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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
Pfam:Ras
|
6 |
178 |
6.6e-25 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000175848
|
SMART Domains |
Protein: ENSMUSP00000135803 Gene: ENSMUSG00000020684
Domain | Start | End | E-Value | Type |
Pfam:Ras
|
6 |
120 |
2.3e-12 |
PFAM |
Pfam:Miro
|
6 |
123 |
8.2e-13 |
PFAM |
|
Meta Mutation Damage Score |
0.1514 |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |