Incidental Mutation 'IGL02963:Rasa2'
ID |
365450 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rasa2
|
Ensembl Gene |
ENSMUSG00000032413 |
Gene Name |
RAS p21 protein activator 2 |
Synonyms |
GAP1m, 5430433H21Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.196)
|
Stock # |
IGL02963
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
96421353-96513665 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 96452838 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 349
(L349F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034984
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034984]
[ENSMUST00000128346]
|
AlphaFold |
P58069 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034984
AA Change: L349F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000034984 Gene: ENSMUSG00000032413 AA Change: L349F
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
C2
|
38 |
136 |
3.78e-16 |
SMART |
C2
|
171 |
287 |
8.48e-19 |
SMART |
RasGAP
|
300 |
641 |
7.05e-140 |
SMART |
PH
|
604 |
706 |
1.98e-17 |
SMART |
BTK
|
706 |
742 |
1.39e-18 |
SMART |
low complexity region
|
824 |
838 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128346
|
SMART Domains |
Protein: ENSMUSP00000115629 Gene: ENSMUSG00000032413
Domain | Start | End | E-Value | Type |
C2
|
3 |
79 |
6.86e-5 |
SMART |
C2
|
114 |
230 |
8.48e-19 |
SMART |
RasGAP
|
243 |
584 |
7.05e-140 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144376
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190537
|
Coding Region Coverage |
|
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 is member of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
T |
A |
17: 24,603,503 (GRCm39) |
L565Q |
probably damaging |
Het |
Ap1b1 |
G |
T |
11: 4,983,738 (GRCm39) |
A664S |
possibly damaging |
Het |
Arhgap44 |
A |
T |
11: 64,922,489 (GRCm39) |
I348N |
probably damaging |
Het |
Bahcc1 |
T |
C |
11: 120,165,758 (GRCm39) |
S1005P |
possibly damaging |
Het |
Ccn1 |
A |
G |
3: 145,353,630 (GRCm39) |
Y311H |
probably damaging |
Het |
Cdh20 |
T |
A |
1: 104,861,823 (GRCm39) |
M1K |
probably null |
Het |
Cfhr4 |
G |
A |
1: 139,659,334 (GRCm39) |
Q732* |
probably null |
Het |
Cpsf3 |
T |
C |
12: 21,352,423 (GRCm39) |
S387P |
probably damaging |
Het |
Cyp2j6 |
T |
C |
4: 96,406,421 (GRCm39) |
E450G |
probably damaging |
Het |
Dusp13b |
T |
C |
14: 21,783,875 (GRCm39) |
T147A |
possibly damaging |
Het |
Eif3c |
T |
C |
7: 126,155,992 (GRCm39) |
T493A |
probably benign |
Het |
Ell2 |
T |
C |
13: 75,917,762 (GRCm39) |
V564A |
possibly damaging |
Het |
Gtf2ird1 |
T |
G |
5: 134,418,541 (GRCm39) |
E478D |
probably benign |
Het |
Gys2 |
A |
T |
6: 142,395,154 (GRCm39) |
|
probably null |
Het |
H2-T3 |
T |
C |
17: 36,500,526 (GRCm39) |
T104A |
probably damaging |
Het |
Herc1 |
T |
C |
9: 66,296,105 (GRCm39) |
S567P |
probably damaging |
Het |
Kcnq3 |
A |
T |
15: 66,157,675 (GRCm39) |
|
probably benign |
Het |
Kdm7a |
T |
C |
6: 39,120,164 (GRCm39) |
H935R |
probably damaging |
Het |
Lcat |
A |
T |
8: 106,666,588 (GRCm39) |
F311L |
probably damaging |
Het |
Manf |
A |
G |
9: 106,768,338 (GRCm39) |
S49P |
possibly damaging |
Het |
Med25 |
T |
C |
7: 44,541,680 (GRCm39) |
K37E |
probably damaging |
Het |
Ms4a4b |
T |
A |
19: 11,432,062 (GRCm39) |
I61K |
probably damaging |
Het |
Muc5b |
T |
C |
7: 141,418,001 (GRCm39) |
I3649T |
probably damaging |
Het |
Myo18a |
T |
G |
11: 77,732,844 (GRCm39) |
|
probably benign |
Het |
Ncoa4 |
T |
C |
14: 31,898,466 (GRCm39) |
C429R |
probably damaging |
Het |
Or14j2 |
A |
G |
17: 37,885,745 (GRCm39) |
S190P |
probably benign |
Het |
Pigk |
G |
T |
3: 152,472,098 (GRCm39) |
E337* |
probably null |
Het |
Pigz |
A |
T |
16: 31,763,353 (GRCm39) |
Y137F |
probably damaging |
Het |
Ppp1r12b |
A |
G |
1: 134,814,286 (GRCm39) |
L339P |
probably damaging |
Het |
Reep4 |
A |
G |
14: 70,785,410 (GRCm39) |
S186G |
possibly damaging |
Het |
Rfx7 |
A |
G |
9: 72,524,898 (GRCm39) |
K696R |
probably benign |
Het |
Rnf220 |
A |
G |
4: 117,347,389 (GRCm39) |
F8L |
probably damaging |
Het |
Rprm |
T |
C |
2: 53,975,226 (GRCm39) |
T31A |
probably benign |
Het |
Sez6 |
T |
A |
11: 77,853,775 (GRCm39) |
L148Q |
possibly damaging |
Het |
Sh2d6 |
C |
T |
6: 72,494,584 (GRCm39) |
V96I |
probably benign |
Het |
Slc16a9 |
G |
T |
10: 70,102,966 (GRCm39) |
V81F |
probably damaging |
Het |
Slc9a9 |
T |
A |
9: 94,902,767 (GRCm39) |
|
probably null |
Het |
Sppl3 |
T |
A |
5: 115,199,662 (GRCm39) |
L22Q |
probably damaging |
Het |
Ssc5d |
T |
C |
7: 4,947,326 (GRCm39) |
S1227P |
probably benign |
Het |
Tbc1d1 |
T |
A |
5: 64,421,709 (GRCm39) |
V238E |
probably damaging |
Het |
Tmco6 |
G |
A |
18: 36,871,798 (GRCm39) |
|
probably null |
Het |
Tyr |
A |
G |
7: 87,133,205 (GRCm39) |
V287A |
probably benign |
Het |
Uvrag |
A |
T |
7: 98,555,697 (GRCm39) |
|
probably null |
Het |
Vmn1r167 |
A |
G |
7: 23,204,975 (GRCm39) |
S14P |
possibly damaging |
Het |
Vmn1r171 |
A |
G |
7: 23,332,113 (GRCm39) |
T113A |
possibly damaging |
Het |
Wnk4 |
A |
G |
11: 101,167,039 (GRCm39) |
|
probably benign |
Het |
Zan |
T |
C |
5: 137,454,512 (GRCm39) |
T1431A |
unknown |
Het |
|
Other mutations in Rasa2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00426:Rasa2
|
APN |
9 |
96,426,913 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00661:Rasa2
|
APN |
9 |
96,459,606 (GRCm39) |
splice site |
probably benign |
|
IGL00825:Rasa2
|
APN |
9 |
96,452,772 (GRCm39) |
missense |
probably benign |
0.37 |
IGL01645:Rasa2
|
APN |
9 |
96,464,834 (GRCm39) |
nonsense |
probably null |
|
IGL02260:Rasa2
|
APN |
9 |
96,426,372 (GRCm39) |
missense |
probably benign |
0.08 |
IGL02568:Rasa2
|
APN |
9 |
96,462,563 (GRCm39) |
missense |
probably damaging |
1.00 |
R0018:Rasa2
|
UTSW |
9 |
96,454,016 (GRCm39) |
missense |
probably damaging |
1.00 |
R0018:Rasa2
|
UTSW |
9 |
96,454,016 (GRCm39) |
missense |
probably damaging |
1.00 |
R0144:Rasa2
|
UTSW |
9 |
96,474,072 (GRCm39) |
missense |
probably damaging |
0.99 |
R0238:Rasa2
|
UTSW |
9 |
96,450,460 (GRCm39) |
missense |
probably damaging |
1.00 |
R0238:Rasa2
|
UTSW |
9 |
96,450,460 (GRCm39) |
missense |
probably damaging |
1.00 |
R0295:Rasa2
|
UTSW |
9 |
96,427,863 (GRCm39) |
splice site |
probably null |
|
R0332:Rasa2
|
UTSW |
9 |
96,488,229 (GRCm39) |
missense |
probably damaging |
1.00 |
R0348:Rasa2
|
UTSW |
9 |
96,454,012 (GRCm39) |
missense |
probably damaging |
1.00 |
R0931:Rasa2
|
UTSW |
9 |
96,434,457 (GRCm39) |
missense |
possibly damaging |
0.88 |
R1067:Rasa2
|
UTSW |
9 |
96,434,376 (GRCm39) |
missense |
probably damaging |
1.00 |
R1485:Rasa2
|
UTSW |
9 |
96,426,401 (GRCm39) |
missense |
probably benign |
0.00 |
R1562:Rasa2
|
UTSW |
9 |
96,427,803 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1698:Rasa2
|
UTSW |
9 |
96,450,428 (GRCm39) |
missense |
possibly damaging |
0.56 |
R1980:Rasa2
|
UTSW |
9 |
96,452,821 (GRCm39) |
missense |
probably damaging |
0.99 |
R3055:Rasa2
|
UTSW |
9 |
96,493,526 (GRCm39) |
missense |
possibly damaging |
0.77 |
R4175:Rasa2
|
UTSW |
9 |
96,442,830 (GRCm39) |
missense |
probably benign |
0.01 |
R4258:Rasa2
|
UTSW |
9 |
96,439,433 (GRCm39) |
intron |
probably benign |
|
R4432:Rasa2
|
UTSW |
9 |
96,424,460 (GRCm39) |
unclassified |
probably benign |
|
R4636:Rasa2
|
UTSW |
9 |
96,426,390 (GRCm39) |
missense |
probably benign |
|
R4773:Rasa2
|
UTSW |
9 |
96,426,470 (GRCm39) |
missense |
probably benign |
|
R4990:Rasa2
|
UTSW |
9 |
96,474,042 (GRCm39) |
missense |
probably benign |
0.24 |
R5177:Rasa2
|
UTSW |
9 |
96,426,844 (GRCm39) |
nonsense |
probably null |
|
R5462:Rasa2
|
UTSW |
9 |
96,453,971 (GRCm39) |
missense |
probably damaging |
1.00 |
R5737:Rasa2
|
UTSW |
9 |
96,452,718 (GRCm39) |
critical splice donor site |
probably null |
|
R5775:Rasa2
|
UTSW |
9 |
96,459,521 (GRCm39) |
splice site |
probably null |
|
R5866:Rasa2
|
UTSW |
9 |
96,427,823 (GRCm39) |
missense |
probably benign |
0.00 |
R5938:Rasa2
|
UTSW |
9 |
96,493,442 (GRCm39) |
missense |
possibly damaging |
0.50 |
R6076:Rasa2
|
UTSW |
9 |
96,427,699 (GRCm39) |
missense |
probably benign |
|
R6216:Rasa2
|
UTSW |
9 |
96,426,357 (GRCm39) |
missense |
probably damaging |
1.00 |
R6743:Rasa2
|
UTSW |
9 |
96,493,493 (GRCm39) |
missense |
probably damaging |
1.00 |
R6982:Rasa2
|
UTSW |
9 |
96,442,803 (GRCm39) |
missense |
probably damaging |
1.00 |
R7350:Rasa2
|
UTSW |
9 |
96,426,408 (GRCm39) |
missense |
probably benign |
0.16 |
R7405:Rasa2
|
UTSW |
9 |
96,448,080 (GRCm39) |
missense |
probably benign |
0.09 |
R7421:Rasa2
|
UTSW |
9 |
96,493,500 (GRCm39) |
missense |
unknown |
|
R7490:Rasa2
|
UTSW |
9 |
96,448,175 (GRCm39) |
missense |
possibly damaging |
0.48 |
R7515:Rasa2
|
UTSW |
9 |
96,434,353 (GRCm39) |
splice site |
probably null |
|
R7547:Rasa2
|
UTSW |
9 |
96,493,474 (GRCm39) |
missense |
probably damaging |
1.00 |
R7557:Rasa2
|
UTSW |
9 |
96,439,478 (GRCm39) |
missense |
probably damaging |
0.98 |
R7821:Rasa2
|
UTSW |
9 |
96,462,537 (GRCm39) |
splice site |
probably null |
|
R7894:Rasa2
|
UTSW |
9 |
96,484,780 (GRCm39) |
missense |
probably benign |
0.13 |
R8089:Rasa2
|
UTSW |
9 |
96,435,177 (GRCm39) |
missense |
probably benign |
0.00 |
R8193:Rasa2
|
UTSW |
9 |
96,484,791 (GRCm39) |
missense |
probably damaging |
0.97 |
R8827:Rasa2
|
UTSW |
9 |
96,434,403 (GRCm39) |
missense |
probably damaging |
1.00 |
R8847:Rasa2
|
UTSW |
9 |
96,458,402 (GRCm39) |
missense |
possibly damaging |
0.51 |
R9043:Rasa2
|
UTSW |
9 |
96,484,770 (GRCm39) |
missense |
probably damaging |
1.00 |
R9672:Rasa2
|
UTSW |
9 |
96,427,781 (GRCm39) |
missense |
probably damaging |
1.00 |
RF017:Rasa2
|
UTSW |
9 |
96,513,521 (GRCm39) |
small insertion |
probably benign |
|
RF029:Rasa2
|
UTSW |
9 |
96,513,520 (GRCm39) |
small insertion |
probably benign |
|
RF047:Rasa2
|
UTSW |
9 |
96,513,520 (GRCm39) |
small insertion |
probably benign |
|
|
Posted On |
2015-12-18 |