Incidental Mutation 'IGL02672:Gas2l2'
ID 302959
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gas2l2
Ensembl Gene ENSMUSG00000020686
Gene Name growth arrest-specific 2 like 2
Synonyms OTTMUSG00000000934
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02672
Quality Score
Status
Chromosome 11
Chromosomal Location 83312728-83320281 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 83315957 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 254 (R254H)
Ref Sequence ENSEMBL: ENSMUSP00000051907 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052521] [ENSMUST00000108140] [ENSMUST00000147301] [ENSMUST00000164425] [ENSMUST00000175848]
AlphaFold Q5SSG4
Predicted Effect probably damaging
Transcript: ENSMUST00000052521
AA Change: R254H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000051907
Gene: ENSMUSG00000020686
AA Change: R254H

DomainStartEndE-ValueType
low complexity region 4 19 N/A INTRINSIC
CH 34 154 2.15e-15 SMART
low complexity region 167 200 N/A INTRINSIC
Pfam:GAS2 206 274 1.2e-35 PFAM
low complexity region 444 460 N/A INTRINSIC
low complexity region 760 775 N/A INTRINSIC
low complexity region 817 827 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108140
SMART Domains Protein: ENSMUSP00000103775
Gene: ENSMUSG00000020684

DomainStartEndE-ValueType
Pfam:Miro 6 131 2.7e-16 PFAM
Pfam:Ras 6 178 1e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147301
SMART Domains Protein: ENSMUSP00000119454
Gene: ENSMUSG00000020686

DomainStartEndE-ValueType
low complexity region 4 19 N/A INTRINSIC
CH 34 154 2.15e-15 SMART
low complexity region 167 185 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000164425
SMART Domains Protein: ENSMUSP00000132696
Gene: ENSMUSG00000020684

DomainStartEndE-ValueType
Pfam:Ras 6 178 6.6e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000175848
SMART Domains Protein: ENSMUSP00000135803
Gene: ENSMUSG00000020684

DomainStartEndE-ValueType
Pfam:Ras 6 120 2.3e-12 PFAM
Pfam:Miro 6 123 8.2e-13 PFAM
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 appears to crosslink microtubules and microfilaments and may be part of the cytoskeleton. This gene is mainly expressed in skeletal muscle. [provided by RefSeq, Jul 2011]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrn C T 4: 156,259,018 (GRCm39) probably benign Het
Alpi A G 1: 87,028,994 (GRCm39) L60P probably damaging Het
Arpc1a A C 5: 145,041,697 (GRCm39) I327L probably damaging Het
Col5a1 C T 2: 27,864,727 (GRCm39) A737V unknown Het
Dcaf7 T C 11: 105,945,684 (GRCm39) probably benign Het
Dnah9 T G 11: 65,818,427 (GRCm39) I3304L probably benign Het
Dpp10 T A 1: 123,304,376 (GRCm39) H508L probably benign Het
Dync1i1 A G 6: 5,767,034 (GRCm39) D86G probably benign Het
Enpp7 T C 11: 118,883,166 (GRCm39) probably null Het
Fbxw9 C A 8: 85,792,682 (GRCm39) probably null Het
Foxred2 A G 15: 77,829,777 (GRCm39) probably null Het
Gatad2b C T 3: 90,249,198 (GRCm39) L79F possibly damaging Het
Igf1r A T 7: 67,839,781 (GRCm39) D696V probably benign Het
Kcnk5 A G 14: 20,196,580 (GRCm39) I96T probably damaging Het
Lrrc8c C T 5: 105,755,224 (GRCm39) T333M possibly damaging Het
Mcm10 T C 2: 5,006,092 (GRCm39) T417A probably benign Het
Mesp2 T C 7: 79,461,145 (GRCm39) S157P probably benign Het
Naca A G 10: 127,876,152 (GRCm39) probably benign Het
Or5t17 A T 2: 86,832,417 (GRCm39) M35L probably benign Het
Osgepl1 A G 1: 53,359,270 (GRCm39) T260A probably benign Het
Otop1 T C 5: 38,435,170 (GRCm39) probably null Het
Pdk1 T C 2: 71,726,096 (GRCm39) S335P probably damaging Het
Phkb A G 8: 86,668,987 (GRCm39) N338S probably benign Het
Pogz G A 3: 94,763,410 (GRCm39) V61I probably benign Het
Ppp4r1 A G 17: 66,147,942 (GRCm39) Y928C probably damaging Het
Rab17 T C 1: 90,886,940 (GRCm39) E160G probably damaging Het
Rasgrp3 T A 17: 75,803,412 (GRCm39) F70Y probably benign Het
Rere T A 4: 150,594,483 (GRCm39) N364K unknown Het
Ryr1 A T 7: 28,703,944 (GRCm39) probably benign Het
Sae1 A G 7: 16,104,273 (GRCm39) V112A probably damaging Het
Serpinb6d C T 13: 33,855,372 (GRCm39) H349Y probably benign Het
Slc12a1 T C 2: 125,012,596 (GRCm39) V286A probably damaging Het
Smad3 A T 9: 63,575,009 (GRCm39) probably null Het
Sox8 T A 17: 25,787,963 (GRCm39) D162V probably damaging Het
Sptbn1 A G 11: 30,087,239 (GRCm39) F1067L probably damaging Het
Tmprss3 T C 17: 31,409,981 (GRCm39) Y211C probably damaging Het
Top2b T C 14: 16,409,166 (GRCm38) probably benign Het
Tpp1 A T 7: 105,396,168 (GRCm39) H510Q probably benign Het
Ugcg T A 4: 59,218,587 (GRCm39) probably benign Het
Vmn2r96 T A 17: 18,818,376 (GRCm39) I651N probably benign Het
Wdr25 A T 12: 108,864,007 (GRCm39) K51* probably null Het
Other mutations in Gas2l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01860:Gas2l2 APN 11 83,312,906 (GRCm39) missense probably benign 0.05
IGL02304:Gas2l2 APN 11 83,315,064 (GRCm39) unclassified probably benign
IGL02695:Gas2l2 APN 11 83,313,468 (GRCm39) missense probably damaging 1.00
IGL03375:Gas2l2 APN 11 83,317,036 (GRCm39) splice site probably benign
R0046:Gas2l2 UTSW 11 83,312,736 (GRCm39) missense probably damaging 1.00
R0046:Gas2l2 UTSW 11 83,312,736 (GRCm39) missense probably damaging 1.00
R0081:Gas2l2 UTSW 11 83,313,693 (GRCm39) missense possibly damaging 0.95
R0183:Gas2l2 UTSW 11 83,319,882 (GRCm39) missense probably benign 0.36
R0383:Gas2l2 UTSW 11 83,313,923 (GRCm39) missense probably benign 0.06
R1157:Gas2l2 UTSW 11 83,314,154 (GRCm39) missense probably benign 0.00
R1439:Gas2l2 UTSW 11 83,318,298 (GRCm39) missense probably damaging 1.00
R1453:Gas2l2 UTSW 11 83,312,907 (GRCm39) missense probably benign 0.02
R2071:Gas2l2 UTSW 11 83,312,775 (GRCm39) missense probably benign
R2085:Gas2l2 UTSW 11 83,318,209 (GRCm39) missense probably benign
R2310:Gas2l2 UTSW 11 83,318,265 (GRCm39) missense possibly damaging 0.92
R4619:Gas2l2 UTSW 11 83,313,924 (GRCm39) missense probably benign 0.01
R4620:Gas2l2 UTSW 11 83,313,924 (GRCm39) missense probably benign 0.01
R4655:Gas2l2 UTSW 11 83,314,001 (GRCm39) missense possibly damaging 0.92
R4755:Gas2l2 UTSW 11 83,320,193 (GRCm39) missense probably damaging 0.99
R4897:Gas2l2 UTSW 11 83,320,041 (GRCm39) missense probably damaging 1.00
R6466:Gas2l2 UTSW 11 83,320,179 (GRCm39) missense probably damaging 1.00
R6705:Gas2l2 UTSW 11 83,313,462 (GRCm39) nonsense probably null
R7074:Gas2l2 UTSW 11 83,313,893 (GRCm39) missense probably benign 0.14
R7179:Gas2l2 UTSW 11 83,313,288 (GRCm39) missense probably benign 0.09
R7343:Gas2l2 UTSW 11 83,312,816 (GRCm39) nonsense probably null
R7554:Gas2l2 UTSW 11 83,315,236 (GRCm39) nonsense probably null
R7748:Gas2l2 UTSW 11 83,313,224 (GRCm39) missense probably benign 0.00
R7772:Gas2l2 UTSW 11 83,320,103 (GRCm39) missense possibly damaging 0.79
R7869:Gas2l2 UTSW 11 83,312,816 (GRCm39) nonsense probably null
R7953:Gas2l2 UTSW 11 83,314,070 (GRCm39) missense possibly damaging 0.84
R8552:Gas2l2 UTSW 11 83,312,907 (GRCm39) missense probably benign 0.02
R8768:Gas2l2 UTSW 11 83,313,999 (GRCm39) missense probably benign 0.44
R9137:Gas2l2 UTSW 11 83,315,894 (GRCm39) missense probably damaging 0.99
R9396:Gas2l2 UTSW 11 83,313,659 (GRCm39) missense probably benign 0.00
R9461:Gas2l2 UTSW 11 83,313,031 (GRCm39) missense probably damaging 1.00
R9694:Gas2l2 UTSW 11 83,314,170 (GRCm39) missense possibly damaging 0.50
X0021:Gas2l2 UTSW 11 83,318,266 (GRCm39) missense probably benign 0.24
Posted On 2015-04-16