Incidental Mutation 'R0599:Olfr1260'
ID55193
Institutional Source Beutler Lab
Gene Symbol Olfr1260
Ensembl Gene ENSMUSG00000042894
Gene Nameolfactory receptor 1260
SynonymsGA_x6K02T2Q125-51409740-51410672, MOR232-2
MMRRC Submission 038788-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.135) question?
Stock #R0599 (G1)
Quality Score225
Status Validated
Chromosome2
Chromosomal Location89974340-89981586 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 89978201 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 141 (F141S)
Ref Sequence ENSEMBL: ENSMUSP00000119512 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061830] [ENSMUST00000111512] [ENSMUST00000144710] [ENSMUST00000214630] [ENSMUST00000216678]
Predicted Effect probably benign
Transcript: ENSMUST00000061830
AA Change: F141S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000053523
Gene: ENSMUSG00000042894
AA Change: F141S

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 2.7e-45 PFAM
Pfam:7tm_1 39 285 1.7e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111512
AA Change: F141S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000107137
Gene: ENSMUSG00000042894
AA Change: F141S

DomainStartEndE-ValueType
Pfam:7tm_1 39 285 7.4e-27 PFAM
Pfam:7tm_4 137 278 2.4e-38 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141685
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144613
Predicted Effect probably benign
Transcript: ENSMUST00000144710
AA Change: F141S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000119512
Gene: ENSMUSG00000042894
AA Change: F141S

DomainStartEndE-ValueType
Pfam:7tm_1 39 121 4.2e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213162
Predicted Effect probably benign
Transcript: ENSMUST00000214630
AA Change: F141S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000216678
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216744
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.0%
Validation Efficiency 98% (80/82)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A G 6: 128,552,245 L978P probably damaging Het
Abcb1a C T 5: 8,698,539 T290M probably benign Het
Abcd3 A T 3: 121,765,093 F585I probably damaging Het
Acan A G 7: 79,111,290 probably benign Het
Anxa6 T C 11: 54,979,466 D667G possibly damaging Het
Ap3m2 G T 8: 22,793,112 A208D possibly damaging Het
Arhgap17 A T 7: 123,303,790 probably benign Het
Bptf A G 11: 107,068,382 V1838A probably damaging Het
Brip1 T A 11: 86,152,737 M334L probably benign Het
Btbd10 C T 7: 113,335,309 probably benign Het
Btbd11 G A 10: 85,658,336 G1106D probably damaging Het
Cdh7 C A 1: 110,052,966 T208K probably damaging Het
Cnga4 A G 7: 105,405,818 Y100C probably damaging Het
Dnah10 G A 5: 124,800,953 V2644M probably damaging Het
Dnah9 T C 11: 65,965,689 D2882G probably damaging Het
Eapp T A 12: 54,685,962 K117M probably damaging Het
Eml3 T C 19: 8,939,063 V673A probably benign Het
Ephb4 G A 5: 137,369,855 C754Y probably damaging Het
Eps8l1 A G 7: 4,477,957 D33G possibly damaging Het
Farsa A G 8: 84,867,583 K321E probably damaging Het
Fry G A 5: 150,437,159 R2090Q probably damaging Het
Gm10283 A G 8: 60,501,224 probably benign Het
Grm4 A G 17: 27,431,490 I844T probably benign Het
Gtf2h3 A G 5: 124,588,628 D124G probably benign Het
Gulo A T 14: 65,990,441 D347E probably damaging Het
Hmcn1 A G 1: 150,609,801 F4350S possibly damaging Het
Hspg2 A G 4: 137,512,401 D473G probably damaging Het
Il17ra T A 6: 120,481,505 I539N probably damaging Het
Insrr A G 3: 87,813,133 E1026G probably damaging Het
Itga2 A T 13: 114,856,650 probably benign Het
Kdm1b A T 13: 47,058,810 D190V possibly damaging Het
Lima1 A T 15: 99,802,159 N146K probably damaging Het
Mettl7a3 A T 15: 100,335,383 N152Y possibly damaging Het
Mnt G T 11: 74,842,296 V85L probably benign Het
Mon2 T A 10: 123,026,065 probably benign Het
Mtf1 T C 4: 124,820,201 probably benign Het
Mylk4 T C 13: 32,712,754 probably null Het
Myo18b A C 5: 112,865,750 L780R probably damaging Het
Myo1e A G 9: 70,376,660 probably benign Het
Obscn A G 11: 59,073,696 S705P probably damaging Het
Ocrl A T X: 47,936,086 probably benign Het
Olfr394 A T 11: 73,887,904 M156K probably benign Het
Olfr599 A G 7: 103,338,186 N44S probably damaging Het
Olfr639 A T 7: 104,012,188 C171* probably null Het
Otof T A 5: 30,370,705 K1931N probably damaging Het
Plcxd3 A G 15: 4,516,867 S118G probably damaging Het
Plcz1 T A 6: 140,028,542 Q58L probably benign Het
Proser1 C A 3: 53,479,064 P789Q probably benign Het
Rassf4 T C 6: 116,645,936 E38G probably damaging Het
Ros1 A T 10: 52,123,300 Y1164N probably damaging Het
Rpgrip1l A G 8: 91,305,000 I83T probably damaging Het
Scn9a T G 2: 66,526,799 K1053Q probably damaging Het
Sgsm1 G T 5: 113,245,028 Q1087K probably damaging Het
Slc16a10 T C 10: 40,141,918 D40G probably benign Het
Slc27a6 A G 18: 58,556,813 D117G probably damaging Het
Slc2a9 T A 5: 38,480,144 probably benign Het
Slc4a1 A G 11: 102,357,915 probably benign Het
Smarca1 T A X: 47,823,426 Q982L probably benign Het
Sp100 T A 1: 85,681,110 I320N possibly damaging Het
Stx8 A T 11: 68,109,362 R209S probably null Het
Sulf2 T C 2: 166,083,879 T453A possibly damaging Het
Syne2 AGAGTGAG AGAGTGAGTGAG 12: 76,097,960 probably null Het
Tenm2 T A 11: 36,024,780 I1976F possibly damaging Het
Tenm3 G A 8: 48,277,710 S1341L probably damaging Het
Tmem130 C T 5: 144,737,809 V369M probably damaging Het
Tmem200c A G 17: 68,840,511 K30E probably damaging Het
Tmem225 A G 9: 40,149,747 I117V possibly damaging Het
Top2a A G 11: 99,001,417 I1073T probably damaging Het
Trps1 A C 15: 50,831,860 Y296* probably null Het
Tubg1 T C 11: 101,125,336 M377T probably benign Het
Vmn1r35 G A 6: 66,679,513 H58Y probably benign Het
Vmn1r56 G A 7: 5,196,430 H63Y probably benign Het
Vmn1r75 T C 7: 11,881,262 probably null Het
Vnn3 T C 10: 23,865,705 S303P possibly damaging Het
Wdr49 C T 3: 75,431,076 probably null Het
Wdr49 T C 3: 75,449,890 probably null Het
Zcchc6 A G 13: 59,809,487 V7A probably damaging Het
Zzef1 T C 11: 72,913,178 L2582P probably damaging Het
Other mutations in Olfr1260
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01548:Olfr1260 APN 2 89978539 missense possibly damaging 0.69
IGL01657:Olfr1260 APN 2 89977877 missense probably damaging 1.00
IGL01942:Olfr1260 APN 2 89977978 missense probably benign 0.03
IGL02139:Olfr1260 APN 2 89978429 missense possibly damaging 0.80
IGL02926:Olfr1260 APN 2 89978162 missense probably damaging 1.00
IGL03110:Olfr1260 APN 2 89978149 missense probably damaging 1.00
IGL03368:Olfr1260 APN 2 89977789 missense probably benign
R0046:Olfr1260 UTSW 2 89978507 missense probably damaging 1.00
R0046:Olfr1260 UTSW 2 89978507 missense probably damaging 1.00
R0087:Olfr1260 UTSW 2 89978131 missense probably damaging 1.00
R1208:Olfr1260 UTSW 2 89978492 missense probably damaging 0.99
R1208:Olfr1260 UTSW 2 89978492 missense probably damaging 0.99
R1424:Olfr1260 UTSW 2 89978071 nonsense probably null
R1503:Olfr1260 UTSW 2 89978528 missense probably damaging 0.99
R1708:Olfr1260 UTSW 2 89978038 missense probably benign 0.00
R1863:Olfr1260 UTSW 2 89978410 missense probably benign 0.02
R1866:Olfr1260 UTSW 2 89978327 missense probably damaging 1.00
R2072:Olfr1260 UTSW 2 89978213 missense probably benign 0.04
R2219:Olfr1260 UTSW 2 89977912 missense possibly damaging 0.62
R4606:Olfr1260 UTSW 2 89978006 missense possibly damaging 0.79
R4674:Olfr1260 UTSW 2 89977906 missense possibly damaging 0.52
R4825:Olfr1260 UTSW 2 89978153 missense probably damaging 1.00
R5822:Olfr1260 UTSW 2 89978443 missense probably damaging 1.00
R6487:Olfr1260 UTSW 2 89977838 missense probably benign 0.31
R6706:Olfr1260 UTSW 2 89978585 missense probably damaging 0.96
X0050:Olfr1260 UTSW 2 89978016 missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- ATCCTTCGTAGATGGCTGCTGCTC -3'
(R):5'- AGCATACACATTAGCCCGCTGTTG -3'

Sequencing Primer
(F):5'- TGGCCCCCAAAATGATATTTGAC -3'
(R):5'- TTGGCAGCAACAAAGAGTCC -3'
Posted On2013-07-11