Incidental Mutation 'R2085:Gas2l2'
ID 230277
Institutional Source Beutler Lab
Gene Symbol Gas2l2
Ensembl Gene ENSMUSG00000020686
Gene Name growth arrest-specific 2 like 2
Synonyms OTTMUSG00000000934
MMRRC Submission 040090-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2085 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 83312728-83320281 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 83318209 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 167 (A167S)
Ref Sequence ENSEMBL: ENSMUSP00000119454 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052521] [ENSMUST00000147301]
AlphaFold Q5SSG4
Predicted Effect probably benign
Transcript: ENSMUST00000052521
AA Change: A167S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000051907
Gene: ENSMUSG00000020686
AA Change: A167S

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: ENSMUST00000147301
AA Change: A167S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000119454
Gene: ENSMUSG00000020686
AA Change: A167S

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810408A11Rik G T 11: 69,791,198 (GRCm39) T127K possibly damaging Het
A2m T G 6: 121,653,918 (GRCm39) I1417S probably damaging Het
Acad10 A G 5: 121,787,523 (GRCm39) I142T possibly damaging Het
Adprm T A 11: 66,932,678 (GRCm39) D77V probably damaging Het
Apob C T 12: 8,062,240 (GRCm39) T3574I probably damaging Het
Bahcc1 A G 11: 120,178,908 (GRCm39) K2489R probably damaging Het
Bub1b A G 2: 118,452,676 (GRCm39) E443G possibly damaging Het
Cd9 A T 6: 125,440,734 (GRCm39) probably null Het
Cgnl1 G A 9: 71,538,160 (GRCm39) T1194M probably damaging Het
Clec9a T C 6: 129,387,274 (GRCm39) V43A probably benign Het
Col11a1 C T 3: 113,951,791 (GRCm39) R1074C probably damaging Het
Dpep3 A G 8: 106,701,346 (GRCm39) V401A probably damaging Het
Duox2 G T 2: 122,111,448 (GRCm39) H1417N probably damaging Het
Efhb C T 17: 53,733,937 (GRCm39) probably null Het
F2r T C 13: 95,741,418 (GRCm39) N39S probably benign Het
Fcamr T C 1: 130,739,335 (GRCm39) F212L probably damaging Het
Galt G A 4: 41,758,162 (GRCm39) R309Q probably damaging Het
Hecw1 A T 13: 14,438,672 (GRCm39) F904I possibly damaging Het
Herc2 C A 7: 55,862,713 (GRCm39) H4127Q possibly damaging Het
Hipk1 T C 3: 103,657,670 (GRCm39) T805A probably benign Het
Hivep1 A G 13: 42,337,226 (GRCm39) E2435G probably benign Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Hivep2 C A 10: 14,015,273 (GRCm39) C1813* probably null Het
Hyal4 C T 6: 24,755,749 (GRCm39) probably benign Het
Inpp4b A G 8: 82,678,903 (GRCm39) Y311C probably damaging Het
Itih4 A G 14: 30,614,280 (GRCm39) Y410C possibly damaging Het
Lama2 A T 10: 27,080,837 (GRCm39) C995* probably null Het
Lingo4 C A 3: 94,309,552 (GRCm39) D163E probably damaging Het
Malt1 A G 18: 65,606,218 (GRCm39) D642G probably damaging Het
Mbd4 T A 6: 115,825,918 (GRCm39) M358L probably benign Het
Mbd5 T A 2: 49,169,323 (GRCm39) F1498Y possibly damaging Het
Me1 T C 9: 86,495,607 (GRCm39) Q280R probably damaging Het
Megf9 T C 4: 70,367,004 (GRCm39) H326R probably damaging Het
Nid2 G A 14: 19,828,111 (GRCm39) G516S probably benign Het
Or13p10 T C 4: 118,523,301 (GRCm39) S196P probably damaging Het
Or1e1 T C 11: 73,245,247 (GRCm39) S223P possibly damaging Het
Or4k1 T A 14: 50,377,580 (GRCm39) N172I probably damaging Het
Or5h18 C T 16: 58,848,232 (GRCm39) V13I probably benign Het
Or8b1c A G 9: 38,384,223 (GRCm39) Y60C probably damaging Het
Polr2j T C 5: 136,145,625 (GRCm39) F7L probably damaging Het
Ppp1r16a T A 15: 76,577,796 (GRCm39) D303E probably damaging Het
Prickle2 T C 6: 92,353,345 (GRCm39) E763G probably damaging Het
Rdh11 T C 12: 79,229,556 (GRCm39) Y239C possibly damaging Het
Sdhaf3 A G 6: 6,956,048 (GRCm39) R8G probably benign Het
Sgk2 T C 2: 162,854,890 (GRCm39) S305P probably damaging Het
Sptbn2 A G 19: 4,788,587 (GRCm39) S1189G probably benign Het
Stab2 A G 10: 86,790,023 (GRCm39) L581P probably damaging Het
Tifab T C 13: 56,324,110 (GRCm39) Q111R probably damaging Het
Ubr3 C T 2: 69,784,108 (GRCm39) R775C probably damaging Het
Usp17lb T A 7: 104,489,622 (GRCm39) Q434L possibly damaging Het
Wdr46 G T 17: 34,160,425 (GRCm39) E135* probably null Het
Zfp318 T A 17: 46,720,590 (GRCm39) probably null Het
Zfp874a T A 13: 67,590,967 (GRCm39) H239L probably damaging Het
Zscan29 A T 2: 121,000,427 (GRCm39) L60* 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
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
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
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
Predicted Primers PCR Primer
(F):5'- AGTAGCGGCTGTTACATGTG -3'
(R):5'- CAACCTGAGATGCTGAGACC -3'

Sequencing Primer
(F):5'- CTCAGAGTGGAGCAGGGC -3'
(R):5'- TGAGATGCTGAGACCCGAGC -3'
Posted On 2014-09-18