Incidental Mutation 'IGL01532:Olfr548-ps1'
ID89809
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr548-ps1
Ensembl Gene ENSMUSG00000073978
Gene Nameolfactory receptor 548, pseudogene 1
SynonymsGA_x6K02T2PBJ9-5263046-5263989, MOR31-13
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.077) question?
Stock #IGL01532
Quality Score
Status
Chromosome7
Chromosomal Location102540896-102545890 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 102542656 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 240 (L240P)
Ref Sequence ENSEMBL: ENSMUSP00000147923 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098228] [ENSMUST00000210064]
Predicted Effect probably damaging
Transcript: ENSMUST00000098228
AA Change: L240P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131106
Gene: ENSMUSG00000073978
AA Change: L240P

DomainStartEndE-ValueType
Pfam:7tm_4 33 311 6.8e-104 PFAM
Pfam:7TM_GPCR_Srsx 37 280 1.6e-9 PFAM
Pfam:7tm_1 43 294 2.1e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000098228
AA Change: L240P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000210064
AA Change: L240P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts17 C A 7: 66,908,601 N264K probably damaging Het
Adgrl3 C T 5: 81,694,569 T260I probably damaging Het
Ambra1 G T 2: 91,885,632 K769N probably damaging Het
Arel1 A G 12: 84,934,162 V357A possibly damaging Het
Atp11b T A 3: 35,849,502 C76* probably null Het
AW112010 C A 19: 11,048,069 noncoding transcript Het
Bfar A T 16: 13,687,387 probably benign Het
Ccdc70 T G 8: 21,973,283 L30V probably damaging Het
Chrm5 C T 2: 112,479,232 R513Q probably benign Het
Crem G A 18: 3,276,732 T7I probably benign Het
Cyp4f39 C T 17: 32,470,954 probably benign Het
Dlg5 T C 14: 24,158,592 T849A probably benign Het
Dock8 G T 19: 25,169,441 G1428V probably damaging Het
Eomes T C 9: 118,482,249 I380T probably damaging Het
Fam13a T C 6: 58,940,295 D532G probably damaging Het
Fopnl A G 16: 14,304,511 S130P probably benign Het
Gm10061 G T 16: 89,151,302 *55L probably null Het
Gm27438 T G 2: 87,252,925 probably benign Het
Gpalpp1 T C 14: 76,102,502 K124E probably benign Het
Hgs T A 11: 120,477,509 probably null Het
Hpn T A 7: 31,103,513 M121L possibly damaging Het
Il1r1 T C 1: 40,294,928 probably null Het
Jag2 A T 12: 112,914,363 C583S probably damaging Het
Katnal2 T C 18: 77,012,000 H146R probably benign Het
Ldah T C 12: 8,220,596 probably benign Het
Lvrn T A 18: 46,900,484 Y921N probably damaging Het
Muc5b A G 7: 141,870,006 Y4572C possibly damaging Het
Myo16 A G 8: 10,400,551 S518G probably benign Het
Ncf1 T C 5: 134,226,593 N148S probably benign Het
Nes T G 3: 87,978,347 D1260E possibly damaging Het
Nup210 C A 6: 91,085,999 probably benign Het
Rnf31 C A 14: 55,602,623 Q968K probably damaging Het
Ros1 A G 10: 52,090,938 probably benign Het
Ryk T C 9: 102,897,266 Y400H probably benign Het
Slc4a5 T A 6: 83,273,040 probably null Het
Sptssb A G 3: 69,820,869 probably benign Het
Sstr5 T C 17: 25,491,331 D308G probably damaging Het
Taf2 A G 15: 55,049,486 W493R possibly damaging Het
Vmn2r28 T A 7: 5,486,464 I459L probably benign Het
Vti1b A C 12: 79,165,138 L1W probably null Het
Wdr1 T C 5: 38,535,187 Y125C probably damaging Het
Other mutations in Olfr548-ps1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00983:Olfr548-ps1 APN 7 102542386 missense possibly damaging 0.94
R0114:Olfr548-ps1 UTSW 7 102542731 missense probably benign 0.32
R0398:Olfr548-ps1 UTSW 7 102542692 missense probably damaging 1.00
R0426:Olfr548-ps1 UTSW 7 102542686 missense probably damaging 1.00
R0616:Olfr548-ps1 UTSW 7 102542554 missense possibly damaging 0.70
R1511:Olfr548-ps1 UTSW 7 102542125 missense probably damaging 1.00
R1570:Olfr548-ps1 UTSW 7 102541970 missense probably damaging 0.99
R4668:Olfr548-ps1 UTSW 7 102542604 missense possibly damaging 0.95
R4825:Olfr548-ps1 UTSW 7 102542380 missense possibly damaging 0.90
R6030:Olfr548-ps1 UTSW 7 102542610 missense probably benign 0.01
R6030:Olfr548-ps1 UTSW 7 102542610 missense probably benign 0.01
R6427:Olfr548-ps1 UTSW 7 102542688 missense probably benign 0.05
R7108:Olfr548-ps1 UTSW 7 102541992 missense probably damaging 0.99
R7451:Olfr548-ps1 UTSW 7 102542254 missense probably benign 0.01
R7622:Olfr548-ps1 UTSW 7 102542623 missense probably benign 0.00
R7940:Olfr548-ps1 UTSW 7 102542308 missense possibly damaging 0.60
R8074:Olfr548-ps1 UTSW 7 102542623 missense probably benign 0.00
R8133:Olfr548-ps1 UTSW 7 102542858 missense probably benign 0.01
R8145:Olfr548-ps1 UTSW 7 102542623 missense probably benign 0.00
X0058:Olfr548-ps1 UTSW 7 102542826 missense probably damaging 1.00
Posted On2013-12-03