Incidental Mutation 'R7008:Or4z4'
ID 544865
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 045110-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R7008 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 12076066-12077001 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 12076214 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 263 (T263I)
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: T263I

PolyPhen 2 Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000085127
Gene: ENSMUSG00000067525
AA Change: T263I

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: T263I

PolyPhen 2 Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216069
AA Change: T263I

PolyPhen 2 Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd17 T A 5: 90,407,955 (GRCm39) I1421F possibly damaging Het
Arhgef11 C A 3: 87,636,525 (GRCm39) T992K possibly damaging Het
Arid1b T C 17: 5,341,254 (GRCm39) Y853H probably damaging Het
Bcl10 G T 3: 145,639,054 (GRCm39) R232L probably benign Het
Best2 T A 8: 85,739,840 (GRCm39) I76F possibly damaging Het
Card11 G C 5: 140,859,148 (GRCm39) R1133G probably damaging Het
Card9 T C 2: 26,247,811 (GRCm39) D180G possibly damaging Het
Ccdc162 T A 10: 41,428,411 (GRCm39) E119V probably damaging Het
Ccdc168 T C 1: 44,098,785 (GRCm39) D771G probably benign Het
Cd2bp2 T C 7: 126,794,567 (GRCm39) D15G possibly damaging Het
Cdk7 A C 13: 100,854,129 (GRCm39) M120R probably damaging Het
Cryba4 T A 5: 112,399,648 (GRCm39) T2S probably benign Het
Cyp19a1 A T 9: 54,100,609 (GRCm39) M26K probably benign Het
Dgcr2 A G 16: 17,662,865 (GRCm39) S157P probably damaging Het
Dis3l A G 9: 64,217,735 (GRCm39) F782S possibly damaging Het
Ephb4 T A 5: 137,359,536 (GRCm39) S369T probably benign Het
Fhad1 CGG CG 4: 141,645,602 (GRCm39) probably null Het
H1f4 T C 13: 23,806,192 (GRCm39) K97E probably damaging Het
Igf2bp2 A T 16: 21,900,582 (GRCm39) D118E probably benign Het
Iqgap3 GGAGAG GGAG 3: 88,020,078 (GRCm39) probably null Het
Klhl5 T C 5: 65,300,592 (GRCm39) S52P probably benign Het
Lrrc28 A T 7: 67,245,459 (GRCm39) probably benign Het
Map4k4 T G 1: 40,028,131 (GRCm39) D317E probably benign Het
Maz A T 7: 126,623,784 (GRCm39) C66S probably damaging Het
Mbd4 T C 6: 115,827,685 (GRCm39) T43A possibly damaging Het
Milr1 T A 11: 106,642,140 (GRCm39) S11T probably damaging Het
Mthfd2l T A 5: 91,107,587 (GRCm39) C150S probably damaging Het
Nemf A T 12: 69,388,395 (GRCm39) N325K possibly damaging Het
Nemf C T 12: 69,400,567 (GRCm39) probably null Het
Nod2 T A 8: 89,390,285 (GRCm39) C197* probably null Het
Odf2l A G 3: 144,838,495 (GRCm39) K241E probably damaging Het
Or5b124 A T 19: 13,610,985 (GRCm39) N170I probably damaging Het
Osbpl10 T G 9: 114,890,916 (GRCm39) D101E probably damaging Het
Osgin1 T C 8: 120,168,233 (GRCm39) V20A possibly damaging Het
Pan3 T A 5: 147,482,503 (GRCm39) C438S probably damaging Het
Plaa A G 4: 94,457,586 (GRCm39) *795Q probably null Het
Prss35 T C 9: 86,638,361 (GRCm39) V377A probably benign Het
Rab5c G A 11: 100,610,789 (GRCm39) R40C probably damaging Het
Rasl12 G A 9: 65,318,151 (GRCm39) V172M probably damaging Het
Rdh16f1 A G 10: 127,626,775 (GRCm39) H276R probably benign Het
Runx2 G A 17: 45,125,079 (GRCm39) P80L probably damaging Het
Sez6l T C 5: 112,612,561 (GRCm39) Y460C probably damaging Het
Sipa1l1 T G 12: 82,409,886 (GRCm39) M600R probably damaging Het
Slc11a2 T C 15: 100,307,205 (GRCm39) Y92C probably damaging Het
Slc4a10 A G 2: 62,117,266 (GRCm39) T712A probably benign Het
Sntb1 A T 15: 55,655,468 (GRCm39) Y249* probably null Het
Spatc1 A G 15: 76,167,923 (GRCm39) I127M probably benign Het
Sting1 C A 18: 35,868,224 (GRCm39) R292L probably damaging Het
Synj1 A T 16: 90,790,833 (GRCm39) N109K probably damaging Het
Tdg T A 10: 82,484,475 (GRCm39) M396K possibly damaging Het
Tmem252 T C 19: 24,651,656 (GRCm39) V75A probably damaging Het
Trim40 T C 17: 37,194,868 (GRCm39) Q142R probably damaging Het
Trip6 T C 5: 137,311,228 (GRCm39) T163A probably damaging Het
Ttn T C 2: 76,724,986 (GRCm39) probably benign Het
Wdr95 T C 5: 149,535,005 (GRCm39) L721P probably benign Het
Zfp385c A T 11: 100,521,513 (GRCm39) D182E probably damaging Het
Zfp597 A G 16: 3,683,631 (GRCm39) F375S probably benign Het
Zfp658 T G 7: 43,223,336 (GRCm39) F537C possibly damaging Het
Zgrf1 T C 3: 127,355,421 (GRCm39) F216L probably benign 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
R5509:Or4z4 UTSW 19 12,076,341 (GRCm39) missense possibly damaging 0.94
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
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'- AGATGTTTCCCTTTTCCACAGTAAG -3'
(R):5'- TGACACCTTTGTTCTCGAGC -3'

Sequencing Primer
(F):5'- CCCTTTTCCACAGTAAGTAATGAAGC -3'
(R):5'- AATGGCCTGATCACTACGCTATGG -3'
Posted On 2019-05-13