Incidental Mutation 'R0046:Gas2l2'
ID 15934
Institutional Source Beutler Lab
Gene Symbol Gas2l2
Ensembl Gene ENSMUSG00000020686
Gene Name growth arrest-specific 2 like 2
Synonyms OTTMUSG00000000934
MMRRC Submission 038340-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0046 (G1)
Quality Score
Status Validated
Chromosome 11
Chromosomal Location 83312728-83320281 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 83312736 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 859 (W859R)
Ref Sequence ENSEMBL: ENSMUSP00000051907 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021022] [ENSMUST00000052521] [ENSMUST00000108140] [ENSMUST00000147301] [ENSMUST00000164425] [ENSMUST00000175848]
AlphaFold Q5SSG4
Predicted Effect probably benign
Transcript: ENSMUST00000021022
SMART Domains Protein: ENSMUSP00000021022
Gene: ENSMUSG00000020684

DomainStartEndE-ValueType
Pfam:Miro 6 131 2.7e-16 PFAM
Pfam:Ras 6 178 1e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000052521
AA Change: W859R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000051907
Gene: ENSMUSG00000020686
AA Change: W859R

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
Meta Mutation Damage Score 0.0783 question?
Coding Region Coverage
  • 1x: 89.2%
  • 3x: 86.2%
  • 10x: 78.3%
  • 20x: 64.0%
Validation Efficiency 98% (86/88)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl7a A T 4: 56,743,877 (GRCm39) K135* probably null Het
Adamts16 A G 13: 70,911,579 (GRCm39) S871P probably benign Het
Adcy10 A T 1: 165,367,403 (GRCm39) I558F probably damaging Het
Adsl T G 15: 80,846,989 (GRCm39) probably null Het
Aldob T C 4: 49,543,842 (GRCm39) I47V possibly damaging Het
Alkbh8 A G 9: 3,343,247 (GRCm39) E46G probably damaging Het
Atp1a4 A T 1: 172,067,664 (GRCm39) L533Q probably benign Het
Auts2 T C 5: 131,799,624 (GRCm39) noncoding transcript Het
B3gnt3 T C 8: 72,145,567 (GRCm39) Y267C probably damaging Het
Ccdc39 A G 3: 33,898,301 (GRCm39) F15L possibly damaging Het
Cntnap5c T G 17: 58,666,295 (GRCm39) D1108E probably benign Het
Col14a1 G A 15: 55,272,359 (GRCm39) probably benign Het
Col9a3 G A 2: 180,251,280 (GRCm39) A317T possibly damaging Het
Cpt1c A T 7: 44,609,256 (GRCm39) probably benign Het
Cpt2 A G 4: 107,761,559 (GRCm39) probably null Het
Crebrf T A 17: 26,982,308 (GRCm39) L565M probably damaging Het
Dmxl1 T A 18: 50,011,149 (GRCm39) V1102E probably benign Het
Dock4 G A 12: 40,787,359 (GRCm39) probably benign Het
Dpp3 G T 19: 4,964,671 (GRCm39) N545K probably damaging Het
Elmo2 T A 2: 165,140,646 (GRCm39) N275I probably damaging Het
Farp1 A G 14: 121,492,925 (GRCm39) K509R probably benign Het
Flg T A 3: 93,185,028 (GRCm39) probably benign Het
Gatm T C 2: 122,431,225 (GRCm39) D254G probably damaging Het
Gjd4 T A 18: 9,280,998 (GRCm39) I27F probably damaging Het
Gm19410 A G 8: 36,269,799 (GRCm39) E1148G probably benign Het
Haus5 C T 7: 30,353,605 (GRCm39) V591I probably benign Het
Kcnab3 G A 11: 69,221,053 (GRCm39) probably null Het
Limk1 T C 5: 134,701,615 (GRCm39) Y96C probably damaging Het
Lrp2bp T A 8: 46,466,192 (GRCm39) Y100* probably null Het
Ly75 A T 2: 60,169,801 (GRCm39) probably benign Het
Mamstr T G 7: 45,291,194 (GRCm39) probably benign Het
Man1a A G 10: 53,795,283 (GRCm39) Y657H probably damaging Het
Marf1 G A 16: 13,929,591 (GRCm39) P1672S possibly damaging Het
Mboat7 T C 7: 3,686,817 (GRCm39) Y341C probably damaging Het
Nhsl1 A T 10: 18,401,417 (GRCm39) N881I probably damaging Het
Nox3 T C 17: 3,733,236 (GRCm39) Y225C probably benign Het
Or4c109 C T 2: 88,817,693 (GRCm39) M284I probably benign Het
Or4c35 C T 2: 89,808,851 (GRCm39) T243I probably damaging Het
Pclo C T 5: 14,590,493 (GRCm39) T931M unknown Het
Pfas G T 11: 68,881,293 (GRCm39) R1025S probably benign Het
Prg4 T C 1: 150,331,837 (GRCm39) T279A possibly damaging Het
Psma1 A T 7: 113,866,440 (GRCm39) probably benign Het
Rab11fip1 A G 8: 27,643,149 (GRCm39) L550P probably damaging Het
Rgs12 T A 5: 35,122,664 (GRCm39) I149N probably damaging Het
Rmnd5a T C 6: 71,376,215 (GRCm39) H195R probably damaging Het
Rnf17 T C 14: 56,708,830 (GRCm39) L750P probably damaging Het
Rtcb T C 10: 85,793,520 (GRCm39) N18D probably benign Het
Seh1l T C 18: 67,925,086 (GRCm39) probably null Het
Sptbn2 T C 19: 4,795,405 (GRCm39) probably benign Het
Stag3 C T 5: 138,281,285 (GRCm39) probably benign Het
Taar2 G A 10: 23,817,393 (GRCm39) R311H probably benign Het
Taok3 C T 5: 117,410,294 (GRCm39) Q829* probably null Het
Tsbp1 T C 17: 34,679,095 (GRCm39) probably null Het
Ttn A G 2: 76,781,886 (GRCm39) probably benign Het
Unc79 A G 12: 103,091,940 (GRCm39) E1756G probably damaging Het
Usp35 A T 7: 96,962,804 (GRCm39) probably null Het
Zbtb40 A G 4: 136,714,589 (GRCm39) C1067R probably damaging 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
IGL02672:Gas2l2 APN 11 83,315,957 (GRCm39) missense probably damaging 1.00
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
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 2013-01-08