Incidental Mutation 'R5509:Or4z4'
ID 431109
Institutional Source Beutler Lab
Gene Symbol Or4z4
Ensembl Gene ENSMUSG00000067525
Gene Name olfactory receptor family 4 subfamily Z member 4
Synonyms MOR239-4, Olfr1427, GA_x6K02T2RE5P-2458473-2457538
MMRRC Submission 043070-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R5509 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 12076066-12077001 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 12076341 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 221 (I221F)
Ref Sequence ENSEMBL: ENSMUSP00000150457 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087825] [ENSMUST00000215374] [ENSMUST00000216069]
AlphaFold Q8VFU9
Predicted Effect possibly damaging
Transcript: ENSMUST00000087825
AA Change: I221F

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000085127
Gene: ENSMUSG00000067525
AA Change: I221F

DomainStartEndE-ValueType
Pfam:7tm_4 31 304 1.4e-47 PFAM
Pfam:7tm_1 41 304 6.8e-21 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000215374
AA Change: I221F

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216069
AA Change: I221F

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216845
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.4%
  • 10x: 95.5%
  • 20x: 91.6%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 G C 17: 46,635,185 (GRCm39) Q273E probably benign Het
Acly C T 11: 100,405,805 (GRCm39) R329Q probably damaging Het
Acsm2 T C 7: 119,172,840 (GRCm39) S152P probably damaging Het
Adamtsl4 A T 3: 95,588,667 (GRCm39) I515N probably benign Het
Ank3 G A 10: 69,838,395 (GRCm39) R1566K possibly damaging Het
Atp9a T C 2: 168,481,857 (GRCm39) D879G probably damaging Het
Bmp8b G A 4: 123,008,369 (GRCm39) D112N possibly damaging Het
Camk2d T C 3: 126,633,965 (GRCm39) W496R probably damaging Het
Ccdc192 G A 18: 57,671,156 (GRCm39) probably null Het
Cflar T C 1: 58,791,551 (GRCm39) F285L probably benign Het
Cox16 T C 12: 81,519,032 (GRCm39) T176A probably benign Het
Cux1 G T 5: 136,304,171 (GRCm39) A1214D probably benign Het
Cyb5d1 C A 11: 69,284,561 (GRCm39) probably null Het
Dennd6b G A 15: 89,069,225 (GRCm39) P575S probably damaging Het
Fbxl2 A T 9: 113,814,415 (GRCm39) probably null Het
Gfpt2 T C 11: 49,717,973 (GRCm39) F483L possibly damaging Het
Glrx3 T C 7: 137,046,751 (GRCm39) C48R probably damaging Het
Invs G A 4: 48,396,337 (GRCm39) V281M probably damaging Het
Kif13a G A 13: 46,905,591 (GRCm39) A784V probably benign Het
Kmt2d T C 15: 98,737,557 (GRCm39) probably benign Het
Lmod2 A G 6: 24,603,888 (GRCm39) T288A probably damaging Het
Lrrc37a T C 11: 103,391,361 (GRCm39) K1355E probably benign Het
Magi3 A T 3: 103,922,818 (GRCm39) S1300T probably benign Het
Mdm2 A C 10: 117,526,517 (GRCm39) D307E probably damaging Het
Mllt6 G A 11: 97,560,326 (GRCm39) S210N possibly damaging Het
Mroh4 T C 15: 74,478,003 (GRCm39) Y901C probably benign Het
Mtmr14 G T 6: 113,230,768 (GRCm39) probably null Het
Mug2 A T 6: 122,061,340 (GRCm39) Q1420L possibly damaging Het
Net1 T C 13: 3,934,320 (GRCm39) Q459R probably benign Het
Nle1 T C 11: 82,794,008 (GRCm39) R343G possibly damaging Het
Npat C A 9: 53,481,542 (GRCm39) N1083K probably benign Het
Nrp1 G A 8: 129,152,396 (GRCm39) G202R possibly damaging Het
Nsun4 C T 4: 115,908,974 (GRCm39) V529I possibly damaging Het
Or4b1d T A 2: 89,969,236 (GRCm39) L82F probably damaging Het
Or5b117 A T 19: 13,431,332 (GRCm39) L183Q probably damaging Het
Or8g21 T C 9: 38,905,924 (GRCm39) D269G probably benign Het
Podxl A T 6: 31,503,548 (GRCm39) N264K probably benign Het
Ptprm C T 17: 66,996,353 (GRCm39) A1245T probably damaging Het
Rdh12 T A 12: 79,257,558 (GRCm39) probably null Het
Ryr2 T A 13: 11,760,487 (GRCm39) Y1532F probably damaging Het
Senp2 T C 16: 21,859,272 (GRCm39) F441S probably damaging Het
Snap23 C A 2: 120,425,346 (GRCm39) P111T probably benign Het
Sox2 A G 3: 34,704,938 (GRCm39) D125G probably damaging Het
Syne2 T C 12: 75,968,018 (GRCm39) W923R probably damaging Het
Tbc1d2b T C 9: 90,101,022 (GRCm39) E656G probably damaging Het
Tbcd A G 11: 121,492,838 (GRCm39) T892A probably benign Het
Tg A G 15: 66,699,142 (GRCm39) I24V probably benign Het
Trpm3 A T 19: 22,964,622 (GRCm39) K1372N probably damaging Het
Ubc A T 5: 125,464,339 (GRCm39) N329K probably benign Het
Vmn2r106 T A 17: 20,498,684 (GRCm39) H409L probably damaging Het
Wdfy3 T A 5: 102,009,314 (GRCm39) N2751Y possibly damaging Het
Zfp518a T A 19: 40,903,845 (GRCm39) I1258K possibly damaging Het
Zfp91 T C 19: 12,756,451 (GRCm39) E131G probably damaging Het
Zfyve26 T A 12: 79,293,295 (GRCm39) R2027W probably damaging Het
Other mutations in Or4z4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01322:Or4z4 APN 19 12,076,769 (GRCm39) missense probably benign 0.00
IGL01520:Or4z4 APN 19 12,077,000 (GRCm39) start codon destroyed probably null 0.98
IGL01768:Or4z4 APN 19 12,076,403 (GRCm39) missense probably damaging 1.00
IGL02060:Or4z4 APN 19 12,076,824 (GRCm39) missense probably damaging 1.00
IGL02328:Or4z4 APN 19 12,076,146 (GRCm39) missense probably damaging 1.00
R0346:Or4z4 UTSW 19 12,076,803 (GRCm39) missense probably damaging 0.96
R1264:Or4z4 UTSW 19 12,076,198 (GRCm39) missense probably benign 0.42
R1702:Or4z4 UTSW 19 12,076,530 (GRCm39) missense probably benign 0.25
R1709:Or4z4 UTSW 19 12,076,245 (GRCm39) missense probably damaging 1.00
R4781:Or4z4 UTSW 19 12,076,731 (GRCm39) missense probably benign 0.01
R4821:Or4z4 UTSW 19 12,076,110 (GRCm39) missense probably benign 0.00
R5668:Or4z4 UTSW 19 12,076,290 (GRCm39) missense probably damaging 0.99
R6156:Or4z4 UTSW 19 12,076,484 (GRCm39) missense possibly damaging 0.87
R6619:Or4z4 UTSW 19 12,076,727 (GRCm39) missense probably damaging 0.99
R6950:Or4z4 UTSW 19 12,076,754 (GRCm39) missense probably benign 0.00
R7008:Or4z4 UTSW 19 12,076,214 (GRCm39) missense possibly damaging 0.68
R7991:Or4z4 UTSW 19 12,076,190 (GRCm39) missense possibly damaging 0.90
R9100:Or4z4 UTSW 19 12,076,254 (GRCm39) missense probably benign 0.06
R9301:Or4z4 UTSW 19 12,076,826 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- ATTGGGTTCAGGACAGGAAC -3'
(R):5'- GGCTTTGTCCACTCAATTGTG -3'

Sequencing Primer
(F):5'- GGACAGGAACAATTATATTTAGGGTG -3'
(R):5'- GTCCACTCAATTGTGCAGATC -3'
Posted On 2016-10-05