Incidental Mutation 'IGL01524:Gipc2'
ID89504
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: 0.172) question?
Stock #IGL01524
Quality Score
Status
Chromosome3
Chromosomal Location152093533-152166230 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 152137577 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 141 (I141T)
Ref Sequence ENSEMBL: ENSMUSP00000037328 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046614]
Predicted Effect probably damaging
Transcript: ENSMUST00000046614
AA Change: I141T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037328
Gene: ENSMUSG00000039131
AA Change: I141T

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A G 3: 36,942,382 D1081G possibly damaging Het
Aadat A T 8: 60,516,072 D117V probably damaging Het
Abca14 T C 7: 120,253,421 Y870H possibly damaging Het
Ankrd36 T C 11: 5,635,092 I301T probably benign Het
Atp10b T A 11: 43,259,845 S1457T probably benign Het
Ccdc175 G A 12: 72,131,142 probably benign Het
Ccdc93 A G 1: 121,461,899 K224E probably benign Het
Cep131 C T 11: 120,065,960 A886T probably damaging Het
Clip1 A C 5: 123,579,379 H1282Q probably damaging Het
Ctcfl T G 2: 173,117,384 D183A probably benign Het
Cyp17a1 C T 19: 46,671,056 V112I probably benign Het
D3Ertd254e T C 3: 36,164,580 Y251H possibly damaging Het
Fhod3 T C 18: 25,130,602 I1521T probably damaging Het
Glo1 T C 17: 30,596,419 R141G possibly damaging Het
Ipmk C A 10: 71,372,801 A140E probably damaging Het
Kynu A G 2: 43,671,382 D310G possibly damaging Het
Myo1f T A 17: 33,579,883 I174N probably damaging Het
Nat10 T A 2: 103,757,757 N8Y probably damaging Het
Nhlrc2 A G 19: 56,576,155 I304V probably benign Het
Pdk4 T C 6: 5,491,979 H31R probably damaging Het
Sema6d T C 2: 124,664,075 V644A possibly damaging Het
Slc30a4 T A 2: 122,702,388 K11N possibly damaging Het
Slc6a3 T C 13: 73,538,549 S12P probably benign Het
Spats2 C T 15: 99,212,246 A508V probably benign Het
Tinag A G 9: 77,045,538 Y55H probably damaging Het
Topbp1 T C 9: 103,311,645 I172T possibly damaging Het
Trim17 A G 11: 58,970,597 T279A probably damaging Het
Vmn1r216 C A 13: 23,099,349 N67K probably benign Het
Washc4 T C 10: 83,576,132 L709P probably benign Het
Xdh T C 17: 73,923,137 probably null Het
Zfhx4 C T 3: 5,243,976 P754L probably damaging Het
Zfp623 C A 15: 75,947,679 S161R probably benign Het
Zmat3 G A 3: 32,341,678 R227C possibly 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
IGL01690:Gipc2 APN 3 152128134 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
R8035:Gipc2 UTSW 3 152094229 missense probably damaging 0.96
Posted On2013-12-03