Incidental Mutation 'R6801:Arhgap20'
| ID |
533345 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap20
|
| Ensembl Gene |
ENSMUSG00000053199 |
| Gene Name |
Rho GTPase activating protein 20 |
| Synonyms |
6530403F17Rik, A530023E23Rik |
| MMRRC Submission |
044914-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.332)
|
| Stock # |
R6801 (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 G
at 51759892 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 545
(D545G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120124
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065496]
[ENSMUST00000130405]
|
| AlphaFold |
Q6IFT4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065496
AA Change: D581G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000065633
Gene: ENSMUSG00000053199
AA Change: D581G
| 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: D545G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120124
Gene: ENSMUSG00000053199
AA Change: D545G
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.8%
|
| Validation Efficiency |
100% (49/49) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam3 |
T |
A |
8: 25,174,680 (GRCm39) |
Y695F |
possibly damaging |
Het |
| Arhgef11 |
A |
G |
3: 87,643,159 (GRCm39) |
E1457G |
possibly damaging |
Het |
| Atp2b4 |
T |
A |
1: 133,655,524 (GRCm39) |
I747F |
probably damaging |
Het |
| Bche |
T |
A |
3: 73,609,133 (GRCm39) |
I98L |
probably benign |
Het |
| C2cd6 |
TC |
T |
1: 59,133,742 (GRCm39) |
|
probably null |
Het |
| Ccdc90b |
A |
G |
7: 92,216,943 (GRCm39) |
T72A |
probably benign |
Het |
| Chrd |
A |
G |
16: 20,554,497 (GRCm39) |
E352G |
possibly damaging |
Het |
| Csmd2 |
A |
G |
4: 128,277,743 (GRCm39) |
E953G |
probably benign |
Het |
| Dchs2 |
T |
A |
3: 83,035,841 (GRCm39) |
M196K |
probably benign |
Het |
| Ddx10 |
G |
A |
9: 53,159,207 (GRCm39) |
Q33* |
probably null |
Het |
| Dennd4b |
T |
A |
3: 90,176,086 (GRCm39) |
V201E |
probably damaging |
Het |
| Fbn2 |
T |
A |
18: 58,246,420 (GRCm39) |
H494L |
probably benign |
Het |
| Fbxw13 |
G |
A |
9: 109,023,795 (GRCm39) |
A83V |
probably null |
Het |
| Fxr1 |
A |
G |
3: 34,108,452 (GRCm39) |
D321G |
possibly damaging |
Het |
| Galm |
A |
G |
17: 80,489,053 (GRCm39) |
H233R |
probably benign |
Het |
| Gm7298 |
A |
G |
6: 121,752,768 (GRCm39) |
T837A |
probably benign |
Het |
| Gmppa |
C |
G |
1: 75,418,391 (GRCm39) |
S258C |
possibly damaging |
Het |
| Hk1 |
T |
G |
10: 62,116,910 (GRCm39) |
E645A |
probably damaging |
Het |
| Igkv1-132 |
A |
G |
6: 67,737,324 (GRCm39) |
T97A |
probably damaging |
Het |
| Kcnc1 |
T |
C |
7: 46,084,716 (GRCm39) |
F547L |
probably damaging |
Het |
| Lama5 |
G |
A |
2: 179,833,455 (GRCm39) |
P1519L |
probably damaging |
Het |
| Lingo2 |
T |
A |
4: 35,709,566 (GRCm39) |
E138V |
probably damaging |
Het |
| Myb |
T |
C |
10: 21,020,865 (GRCm39) |
|
probably null |
Het |
| Mybl1 |
A |
G |
1: 9,753,353 (GRCm39) |
V243A |
probably benign |
Het |
| Mylk4 |
C |
T |
13: 32,912,393 (GRCm39) |
S189N |
probably benign |
Het |
| Or13c7 |
T |
A |
4: 43,855,206 (GRCm39) |
L299* |
probably null |
Het |
| Or2y16 |
A |
G |
11: 49,335,169 (GRCm39) |
M164V |
probably benign |
Het |
| Or4k77 |
A |
T |
2: 111,199,394 (GRCm39) |
Q139L |
probably benign |
Het |
| Or4x12-ps1 |
A |
T |
2: 89,915,953 (GRCm39) |
I284N |
probably damaging |
Het |
| Or5w1b |
A |
G |
2: 87,475,667 (GRCm39) |
Y267H |
probably benign |
Het |
| Or8g19 |
A |
T |
9: 39,055,506 (GRCm39) |
I37F |
probably benign |
Het |
| Oxld1 |
A |
T |
11: 120,347,650 (GRCm39) |
D182E |
probably damaging |
Het |
| Phf13 |
A |
T |
4: 152,076,017 (GRCm39) |
L295Q |
probably damaging |
Het |
| Prrc2c |
TTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGCTGCTGCTGC |
1: 162,536,630 (GRCm39) |
|
probably benign |
Het |
| Prss33 |
A |
G |
17: 24,053,813 (GRCm39) |
L88P |
possibly damaging |
Het |
| Ralgds |
A |
G |
2: 28,438,448 (GRCm39) |
Y596C |
probably damaging |
Het |
| Rftn2 |
A |
G |
1: 55,233,418 (GRCm39) |
I379T |
possibly damaging |
Het |
| Rnf214 |
C |
T |
9: 45,807,403 (GRCm39) |
E267K |
probably damaging |
Het |
| Rpp14 |
T |
C |
14: 8,083,717 (GRCm38) |
|
probably benign |
Het |
| Rpusd2 |
A |
G |
2: 118,865,876 (GRCm39) |
Y191C |
probably damaging |
Het |
| Serpinb9c |
T |
A |
13: 33,341,807 (GRCm39) |
M1L |
probably benign |
Het |
| Shroom3 |
A |
G |
5: 93,088,795 (GRCm39) |
D434G |
probably damaging |
Het |
| Smc5 |
G |
A |
19: 23,192,010 (GRCm39) |
S888L |
probably benign |
Het |
| Suv39h2 |
C |
T |
2: 3,465,458 (GRCm39) |
R299K |
probably benign |
Het |
| Trappc4 |
A |
T |
9: 44,315,685 (GRCm39) |
I176N |
probably damaging |
Het |
| