Incidental Mutation 'IGL01690:Gipc2'
ID104063
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gipc2
Ensembl Gene ENSMUSG00000039131
Gene NameGIPC PDZ domain containing family, member 2
SynonymsSemcap2, 2200002N01Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.113) question?
Stock #IGL01690
Quality Score
Status
Chromosome3
Chromosomal Location152093533-152166230 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 152128134 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 170 (I170T)
Ref Sequence ENSEMBL: ENSMUSP00000037328 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046614]
Predicted Effect probably damaging
Transcript: ENSMUST00000046614
AA Change: I170T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000037328
Gene: ENSMUSG00000039131
AA Change: I170T

DomainStartEndE-ValueType
low complexity region 8 18 N/A INTRINSIC
PDZ 125 199 7.04e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133102
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197813
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200501
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012P22Rik G A 4: 144,438,528 T26M probably damaging Het
4931429P17Rik A G 13: 47,960,970 noncoding transcript Het
Agap2 T C 10: 127,082,958 probably benign Het
Bicra G A 7: 15,987,753 T613I probably benign Het
Cd163 T C 6: 124,307,318 S150P possibly damaging Het
F830045P16Rik T G 2: 129,472,694 Q221P probably damaging Het
Fam129a C A 1: 151,703,804 R425S probably damaging Het
Fam135b T A 15: 71,456,935 M1172L probably benign Het
Fbxo2 G T 4: 148,165,124 probably null Het
Frem1 C T 4: 82,959,296 probably benign Het
Galnt17 C T 5: 131,085,896 probably null Het
Gm2399 C T 13: 12,702,528 noncoding transcript Het
Hdac10 T A 15: 89,125,991 M283L probably benign Het
Icam5 A G 9: 21,034,799 E309G possibly damaging Het
Igkv3-5 T A 6: 70,663,881 S115R probably benign Het
Impg2 A G 16: 56,205,205 R67G probably damaging Het
Kansl1l T C 1: 66,801,073 Y356C probably damaging Het
Ly75 T C 2: 60,338,311 D751G probably damaging Het
Lyst A G 13: 13,743,246 D3297G probably damaging Het
Mall A G 2: 127,729,779 F30L probably benign Het
Map1b C T 13: 99,435,004 G403D probably damaging Het
Mmp11 T C 10: 75,926,896 Y241C probably damaging Het
Olfr1245 A G 2: 89,575,213 V171A probably benign Het
Pcnt C T 10: 76,392,775 A1519T probably damaging Het
Pcsk2 A G 2: 143,687,570 M96V probably benign Het
Piwil4 T C 9: 14,703,095 D124G probably damaging Het
Plb1 A T 5: 32,313,697 I538F probably damaging Het
Polq A G 16: 37,062,838 D1788G probably damaging Het
Pus7 A G 5: 23,775,964 S134P probably damaging Het
Sec61a2 G A 2: 5,886,552 S56L possibly damaging Het
Sel1l G T 12: 91,843,259 D26E probably benign Het
Slc25a48 G A 13: 56,464,945 probably benign Het
Tas2r126 T C 6: 42,435,307 F258S probably benign Het
Tnfrsf13b G A 11: 61,141,320 V59I possibly damaging Het
Ttc30a1 A G 2: 75,979,933 V602A probably benign Het
Usp6nl G A 2: 6,441,068 V619M probably benign Het
Vmn1r67 A G 7: 10,446,840 I10M possibly damaging Het
Vmn2r71 A G 7: 85,615,574 D38G probably damaging Het
Other mutations in Gipc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00163:Gipc2 APN 3 152137578 missense probably damaging 1.00
IGL01065:Gipc2 APN 3 152102657 missense possibly damaging 0.66
IGL01524:Gipc2 APN 3 152137577 missense probably damaging 1.00
IGL01697:Gipc2 APN 3 152137608 missense probably benign 0.22
IGL02223:Gipc2 APN 3 152128050 missense probably damaging 1.00
R0400:Gipc2 UTSW 3 152165668 missense probably damaging 0.99
R0490:Gipc2 UTSW 3 152102654 missense possibly damaging 0.90
R1119:Gipc2 UTSW 3 152094196 missense probably damaging 1.00
R1168:Gipc2 UTSW 3 152107997 missense probably benign 0.10
R1663:Gipc2 UTSW 3 152094164 missense probably benign
R2365:Gipc2 UTSW 3 152128194 missense possibly damaging 0.89
R2434:Gipc2 UTSW 3 152137680 missense probably benign 0.01
R3816:Gipc2 UTSW 3 152165844 missense probably benign 0.02
R3835:Gipc2 UTSW 3 152128186 missense probably damaging 0.98
R5069:Gipc2 UTSW 3 152094248 missense probably benign 0.12
R5240:Gipc2 UTSW 3 152102662 missense possibly damaging 0.73
R5625:Gipc2 UTSW 3 152165904 utr 5 prime probably benign
R6646:Gipc2 UTSW 3 152094201 missense possibly damaging 0.61
R6956:Gipc2 UTSW 3 152094248 missense probably benign 0.12
R7258:Gipc2 UTSW 3 152165715 missense probably damaging 1.00
R7259:Gipc2 UTSW 3 152128056 missense probably damaging 0.99
Posted On2014-01-21