Incidental Mutation 'IGL01305:Or2z2'
ID 73397
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or2z2
Ensembl Gene ENSMUSG00000043314
Gene Name olfactory receptor family 2 subfamily Z member 2
Synonyms MOR281-1, MTPCR07, GA_x6K02T2NKPP-957001-957948, Olfr30
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # IGL01305
Quality Score
Status
Chromosome 11
Chromosomal Location 58345741-58346806 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 58346088 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 229 (M229K)
Ref Sequence ENSEMBL: ENSMUSP00000148907 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055204] [ENSMUST00000064614] [ENSMUST00000215691]
AlphaFold Q8VGD8
Predicted Effect probably damaging
Transcript: ENSMUST00000055204
AA Change: M229K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000055961
Gene: ENSMUSG00000043314
AA Change: M229K

DomainStartEndE-ValueType
Pfam:7tm_4 32 308 1.9e-53 PFAM
Pfam:7TM_GPCR_Srsx 36 252 1.7e-6 PFAM
Pfam:7tm_1 42 291 8.3e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000064614
SMART Domains Protein: ENSMUSP00000063665
Gene: ENSMUSG00000052642

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:UPAR_LY6 47 124 1.3e-6 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000215691
AA Change: M229K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco2 A G 15: 81,797,915 (GRCm39) E663G possibly damaging Het
Adam29 T A 8: 56,324,879 (GRCm39) H525L probably benign Het
Adamts6 T A 13: 104,526,590 (GRCm39) V506E probably damaging Het
Ankfy1 G A 11: 72,655,617 (GRCm39) E1101K probably damaging Het
Arap3 C T 18: 38,124,380 (GRCm39) probably null Het
Asxl3 T A 18: 22,649,503 (GRCm39) H497Q probably benign Het
Caln1 A G 5: 130,698,392 (GRCm39) E96G probably damaging Het
Cdh23 T C 10: 60,148,403 (GRCm39) T2653A probably damaging Het
Cdk5rap2 T A 4: 70,298,472 (GRCm39) I87F possibly damaging Het
Chi3l1 A G 1: 134,110,554 (GRCm39) probably benign Het
Col27a1 A G 4: 63,218,978 (GRCm39) probably benign Het
Crybg3 T A 16: 59,349,590 (GRCm39) H934L probably damaging Het
Cyp2d22 G A 15: 82,255,869 (GRCm39) T461I probably damaging Het
Dhcr24 T C 4: 106,429,475 (GRCm39) F183L possibly damaging Het
Dnajc13 T C 9: 104,107,836 (GRCm39) probably null Het
Dusp16 A T 6: 134,695,824 (GRCm39) S336T probably benign Het
F930017D23Rik T G 10: 43,480,371 (GRCm39) noncoding transcript Het
Fasl A G 1: 161,609,407 (GRCm39) V193A probably damaging Het
Fgf5 T C 5: 98,423,175 (GRCm39) Y187H probably damaging Het
Focad C A 4: 88,311,784 (GRCm39) Q1423K probably benign Het
Gabrp T C 11: 33,505,055 (GRCm39) T249A probably damaging Het
Galnt5 A T 2: 57,915,354 (GRCm39) K637* probably null Het
Gm20479 G A 7: 27,056,812 (GRCm39) R2525* probably null Het
Grm6 A T 11: 50,750,346 (GRCm39) D503V probably benign Het
Hmg20a A T 9: 56,394,934 (GRCm39) D216V probably damaging Het
Lyst C T 13: 13,852,641 (GRCm39) R2214C probably benign Het
Micu2 T A 14: 58,181,082 (GRCm39) D184V probably damaging Het
Nabp2 T A 10: 128,244,631 (GRCm39) I52F probably damaging Het
Nat8f7 A T 6: 85,684,570 (GRCm39) L90* probably null Het
Or4k47 T C 2: 111,451,546 (GRCm39) N291S probably damaging Het
Pphln1 A G 15: 93,386,985 (GRCm39) E273G probably damaging Het
Ppil1 C A 17: 29,482,862 (GRCm39) V14F possibly damaging Het
Relt A T 7: 100,500,905 (GRCm39) L28Q probably damaging Het
Rpl21 A G 5: 146,770,996 (GRCm39) probably benign Het
Rrp36 A T 17: 46,979,017 (GRCm39) probably benign Het
Skic8 C A 9: 54,635,470 (GRCm39) V44L probably damaging Het
St8sia5 G A 18: 77,342,358 (GRCm39) G320D probably damaging Het
Taf2 T C 15: 54,911,670 (GRCm39) E582G probably damaging Het
Tas2r116 T A 6: 132,832,406 (GRCm39) N2K probably benign Het
Tmem168 A T 6: 13,583,045 (GRCm39) V612E probably damaging Het
Unc79 A G 12: 102,968,130 (GRCm39) S119G probably damaging Het
Washc5 T A 15: 59,227,688 (GRCm39) K425* probably null Het
Wtap G T 17: 13,186,782 (GRCm39) T255K probably benign Het
Zfp148 T C 16: 33,277,313 (GRCm39) V134A probably benign Het
Other mutations in Or2z2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02001:Or2z2 APN 11 58,346,335 (GRCm39) missense probably benign 0.33
IGL02170:Or2z2 APN 11 58,345,906 (GRCm39) missense probably damaging 1.00
IGL02638:Or2z2 APN 11 58,345,873 (GRCm39) missense probably damaging 1.00
ANU22:Or2z2 UTSW 11 58,346,088 (GRCm39) missense probably damaging 1.00
R0502:Or2z2 UTSW 11 58,346,140 (GRCm39) missense possibly damaging 0.54
R0784:Or2z2 UTSW 11 58,346,131 (GRCm39) missense possibly damaging 0.63
R1300:Or2z2 UTSW 11 58,346,667 (GRCm39) missense probably damaging 1.00
R1451:Or2z2 UTSW 11 58,346,358 (GRCm39) missense probably benign 0.00
R1642:Or2z2 UTSW 11 58,346,664 (GRCm39) missense probably benign
R1754:Or2z2 UTSW 11 58,346,088 (GRCm39) missense probably damaging 1.00
R1854:Or2z2 UTSW 11 58,346,257 (GRCm39) missense probably damaging 1.00
R2920:Or2z2 UTSW 11 58,346,403 (GRCm39) missense probably damaging 1.00
R3160:Or2z2 UTSW 11 58,346,053 (GRCm39) missense probably damaging 1.00
R3162:Or2z2 UTSW 11 58,346,053 (GRCm39) missense probably damaging 1.00
R4791:Or2z2 UTSW 11 58,346,370 (GRCm39) missense possibly damaging 0.83
R4964:Or2z2 UTSW 11 58,346,733 (GRCm39) missense probably benign 0.05
R5433:Or2z2 UTSW 11 58,346,680 (GRCm39) missense probably damaging 0.99
R5543:Or2z2 UTSW 11 58,345,993 (GRCm39) missense probably damaging 1.00
R6649:Or2z2 UTSW 11 58,346,394 (GRCm39) missense probably damaging 0.98
R6653:Or2z2 UTSW 11 58,346,394 (GRCm39) missense probably damaging 0.98
R7388:Or2z2 UTSW 11 58,346,481 (GRCm39) missense probably damaging 1.00
R7492:Or2z2 UTSW 11 58,346,715 (GRCm39) missense probably benign 0.28
R7566:Or2z2 UTSW 11 58,346,489 (GRCm39) missense probably benign 0.02
R7567:Or2z2 UTSW 11 58,345,992 (GRCm39) missense probably damaging 1.00
R8557:Or2z2 UTSW 11 58,346,562 (GRCm39) missense probably damaging 1.00
R8777:Or2z2 UTSW 11 58,346,757 (GRCm39) nonsense probably null
R8777-TAIL:Or2z2 UTSW 11 58,346,757 (GRCm39) nonsense probably null
R8810:Or2z2 UTSW 11 58,345,936 (GRCm39) missense possibly damaging 0.54
R9139:Or2z2 UTSW 11 58,345,999 (GRCm39) missense possibly damaging 0.92
Z1177:Or2z2 UTSW 11 58,346,363 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07