Incidental Mutation 'IGL02539:Gas2'
ID 297659
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gas2
Ensembl Gene ENSMUSG00000030498
Gene Name growth arrest specific 2
Synonyms Gas-2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # IGL02539
Quality Score
Status
Chromosome 7
Chromosomal Location 51511763-51644723 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 51547038 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 63 (D63G)
Ref Sequence ENSEMBL: ENSMUSP00000146537 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051912] [ENSMUST00000107591] [ENSMUST00000129604] [ENSMUST00000145049] [ENSMUST00000208711]
AlphaFold P11862
Predicted Effect possibly damaging
Transcript: ENSMUST00000051912
AA Change: D63G

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000053514
Gene: ENSMUSG00000030498
AA Change: D63G

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 possibly damaging
Transcript: ENSMUST00000107591
AA Change: D63G

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000103217
Gene: ENSMUSG00000030498
AA Change: D63G

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 possibly damaging
Transcript: ENSMUST00000145049
AA Change: D63G

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000117367
Gene: ENSMUSG00000030498
AA Change: D63G

DomainStartEndE-ValueType
CH 37 153 5.69e-15 SMART
low complexity region 167 178 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000208711
AA Change: D63G

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 A T 8: 25,276,229 (GRCm39) Y479* probably null Het
Btnl6 T C 17: 34,727,288 (GRCm39) N414S probably benign Het
Ccdc180 A G 4: 45,921,005 (GRCm39) N984D probably damaging Het
Cfc1 A T 1: 34,576,203 (GRCm39) probably benign Het
Chrm1 G A 19: 8,655,675 (GRCm39) V127M probably damaging Het
Dicer1 A G 12: 104,663,294 (GRCm39) L1429P probably damaging Het
Erbb3 A G 10: 128,420,174 (GRCm39) probably null Het
Evi5 T C 5: 107,963,531 (GRCm39) E348G probably benign Het
Fat2 G A 11: 55,172,619 (GRCm39) T2698I probably damaging Het
Gm28042 A G 2: 119,865,702 (GRCm39) D313G probably damaging Het
Hivep2 T A 10: 14,007,622 (GRCm39) S1407T probably damaging Het
Ibsp T A 5: 104,450,149 (GRCm39) M19K probably damaging Het
Itih3 C T 14: 30,634,621 (GRCm39) D129N probably benign Het
Krtap4-8 A T 11: 99,671,196 (GRCm39) probably benign Het
Mertk A G 2: 128,643,210 (GRCm39) T870A probably damaging Het
Mtmr11 C A 3: 96,072,308 (GRCm39) probably benign Het
Nbas C A 12: 13,322,704 (GRCm39) probably benign Het
Nlrp4b A G 7: 10,448,355 (GRCm39) D186G probably damaging Het
Olfm3 A G 3: 114,895,579 (GRCm39) I154V possibly damaging Het
Or10a5 T A 7: 106,635,641 (GRCm39) I93N probably damaging Het
Pdk2 T C 11: 94,923,321 (GRCm39) K101R probably benign Het
Pds5a C T 5: 65,823,462 (GRCm39) D110N probably damaging Het
Pex5 A T 6: 124,380,183 (GRCm39) D288E probably benign Het
Pitrm1 A G 13: 6,618,792 (GRCm39) D655G probably benign Het
Plcz1 T C 6: 139,938,690 (GRCm39) N554S probably benign Het
Plin4 T C 17: 56,413,680 (GRCm39) Q315R probably damaging Het
Plpp5 A G 8: 26,214,215 (GRCm39) H244R probably benign Het
Ppp1r3a C T 6: 14,718,458 (GRCm39) V819I probably benign Het
Rap1b T A 10: 117,658,709 (GRCm39) R41S possibly damaging Het
Rc3h2 T A 2: 37,279,727 (GRCm39) S501C probably benign Het
Sel1l2 G T 2: 140,072,778 (GRCm39) A619D probably damaging Het
Ska3 T C 14: 58,057,968 (GRCm39) D128G possibly damaging Het
Specc1l A T 10: 75,103,342 (GRCm39) I889L probably benign Het
Ssxb5 T A X: 8,675,087 (GRCm39) N130K probably damaging Het
Tanc1 G T 2: 59,663,602 (GRCm39) G1120C probably damaging Het
Tet1 T C 10: 62,648,798 (GRCm39) Q267R possibly damaging Het
Tlr8 T A X: 166,027,152 (GRCm39) H566L possibly damaging Het
Tmem132d T A 5: 127,861,043 (GRCm39) Q1026L probably benign Het
Tmem214 G A 5: 31,030,090 (GRCm39) A296T probably benign Het
Trp53bp2 C A 1: 182,276,256 (GRCm39) P746T probably damaging Het
Uso1 A T 5: 92,335,632 (GRCm39) I547F probably damaging Het
Zfp687 A C 3: 94,918,373 (GRCm39) N466K probably damaging Het
Other mutations in Gas2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02250:Gas2 APN 7 51,537,786 (GRCm39) missense probably damaging 1.00
IGL02557:Gas2 APN 7 51,537,681 (GRCm39) missense probably damaging 0.98
IGL02656:Gas2 APN 7 51,593,492 (GRCm39) missense probably benign
R1702:Gas2 UTSW 7 51,603,089 (GRCm39) splice site probably null
R1826:Gas2 UTSW 7 51,593,421 (GRCm39) missense probably damaging 1.00
R2078:Gas2 UTSW 7 51,547,073 (GRCm39) missense probably benign 0.04
R3826:Gas2 UTSW 7 51,586,367 (GRCm39) critical splice donor site probably null
R5985:Gas2 UTSW 7 51,593,424 (GRCm39) missense probably damaging 1.00
R6510:Gas2 UTSW 7 51,593,460 (GRCm39) missense probably damaging 0.97
R7216:Gas2 UTSW 7 51,547,005 (GRCm39) missense possibly damaging 0.92
R7701:Gas2 UTSW 7 51,643,101 (GRCm39) nonsense probably null
R8178:Gas2 UTSW 7 51,547,026 (GRCm39) missense probably damaging 1.00
R9093:Gas2 UTSW 7 51,602,969 (GRCm39) missense probably damaging 1.00
R9166:Gas2 UTSW 7 51,586,323 (GRCm39) missense possibly damaging 0.82
Posted On 2015-04-16