Incidental Mutation 'R1562:Rasa2'
| ID |
170687 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rasa2
|
| Ensembl Gene |
ENSMUSG00000032413 |
| Gene Name |
RAS p21 protein activator 2 |
| Synonyms |
GAP1m, 5430433H21Rik |
| MMRRC Submission |
039601-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.180)
|
| Stock # |
R1562 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
96421353-96513665 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 96427803 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 687
(N687K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034984
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034984]
[ENSMUST00000128346]
|
| AlphaFold |
P58069 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034984
AA Change: N687K
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000034984
Gene: ENSMUSG00000032413
AA Change: N687K
| 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 |
noncoding transcript
Transcript: ENSMUST00000122752
|
| 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: ENSMUST00000188853
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 91.0%
|
| 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 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
A |
G |
2: 25,336,331 (GRCm39) |
I2201V |
probably benign |
Het |
| Adam22 |
T |
C |
5: 8,145,007 (GRCm39) |
N817S |
probably damaging |
Het |
| Alox12 |
C |
A |
11: 70,140,991 (GRCm39) |
R348L |
probably damaging |
Het |
| Asb17 |
A |
T |
3: 153,559,143 (GRCm39) |
T285S |
probably benign |
Het |
| Casp4 |
T |
C |
9: 5,324,733 (GRCm39) |
S182P |
possibly damaging |
Het |
| Cenpe |
T |
C |
3: 134,944,155 (GRCm39) |
M985T |
possibly damaging |
Het |
| Clcn1 |
C |
T |
6: 42,277,169 (GRCm39) |
P420L |
probably benign |
Het |
| Coro2a |
T |
C |
4: 46,548,917 (GRCm39) |
I126V |
probably benign |
Het |
| Cubn |
T |
C |
2: 13,432,778 (GRCm39) |
Y1181C |
probably damaging |
Het |
| Cyp2d22 |
A |
T |
15: 82,258,179 (GRCm39) |
L147Q |
probably damaging |
Het |
| Dna2 |
C |
T |
10: 62,784,966 (GRCm39) |
R28W |
probably benign |
Het |
| Ecm1 |
G |
A |
3: 95,643,275 (GRCm39) |
R342C |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,200,800 (GRCm39) |
N758S |
probably damaging |
Het |
| Fbxo43 |
T |
C |
15: 36,163,162 (GRCm39) |
D15G |
probably damaging |
Het |
| Flt3 |
T |
C |
5: 147,281,323 (GRCm39) |
E803G |
probably damaging |
Het |
| Folr1 |
T |
G |
7: 101,507,801 (GRCm39) |
D213A |
probably damaging |
Het |
| Fus |
T |
C |
7: 127,579,094 (GRCm39) |
V359A |
probably damaging |
Het |
| Gabrb3 |
C |
T |
7: 57,415,262 (GRCm39) |
R111* |
probably null |
Het |
| Gm17324 |
T |
C |
9: 78,355,964 (GRCm39) |
|
probably benign |
Het |
| Hormad2 |
A |
T |
11: 4,358,848 (GRCm39) |
|
probably null |
Het |
| Ifi27l2b |
T |
A |
12: 103,422,780 (GRCm39) |
|
probably null |
Het |
| Isg20 |
G |
T |
7: 78,569,891 (GRCm39) |
C176F |
probably benign |
Het |
| Katnip |
C |
A |
7: 125,442,020 (GRCm39) |
S643Y |
probably damaging |
Het |
| Krt15 |
C |
A |
11: 100,024,007 (GRCm39) |
V346L |
probably benign |
Het |
| Liat1 |
A |
T |
11: 75,894,024 (GRCm39) |
I134F |
probably damaging |
Het |
| Med13l |
A |
G |
5: 118,876,584 (GRCm39) |
K920R |
probably damaging |
Het |
| Mlh3 |
A |
T |
12: 85,313,694 (GRCm39) |
F831I |
probably benign |
Het |
| Mtmr9 |
A |
G |
14: 63,771,786 (GRCm39) |
S267P |
probably benign |
Het |
| Mybpc1 |
C |
T |
10: 88,389,193 (GRCm39) |
A406T |
probably damaging |
Het |
| Myh1 |
T |
C |
11: 67,102,196 (GRCm39) |
M829T |
probably benign |
Het |
| Myo10 |
A |
G |
15: 25,780,497 (GRCm39) |
Q209R |
possibly damaging |
Het |
| Nceh1 |
T |
A |
3: 27,293,701 (GRCm39) |
V153D |
probably damaging |
Het |
| Oog3 |
A |
T |
4: 143,889,169 (GRCm39) |
I3N |
probably damaging |
Het |
| Or1j19 |
A |
G |
2: 36,676,696 (GRCm39) |
D53G |
probably damaging |
Het |
| Or2ag1b |
C |
T |
7: 106,288,187 (GRCm39) |
M250I |
probably benign |
Het |
| Or4c103 |
T |
A |
2: 88,513,423 (GRCm39) |
I218F |
probably benign |
Het |
| Or8c20 |
C |
A |
9: 38,260,658 (GRCm39) |
S87* |
probably null |
Het |
| Pcnt |
G |
A |
10: 76,203,164 (GRCm39) |
T2646M |
probably benign |
Het |
| Phf10 |
A |
T |
17: 15,166,512 (GRCm39) |
C453S |
probably damaging |
Het |
| Plcb4 |
T |
A |
2: 135,812,367 (GRCm39) |
|
probably null |
Het |
| Plekhh1 |
A |
G |
12: 79,123,482 (GRCm39) |
H1185R |
probably benign |
Het |
| Prmt3 |
G |
T |
7: 49,476,602 (GRCm39) |
V404L |
probably benign |
Het |
| Ptprb |
T |
A |
10: 116,175,372 (GRCm39) |
D1122E |
probably benign |
Het |
| Rars1 |
A |
G |
11: 35,711,921 (GRCm39) |
|
probably null |
Het |
| Rbm11 |
A |
G |
16: 75,393,423 (GRCm39) |
T40A |
probably damaging |
Het |
| Rem2 |
T |
C |
14: 54,713,775 (GRCm39) |
V16A |
probably benign |
Het |
| Rlf |
A |
T |
4: 121,007,588 (GRCm39) |
M574K |
possibly damaging |
Het |
| Rpap3 |
A |
T |
15: 97,592,098 (GRCm39) |
V186D |
possibly damaging |
Het |
| Sertad3 |
G |
A |
7: 27,176,048 (GRCm39) |
E161K |
probably damaging |
Het |
| Sh3gl2 |
T |
C |
4: 85,304,130 (GRCm39) |
S278P |
probably benign |
Het |
| Strn3 |
T |
C |
12: 51,680,401 (GRCm39) |
T400A |
probably benign |
Het |
| Sycp2 |
A |
T |
2: 178,024,178 (GRCm39) |
I402N |
probably damaging |
Het |
| Synj1 |
C |
T |
16: 90,784,290 (GRCm39) |
V283I |
probably benign |
Het |
| Tas2r108 |
A |
G |
6: 40,471,000 (GRCm39) |
|
probably null |
Het |
| Ttpal |
A |
G |
2: 163,457,323 (GRCm39) |
N265S |
probably benign |
Het |
| Unc80 |
G |
A |
1: 66,677,116 (GRCm39) |
G2015D |
probably damaging |
Het |
| Upf1 |
C |
T |
8: 70,796,017 (GRCm39) |
W138* |
probably null |
Het |
| Vmn1r25 |
T |
G |
6: 57,955,786 (GRCm39) |
M168L |
probably benign |
Het |
| Vmn2r18 |
A |
T |
5: 151,510,301 (GRCm39) |
F24Y |
probably benign |
Het |
| Vmn2r4 |
G |
T |
3: 64,296,865 (GRCm39) |
T640N |
probably damaging |
Het |
| Wdr75 |
T |
A |
1: 45,843,030 (GRCm39) |
|
probably null |
Het |
| Zdbf2 |
T |
G |
1: 63,342,747 (GRCm39) |
S375R |
possibly damaging |
Het |
| Zfp648 |
A |
G |
1: 154,080,138 (GRCm39) |
Q99R |
probably benign |
Het |
| Zfp964 |
C |
T |
8: 70,115,654 (GRCm39) |
P85S |
probably benign |
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 |
|
IGL02963:Rasa2
|
APN |
9 |
96,452,838 (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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCGTCTGTCATGCTCTCACAC -3'
(R):5'- ACTGACCTGCTTACTGCACCAATTC -3'
Sequencing Primer
(F):5'- CATGCAGTCATGAGTTACTCACG -3'
(R):5'- ATTCATTCCGACACATTAGCAG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation