Incidental Mutation 'R9396:Gas2l2'
ID 710846
Institutional Source Beutler Lab
Gene Symbol Gas2l2
Ensembl Gene ENSMUSG00000020686
Gene Name growth arrest-specific 2 like 2
Synonyms OTTMUSG00000000934
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9396 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 83312728-83320281 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 83313659 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 551 (I551N)
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 benign
Transcript: ENSMUST00000052521
AA Change: I551N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000051907
Gene: ENSMUSG00000020686
AA Change: I551N

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 0.1514 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 98% (56/57)
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
Abcg8 T A 17: 85,000,282 (GRCm39) F281I probably damaging Het
Acad8 A G 9: 26,887,041 (GRCm39) M402T probably damaging Het
Apcdd1 C T 18: 63,055,731 (GRCm39) probably benign Het
Apol7a T C 15: 77,273,925 (GRCm39) E179G possibly damaging Het
Asmt A G X: 169,110,141 (GRCm39) T217A probably benign Het
Cadm2 T C 16: 66,544,102 (GRCm39) Y318C probably damaging Het
Cckar G A 5: 53,864,623 (GRCm39) T26M probably damaging Het
Cd300ld G A 11: 114,878,230 (GRCm39) T94I probably damaging Het
Cdk5rap2 A G 4: 70,172,903 (GRCm39) Y1390H possibly damaging Het
Cdk5rap2 C T 4: 70,182,895 (GRCm39) S1268N probably damaging Het
Csrnp3 C T 2: 65,832,841 (GRCm39) R127C probably damaging Het
Dsc2 T A 18: 20,174,773 (GRCm39) R501* probably null Het
Dusp2 C T 2: 127,179,638 (GRCm39) R294C probably damaging Het
Edrf1 A G 7: 133,261,838 (GRCm39) K878E possibly damaging Het
Evc T C 5: 37,476,434 (GRCm39) T372A possibly damaging Het
Fcgr1 T A 3: 96,194,390 (GRCm39) K166* probably null Het
Fstl4 C A 11: 52,664,778 (GRCm39) P36Q probably benign Het
Hc G T 2: 34,927,615 (GRCm39) S333* probably null Het
Ibsp A G 5: 104,458,297 (GRCm39) Y278C probably damaging Het
Ifitm10 A T 7: 141,924,704 (GRCm39) V45D probably damaging Het
Kcnc3 T C 7: 44,240,937 (GRCm39) S210P possibly damaging Het
Klhl3 T G 13: 58,161,662 (GRCm39) T531P probably damaging Het
Mapt C A 11: 104,189,555 (GRCm39) P191Q possibly damaging Het
Myh9 T C 15: 77,647,496 (GRCm39) T1840A probably benign Het
Myof A T 19: 37,923,294 (GRCm39) C1320S probably damaging Het
Myom3 G T 4: 135,513,199 (GRCm39) V626L probably benign Het
Nalf2 C T X: 98,889,097 (GRCm39) R321W probably damaging Het
Ndor1 A G 2: 25,138,921 (GRCm39) L321P probably benign Het
Nhsl1 T A 10: 18,399,749 (GRCm39) M291K probably damaging Het
Nubp2 C T 17: 25,103,476 (GRCm39) V134I probably benign Het
Nuf2 T C 1: 169,337,917 (GRCm39) I287V probably benign Het
Or1d2 T A 11: 74,256,089 (GRCm39) M198K probably benign Het
Or2n1 T A 17: 38,486,421 (GRCm39) W149R probably damaging Het
Or4k42 A G 2: 111,319,864 (GRCm39) L213P probably benign Het
Or51i2 A G 7: 103,689,720 (GRCm39) N239S probably benign Het
Or55b4 A C 7: 102,134,180 (GRCm39) V49G possibly damaging Het
Or5k3 G A 16: 58,969,302 (GRCm39) V30M probably damaging Het
Or8k28 A T 2: 86,285,845 (GRCm39) C257S probably benign Het
Pals1 G T 12: 78,871,521 (GRCm39) R367L possibly damaging Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Ppp1r12a A G 10: 108,100,571 (GRCm39) E863G probably damaging Het
Pskh1 C T 8: 106,640,091 (GRCm39) T257M possibly damaging Het
Rasgef1b T C 5: 99,377,188 (GRCm39) I334V probably benign Het
Rnf180 T A 13: 105,318,027 (GRCm39) K462* probably null Het
Sin3a A G 9: 57,008,445 (GRCm39) D455G probably benign Het
Slc15a4 A G 5: 127,694,463 (GRCm39) probably benign Het
Slc2a13 T C 15: 91,227,915 (GRCm39) T426A probably benign Het
Smarca5 T C 8: 81,463,358 (GRCm39) K70R probably benign Het
Smg1 A G 7: 117,807,303 (GRCm39) V182A unknown Het
Stim1 G A 7: 102,064,592 (GRCm39) V221I possibly damaging Het
Tbx18 T C 9: 87,609,432 (GRCm39) D201G probably damaging Het
Tcf25 A G 8: 124,127,831 (GRCm39) E630G probably benign Het
Tm7sf3 T C 6: 146,523,472 (GRCm39) N135S possibly damaging Het
Togaram1 A G 12: 65,014,429 (GRCm39) N560S probably damaging Het
Unc13d A G 11: 115,966,529 (GRCm39) probably null Het
Zfp445 A C 9: 122,681,581 (GRCm39) S787A probably benign Het
Zfp949 T C 9: 88,449,260 (GRCm39) W22R 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
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
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'- GCTTGAGACCTTGTACCCTGAG -3'
(R):5'- ATTCCTCATCCCCTGGCAAAG -3'

Sequencing Primer
(F):5'- ACCTTGTACCCTGAGTGTAGGC -3'
(R):5'- TCACCAAAATCCCTATCCGGTTG -3'
Posted On 2022-04-18