Incidental Mutation 'IGL01412:Or51q1c'
ID 80081
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or51q1c
Ensembl Gene ENSMUSG00000094063
Gene Name olfactory receptor family 51 subfamily Q member 1C
Synonyms Olfr638, MOR5-1, GA_x6K02T2PBJ9-6737723-6738670
Accession Numbers
Essential gene? Probably non essential (E-score: 0.175) question?
Stock # IGL01412
Quality Score
Status
Chromosome 7
Chromosomal Location 103652466-103653431 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 103652842 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 120 (M120K)
Ref Sequence ENSEMBL: ENSMUSP00000151996 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000138055] [ENSMUST00000209757] [ENSMUST00000215653] [ENSMUST00000218325]
AlphaFold Q8VH20
Predicted Effect probably damaging
Transcript: ENSMUST00000098184
AA Change: M126K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000095786
Gene: ENSMUSG00000094063
AA Change: M126K

DomainStartEndE-ValueType
Pfam:7tm_4 39 318 2.6e-119 PFAM
Pfam:7TM_GPCR_Srsx 43 198 9.8e-10 PFAM
Pfam:7tm_1 49 300 7.8e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000138055
SMART Domains Protein: ENSMUSP00000139240
Gene: ENSMUSG00000109824

DomainStartEndE-ValueType
transmembrane domain 29 51 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000209757
AA Change: M126K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000215653
Predicted Effect probably damaging
Transcript: ENSMUST00000218325
AA Change: M120K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
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
6030458C11Rik G A 15: 12,815,958 (GRCm39) Q222* probably null Het
Adamts2 A G 11: 50,686,230 (GRCm39) E1016G probably benign Het
Agmo G A 12: 37,452,140 (GRCm39) E269K possibly damaging Het
Agrn A T 4: 156,255,491 (GRCm39) probably benign Het
Alpk1 A T 3: 127,473,621 (GRCm39) L794Q possibly damaging Het
Asb14 T A 14: 26,637,022 (GRCm39) L588H probably damaging Het
Btbd16 A T 7: 130,407,549 (GRCm39) probably null Het
Cacna1h T C 17: 25,610,924 (GRCm39) K625E probably benign Het
Cdh23 T C 10: 60,150,473 (GRCm39) D2499G probably damaging Het
Cdhr2 A T 13: 54,873,707 (GRCm39) D687V probably damaging Het
Cops8 G T 1: 90,532,153 (GRCm39) L45F possibly damaging Het
D130043K22Rik A G 13: 25,071,843 (GRCm39) H929R probably damaging Het
Dnah12 A G 14: 26,492,962 (GRCm39) E1241G probably damaging Het
Dock4 T A 12: 40,780,040 (GRCm39) probably benign Het
Dsg1c A G 18: 20,380,518 (GRCm39) I8V probably benign Het
Dst T C 1: 34,281,701 (GRCm39) V5435A probably benign Het
Fat4 A G 3: 38,945,330 (GRCm39) I1408V probably benign Het
Fhit G T 14: 9,870,065 (GRCm38) H72N probably damaging Het
Foxp2 C A 6: 15,376,757 (GRCm39) probably benign Het
Fpgt T C 3: 154,792,359 (GRCm39) Q556R probably benign Het
Galntl6 T A 8: 58,230,328 (GRCm39) E30V probably damaging Het
Gemin4 A T 11: 76,104,311 (GRCm39) V150D probably benign Het
Grm8 C T 6: 27,762,460 (GRCm39) R255H probably damaging Het
Hapln3 G A 7: 78,767,184 (GRCm39) probably null Het
Htt T A 5: 35,055,916 (GRCm39) L2609Q probably damaging Het
Igdcc4 A G 9: 65,021,731 (GRCm39) probably benign Het
Isx T C 8: 75,619,306 (GRCm39) L166P probably benign Het
Kcnt2 G A 1: 140,498,155 (GRCm39) M884I probably benign Het
Leo1 A G 9: 75,373,524 (GRCm39) N650D probably benign Het
Man1a A G 10: 53,950,810 (GRCm39) V195A probably benign Het
Map2k5 A T 9: 63,200,988 (GRCm39) I215N probably damaging Het
Mier2 A G 10: 79,377,014 (GRCm39) *542R probably null Het
Mrgbp T A 2: 180,225,209 (GRCm39) F55Y probably damaging Het
Nadsyn1 A T 7: 143,362,527 (GRCm39) probably null Het
Nedd9 A T 13: 41,469,262 (GRCm39) Y630* probably null Het
Nrp1 T C 8: 129,145,188 (GRCm39) probably benign Het
Or4k15b A G 14: 50,272,770 (GRCm39) I30T probably benign Het
Or52z12 A G 7: 103,234,114 (GRCm39) N295S probably damaging Het
Or5w17 A T 2: 87,583,461 (GRCm39) L292Q probably damaging Het
Or7g21 T A 9: 19,032,895 (GRCm39) C212S probably benign Het
Pcnx1 A T 12: 81,953,239 (GRCm39) I127F probably damaging Het
Pik3ap1 T C 19: 41,364,329 (GRCm39) E130G possibly damaging Het
Pkd1l1 G T 11: 8,900,409 (GRCm39) T44N possibly damaging Het
Polr1c A G 17: 46,555,135 (GRCm39) S226P probably damaging Het
Pramel28 A C 4: 143,691,565 (GRCm39) V386G probably damaging Het
Prep A G 10: 45,029,208 (GRCm39) Y536C probably damaging Het
Ptprb A G 10: 116,179,820 (GRCm39) T1413A probably benign Het
Pwwp3a T A 10: 80,070,163 (GRCm39) probably null Het
Ryr2 T A 13: 11,756,922 (GRCm39) K1577N probably benign Het
Selplg G T 5: 113,957,529 (GRCm39) T33K probably damaging Het
Slc26a5 T A 5: 22,020,734 (GRCm39) I505L probably damaging Het
Slc39a6 T C 18: 24,718,413 (GRCm39) N548S probably damaging Het
Sp7 T C 15: 102,267,798 (GRCm39) T3A possibly damaging Het
Tango6 T C 8: 107,545,131 (GRCm39) V998A probably benign Het
Tas2r130 A T 6: 131,607,473 (GRCm39) Y107* probably null Het
Tjp2 T C 19: 24,078,139 (GRCm39) E918G probably damaging Het
Trim12a C T 7: 103,956,202 (GRCm39) A113T probably benign Het
Zan T A 5: 137,391,294 (GRCm39) D4730V unknown Het
Zfp607a A T 7: 27,578,109 (GRCm39) D393V probably damaging Het
Other mutations in Or51q1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01901:Or51q1c APN 7 103,653,274 (GRCm39) missense probably damaging 1.00
IGL02040:Or51q1c APN 7 103,652,614 (GRCm39) missense probably damaging 1.00
IGL02756:Or51q1c APN 7 103,652,866 (GRCm39) missense probably damaging 1.00
R0122:Or51q1c UTSW 7 103,652,565 (GRCm39) missense probably damaging 1.00
R0137:Or51q1c UTSW 7 103,652,709 (GRCm39) missense probably benign 0.13
R0312:Or51q1c UTSW 7 103,653,232 (GRCm39) missense probably damaging 1.00
R0650:Or51q1c UTSW 7 103,652,446 (GRCm39) splice site probably null
R0652:Or51q1c UTSW 7 103,652,446 (GRCm39) splice site probably null
R1382:Or51q1c UTSW 7 103,652,927 (GRCm39) missense probably benign 0.01
R1700:Or51q1c UTSW 7 103,653,329 (GRCm39) nonsense probably null
R1723:Or51q1c UTSW 7 103,652,518 (GRCm39) missense probably damaging 0.97
R1745:Or51q1c UTSW 7 103,653,270 (GRCm39) missense probably benign 0.02
R1840:Or51q1c UTSW 7 103,653,324 (GRCm39) missense probably benign 0.00
R3408:Or51q1c UTSW 7 103,652,550 (GRCm39) nonsense probably null
R3413:Or51q1c UTSW 7 103,653,039 (GRCm39) missense probably damaging 0.99
R4441:Or51q1c UTSW 7 103,653,279 (GRCm39) missense probably damaging 1.00
R4727:Or51q1c UTSW 7 103,653,097 (GRCm39) missense probably benign 0.00
R5096:Or51q1c UTSW 7 103,652,667 (GRCm39) missense probably benign 0.08
R5851:Or51q1c UTSW 7 103,652,659 (GRCm39) missense probably benign 0.13
R6133:Or51q1c UTSW 7 103,652,532 (GRCm39) missense possibly damaging 0.58
R6529:Or51q1c UTSW 7 103,653,133 (GRCm39) missense probably benign 0.06
R6572:Or51q1c UTSW 7 103,648,391 (GRCm39) splice site probably null
R6799:Or51q1c UTSW 7 103,648,006 (GRCm39) critical splice donor site probably null
R7267:Or51q1c UTSW 7 103,653,046 (GRCm39) missense probably benign
R9140:Or51q1c UTSW 7 103,653,322 (GRCm39) missense probably damaging 1.00
X0018:Or51q1c UTSW 7 103,652,638 (GRCm39) missense probably benign
X0063:Or51q1c UTSW 7 103,652,734 (GRCm39) missense probably damaging 0.99
Posted On 2013-11-05