Incidental Mutation 'R7870:Or52z13'
ID 608048
Institutional Source Beutler Lab
Gene Symbol Or52z13
Ensembl Gene ENSMUSG00000073945
Gene Name olfactory receptor family 52 subfamily Z member 13
Synonyms MOR31-9, GA_x6K02T2PBJ9-6320148-6321104, Olfr618
MMRRC Submission 045922-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R7870 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 103246525-103247481 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 103247473 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 317 (C317S)
Ref Sequence ENSEMBL: ENSMUSP00000151147 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098197] [ENSMUST00000214883] [ENSMUST00000215732]
AlphaFold K7N6B3
Predicted Effect probably damaging
Transcript: ENSMUST00000098197
AA Change: C317S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000095799
Gene: ENSMUSG00000073945
AA Change: C317S

DomainStartEndE-ValueType
Pfam:7tm_4 34 314 3.1e-109 PFAM
Pfam:7TM_GPCR_Srsx 38 311 6.3e-12 PFAM
Pfam:7tm_1 44 296 8.2e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214883
AA Change: C317S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000215732
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T A 10: 100,441,505 (GRCm39) F171L probably benign Het
2410137M14Rik A T 17: 37,288,909 (GRCm39) C152S unknown Het
Alb T C 5: 90,620,488 (GRCm39) F533L possibly damaging Het
Alox12b T C 11: 69,060,135 (GRCm39) M616T possibly damaging Het
Atxn2l A G 7: 126,091,924 (GRCm39) F968L probably benign Het
Cadps2 G T 6: 23,263,641 (GRCm39) H1227Q probably benign Het
Cdh18 A T 15: 23,474,413 (GRCm39) D761V possibly damaging Het
Cdkl3 T C 11: 51,909,284 (GRCm39) probably null Het
Chrdl2 T C 7: 99,659,249 (GRCm39) L9P unknown Het
Ctr9 A G 7: 110,651,618 (GRCm39) E946G unknown Het
Cygb T A 11: 116,540,116 (GRCm39) T178S probably benign Het
Cyp2c67 A C 19: 39,597,669 (GRCm39) M443R probably damaging Het
Dnah12 A G 14: 26,578,486 (GRCm39) T3082A probably benign Het
Flnc C T 6: 29,454,306 (GRCm39) T1906I probably damaging Het
Gm14496 A G 2: 181,637,906 (GRCm39) I327V probably benign Het
Gm29106 T A 1: 118,126,885 (GRCm39) N192K possibly damaging Het
H3f3a A T 1: 180,639,490 (GRCm39) M1K probably null Het
Htt T A 5: 35,055,891 (GRCm39) W2601R possibly damaging Het
Il18r1 T A 1: 40,530,296 (GRCm39) I341K probably benign Het
Kcnj1 G A 9: 32,307,881 (GRCm39) V102I probably benign Het
Lrp3 C A 7: 34,910,922 (GRCm39) G41V probably damaging Het
Lrrc9 G T 12: 72,532,964 (GRCm39) K944N probably damaging Het
Mettl21e T A 1: 44,249,371 (GRCm39) E95V probably damaging Het
Mib1 G A 18: 10,798,446 (GRCm39) R769Q possibly damaging Het
Myh7 C G 14: 55,226,258 (GRCm39) D461H probably damaging Het
Mymk A G 2: 26,952,298 (GRCm39) S190P probably damaging Het
Neb G A 2: 52,215,761 (GRCm39) P182L probably damaging Het
Nfil3 A G 13: 53,122,449 (GRCm39) Y152H probably damaging Het
Nisch A G 14: 30,894,052 (GRCm39) Y1174H probably damaging Het
Nyap1 G C 5: 137,733,658 (GRCm39) Y458* probably null Het
Or4d5 A C 9: 40,011,973 (GRCm39) V271G possibly damaging Het
Or5h17 G A 16: 58,820,086 (GRCm39) V13I probably benign Het
Pars2 T A 4: 106,511,276 (GRCm39) Y353N probably damaging Het
Patj G T 4: 98,312,553 (GRCm39) G297V probably damaging Het
Pcdh9 A T 14: 94,124,693 (GRCm39) S492R probably damaging Het
Pcyox1 G A 6: 86,369,323 (GRCm39) R168C probably damaging Het
Plbd1 A T 6: 136,594,326 (GRCm39) Y308N possibly damaging Het
Rax A G 18: 66,071,284 (GRCm39) V117A probably benign Het
Rdh9 C A 10: 127,612,566 (GRCm39) N71K probably benign Het
Sap130 A G 18: 31,853,714 (GRCm39) N968S probably benign Het
Sema5a A T 15: 32,609,485 (GRCm39) I464F probably benign Het
Sez6l T G 5: 112,586,447 (GRCm39) D683A probably damaging Het
Slit2 C A 5: 48,459,649 (GRCm39) P1310T probably damaging Het
Snap47 T C 11: 59,328,904 (GRCm39) M133V probably benign Het
Son TACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCACCATGGACTCCCAGATGTTAGC TACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCACCATGGACTCCCAGATGTTAGC 16: 91,453,486 (GRCm39) probably benign Het
Srcap G A 7: 127,159,730 (GRCm39) S3202N unknown Het
Ssh2 T C 11: 77,344,441 (GRCm39) W809R probably benign Het
Stau1 G T 2: 166,792,870 (GRCm39) A365D possibly damaging Het
Tfpi2 A G 6: 3,968,281 (GRCm39) L15P probably damaging Het
Thbs1 A T 2: 117,945,508 (GRCm39) N329I possibly damaging Het
Tmem65 A T 15: 58,659,010 (GRCm39) D184E probably damaging Het
Trpm6 G T 19: 18,792,605 (GRCm39) E676D probably benign Het
Vdr T G 15: 97,782,771 (GRCm39) D17A possibly damaging Het
Vmn1r123 C T 7: 20,896,192 (GRCm39) T28I probably damaging Het
Wdr90 A G 17: 26,079,513 (GRCm39) L207P probably damaging Het
Zfp354c TGTCACACTCG TG 11: 50,706,065 (GRCm39) probably benign Het
Zfp598 A G 17: 24,898,304 (GRCm39) E402G probably damaging Het
Other mutations in Or52z13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00926:Or52z13 APN 7 103,247,369 (GRCm39) missense possibly damaging 0.65
IGL00963:Or52z13 APN 7 103,246,844 (GRCm39) splice site probably null
IGL01772:Or52z13 APN 7 103,247,120 (GRCm39) missense probably benign 0.12
IGL02014:Or52z13 APN 7 103,246,937 (GRCm39) missense probably damaging 1.00
IGL03409:Or52z13 APN 7 103,246,574 (GRCm39) missense possibly damaging 0.51
R0087:Or52z13 UTSW 7 103,246,928 (GRCm39) missense probably benign 0.44
R0831:Or52z13 UTSW 7 103,247,338 (GRCm39) missense probably benign 0.02
R1779:Or52z13 UTSW 7 103,247,107 (GRCm39) missense probably damaging 1.00
R1909:Or52z13 UTSW 7 103,246,550 (GRCm39) missense probably benign 0.01
R5903:Or52z13 UTSW 7 103,247,128 (GRCm39) nonsense probably null
R5952:Or52z13 UTSW 7 103,247,174 (GRCm39) missense probably damaging 1.00
R6328:Or52z13 UTSW 7 103,247,073 (GRCm39) missense probably damaging 1.00
R7264:Or52z13 UTSW 7 103,246,955 (GRCm39) missense probably damaging 0.97
R7573:Or52z13 UTSW 7 103,246,735 (GRCm39) missense probably benign 0.08
R8394:Or52z13 UTSW 7 103,247,404 (GRCm39) missense probably damaging 1.00
R8833:Or52z13 UTSW 7 103,247,444 (GRCm39) missense possibly damaging 0.75
R9563:Or52z13 UTSW 7 103,247,225 (GRCm39) missense probably benign
R9601:Or52z13 UTSW 7 103,246,598 (GRCm39) missense probably benign 0.20
Predicted Primers PCR Primer
(F):5'- TACATGTGGCTCCCATGTCTG -3'
(R):5'- TGGAACAGATATTAAGCCATCCTC -3'

Sequencing Primer
(F):5'- GGCTCCCATGTCTGTGTCATC -3'
(R):5'- TATTAAGCCATCCTCAGACAACTAAG -3'
Posted On 2019-12-20