Incidental Mutation 'IGL02557:Gas2'
ID 298343
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 # IGL02557
Quality Score
Status
Chromosome 7
Chromosomal Location 51511763-51644723 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 51537681 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 2 (M2K)
Ref Sequence ENSEMBL: ENSMUSP00000114743 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051912] [ENSMUST00000107591] [ENSMUST00000129604] [ENSMUST00000145049] [ENSMUST00000208711]
AlphaFold P11862
Predicted Effect probably damaging
Transcript: ENSMUST00000051912
AA Change: M2K

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000053514
Gene: ENSMUSG00000030498
AA Change: M2K

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 damaging
Transcript: ENSMUST00000107591
AA Change: M2K

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000103217
Gene: ENSMUSG00000030498
AA Change: M2K

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 damaging
Transcript: ENSMUST00000129604
AA Change: M2K

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000145049
AA Change: M2K

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000117367
Gene: ENSMUSG00000030498
AA Change: M2K

DomainStartEndE-ValueType
CH 37 153 5.69e-15 SMART
low complexity region 167 178 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000208711
AA Change: M2K

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; 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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA986860 C T 1: 130,670,444 (GRCm39) P222L probably benign Het
Alg12 T A 15: 88,700,410 (GRCm39) K9* probably null Het
Arhgap20 T C 9: 51,732,573 (GRCm39) V119A probably damaging Het
Arhgap45 T C 10: 79,857,472 (GRCm39) Y178H probably damaging Het
Atad2 A T 15: 57,985,993 (GRCm39) S243T probably benign Het
Atp13a5 A C 16: 29,066,934 (GRCm39) F1013V probably benign Het
Atp1a2 T G 1: 172,106,218 (GRCm39) T865P possibly damaging Het
Bcas2 T C 3: 103,079,183 (GRCm39) probably benign Het
Ccnk T C 12: 108,161,985 (GRCm39) S297P unknown Het
Cdk5 A T 5: 24,624,651 (GRCm39) S215T probably benign Het
Ciita T A 16: 10,329,879 (GRCm39) L798Q probably damaging Het
Clcn2 A G 16: 20,527,214 (GRCm39) S584P probably damaging Het
Cntn6 A G 6: 104,751,496 (GRCm39) Y384C probably damaging Het
Cyp2b10 T A 7: 25,614,306 (GRCm39) V260D probably benign Het
Dsel A T 1: 111,790,300 (GRCm39) H78Q probably damaging Het
Eml3 T C 19: 8,908,745 (GRCm39) probably benign Het
Fcgr2b C A 1: 170,790,891 (GRCm39) probably null Het
Fryl A T 5: 73,255,736 (GRCm39) L765Q probably damaging Het
Gm13941 T C 2: 110,931,501 (GRCm39) K44E unknown Het
Gm42878 A G 5: 121,665,194 (GRCm39) S205P possibly damaging Het
Hcn3 A T 3: 89,057,178 (GRCm39) S473R probably damaging Het
Hnrnpr A G 4: 136,046,817 (GRCm39) E65G probably damaging Het
Ints1 A T 5: 139,757,392 (GRCm39) V375E probably damaging Het
Lama5 A T 2: 179,832,725 (GRCm39) C1642* probably null Het
Lsr T G 7: 30,657,919 (GRCm39) E347A possibly damaging Het
Mapre2 C A 18: 23,966,014 (GRCm39) T33K probably damaging Het
Myo3b T A 2: 70,085,663 (GRCm39) F772I probably benign Het
Myorg C T 4: 41,497,900 (GRCm39) V577M possibly damaging Het
Nbas T C 12: 13,411,029 (GRCm39) V891A probably damaging Het
Neurl4 A T 11: 69,797,161 (GRCm39) I583F probably damaging Het
Nsd1 T C 13: 55,460,261 (GRCm39) S2163P probably damaging Het
Nup210l T C 3: 90,031,537 (GRCm39) Y288H probably damaging Het
Or10ak8 T C 4: 118,774,389 (GRCm39) T92A probably benign Het
Or4c107 A G 2: 88,789,025 (GRCm39) I72V probably benign Het
Pak1 A G 7: 97,520,794 (GRCm39) E151G probably benign Het
Phtf1 A G 3: 103,906,081 (GRCm39) N588D probably damaging Het
Prom2 T C 2: 127,371,391 (GRCm39) T756A possibly damaging Het
Ptgfrn C T 3: 100,967,952 (GRCm39) probably null Het
Seh1l T C 18: 67,922,483 (GRCm39) S279P probably benign Het
Sema3f A T 9: 107,564,411 (GRCm39) M35K probably damaging Het
Spesp1 T C 9: 62,180,416 (GRCm39) E164G possibly damaging Het
Sprr3 T C 3: 92,364,473 (GRCm39) T124A possibly damaging Het
Trim24 A C 6: 37,942,434 (GRCm39) probably null Het
Unc79 A G 12: 103,148,418 (GRCm39) probably benign Het
Vmn2r77 T A 7: 86,444,342 (GRCm39) probably benign Het
Other mutations in Gas2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02250:Gas2 APN 7 51,537,786 (GRCm39) missense probably damaging 1.00
IGL02539:Gas2 APN 7 51,547,038 (GRCm39) missense possibly damaging 0.96
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