Incidental Mutation 'IGL03338:Or52z14'
ID 417086
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: 0.064) question?
Stock # IGL03338
Quality Score
Status
Chromosome 7
Chromosomal Location 103252796-103253919 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 103253615 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 251 (C251*)
Ref Sequence ENSEMBL: ENSMUSP00000150630 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052152] [ENSMUST00000098196] [ENSMUST00000214883] [ENSMUST00000215732] [ENSMUST00000217603]
AlphaFold E9PV95
Predicted Effect probably benign
Transcript: ENSMUST00000052152
SMART Domains Protein: ENSMUSP00000061764
Gene: ENSMUSG00000045132

DomainStartEndE-ValueType
Pfam:7tm_4 33 312 1.6e-137 PFAM
Pfam:7tm_1 43 294 4.5e-19 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000098196
AA Change: C251*
SMART Domains Protein: ENSMUSP00000095798
Gene: ENSMUSG00000073944
AA Change: C251*

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 null
Transcript: ENSMUST00000215732
AA Change: C251*
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a G A 5: 8,744,153 (GRCm39) V260M probably damaging Het
Accsl T A 2: 93,686,092 (GRCm39) H575L probably benign Het
Armc3 A T 2: 19,253,512 (GRCm39) I218F possibly damaging Het
Bora C A 14: 99,310,178 (GRCm39) N502K probably damaging Het
Brd4 T A 17: 32,432,046 (GRCm39) D606V probably damaging Het
Ccdc190 T A 1: 169,757,544 (GRCm39) M1K probably null Het
Ccl25 T C 8: 4,399,898 (GRCm39) probably benign Het
Cep78 G T 19: 15,936,987 (GRCm39) T573K probably damaging Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Cntn4 C T 6: 106,632,550 (GRCm39) H525Y probably damaging Het
D630039A03Rik T C 4: 57,910,509 (GRCm39) E101G probably benign Het
Dnah2 A G 11: 69,387,403 (GRCm39) V941A probably benign Het
Exoc6b A G 6: 84,821,112 (GRCm39) I559T probably damaging Het
Fmr1 T C X: 67,731,942 (GRCm39) probably null Het
Ghr A T 15: 3,377,024 (GRCm39) C66S probably damaging Het
Hook1 C A 4: 95,886,929 (GRCm39) probably benign Het
Igsf1 T C X: 48,876,376 (GRCm39) T73A probably benign Het
Ipo8 T C 6: 148,701,755 (GRCm39) K451R probably benign Het
Irs1 A G 1: 82,266,122 (GRCm39) V698A probably benign Het
Kat2a T C 11: 100,602,301 (GRCm39) D151G probably benign Het
Lyrm1 A T 7: 119,513,469 (GRCm39) Q78L probably benign Het
Madd C T 2: 90,992,507 (GRCm39) G1012E possibly damaging Het
Mboat1 T A 13: 30,320,742 (GRCm39) D31E probably benign Het
Myh8 C A 11: 67,189,172 (GRCm39) A1116D probably damaging Het
Nop2 G A 6: 125,116,695 (GRCm39) probably null Het
Notch1 A G 2: 26,349,971 (GRCm39) S2390P probably benign Het
Or10ag57 T G 2: 87,218,470 (GRCm39) N140K probably benign Het
Or6c66b A G 10: 129,376,925 (GRCm39) D173G probably damaging Het
Pigg T C 5: 108,467,816 (GRCm39) S272P probably damaging Het
Plg A G 17: 12,637,959 (GRCm39) Y795C probably damaging Het
Polr3e A G 7: 120,536,843 (GRCm39) K335R probably benign Het
Pramel13 T A 4: 144,121,397 (GRCm39) Y209F probably benign Het
Pramel24 T C 4: 143,453,312 (GRCm39) I140T probably benign Het
Pramel28 T C 4: 143,692,411 (GRCm39) I197V probably benign Het
Pramel28 T A 4: 143,692,608 (GRCm39) Q131L probably benign Het
Prdm4 A T 10: 85,743,685 (GRCm39) M190K possibly damaging Het
Prex2 T A 1: 11,210,489 (GRCm39) F597L probably benign Het
Ranbp3l A G 15: 9,060,940 (GRCm39) E403G probably damaging Het
Rgmb C T 17: 16,027,565 (GRCm39) A385T possibly damaging Het
Scn4a T A 11: 106,211,671 (GRCm39) I1449F probably damaging Het
Slc17a9 T C 2: 180,382,311 (GRCm39) probably benign Het
Slc26a2 T C 18: 61,331,974 (GRCm39) I486V probably damaging Het
Sntn A T 14: 13,678,991 (GRCm38) D55V probably damaging Het
Snx25 T A 8: 46,498,247 (GRCm39) R595S probably benign Het
Spag11b C T 8: 19,191,426 (GRCm39) T33I probably damaging Het
Sval2 A G 6: 41,841,181 (GRCm39) I81M probably damaging Het
Tab2 A G 10: 7,795,039 (GRCm39) V481A probably damaging Het
Zfp867 G A 11: 59,355,003 (GRCm39) Q109* probably null Het
Zfp935 T C 13: 62,602,247 (GRCm39) T318A probably benign 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
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 2016-08-02