Incidental Mutation 'R1978:Or6p1'
ID 221937
Institutional Source Beutler Lab
Gene Symbol Or6p1
Ensembl Gene ENSMUSG00000051509
Gene Name olfactory receptor family 6 subfamily P member 1
Synonyms MOR103-10, Olfr414, GA_x6K02T2P20D-20749615-20748662
MMRRC Submission 039991-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R1978 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 174257996-174258950 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 174258657 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 221 (I221N)
Ref Sequence ENSEMBL: ENSMUSP00000142051 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053178] [ENSMUST00000192358]
AlphaFold E9Q5P8
Predicted Effect probably damaging
Transcript: ENSMUST00000053178
AA Change: I221N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000052426
Gene: ENSMUSG00000051509
AA Change: I221N

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 2.8e-53 PFAM
Pfam:7tm_1 41 290 8.3e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000192358
AA Change: I221N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000142051
Gene: ENSMUSG00000051509
AA Change: I221N

DomainStartEndE-ValueType
Pfam:7tm_1 41 290 2.9e-29 PFAM
Pfam:7tm_4 139 283 1.1e-45 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.9%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik T A 5: 64,055,880 (GRCm39) C205* probably null Het
4921539E11Rik T A 4: 103,127,961 (GRCm39) T55S possibly damaging Het
Akap12 A G 10: 4,263,855 (GRCm39) D88G probably benign Het
Ankrd53 C A 6: 83,740,185 (GRCm39) F84L probably damaging Het
Apol7b A C 15: 77,307,539 (GRCm39) F319V probably damaging Het
Bsn A G 9: 107,991,748 (GRCm39) S1335P probably benign Het
Cep192 T C 18: 67,936,228 (GRCm39) probably null Het
Cfap57 A G 4: 118,450,329 (GRCm39) S598P probably benign Het
Commd8 T C 5: 72,322,842 (GRCm39) H25R probably damaging Het
Crisp4 T C 1: 18,198,889 (GRCm39) I143V probably benign Het
Cyp4a12b A T 4: 115,295,342 (GRCm39) T483S probably benign Het
Dbx2 C T 15: 95,530,234 (GRCm39) M244I probably damaging Het
Dnah6 T G 6: 73,098,953 (GRCm39) H1982P possibly damaging Het
Fam220a C A 5: 143,548,882 (GRCm39) P98Q probably damaging Het
Ggnbp1 A G 17: 27,248,517 (GRCm39) K29E possibly damaging Het
Gm14569 A C X: 35,695,781 (GRCm39) M976R probably benign Het
Hck G T 2: 152,971,776 (GRCm39) W112C probably damaging Het
Heatr5a A T 12: 51,986,441 (GRCm39) S591T possibly damaging Het
Hhat A G 1: 192,399,415 (GRCm39) S242P probably benign Het
Hnrnpll A G 17: 80,351,947 (GRCm39) S333P probably benign Het
Hoxc6 T C 15: 102,918,439 (GRCm39) probably null Het
Inpp5j G A 11: 3,452,150 (GRCm39) P367S probably damaging Het
Lamc2 A G 1: 153,009,343 (GRCm39) probably null Het
Loxhd1 T A 18: 77,409,338 (GRCm39) I194N possibly damaging Het
Miga1 CCAGGGCAG CCAG 3: 152,040,941 (GRCm39) probably null Het
Mkln1 C T 6: 31,467,465 (GRCm39) Q60* probably null Het
Muc21 T A 17: 35,933,857 (GRCm39) probably benign Het
Mybph C A 1: 134,124,734 (GRCm39) H185N probably benign Het
Myo1g T C 11: 6,470,829 (GRCm39) D9G possibly damaging Het
Myo6 A T 9: 80,136,207 (GRCm39) D110V probably damaging Het
Ncoa7 A G 10: 30,567,295 (GRCm39) V412A probably benign Het
Neb T C 2: 52,177,357 (GRCm39) K1328R probably damaging Het
Olfm5 T A 7: 103,813,948 (GRCm39) Q22L unknown Het
Or10ak7 A T 4: 118,791,381 (GRCm39) Y221* probably null Het
Or4d11 T C 19: 12,013,705 (GRCm39) T134A probably benign Het
Or5j1 C T 2: 86,879,179 (GRCm39) V134M possibly damaging Het
Or6b3 C A 1: 92,439,499 (GRCm39) G84C probably damaging Het
Or7a39 A G 10: 78,715,114 (GRCm39) Y36C probably damaging Het
P3h1 A T 4: 119,105,173 (GRCm39) Q717L probably null Het
Pclo T C 5: 14,763,809 (GRCm39) I4094T unknown Het
Pfdn6 G A 17: 34,158,051 (GRCm39) R73W probably benign Het
