Incidental Mutation 'R2310:Gas2l2'
| ID |
244749 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gas2l2
|
| Ensembl Gene |
ENSMUSG00000020686 |
| Gene Name |
growth arrest-specific 2 like 2 |
| Synonyms |
OTTMUSG00000000934 |
| MMRRC Submission |
040309-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2310 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
83312728-83320281 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 83318265 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 148
(V148A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051907
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052521]
[ENSMUST00000147301]
|
| AlphaFold |
Q5SSG4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052521
AA Change: V148A
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000051907
Gene: ENSMUSG00000020686
AA Change: V148A
| 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 |
possibly damaging
Transcript: ENSMUST00000147301
AA Change: V148A
PolyPhen 2
Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000119454
Gene: ENSMUSG00000020686
AA Change: V148A
| 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 |
|
| Meta Mutation Damage Score |
0.1046 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 94.5%
|
| Validation Efficiency |
100% (39/39) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef10l |
A |
C |
4: 140,320,429 (GRCm39) |
C136W |
probably damaging |
Het |
| Ascc3 |
T |
A |
10: 50,624,988 (GRCm39) |
H1625Q |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cpa3 |
C |
T |
3: 20,281,387 (GRCm39) |
C173Y |
probably damaging |
Het |
| Cyp2c65 |
A |
G |
19: 39,081,826 (GRCm39) |
T451A |
probably benign |
Het |
| Ddx41 |
G |
A |
13: 55,682,293 (GRCm39) |
R205W |
possibly damaging |
Het |
| Efhd1 |
T |
C |
1: 87,192,350 (GRCm39) |
L60P |
probably damaging |
Het |
| Flrt2 |
A |
G |
12: 95,746,864 (GRCm39) |
T401A |
probably benign |
Het |
| Frmd4a |
GAA |
G |
2: 4,577,210 (GRCm39) |
|
probably null |
Het |
| Golga5 |
A |
G |
12: 102,458,420 (GRCm39) |
E621G |
probably damaging |
Het |
| Gsap |
A |
T |
5: 21,401,088 (GRCm39) |
R74* |
probably null |
Het |
| Intu |
C |
T |
3: 40,608,243 (GRCm39) |
A85V |
probably benign |
Het |
| Kansl3 |
T |
A |
1: 36,382,445 (GRCm39) |
I860F |
probably damaging |
Het |
| Kif23 |
A |
G |
9: 61,831,426 (GRCm39) |
S715P |
probably damaging |
Het |
| Map3k8 |
A |
T |
18: 4,349,001 (GRCm39) |
C106S |
probably benign |
Het |
| Mcc |
T |
C |
18: 44,564,433 (GRCm39) |
E934G |
probably damaging |
Het |
| Mrpl19 |
A |
T |
6: 81,941,054 (GRCm39) |
|
probably null |
Het |
| Msl3l2 |
C |
A |
10: 55,991,421 (GRCm39) |
R49S |
probably benign |
Het |
| Muc6 |
T |
A |
7: 141,217,444 (GRCm39) |
I2410F |
possibly damaging |
Het |
| Or2t6 |
A |
G |
14: 14,175,836 (GRCm38) |
V82A |
probably benign |
Het |
| Or4a73 |
A |
G |
2: 89,420,794 (GRCm39) |
S222P |
probably damaging |
Het |
| Pip5k1c |
T |
G |
10: 81,142,142 (GRCm39) |
S117R |
probably damaging |
Het |
| Ppfia2 |
T |
C |
10: 106,690,841 (GRCm39) |
S561P |
probably damaging |
Het |
| Pramel13 |
A |
T |
4: 144,119,475 (GRCm39) |
|
probably null |
Het |
| Rassf5 |
A |
T |
1: 131,172,477 (GRCm39) |
W131R |
probably damaging |
Het |
| Shq1 |
C |
T |
6: 100,607,963 (GRCm39) |
W316* |
probably null |
Het |
| Slc45a4 |
A |
G |
15: 73,461,409 (GRCm39) |
Y87H |
probably damaging |
Het |
| Sptbn2 |
A |
G |
19: 4,768,963 (GRCm39) |
D32G |
probably benign |
Het |
| Tjp1 |
C |
T |
7: 64,979,490 (GRCm39) |
R345Q |
possibly damaging |
Het |
| Tnrc18 |
C |
G |
5: 142,774,308 (GRCm39) |
V174L |
probably damaging |
Het |
| Trmt6 |
G |
T |
2: 132,650,832 (GRCm39) |
P259T |
probably damaging |
Het |
| Ubap1 |
T |
A |
4: 41,379,341 (GRCm39) |
V185E |
possibly damaging |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
| Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
| Wnk2 |
T |
C |
13: 49,204,053 (GRCm39) |
T1979A |
probably damaging |
Het |
| Xirp2 |
A |
G |
2: 67,356,591 (GRCm39) |
D3784G |
probably benign |
Het |
| Zfp119a |
A |
T |
17: 56,172,440 (GRCm39) |
Y468N |
probably benign |
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 |
|
|
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'- AACCTGAGATGCTGAGACCC -3'
Sequencing Primer
(F):5'- AGGCAGGGCACATGTTC -3'
(R):5'- AGATGCTGAGACCCGAGCC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation