Incidental Mutation 'R7074:Gas2l2'
ID 549112
Institutional Source Beutler Lab
Gene Symbol Gas2l2
Ensembl Gene ENSMUSG00000020686
Gene Name growth arrest-specific 2 like 2
Synonyms OTTMUSG00000000934
MMRRC Submission 045242-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7074 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 83312728-83320281 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 83313893 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 473 (Q473L)
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: Q473L

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000051907
Gene: ENSMUSG00000020686
AA Change: Q473L

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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
Aadacl4 A T 4: 144,340,433 (GRCm39) I53L probably benign Het
Acss2 T C 2: 155,363,961 (GRCm39) L80P possibly damaging Het
Adam3 A T 8: 25,184,363 (GRCm39) F546I probably benign Het
Adtrp A T 13: 41,981,617 (GRCm39) probably null Het
Anapc1 G T 2: 128,520,194 (GRCm39) P208T probably damaging Het
Ankrd33 A G 15: 101,017,430 (GRCm39) K281R probably benign Het
Bcl11b A G 12: 107,955,766 (GRCm39) S128P probably benign Het
Ccdc57 T C 11: 120,794,200 (GRCm39) K265E possibly damaging Het
Cep72 A G 13: 74,199,699 (GRCm39) C244R probably benign Het
Cope A G 8: 70,765,537 (GRCm39) Q303R probably benign Het
Cpd T A 11: 76,704,420 (GRCm39) N398I probably damaging Het
Cplx1 C T 5: 108,696,393 (GRCm39) probably null Het
Dixdc1 T A 9: 50,601,214 (GRCm39) E344D possibly damaging Het
Dock7 A T 4: 98,833,445 (GRCm39) F1951I unknown Het
Ell2 C A 13: 75,910,006 (GRCm39) L119M probably damaging Het
Faap24 A T 7: 35,094,527 (GRCm39) I91K possibly damaging Het
Fubp3 T C 2: 31,485,306 (GRCm39) S107P probably damaging Het
Ghr A T 15: 3,362,873 (GRCm39) Y200N probably damaging Het
Gm4950 G A 18: 51,998,521 (GRCm39) Q145* probably null Het
Gm826 C T 2: 160,153,810 (GRCm39) V78I unknown Het
Gnas G A 2: 174,126,842 (GRCm39) E126K probably damaging Het
Grip2 A T 6: 91,761,689 (GRCm39) V235E probably benign Het
Hmgcl A G 4: 135,681,178 (GRCm39) H88R probably benign Het
Htr7 A G 19: 36,034,283 (GRCm39) V124A probably damaging Het
Igf2r T A 17: 12,933,003 (GRCm39) I840F possibly damaging Het
Ints8 T C 4: 11,204,574 (GRCm39) I961V possibly damaging Het
Jmy A T 13: 93,590,439 (GRCm39) S555T probably benign Het
Klk1b27 G A 7: 43,705,977 (GRCm39) G227S probably damaging Het
Lao1 A C 4: 118,825,382 (GRCm39) T401P probably damaging Het
Lrwd1 C T 5: 136,152,511 (GRCm39) V547I probably benign Het
Mttp C A 3: 137,813,034 (GRCm39) R532L possibly damaging Het
Muc16 T C 9: 18,566,946 (GRCm39) T1858A unknown Het
Myo18a T A 11: 77,733,387 (GRCm39) D1409E probably benign Het
Ncor2 T A 5: 125,126,430 (GRCm39) R554* probably null Het
Or14j6 T A 17: 38,214,718 (GRCm39) Y94N possibly damaging Het
Or1e1b-ps1 A T 11: 73,845,975 (GRCm39) H153L probably benign Het
Or2b11 T C 11: 59,461,835 (GRCm39) T244A probably damaging Het
Or2l13b T A 16: 19,348,855 (GRCm39) I272F possibly damaging Het
Or52b1 A G 7: 104,978,475 (GRCm39) M308T probably benign Het
Prkar2b A G 12: 32,022,147 (GRCm39) Y213H probably damaging Het
Prkd3 T A 17: 79,282,236 (GRCm39) K306* probably null Het
Psd2 A G 18: 36,143,737 (GRCm39) E681G probably benign Het
Sel1l2 T A 2: 140,105,362 (GRCm39) N276I probably damaging Het
Smox C T 2: 131,364,031 (GRCm39) A45V possibly damaging Het
Smyd1 A G 6: 71,214,359 (GRCm39) V214A probably damaging Het
Spag5 T C 11: 78,195,868 (GRCm39) probably null Het
Trem3 C T 17: 48,556,909 (GRCm39) R127W probably damaging Het
Ttn G A 2: 76,748,425 (GRCm39) T4208I probably benign Het
Tubgcp6 A G 15: 89,004,839 (GRCm39) F260S probably damaging Het
Vmn1r51 A T 6: 90,106,654 (GRCm39) D190V probably benign Het
Zc3h14 A G 12: 98,724,859 (GRCm39) I174V possibly damaging Het
Zfp423 G A 8: 88,509,060 (GRCm39) T428I probably benign Het
Zfp608 T A 18: 55,030,454 (GRCm39) N1162I possibly damaging Het
Zmym5 T C 14: 57,042,255 (GRCm39) M8V probably benign 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
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'- AGAGTGATGCCCATGTGTG -3'
(R):5'- AGAGGAAGGACTCCCACATTG -3'

Sequencing Primer
(F):5'- GATCTATCCAGGTTCCCTTCGAGG -3'
(R):5'- CCACATTGTGGGTTCACA -3'
Posted On 2019-05-15