Incidental Mutation 'R9027:Arhgap20'
| ID |
686806 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap20
|
| Ensembl Gene |
ENSMUSG00000053199 |
| Gene Name |
Rho GTPase activating protein 20 |
| Synonyms |
6530403F17Rik, A530023E23Rik |
| MMRRC Submission |
068856-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.329)
|
| Stock # |
R9027 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
51676651-51765158 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 51754977 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 439
(R439S)
|
| 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: R439S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000065633
Gene: ENSMUSG00000053199
AA Change: R439S
| 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 |
probably damaging
Transcript: ENSMUST00000130405
AA Change: R403S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120124
Gene: ENSMUSG00000053199
AA Change: R403S
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (59/60) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam1b |
C |
A |
5: 121,640,788 (GRCm39) |
E86* |
probably null |
Het |
| Ahnak |
T |
G |
19: 8,984,617 (GRCm39) |
I1967S |
possibly damaging |
Het |
| Alox12e |
A |
G |
11: 70,212,600 (GRCm39) |
V83A |
possibly damaging |
Het |
| Arl1 |
A |
G |
10: 88,569,458 (GRCm39) |
I20V |
probably damaging |
Het |
| Atad2 |
T |
C |
15: 57,995,628 (GRCm39) |
D93G |
probably benign |
Het |
| Btbd7 |
T |
G |
12: 102,804,838 (GRCm39) |
K67N |
probably damaging |
Het |
| C130050O18Rik |
A |
G |
5: 139,400,301 (GRCm39) |
N118S |
probably benign |
Het |
| Ccz1 |
A |
C |
5: 143,946,120 (GRCm39) |
|
probably benign |
Het |
| Cdk19 |
A |
G |
10: 40,355,728 (GRCm39) |
S479G |
unknown |
Het |
| Chrd |
A |
G |
16: 20,555,737 (GRCm39) |
T503A |
probably damaging |
Het |
| Clca4b |
G |
A |
3: 144,617,827 (GRCm39) |
R759* |
probably null |
Het |
| Cpa5 |
G |
T |
6: 30,612,604 (GRCm39) |
M1I |
probably null |
Het |
| Cr2 |
A |
T |
1: 194,834,029 (GRCm39) |
I920N |
probably benign |
Het |
| Crmp1 |
C |
A |
5: 37,437,947 (GRCm39) |
Y430* |
probably null |
Het |
| Dars1 |
A |
T |
1: 128,296,163 (GRCm39) |
V390D |
possibly damaging |
Het |
| Dmtn |
A |
G |
14: 70,853,555 (GRCm39) |
S85P |
probably damaging |
Het |
| Ermardl1 |
A |
G |
17: 15,242,364 (GRCm39) |
E416G |
unknown |
Het |
| Fancm |
C |
A |
12: 65,122,605 (GRCm39) |
D42E |
probably damaging |
Het |
| Gabrg3 |
T |
A |
7: 56,423,122 (GRCm39) |
Y192F |
possibly damaging |
Het |
| Gpr3 |
A |
T |
4: 132,938,209 (GRCm39) |
Y154* |
probably null |
Het |
| Huwe1 |
G |
A |
X: 150,716,084 (GRCm39) |
R4331Q |
unknown |
Het |
| Ints5 |
C |
A |
19: 8,873,322 (GRCm39) |
P427Q |
possibly damaging |
Het |
| Jhy |
A |
T |
9: 40,828,823 (GRCm39) |
V361D |
probably benign |
Het |
| Klhl33 |
G |
A |
14: 51,130,322 (GRCm39) |
Q131* |
probably null |
Het |
| Lama2 |
A |
T |
10: 27,080,881 (GRCm39) |
C981S |
probably damaging |
Het |
| Mks1 |
C |
A |
11: 87,748,041 (GRCm39) |
L225I |
probably damaging |
Het |
| Ms4a20 |
A |
T |
19: 11,083,055 (GRCm39) |
Y122N |
probably damaging |
Het |
| Nfasc |
T |
A |
1: 132,539,343 (GRCm39) |
S402C |
probably damaging |
Het |
| Or2a57 |
T |
C |
6: 43,213,358 (GRCm39) |
I272T |
possibly damaging |
Het |
| Or4k50-ps1 |
A |
T |
2: 111,522,517 (GRCm39) |
Y218F |
unknown |
Het |
| Or51g2 |
T |
C |
7: 102,622,560 (GRCm39) |
D213G |
probably damaging |
Het |
| Pbx4 |
T |
A |
8: 70,316,999 (GRCm39) |
D85E |
possibly damaging |
Het |
| Plcd1 |
T |
C |
9: 118,913,709 (GRCm39) |
T50A |
probably damaging |
Het |
| Plk5 |
C |
G |
10: 80,193,830 (GRCm39) |
R40G |
probably damaging |
Het |
| Psen2 |
C |
A |
1: 180,056,972 (GRCm39) |
E351* |
probably null |
Het |
| Rragd |
G |
A |
4: 32,996,083 (GRCm39) |
V143I |
probably damaging |
Het |
| Rsph14 |
A |
T |
10: 74,795,423 (GRCm39) |
M254K |
probably damaging |
Het |
| Selenoi |
C |
T |
5: 30,437,607 (GRCm39) |
|
probably benign |
Het |
| Six6 |
T |
C |
12: 72,986,935 (GRCm39) |
S36P |
|
Het |
| Slc12a8 |
T |
C |
16: 33,445,215 (GRCm39) |
S370P |
probably benign |
Het |
| Slc25a46 |
A |
G |
18: 31,716,432 (GRCm39) |
Y357H |
probably benign |
Het |
| Socs2 |
A |
T |
10: 95,248,948 (GRCm39) |
V55D |
probably damaging |
Het |
| Socs6 |
T |
C |
18: 88,888,852 (GRCm39) |
E21G |
probably benign |
Het |
| Spata31e4 |
C |
T |
13: 50,857,007 (GRCm39) |
Q882* |
probably null |
Het |
| Speg |
A |
T |
1: 75,365,076 (GRCm39) |
T486S |
possibly damaging |
Het |
| Spryd3 |
A |
G |
15: 102,027,843 (GRCm39) |
Y235H |
probably damaging |
Het |
| Sry |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
Y: 2,662,638 (GRCm39) |
|
probably benign |
Het |
| Stxbp5l |
T |
C |
16: 37,165,473 (GRCm39) |
K82E |
probably damaging |
Het |
| Sugt1 |
A |
G |
14: 79,825,155 (GRCm39) |
|
probably benign |
Het |
| Synm |
T |
C |
7: 67,384,440 (GRCm39) |
Y1074C |
probably damaging |
Het |
| Sytl2 |
A |
G |
7: 90,028,748 (GRCm39) |
T476A |
probably benign |
Het |
| Tbc1d1 |
T |
C |
5: 64,414,349 (GRCm39) |
S237P |
probably benign |
Het |
| Tbc1d5 |
C |
A |
17: 51,063,692 (GRCm39) |
M629I |
probably damaging |
Het |
| Tlr11 |
G |
A |
14: 50,598,749 (GRCm39) |
G245D |
probably damaging |
Het |
| Tspan4 |
T |
C |
7: 141,069,577 (GRCm39) |
V59A |
probably benign |
Het |
| Tulp4 |
T |
A |
17: 6,283,472 (GRCm39) |
V1167E |
possibly damaging |
Het |
| Usp42 |
G |
A |
5: 143,708,906 (GRCm39) |
T204M |
probably damaging |
Het |
| Vapb |
A |
G |
2: 173,617,948 (GRCm39) |
K147R |
possibly damaging |
Het |
| Vmn1r228 |
T |
C |
17: 20,997,422 (GRCm39) |
D32G |
probably benign |
Het |
| Vmn2r33 |
A |
G |
7: 7,554,168 (GRCm39) |
F795S |
probably damaging |
Het |
| Vmn2r34 |
A |
T |
7: 7,675,527 (GRCm39) |
N620K |
probably damaging |
Het |
| Vwf |
G |
T |
6: 125,643,626 (GRCm39) |
C2389F |
|
Het |
| Wdr81 |
T |
C |
11: 75,332,908 (GRCm39) |
E652G |
|
Het |
| Wdr81 |
A |
T |
11: 75,343,207 (GRCm39) |
S687T |
probably benign |
Het |
| Zcrb1 |
A |
G |
15: 93,285,456 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
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'- TCCAGAATTGAATATCCCGGTC -3'
(R):5'- GGGCTAACAAATTTCAGCTCCTC -3'
Sequencing Primer
(F):5'- GAATTGAATATCCCGGTCAGTCC -3'
(R):5'- TTGTCTGACATGCACAAGGC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation