Incidental Mutation 'R4692:Arhgap20'
ID |
354980 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgap20
|
Ensembl Gene |
ENSMUSG00000053199 |
Gene Name |
Rho GTPase activating protein 20 |
Synonyms |
6530403F17Rik, A530023E23Rik |
MMRRC Submission |
041943-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.329)
|
Stock # |
R4692 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
51676651-51765158 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 51697088 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 53
(D53G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000065633
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065496]
[ENSMUST00000130405]
|
AlphaFold |
Q6IFT4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000065496
AA Change: D53G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000065633 Gene: ENSMUSG00000053199 AA Change: D53G
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: ENSMUST00000124907
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000130405
AA Change: D17G
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000120124 Gene: ENSMUSG00000053199 AA Change: D17G
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
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
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 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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310057J18Rik |
A |
T |
10: 28,849,882 (GRCm39) |
Y230* |
probably null |
Het |
9230104M06Rik |
A |
T |
12: 112,963,692 (GRCm39) |
|
probably benign |
Het |
Arl2 |
T |
C |
19: 6,187,776 (GRCm39) |
T54A |
probably damaging |
Het |
Baz2a |
G |
A |
10: 127,960,762 (GRCm39) |
G1521S |
probably damaging |
Het |
Begain |
A |
G |
12: 108,999,818 (GRCm39) |
S523P |
probably damaging |
Het |
Car10 |
T |
C |
11: 93,075,984 (GRCm39) |
|
probably null |
Het |
Cenpe |
A |
G |
3: 134,922,140 (GRCm39) |
I66V |
probably benign |
Het |
Col14a1 |
T |
A |
15: 55,286,864 (GRCm39) |
V895E |
unknown |
Het |
Coro1b |
T |
C |
19: 4,199,418 (GRCm39) |
Y26H |
probably damaging |
Het |
Crebbp |
T |
C |
16: 3,932,727 (GRCm39) |
E1017G |
possibly damaging |
Het |
Cwf19l2 |
T |
C |
9: 3,428,709 (GRCm39) |
S232P |
probably damaging |
Het |
Cyp7b1 |
T |
A |
3: 18,126,728 (GRCm39) |
I473F |
probably damaging |
Het |
Efcab5 |
A |
T |
11: 77,004,507 (GRCm39) |
I937N |
probably damaging |
Het |
Fam53c |
A |
C |
18: 34,901,743 (GRCm39) |
E220A |
probably damaging |
Het |
Gsn |
A |
G |
2: 35,188,883 (GRCm39) |
Y434C |
probably damaging |
Het |
Igkv2-137 |
T |
C |
6: 67,532,971 (GRCm39) |
S45P |
possibly damaging |
Het |
Katnip |
T |
C |
7: 125,466,841 (GRCm39) |
|
probably null |
Het |
Kif13b |
C |
A |
14: 65,041,024 (GRCm39) |
T1704K |
probably benign |
Het |
Mapk7 |
A |
G |
11: 61,380,068 (GRCm39) |
S697P |
possibly damaging |
Het |
Mrgpra1 |
T |
A |
7: 46,985,446 (GRCm39) |
I78F |
probably damaging |
Het |
N6amt1 |
T |
C |
16: 87,153,854 (GRCm39) |
V97A |
possibly damaging |
Het |
Oas3 |
T |
C |
5: 120,907,420 (GRCm39) |
T406A |
probably benign |
Het |
Or4f61 |
A |
G |
2: 111,923,026 (GRCm39) |
S7P |
probably damaging |
Het |
Or8c17 |
C |
T |
9: 38,179,826 (GRCm39) |
Q6* |
probably null |
Het |
Paxip1 |
T |
C |
5: 27,977,095 (GRCm39) |
|
probably benign |
Het |
Pfn4 |
A |
T |
12: 4,824,486 (GRCm39) |
Y71F |
probably damaging |
Het |
Plin4 |
C |
A |
17: 56,410,762 (GRCm39) |
G1090C |
probably damaging |
Het |
Ptk2b |
C |
T |
14: 66,394,518 (GRCm39) |
G859S |
probably benign |
Het |
Rbl2 |
T |
A |
8: 91,849,047 (GRCm39) |
D1084E |
probably damaging |
Het |
Robo1 |
T |
G |
16: 72,757,090 (GRCm39) |
S350R |
probably damaging |
Het |
Sbno2 |
A |
G |
10: 79,922,161 (GRCm39) |
V4A |
possibly damaging |
Het |
Sh3rf1 |
T |
C |
8: 61,806,888 (GRCm39) |
|
probably null |
Het |
Smgc |
T |
C |
15: 91,738,764 (GRCm39) |
V474A |
possibly damaging |
Het |
Snx13 |
A |
G |
12: 35,136,917 (GRCm39) |
D126G |
possibly damaging |
Het |
Sox9 |
C |
A |
11: 112,673,803 (GRCm39) |
H131Q |
probably benign |
Het |
Spag6 |
T |
C |
2: 18,704,054 (GRCm39) |
I34T |
probably benign |
Het |
Speer2 |
T |
A |
16: 69,654,860 (GRCm39) |
T202S |
possibly damaging |
Het |
Sspo |
T |
A |
6: 48,459,621 (GRCm39) |
C3327S |
probably damaging |
Het |
Vcpip1 |
G |
T |
1: 9,818,299 (GRCm39) |
A28E |
unknown |
Het |
Vstm5 |
A |
T |
9: 15,168,718 (GRCm39) |
D94V |
probably damaging |
Het |
Zfp329 |
T |
C |
7: 12,544,559 (GRCm39) |
K322E |
probably damaging |
Het |
Zfp932 |
G |
A |
5: 110,157,052 (GRCm39) |
G250D |
probably damaging |
Het |
Zscan26 |
A |
G |
13: 21,629,427 (GRCm39) |
C359R |
probably damaging |
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 |
R0931:Arhgap20
|
UTSW |
9 |
51,728,041 (GRCm39) |
missense |
probably benign |
0.30 |
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 |
|
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'- AAAACGGCTTGTACCTCACG -3'
(R):5'- AGAATGTCACAGGTCACAATTCC -3'
Sequencing Primer
(F):5'- CCTAAAGGTGGCTGCTTTAGATCC -3'
(R):5'- TCCTATCACCAAGAAAATGCTGGTG -3'
|
Posted On |
2015-10-21 |