Incidental Mutation 'IGL03204:Glipr2'
ID413070
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Glipr2
Ensembl Gene ENSMUSG00000028480
Gene NameGLI pathogenesis-related 2
SynonymsGAPR-1, 5730414A08Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.229) question?
Stock #IGL03204
Quality Score
Status
Chromosome4
Chromosomal Location43957401-43979118 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 43970507 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 7 (D7E)
Ref Sequence ENSEMBL: ENSMUSP00000103487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030202] [ENSMUST00000107855]
Predicted Effect probably benign
Transcript: ENSMUST00000030202
AA Change: D78E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000030202
Gene: ENSMUSG00000028480
AA Change: D78E

DomainStartEndE-ValueType
SCP 8 141 2.98e-35 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107855
AA Change: D7E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000103487
Gene: ENSMUSG00000028480
AA Change: D7E

DomainStartEndE-ValueType
SCP 2 70 1.95e-3 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930452B06Rik A G 14: 8,644,436 I80T possibly damaging Het
4932438A13Rik A G 3: 37,050,934 probably benign Het
Abhd14a A T 9: 106,440,635 F191I probably damaging Het
Actc1 A T 2: 114,049,530 S201T possibly damaging Het
Ankrd36 T A 11: 5,584,023 D291E possibly damaging Het
Btbd7 T A 12: 102,807,980 R510* probably null Het
Eif4a3 A T 11: 119,293,616 D249E possibly damaging Het
Elovl6 A G 3: 129,633,344 M220V probably benign Het
Ets1 C T 9: 32,733,012 S156L possibly damaging Het
Gja8 C T 3: 96,920,092 V85I probably damaging Het
Il22 C T 10: 118,205,180 probably benign Het
Itln1 A G 1: 171,530,604 V80A probably damaging Het
Kdr A T 5: 75,972,382 C79S possibly damaging Het
Kif26a A T 12: 112,174,779 H672L probably damaging Het
Klhl40 A T 9: 121,782,630 T570S probably benign Het
Macf1 A G 4: 123,355,277 probably benign Het
Magi3 T A 3: 104,105,835 N112I probably damaging Het
Moxd2 T C 6: 40,887,305 T64A probably benign Het
Myh4 T C 11: 67,250,296 V728A possibly damaging Het
Olfr1037 G T 2: 86,085,671 Y35* probably null Het
Prkdc A G 16: 15,769,801 I2517V probably benign Het
Ralgapb A G 2: 158,465,912 I1047V possibly damaging Het
Smg9 A G 7: 24,420,912 E437G probably benign Het
Snx4 A G 16: 33,269,669 K188R probably benign Het
Sox14 A G 9: 99,875,057 S210P probably benign Het
Spata1 A G 3: 146,488,679 F77L probably benign Het
Spata18 G T 5: 73,671,106 probably benign Het
Stard9 G A 2: 120,705,802 D4151N probably damaging Het
Wdr59 T C 8: 111,485,370 H356R probably benign Het
Zfp462 A G 4: 55,080,785 D1380G possibly damaging Het
Other mutations in Glipr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01628:Glipr2 APN 4 43977565 missense probably damaging 1.00
R0003:Glipr2 UTSW 4 43970532 missense probably damaging 0.99
R3816:Glipr2 UTSW 4 43977522 missense possibly damaging 0.93
R4563:Glipr2 UTSW 4 43977600 missense probably damaging 1.00
R7128:Glipr2 UTSW 4 43968601 missense probably benign 0.10
R7184:Glipr2 UTSW 4 43968667 missense possibly damaging 0.61
R7372:Glipr2 UTSW 4 43968184 missense probably damaging 1.00
R7721:Glipr2 UTSW 4 43957770 missense probably benign 0.05
Posted On2016-08-02