Incidental Mutation 'IGL02656:Gas2'
ID302338
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gas2
Ensembl Gene ENSMUSG00000030498
Gene Namegrowth arrest specific 2
SynonymsGas-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.167) question?
Stock #IGL02656
Quality Score
Status
Chromosome7
Chromosomal Location51862015-51994975 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 51943744 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 191 (S191P)
Ref Sequence ENSEMBL: ENSMUSP00000146537 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051912] [ENSMUST00000107591] [ENSMUST00000129604] [ENSMUST00000145049] [ENSMUST00000208711]
Predicted Effect probably benign
Transcript: ENSMUST00000051912
AA Change: S191P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000053514
Gene: ENSMUSG00000030498
AA Change: S191P

DomainStartEndE-ValueType
CH 37 153 5.69e-15 SMART
low complexity region 167 178 N/A INTRINSIC
low complexity region 181 198 N/A INTRINSIC
GAS2 201 274 5.07e-52 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000107589
SMART Domains Protein: ENSMUSP00000103215
Gene: ENSMUSG00000030498

DomainStartEndE-ValueType
CH 37 153 5.69e-15 SMART
low complexity region 167 178 N/A INTRINSIC
low complexity region 181 198 N/A INTRINSIC
Pfam:GAS2 201 250 1.2e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107591
AA Change: S191P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103217
Gene: ENSMUSG00000030498
AA Change: S191P

DomainStartEndE-ValueType
CH 37 153 5.69e-15 SMART
low complexity region 167 178 N/A INTRINSIC
low complexity region 181 198 N/A INTRINSIC
GAS2 201 274 5.07e-52 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000129604
Predicted Effect probably benign
Transcript: ENSMUST00000145049
SMART Domains Protein: ENSMUSP00000117367
Gene: ENSMUSG00000030498

DomainStartEndE-ValueType
CH 37 153 5.69e-15 SMART
low complexity region 167 178 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145723
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155925
Predicted Effect probably benign
Transcript: ENSMUST00000208711
AA Change: S191P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a caspase-3 substrate that plays a role in regulating microfilament and cell shape changes during apoptosis. It can also modulate cell susceptibility to p53-dependent apoptosis by inhibiting calpain activity. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2009]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd28 G T 14: 31,702,240 A981D possibly damaging Het
Ccdc69 G T 11: 55,052,437 Q114K possibly damaging Het
Cct5 A T 15: 31,597,430 D66E probably damaging Het
Ces2e G T 8: 104,927,056 R42I possibly damaging Het
Cib2 T G 9: 54,545,898 D178A probably damaging Het
Cldn7 G A 11: 69,967,008 V97I probably benign Het
Dok3 A T 13: 55,528,480 I12N probably damaging Het
Fndc5 T A 4: 129,139,446 V102E probably damaging Het
Herc6 T A 6: 57,611,836 probably null Het
Krt18 A G 15: 102,030,922 T277A probably benign Het
Mpp3 A G 11: 102,008,601 S365P probably benign Het
Msmo1 T C 8: 64,727,872 T3A probably benign Het
Olfr1509 G T 14: 52,450,709 A99S possibly damaging Het
Olfr1537 T A 9: 39,238,160 E88V probably benign Het
Olfr394 A G 11: 73,888,039 F111S probably damaging Het
Pex19 C A 1: 172,130,685 A77E probably benign Het
Phf20l1 A G 15: 66,629,827 D620G probably damaging Het
Prr5 A G 15: 84,699,136 D105G probably damaging Het
Rab12 T A 17: 66,506,054 K88M probably damaging Het
Rictor T C 15: 6,776,920 V673A probably damaging Het
Rps26 A G 10: 128,625,257 S88P possibly damaging Het
Sema5a T A 15: 32,631,285 S605T possibly damaging Het
Slc35a4 T C 18: 36,682,447 M110T probably damaging Het
Sowahb T C 5: 93,043,247 S538G probably benign Het
Srrt T A 5: 137,299,676 probably benign Het
Ssbp2 G A 13: 91,669,752 probably benign Het
Supt20 C T 3: 54,708,395 R236W probably damaging Het
Tenm4 A G 7: 96,885,433 D1791G probably damaging Het
Tgm6 G A 2: 130,145,103 G497D probably damaging Het
Trim12c C T 7: 104,341,203 V356I probably damaging Het
Vwce T A 19: 10,664,352 I814K probably benign Het
Other mutations in Gas2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02250:Gas2 APN 7 51888038 missense probably damaging 1.00
IGL02539:Gas2 APN 7 51897290 missense possibly damaging 0.96
IGL02557:Gas2 APN 7 51887933 missense probably damaging 0.98
R1702:Gas2 UTSW 7 51953341 splice site probably null
R1826:Gas2 UTSW 7 51943673 missense probably damaging 1.00
R2078:Gas2 UTSW 7 51897325 missense probably benign 0.04
R3826:Gas2 UTSW 7 51936619 critical splice donor site probably null
R5985:Gas2 UTSW 7 51943676 missense probably damaging 1.00
R6510:Gas2 UTSW 7 51943712 missense probably damaging 0.97
R7216:Gas2 UTSW 7 51897257 missense possibly damaging 0.92
R7701:Gas2 UTSW 7 51993353 nonsense probably null
R8178:Gas2 UTSW 7 51897278 missense probably damaging 1.00
Posted On2015-04-16