Incidental Mutation 'PIT4531001:Or4p19'
ID 556440
Institutional Source Beutler Lab
Gene Symbol Or4p19
Ensembl Gene ENSMUSG00000081836
Gene Name olfactory receptor family 4 subfamily P member 19
Synonyms GA_x6K02T2Q125-49900552-49899623, MOR225-1, Olfr1180
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # PIT4531001 (G1)
Quality Score 175.009
Status Not validated
Chromosome 2
Chromosomal Location 88241971-88243033 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 88242104 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 299 (H299Q)
Ref Sequence ENSEMBL: ENSMUSP00000149838 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099824] [ENSMUST00000216121] [ENSMUST00000217320]
AlphaFold Q0VB29
Predicted Effect probably benign
Transcript: ENSMUST00000099824
AA Change: H299Q

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000097412
Gene: ENSMUSG00000081836
AA Change: H299Q

DomainStartEndE-ValueType
Pfam:7tm_4 26 300 2.8e-47 PFAM
Pfam:7tm_1 36 282 2.6e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000216121
AA Change: H299Q

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
Predicted Effect probably benign
Transcript: ENSMUST00000217320
AA Change: H299Q

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
Coding Region Coverage
  • 1x: 93.0%
  • 3x: 90.6%
  • 10x: 84.3%
  • 20x: 70.3%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adpgk T G 9: 59,217,600 (GRCm39) D204E probably damaging Het
Aqr C A 2: 113,961,215 (GRCm39) V682L possibly damaging Het
Bmper A T 9: 23,136,113 (GRCm39) N65Y possibly damaging Het
Calb1 T C 4: 15,900,925 (GRCm39) L171P probably damaging Het
Card11 T C 5: 140,892,415 (GRCm39) M217V probably damaging Het
Col11a2 A G 17: 34,265,412 (GRCm39) probably null Het
Dpm1 T C 2: 168,052,472 (GRCm39) T255A probably benign Het
Efhb A G 17: 53,752,803 (GRCm39) Y440H probably damaging Het
Elp2 T C 18: 24,737,170 (GRCm39) V40A probably damaging Het
Far2 A T 6: 148,076,629 (GRCm39) N491Y possibly damaging Het
Frem1 T A 4: 82,868,517 (GRCm39) H1488L probably benign Het
Frrs1l C A 4: 56,990,144 (GRCm39) R43L unknown Het
Galnt3 G A 2: 65,937,432 (GRCm39) R93C probably benign Het
Gm8225 A G 17: 26,762,363 (GRCm39) T185A possibly damaging Het
H2-Q1 T C 17: 35,539,892 (GRCm39) F54L probably benign Het
H2-Q1 A T 17: 35,540,055 (GRCm39) Q108L probably damaging Het
Hoxc12 T G 15: 102,846,855 (GRCm39) L249W probably damaging Het
Lrrc75b A T 10: 75,393,099 (GRCm39) H83Q probably damaging Het
Muc4 A T 16: 32,576,391 (GRCm39) T1964S unknown Het
Nob1 T C 8: 108,145,049 (GRCm39) D142G probably benign Het
Or2y1d T C 11: 49,321,753 (GRCm39) V150A probably benign Het
Or4p22 A T 2: 88,317,601 (GRCm39) Y175F possibly damaging Het
Or5b24 G A 19: 12,912,641 (GRCm39) D180N probably damaging Het
Or5d16 A G 2: 87,773,571 (GRCm39) Y134H probably damaging Het
Patj A T 4: 98,329,327 (GRCm39) N527I probably damaging Het
Pik3c2g A G 6: 139,805,096 (GRCm39) I543V Het
Ppp1r2 A T 16: 31,077,279 (GRCm39) N150K probably damaging Het
Prl7d1 A T 13: 27,894,161 (GRCm39) L135Q probably damaging Het
Ralgds G T 2: 28,435,226 (GRCm39) E461* probably null Het
Ramac C T 7: 81,417,327 (GRCm39) P9L possibly damaging Het
Rasa3 T A 8: 13,655,887 (GRCm39) H116L probably benign Het
Sec24d C T 3: 123,136,827 (GRCm39) P520L probably damaging Het
Sfmbt1 T G 14: 30,518,283 (GRCm39) S376A probably benign Het
Sspo A G 6: 48,458,173 (GRCm39) T3290A probably benign Het
Stk25 G A 1: 93,552,346 (GRCm39) P345S probably benign Het
Sycp2l A G 13: 41,300,148 (GRCm39) E454G probably null Het
Tecpr1 T C 5: 144,150,885 (GRCm39) K308E probably damaging Het
Thtpa C T 14: 55,332,962 (GRCm39) P16S probably damaging Het
Trim65 T A 11: 116,018,535 (GRCm39) I247F possibly damaging Het
Trpc6 T G 9: 8,610,149 (GRCm39) Y206D probably benign Het
Ttn G A 2: 76,703,307 (GRCm39) T9357I unknown Het
Ugt2b1 C A 5: 87,074,342 (GRCm39) A6S probably benign Het
Vmn1r175 A G 7: 23,508,603 (GRCm39) V8A possibly damaging Het
Vps13b T A 15: 35,878,971 (GRCm39) I2990N probably damaging Het
Xirp2 G A 2: 67,345,826 (GRCm39) R2689Q possibly damaging Het
Zfp831 T A 2: 174,488,516 (GRCm39) Y1064N possibly damaging Het
Other mutations in Or4p19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01096:Or4p19 APN 2 88,242,135 (GRCm39) missense probably damaging 0.99
R0402:Or4p19 UTSW 2 88,242,378 (GRCm39) missense probably damaging 0.99
R1196:Or4p19 UTSW 2 88,242,890 (GRCm39) missense probably damaging 1.00
R1557:Or4p19 UTSW 2 88,242,555 (GRCm39) missense possibly damaging 0.65
R1695:Or4p19 UTSW 2 88,242,444 (GRCm39) missense probably damaging 0.98
R1840:Or4p19 UTSW 2 88,242,411 (GRCm39) missense probably benign 0.08
R2014:Or4p19 UTSW 2 88,242,388 (GRCm39) missense probably benign 0.03
R2042:Or4p19 UTSW 2 88,242,546 (GRCm39) missense possibly damaging 0.81
R5241:Or4p19 UTSW 2 88,242,442 (GRCm39) missense possibly damaging 0.60
R6043:Or4p19 UTSW 2 88,242,589 (GRCm39) missense probably benign 0.01
R7023:Or4p19 UTSW 2 88,242,759 (GRCm39) missense probably damaging 1.00
R7153:Or4p19 UTSW 2 88,242,462 (GRCm39) missense probably damaging 1.00
R7269:Or4p19 UTSW 2 88,242,839 (GRCm39) missense possibly damaging 0.94
R8711:Or4p19 UTSW 2 88,242,595 (GRCm39) missense probably damaging 1.00
R8783:Or4p19 UTSW 2 88,242,951 (GRCm39) missense probably benign 0.01
R8784:Or4p19 UTSW 2 88,242,091 (GRCm39) missense probably benign 0.00
R8991:Or4p19 UTSW 2 88,242,723 (GRCm39) missense probably damaging 1.00
Z1176:Or4p19 UTSW 2 88,242,330 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGAGAGTCACGCTGAAAGAC -3'
(R):5'- AGTCGTTCCAAAGCTCTTTCAAC -3'

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