Incidental Mutation 'PIT4520001:Or51t4'
ID 555179
Institutional Source Beutler Lab
Gene Symbol Or51t4
Ensembl Gene ENSMUSG00000045824
Gene Name olfactory receptor family 51 subfamily T member 4
Synonyms GA_x6K02T2PBJ9-5659738-5660748, MOR14-9, Olfr574
Accession Numbers
Essential gene? Probably non essential (E-score: 0.175) question?
Stock # PIT4520001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 102597674-102598714 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 102597921 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 83 (D83V)
Ref Sequence ENSEMBL: ENSMUSP00000095815 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052997] [ENSMUST00000211329] [ENSMUST00000213477] [ENSMUST00000216420]
AlphaFold F8VQ18
Predicted Effect probably damaging
Transcript: ENSMUST00000052997
AA Change: D83V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095815
Gene: ENSMUSG00000045824
AA Change: D83V

DomainStartEndE-ValueType
low complexity region 14 31 N/A INTRINSIC
Pfam:7tm_4 44 323 3.8e-96 PFAM
Pfam:7TM_GPCR_Srsx 48 195 1.2e-8 PFAM
Pfam:7tm_1 54 305 2e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000211329
AA Change: D73V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000213477
Predicted Effect probably benign
Transcript: ENSMUST00000216420
Coding Region Coverage
  • 1x: 93.5%
  • 3x: 91.1%
  • 10x: 86.1%
  • 20x: 75.5%
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
Adcy1 A G 11: 7,117,133 (GRCm39) N1000S probably damaging Het
Adgrb1 A G 15: 74,413,508 (GRCm39) D564G probably damaging Het
Ankmy2 A G 12: 36,207,390 (GRCm39) E12G probably benign Het
Arid1a C T 4: 133,409,227 (GRCm39) S1375N unknown Het
Atp1a2 G A 1: 172,106,941 (GRCm39) A793V probably benign Het
Atp8b1 T C 18: 64,701,251 (GRCm39) Y369C probably benign Het
Catsperg2 A G 7: 29,409,586 (GRCm39) Y536H possibly damaging Het
Ccdc178 A G 18: 22,200,470 (GRCm39) Y445H probably damaging Het
Cep170 G T 1: 176,607,765 (GRCm39) N230K unknown Het
Cftr A G 6: 18,277,842 (GRCm39) I977V probably benign Het
Chek2 A G 5: 111,011,195 (GRCm39) Y331C probably damaging Het
Chst13 A T 6: 90,286,167 (GRCm39) I265K probably benign Het
Coil T C 11: 88,872,437 (GRCm39) M266T probably benign Het
Col16a1 T A 4: 129,945,456 (GRCm39) C28S unknown Het
Col3a1 T C 1: 45,374,943 (GRCm39) probably null Het
Csmd1 C T 8: 15,956,023 (GRCm39) V3395M probably benign Het
Cyp51 A G 5: 4,151,200 (GRCm39) V143A probably damaging Het
Eif2ak1 C T 5: 143,836,027 (GRCm39) Q573* probably null Het
Eif2ak4 T A 2: 118,292,808 (GRCm39) I1344N probably damaging Het
Fhip1a G A 3: 85,579,779 (GRCm39) Q809* probably null Het
Gen1 A G 12: 11,291,509 (GRCm39) V825A probably benign Het
Gm28042 A T 2: 119,870,148 (GRCm39) K696* probably null Het
Gm4952 A G 19: 12,602,048 (GRCm39) Y152C probably benign Het
Hdac3 G A 18: 38,074,817 (GRCm39) T308I probably damaging Het
Hpx T C 7: 105,241,341 (GRCm39) T357A probably benign Het
Hscb A T 5: 110,983,851 (GRCm39) Y139N probably damaging Het
Kcnk9 T A 15: 72,384,332 (GRCm39) H282L probably benign Het
Kdm2b G A 5: 123,079,110 (GRCm39) T287M probably damaging Het
Kif19a C T 11: 114,672,034 (GRCm39) T207M probably damaging Het
Kmt2c A C 5: 25,520,664 (GRCm39) N1815K probably benign Het
Ktn1 C T 14: 47,923,774 (GRCm39) T511M probably damaging Het
Lrp1 C G 10: 127,443,843 (GRCm39) Q141H possibly damaging Het
Lrrc43 T C 5: 123,630,530 (GRCm39) V131A possibly damaging Het
Man1b1 T A 2: 25,233,282 (GRCm39) H218Q probably damaging Het
Mapk8ip2 T A 15: 89,344,900 (GRCm39) C766S probably damaging Het
Mfn1 A G 3: 32,615,695 (GRCm39) N353D probably benign Het
Mtcl1 A T 17: 66,692,907 (GRCm39) L474Q possibly damaging Het
Mtr T A 13: 12,212,871 (GRCm39) R915* probably null Het
Myh6 C A 14: 55,187,581 (GRCm39) V1263L probably benign Het
Nt5m C A 11: 59,765,415 (GRCm39) L148M probably benign Het
Or4a67 A G 2: 88,597,921 (GRCm39) V246A possibly damaging Het
Or8k21 T C 2: 86,145,142 (GRCm39) I163V possibly damaging Het
Pbrm1 T A 14: 30,789,818 (GRCm39) F811I probably damaging Het
Pcnt A G 10: 76,256,069 (GRCm39) S724P probably damaging Het
Pfdn5 C A 15: 102,237,158 (GRCm39) D98E probably benign Het
Ptprs G A 17: 56,721,980 (GRCm39) P1715S probably damaging Het
Rtkn2 T A 10: 67,823,291 (GRCm39) L65Q probably damaging Het
Scn2a G A 2: 65,518,763 (GRCm39) R379H probably damaging Het
Scn5a G T 9: 119,363,636 (GRCm39) D501E possibly damaging Het
Spn C A 7: 126,735,611 (GRCm39) G299W probably damaging Het
St6galnac1 T C 11: 116,660,175 (GRCm39) N46S probably benign Het
Stx19 A G 16: 62,642,871 (GRCm39) D229G probably benign Het
Tmc6 A T 11: 117,663,556 (GRCm39) M552K possibly damaging Het
Tnpo3 G C 6: 29,555,221 (GRCm39) D787E possibly damaging Het
Tyw5 T C 1: 57,427,674 (GRCm39) Y310C probably damaging Het
Vmn2r15 A G 5: 109,434,871 (GRCm39) F611S probably damaging Het
Vmn2r49 C T 7: 9,722,988 (GRCm39) M95I probably benign Het
Wfdc8 A G 2: 164,445,223 (GRCm39) S131P probably benign Het
Zfp407 A T 18: 84,450,545 (GRCm39) M1597K probably damaging Het
Other mutations in Or51t4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01154:Or51t4 APN 7 102,598,046 (GRCm39) missense probably damaging 1.00
IGL01732:Or51t4 APN 7 102,598,446 (GRCm39) missense probably damaging 1.00
IGL02185:Or51t4 APN 7 102,597,721 (GRCm39) missense probably damaging 0.96
PIT4382001:Or51t4 UTSW 7 102,598,656 (GRCm39) missense probably benign
R0765:Or51t4 UTSW 7 102,597,939 (GRCm39) missense probably damaging 1.00
R1616:Or51t4 UTSW 7 102,597,721 (GRCm39) missense probably damaging 0.96
R2041:Or51t4 UTSW 7 102,598,170 (GRCm39) missense probably damaging 0.98
R2079:Or51t4 UTSW 7 102,598,702 (GRCm39) missense probably benign 0.00
R2261:Or51t4 UTSW 7 102,598,464 (GRCm39) missense probably damaging 1.00
R2263:Or51t4 UTSW 7 102,598,464 (GRCm39) missense probably damaging 1.00
R2513:Or51t4 UTSW 7 102,598,700 (GRCm39) missense probably benign
R2903:Or51t4 UTSW 7 102,598,661 (GRCm39) missense probably benign 0.05
R4445:Or51t4 UTSW 7 102,598,005 (GRCm39) missense possibly damaging 0.93
R4512:Or51t4 UTSW 7 102,597,945 (GRCm39) missense probably damaging 1.00
R4513:Or51t4 UTSW 7 102,597,945 (GRCm39) missense probably damaging 1.00
R4528:Or51t4 UTSW 7 102,598,013 (GRCm39) missense probably damaging 1.00
R4904:Or51t4 UTSW 7 102,598,272 (GRCm39) missense probably damaging 1.00
R5935:Or51t4 UTSW 7 102,598,017 (GRCm39) missense probably benign 0.01
R6784:Or51t4 UTSW 7 102,597,722 (GRCm39) missense possibly damaging 0.91
R6889:Or51t4 UTSW 7 102,597,975 (GRCm39) missense possibly damaging 0.94
R7082:Or51t4 UTSW 7 102,598,455 (GRCm39) missense probably damaging 1.00
R7125:Or51t4 UTSW 7 102,598,386 (GRCm39) missense probably damaging 0.99
R7549:Or51t4 UTSW 7 102,597,798 (GRCm39) missense possibly damaging 0.92
R7564:Or51t4 UTSW 7 102,598,473 (GRCm39) missense probably damaging 1.00
R7947:Or51t4 UTSW 7 102,598,278 (GRCm39) missense probably damaging 1.00
R8460:Or51t4 UTSW 7 102,598,531 (GRCm39) nonsense probably null
R8518:Or51t4 UTSW 7 102,597,804 (GRCm39) missense probably damaging 1.00
R8859:Or51t4 UTSW 7 102,598,373 (GRCm39) missense probably damaging 1.00
R9116:Or51t4 UTSW 7 102,598,527 (GRCm39) missense possibly damaging 0.87
R9327:Or51t4 UTSW 7 102,597,687 (GRCm39) missense probably benign 0.00
R9408:Or51t4 UTSW 7 102,598,443 (GRCm39) missense probably damaging 1.00
Z1177:Or51t4 UTSW 7 102,597,959 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTCTTCAAGTCACCATGCTGATC -3'
(R):5'- ACTTCAGAGGGCTGCAGATG -3'

Sequencing Primer
(F):5'- TGCTGATCTTCAATAATACCACATCC -3'
(R):5'- CTGCAGATGGCCAAGTAGC -3'
Posted On 2019-06-07