Incidental Mutation 'R0931:Arhgap20'
| ID |
80891 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap20
|
| Ensembl Gene |
ENSMUSG00000053199 |
| Gene Name |
Rho GTPase activating protein 20 |
| Synonyms |
6530403F17Rik, A530023E23Rik |
| MMRRC Submission |
039075-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.329)
|
| Stock # |
R0931 (G1)
|
| Quality Score |
204 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
51676651-51765158 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 51728041 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 85
(T85A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065633
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065496]
[ENSMUST00000130405]
|
| AlphaFold |
Q6IFT4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065496
AA Change: T85A
PolyPhen 2
Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000065633
Gene: ENSMUSG00000053199
AA Change: T85A
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
86 |
187 |
3.31e-5 |
SMART |
|
Pfam:RA
|
194 |
283 |
3.6e-15 |
PFAM |
|
RhoGAP
|
374 |
548 |
1.27e-41 |
SMART |
|
internal_repeat_1
|
655 |
779 |
9.97e-15 |
PROSPERO |
|
internal_repeat_1
|
797 |
922 |
9.97e-15 |
PROSPERO |
|
low complexity region
|
935 |
962 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126567
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130405
AA Change: T49A
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000120124
Gene: ENSMUSG00000053199
AA Change: T49A
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
50 |
151 |
3.31e-5 |
SMART |
|
Pfam:RA
|
158 |
247 |
3.3e-14 |
PFAM |
|
RhoGAP
|
338 |
512 |
1.27e-41 |
SMART |
|
internal_repeat_1
|
619 |
743 |
7.07e-15 |
PROSPERO |
|
internal_repeat_1
|
761 |
886 |
7.07e-15 |
PROSPERO |
|
low complexity region
|
899 |
926 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146509
|
| Meta Mutation Damage Score |
0.1371 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 96.0%
|
| Validation Efficiency |
100% (42/42) |
| 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 an activator of RHO-type GTPases, transducing a signal from RAP1 to RHO and impacting neurite outgrowth. [provided by RefSeq, Sep 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
G |
A |
4: 86,168,084 (GRCm39) |
A476T |
probably benign |
Het |
| Ajm1 |
T |
C |
2: 25,468,501 (GRCm39) |
E470G |
possibly damaging |
Het |
| Aknad1 |
T |
C |
3: 108,659,339 (GRCm39) |
S118P |
probably damaging |
Het |
| Astn2 |
A |
G |
4: 65,566,530 (GRCm39) |
L824P |
probably damaging |
Het |
| Ccr1 |
C |
A |
9: 123,763,827 (GRCm39) |
K234N |
probably damaging |
Het |
| Cfap46 |
T |
C |
7: 139,235,757 (GRCm39) |
R203G |
probably damaging |
Het |
| Col8a1 |
A |
G |
16: 57,448,931 (GRCm39) |
I193T |
unknown |
Het |
| Cpa2 |
T |
C |
6: 30,552,070 (GRCm39) |
|
probably benign |
Het |
| Crabp1 |
T |
C |
9: 54,675,717 (GRCm39) |
L100P |
possibly damaging |
Het |
| Cspp1 |
A |
T |
1: 10,174,511 (GRCm39) |
R655W |
probably damaging |
Het |
| Ddx1 |
A |
T |
12: 13,287,818 (GRCm39) |
|
probably benign |
Het |
| Dnah7b |
T |
G |
1: 46,138,772 (GRCm39) |
|
probably benign |
Het |
| Dzip3 |
A |
G |
16: 48,771,921 (GRCm39) |
S583P |
probably damaging |
Het |
| Exosc1 |
A |
G |
19: 41,921,676 (GRCm39) |
|
probably benign |
Het |
| Fhip1a |
A |
G |
3: 85,580,550 (GRCm39) |
S552P |
probably benign |
Het |
| Gas7 |
A |
T |
11: 67,543,751 (GRCm39) |
|
probably benign |
Het |
| Gss |
A |
T |
2: 155,409,609 (GRCm39) |
|
probably benign |
Het |
| Hdhd3 |
G |
A |
4: 62,417,757 (GRCm39) |
R140* |
probably null |
Het |
| Irx2 |
T |
A |
13: 72,779,675 (GRCm39) |
S320T |
possibly damaging |
Het |
| Kcnf1 |
T |
C |
12: 17,225,142 (GRCm39) |
S360G |
possibly damaging |
Het |
| Klk1b4 |
T |
C |
7: 43,860,480 (GRCm39) |
L166P |
probably damaging |
Het |
| Klri1 |
A |
T |
6: 129,674,381 (GRCm39) |
|
probably benign |
Het |
| Mettl27 |
T |
C |
5: 134,963,285 (GRCm39) |
|
probably benign |
Het |
| Myrfl |
T |
A |
10: 116,675,354 (GRCm39) |
H193L |
probably benign |
Het |
| Nbas |
C |
T |
12: 13,381,115 (GRCm39) |
|
probably benign |
Het |
| Or10ac1 |
C |
A |
6: 42,515,020 (GRCm39) |
R312L |
probably benign |
Het |
| Or52b2 |
A |
T |
7: 104,986,736 (GRCm39) |
Y62* |
probably null |
Het |
| Papolg |
A |
G |
11: 23,832,257 (GRCm39) |
I177T |
probably damaging |
Het |
| Pdcd1 |
A |
G |
1: 93,967,238 (GRCm39) |
V220A |
probably benign |
Het |
| Psmc1 |
T |
C |
12: 100,085,341 (GRCm39) |
L234P |
probably damaging |
Het |
| Rasa2 |
A |
T |
9: 96,434,457 (GRCm39) |
M610K |
possibly damaging |
Het |
| Ryr3 |
A |
G |
2: 112,484,047 (GRCm39) |
F3930S |
probably damaging |
Het |
| Sacs |
G |
A |
14: 61,440,944 (GRCm39) |
V997I |
probably benign |
Het |
| Setdb2 |
A |
G |
14: 59,660,945 (GRCm39) |
|
probably benign |
Het |
| Ssu2 |
C |
A |
6: 112,361,359 (GRCm39) |
L32F |
probably damaging |
Het |
| Taar1 |
A |
T |
10: 23,797,181 (GRCm39) |
N293I |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,611,846 (GRCm39) |
|
probably benign |
Het |
| Vmn2r49 |
T |
C |
7: 9,720,325 (GRCm39) |
M389V |
possibly damaging |
Het |
| Wdr7 |
T |
C |
18: 63,998,371 (GRCm39) |
V1106A |
probably benign |
Het |
| Zfp324 |
A |
G |
7: 12,700,185 (GRCm39) |
I15V |
probably benign |
Het |
|
| Other mutations in Arhgap20 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00815:Arhgap20
|
APN |
9 |
51,760,713 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01542:Arhgap20
|
APN |
9 |
51,750,187 (GRCm39) |
missense |
probably benign |
|
|
IGL01815:Arhgap20
|
APN |
9 |
51,757,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01975:Arhgap20
|
APN |
9 |
51,761,097 (GRCm39) |
nonsense |
probably null |
|
|
IGL02041:Arhgap20
|
APN |
9 |
51,757,490 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02557:Arhgap20
|
APN |
9 |
51,732,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02602:Arhgap20
|
APN |
9 |
51,737,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02741:Arhgap20
|
APN |
9 |
51,759,945 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02792:Arhgap20
|
APN |
9 |
51,761,218 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL03166:Arhgap20
|
APN |
9 |
51,761,077 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
P0047:Arhgap20
|
UTSW |
9 |
51,760,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0115:Arhgap20
|
UTSW |
9 |
51,750,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0121:Arhgap20
|
UTSW |
9 |
51,750,251 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0539:Arhgap20
|
UTSW |
9 |
51,761,455 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0541:Arhgap20
|
UTSW |
9 |
51,760,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0551:Arhgap20
|
UTSW |
9 |
51,737,125 (GRCm39) |
splice site |
probably benign |
|
|
R0570:Arhgap20
|
UTSW |
9 |
51,751,751 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R0630:Arhgap20
|
UTSW |
9 |
51,760,684 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0992:Arhgap20
|
UTSW |
9 |
51,728,086 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1052:Arhgap20
|
UTSW |
9 |
51,757,570 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1779:Arhgap20
|
UTSW |
9 |
51,761,215 (GRCm39) |
missense |
probably benign |
|
|
R1839:Arhgap20
|
UTSW |
9 |
51,760,626 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1942:Arhgap20
|
UTSW |
9 |
51,742,998 (GRCm39) |
missense |
probably benign |
0.43 |
|
R2292:Arhgap20
|
UTSW |
9 |
51,760,743 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R3896:Arhgap20
|
UTSW |
9 |
51,728,137 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4109:Arhgap20
|
UTSW |
9 |
51,727,985 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R4166:Arhgap20
|
UTSW |
9 |
51,738,135 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4631:Arhgap20
|
UTSW |
9 |
51,751,653 (GRCm39) |
intron |
probably benign |
|
|
R4692:Arhgap20
|
UTSW |
9 |
51,697,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5273:Arhgap20
|
UTSW |
9 |
51,759,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5505:Arhgap20
|
UTSW |
9 |
51,750,248 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5743:Arhgap20
|
UTSW |
9 |
51,728,027 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5847:Arhgap20
|
UTSW |
9 |
51,736,276 (GRCm39) |
intron |
probably benign |
|
|
R6006:Arhgap20
|
UTSW |
9 |
51,761,426 (GRCm39) |
missense |
probably benign |
|
|
R6112:Arhgap20
|
UTSW |
9 |
51,740,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6355:Arhgap20
|
UTSW |
9 |
51,755,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6576:Arhgap20
|
UTSW |
9 |
51,760,578 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6801:Arhgap20
|
UTSW |
9 |
51,759,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7130:Arhgap20
|
UTSW |
9 |
51,761,047 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7318:Arhgap20
|
UTSW |
9 |
51,751,802 (GRCm39) |
missense |
probably benign |
|
|
R7347:Arhgap20
|
UTSW |
9 |
51,760,335 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7500:Arhgap20
|
UTSW |
9 |
51,751,802 (GRCm39) |
missense |
probably benign |
|
|
R7598:Arhgap20
|
UTSW |
9 |
51,761,090 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7677:Arhgap20
|
UTSW |
9 |
51,751,698 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7725:Arhgap20
|
UTSW |
9 |
51,743,050 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8086:Arhgap20
|
UTSW |
9 |
51,760,563 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8122:Arhgap20
|
UTSW |
9 |
51,761,293 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8125:Arhgap20
|
UTSW |
9 |
51,738,209 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8196:Arhgap20
|
UTSW |
9 |
51,760,277 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8783:Arhgap20
|
UTSW |
9 |
51,727,967 (GRCm39) |
splice site |
probably benign |
|
|
R8972:Arhgap20
|
UTSW |
9 |
51,760,311 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9027:Arhgap20
|
UTSW |
9 |
51,754,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9427:Arhgap20
|
UTSW |
9 |
51,754,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9564:Arhgap20
|
UTSW |
9 |
51,761,413 (GRCm39) |
frame shift |
probably null |
|
|
R9741:Arhgap20
|
UTSW |
9 |
51,760,730 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Arhgap20
|
UTSW |
9 |
51,736,224 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTCAGAAAAGATACTGAGCCGCTG -3'
(R):5'- CCTTGATGGAGGCCAGACCAAGTAG -3'
Sequencing Primer
(F):5'- CAGAAAAAGAAAAAAGCCCTCGG -3'
(R):5'- CCAAGTAGAGAATGTGGTCTCC -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation