Incidental Mutation 'R2422:Or5an11'
ID 249416
Institutional Source Beutler Lab
Gene Symbol Or5an11
Ensembl Gene ENSMUSG00000060049
Gene Name olfactory receptor family 5 subfamily AN member 11
Synonyms Olfr245, GA_x6K02T2LL2P-1028-792, Olfr232, GA_x6K02T03CT6-1-477, GA_x6K02T057QT-4025-4642, MOR214-3, Olfr235, MOR214-3
MMRRC Submission 040384-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # R2422 (G1)
Quality Score 209
Status Not validated
Chromosome 19
Chromosomal Location 12245596-12246534 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 12246283 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 230 (T230S)
Ref Sequence ENSEMBL: ENSMUSP00000150313 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073507] [ENSMUST00000207969] [ENSMUST00000214551] [ENSMUST00000214613] [ENSMUST00000214638] [ENSMUST00000215407]
AlphaFold E9Q9Z6
Predicted Effect probably damaging
Transcript: ENSMUST00000073507
AA Change: T230S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000073203
Gene: ENSMUSG00000060049
AA Change: T230S

DomainStartEndE-ValueType
Pfam:7tm_4 32 309 3.8e-56 PFAM
Pfam:7tm_1 42 309 1.2e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207842
Predicted Effect probably damaging
Transcript: ENSMUST00000207969
AA Change: T230S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000214551
AA Change: T230S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000214613
AA Change: T230S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000214638
AA Change: T230S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000215407
AA Change: T230S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 99% (77/78)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933409G03Rik A T 2: 68,421,864 (GRCm39) N47I probably benign Het
Actr5 T C 2: 158,478,001 (GRCm39) F457S probably damaging Het
Adamts3 A G 5: 89,831,034 (GRCm39) S1007P probably damaging Het
Adck2 C T 6: 39,560,932 (GRCm39) A440V possibly damaging Het
Birc6 T A 17: 74,967,609 (GRCm39) L301Q probably damaging Het
Ccdc121rt3 A T 5: 112,502,984 (GRCm39) V240D probably damaging Het
Ccdc18 A C 5: 108,376,454 (GRCm39) E1298D probably damaging Het
Ccdc77 A G 6: 120,316,120 (GRCm39) C186R probably benign Het
Cdk12 T G 11: 98,109,900 (GRCm39) S640R probably benign Het
Cdv3 T C 9: 103,242,317 (GRCm39) probably benign Het
Celf2 G A 2: 6,558,700 (GRCm39) T364I probably damaging Het
Cmtr2 C A 8: 110,949,413 (GRCm39) S574R probably benign Het
Col14a1 T C 15: 55,313,318 (GRCm39) L56P unknown Het
Cracdl C A 1: 37,652,556 (GRCm39) V1084L probably benign Het
Dctn1 C T 6: 83,176,782 (GRCm39) L1241F possibly damaging Het
Depdc5 T C 5: 33,148,379 (GRCm39) F1505S probably damaging Het
Dhcr24 G T 4: 106,418,291 (GRCm39) probably benign Het
Dnajc21 A G 15: 10,462,021 (GRCm39) S127P probably benign Het
Entpd7 A T 19: 43,716,527 (GRCm39) Y507F possibly damaging Het
Fbp1 T C 13: 63,019,120 (GRCm39) K24E probably benign Het
Galr1 A T 18: 82,424,048 (GRCm39) N76K probably damaging Het
Glrb A G 3: 80,767,542 (GRCm39) I226T probably damaging Het
Gm17421 T A 12: 113,333,107 (GRCm39) noncoding transcript Het
Gm4950 T A 18: 51,998,856 (GRCm39) Q33L probably benign Het
Gnat2 A T 3: 108,002,855 (GRCm39) M88L probably damaging Het
Gpr183 A G 14: 122,191,589 (GRCm39) Y311H probably damaging Het
H2-M10.5 A G 17: 37,085,891 (GRCm39) I308V probably benign Het
Hipk3 C T 2: 104,301,830 (GRCm39) G121R probably benign Het
Hjurp A G 1: 88,194,283 (GRCm39) probably benign Het
Homez C A 14: 55,095,031 (GRCm39) V226F probably benign Het
Inf2 C A 12: 112,577,258 (GRCm39) A1034D unknown Het
Kcnc4 G T 3: 107,352,863 (GRCm39) P572T probably benign Het
Kmt2d T C 15: 98,760,147 (GRCm39) E1037G unknown Het
Krt78 T C 15: 101,855,699 (GRCm39) E704G probably damaging Het
Lama1 A T 17: 68,057,548 (GRCm39) M541L probably benign Het
Lmbrd2 C T 15: 9,194,852 (GRCm39) T618M possibly damaging Het
Ly6g6e G A 17: 35,297,122 (GRCm39) R121Q probably benign Het
Mettl22 T C 16: 8,305,225 (GRCm39) F293L probably damaging Het
Mib1 T C 18: 10,751,906 (GRCm39) S263P probably damaging Het
Ndufaf1 T C 2: 119,486,218 (GRCm39) E298G probably damaging Het
Nek1 T C 8: 61,472,935 (GRCm39) V152A probably damaging Het
Nlrp4d T A 7: 10,096,872 (GRCm39) D876V probably benign Het
Or10d5 A G 9: 39,861,824 (GRCm39) L81P possibly damaging Het
Or11g7 T C 14: 50,690,893 (GRCm39) L128P probably damaging Het
Or5k15 T C 16: 58,710,328 (GRCm39) E85G probably benign Het
Pcdha11 G T 18: 37,140,325 (GRCm39) L651F probably damaging Het
Plekhg1 G A 10: 3,908,048 (GRCm39) M988I probably benign Het
Plxnb1 G A 9: 108,937,506 (GRCm39) R1169H probably benign Het
Ppp4r3a A G 12: 101,008,912 (GRCm39) probably benign Het
Pum2 A T 12: 8,798,931 (GRCm39) Q930L possibly damaging Het
Rbp4 T C 19: 38,112,792 (GRCm39) E67G probably damaging Het
Rgs9 C A 11: 109,116,603 (GRCm39) probably null Het
Semp2l1 C T 1: 32,584,942 (GRCm39) A323T possibly damaging Het
Sipa1 A T 19: 5,702,140 (GRCm39) D923E possibly damaging Het
Smc1a A G X: 150,830,971 (GRCm39) probably benign Het
Snx33 C A 9: 56,825,822 (GRCm39) M546I probably benign Het
Spag17 T A 3: 99,934,935 (GRCm39) W714R probably benign Het
Spata2 C T 2: 167,326,126 (GRCm39) R231Q probably damaging Het
Stard9 C T 2: 120,530,765 (GRCm39) R2341C probably benign Het
Tas2r116 A T 6: 132,832,557 (GRCm39) I53F possibly damaging Het
Tlk1 T C 2: 70,600,349 (GRCm39) E110G probably damaging Het
Tmem102 T A 11: 69,695,363 (GRCm39) E203V probably benign Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Ttc23l G A 15: 10,537,652 (GRCm39) S206L probably benign Het
Ttc23l CT CTTGGATT 15: 10,537,648 (GRCm39) probably benign Het
Tyw5 A G 1: 57,435,907 (GRCm39) I82T possibly damaging Het
Uba6 A G 5: 86,280,475 (GRCm39) probably null Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Unc13c T C 9: 73,838,829 (GRCm39) Y674C probably damaging Het
Vmn2r105 T A 17: 20,448,097 (GRCm39) R242S probably benign Het
Vmn2r12 A G 5: 109,234,398 (GRCm39) Y605H probably benign Het
Wdr77 A T 3: 105,867,337 (GRCm39) K62* probably null Het
Zfhx4 C A 3: 5,455,465 (GRCm39) A1153E probably benign Het
Zfp266 C A 9: 20,410,558 (GRCm39) V540L possibly damaging Het
Zfp638 C A 6: 83,943,421 (GRCm39) probably benign Het
Zfp644 A G 5: 106,785,110 (GRCm39) M479T possibly damaging Het
Zfp951 G A 5: 104,963,143 (GRCm39) T141I probably benign Het
Other mutations in Or5an11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02116:Or5an11 APN 19 12,246,374 (GRCm39) missense probably damaging 1.00
IGL03397:Or5an11 APN 19 12,245,866 (GRCm39) missense probably benign 0.03
R1239:Or5an11 UTSW 19 12,246,340 (GRCm39) missense probably damaging 1.00
R1416:Or5an11 UTSW 19 12,246,258 (GRCm39) missense probably benign 0.09
R1441:Or5an11 UTSW 19 12,245,750 (GRCm39) nonsense probably null
R1694:Or5an11 UTSW 19 12,246,281 (GRCm39) missense probably damaging 1.00
R1727:Or5an11 UTSW 19 12,246,365 (GRCm39) missense possibly damaging 0.70
R3439:Or5an11 UTSW 19 12,245,759 (GRCm39) missense possibly damaging 0.56
R4545:Or5an11 UTSW 19 12,246,188 (GRCm39) missense possibly damaging 0.91
R4605:Or5an11 UTSW 19 12,246,532 (GRCm39) makesense probably null
R5147:Or5an11 UTSW 19 12,246,268 (GRCm39) missense probably damaging 1.00
R5382:Or5an11 UTSW 19 12,245,773 (GRCm39) missense possibly damaging 0.62
R5717:Or5an11 UTSW 19 12,246,520 (GRCm39) missense probably benign 0.13
R6455:Or5an11 UTSW 19 12,246,070 (GRCm39) missense probably damaging 0.97
R6880:Or5an11 UTSW 19 12,245,974 (GRCm39) missense probably benign 0.22
R7311:Or5an11 UTSW 19 12,246,068 (GRCm39) missense probably benign 0.29
R7384:Or5an11 UTSW 19 12,246,440 (GRCm39) missense possibly damaging 0.80
R8138:Or5an11 UTSW 19 12,246,436 (GRCm39) missense possibly damaging 0.61
R9005:Or5an11 UTSW 19 12,245,704 (GRCm39) missense probably benign
R9118:Or5an11 UTSW 19 12,246,263 (GRCm39) missense probably benign 0.02
R9484:Or5an11 UTSW 19 12,245,735 (GRCm39) missense possibly damaging 0.58
R9549:Or5an11 UTSW 19 12,246,408 (GRCm39) missense probably benign 0.02
R9691:Or5an11 UTSW 19 12,246,379 (GRCm39) nonsense probably null
R9738:Or5an11 UTSW 19 12,245,869 (GRCm39) missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- GACTCACAGGCTCTGTATCTCAG -3'
(R):5'- GGGTTCAACATAGGAATCACCAC -3'

Sequencing Primer
(F):5'- CAGATATGTGCCTTGCTGCAGC -3'
(R):5'- TCACCACAGTGTAGAAGACAGATGC -3'
Posted On 2014-11-12