Phyhipl A C 10: 70,395,591 (GRCm39) M205R possibly damaging Het
Pitpnm1 C T 19: 4,157,973 (GRCm39) probably null Het
Plcg1 A G 2: 160,594,498 (GRCm39) probably null Het
Pnldc1 A G 17: 13,125,392 (GRCm39) S81P possibly damaging Het
Pno1 T C 11: 17,154,519 (GRCm39) I221V possibly damaging Het
Porcn A G X: 8,070,540 (GRCm39) V75A probably damaging Het
Prkcg T A 7: 3,353,862 (GRCm39) C69S probably damaging Het
Rbbp6 G T 7: 122,598,711 (GRCm39) probably benign Het
Resf1 T A 6: 149,227,930 (GRCm39) N325K probably benign Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Scly A G 1: 91,247,891 (GRCm39) D413G probably damaging Het
Scn11a G A 9: 119,609,861 (GRCm39) R996* probably null Het
Skic3 T C 13: 76,282,934 (GRCm39) V752A probably benign Het
Slc6a13 A T 6: 121,309,332 (GRCm39) D281V probably damaging Het
Slfn5 T C 11: 82,847,442 (GRCm39) V109A probably benign Het
Smyd1 A T 6: 71,289,703 (GRCm39) probably null Het
Snx29 T A 16: 11,185,588 (GRCm39) M57K probably benign Het
Stag1 T G 9: 100,770,139 (GRCm39) I603S probably benign Het
Svep1 C A 4: 58,097,292 (GRCm39) C1417F possibly damaging Het
Tbc1d23 T C 16: 57,009,714 (GRCm39) I392V probably benign Het
Tchh T C 3: 93,354,106 (GRCm39) L1182P unknown Het
Tle3 T A 9: 61,301,915 (GRCm39) V108E probably damaging Het
Tmem144 T C 3: 79,732,707 (GRCm39) probably null Het
Tpr T G 1: 150,295,658 (GRCm39) L894V possibly damaging Het
Trappc9 A T 15: 72,871,874 (GRCm39) V472E probably damaging Het
Trim38 T C 13: 23,975,081 (GRCm39) V340A probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Vmn1r12 T A 6: 57,136,494 (GRCm39) I197N possibly damaging Het
Vmn1r26 T C 6: 57,986,111 (GRCm39) Y26C possibly damaging Het
Vwa3a A G 7: 120,358,177 (GRCm39) I83V probably null Het
Xirp1 C T 9: 119,847,657 (GRCm39) E409K probably benign Het
Zc3h14 T G 12: 98,730,181 (GRCm39) I46R probably damaging Het
Zfp976 A G 7: 42,263,265 (GRCm39) C191R probably damaging Het
Other mutations in Or6p1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01018:Or6p1 APN 1 174,258,908 (GRCm39) missense probably benign 0.00
IGL01560:Or6p1 APN 1 174,258,467 (GRCm39) missense probably benign 0.17
IGL01795:Or6p1 APN 1 174,258,215 (GRCm39) missense possibly damaging 0.83
IGL03286:Or6p1 APN 1 174,258,743 (GRCm39) missense probably benign 0.01
PIT4131001:Or6p1 UTSW 1 174,258,390 (GRCm39) missense probably damaging 1.00
R0219:Or6p1 UTSW 1 174,258,032 (GRCm39) missense probably benign 0.00
R0492:Or6p1 UTSW 1 174,258,129 (GRCm39) missense possibly damaging 0.95
R1052:Or6p1 UTSW 1 174,258,701 (GRCm39) nonsense probably null
R1054:Or6p1 UTSW 1 174,258,419 (GRCm39) missense probably benign 0.36
R1473:Or6p1 UTSW 1 174,258,209 (GRCm39) missense probably damaging 0.97
R1675:Or6p1 UTSW 1 174,258,663 (GRCm39) missense probably benign
R1774:Or6p1 UTSW 1 174,258,905 (GRCm39) missense probably benign 0.00
R1861:Or6p1 UTSW 1 174,258,657 (GRCm39) missense probably damaging 1.00
R1959:Or6p1 UTSW 1 174,258,471 (GRCm39) missense probably damaging 1.00
R4043:Or6p1 UTSW 1 174,258,657 (GRCm39) missense probably damaging 1.00
R5020:Or6p1 UTSW 1 174,258,237 (GRCm39) missense probably damaging 0.98
R5354:Or6p1 UTSW 1 174,258,252 (GRCm39) missense probably damaging 0.98
R5873:Or6p1 UTSW 1 174,258,348 (GRCm39) missense possibly damaging 0.84
R6053:Or6p1 UTSW 1 174,258,135 (GRCm39) nonsense probably null
R8300:Or6p1 UTSW 1 174,258,100 (GRCm39) nonsense probably null
R9105:Or6p1 UTSW 1 174,258,861 (GRCm39) missense probably damaging 1.00
R9716:Or6p1 UTSW 1 174,258,641 (GRCm39) missense probably benign 0.21
Z1176:Or6p1 UTSW 1 174,258,157 (GRCm39) missense probably benign 0.39
Predicted Primers PCR Primer
(F):5'- TGAAGCTGCTTTTCATTTCCAG -3'
(R):5'- TTCTCAAGCAGTAGATGGCTGG -3'

Sequencing Primer
(F):5'- CAGGTTATCCTACTGTGGGCC -3'
(R):5'- TCAAGCAGTAGATGGCTGGATTGAG -3'
Posted On 2014-08-25