011,977 (GRCm39) V103E probably damaging Het
Vmn1r80 A G 7: 11,927,307 (GRCm39) H139R possibly damaging Het
Xpo7 A T 14: 70,940,670 (GRCm39) F141Y probably damaging Het
Zfp143 T A 7: 109,673,333 (GRCm39) Y143* probably null Het
Zfp207 T A 11: 80,276,796 (GRCm39) C26S probably damaging Het
Other mutations in Or52z14
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-12-09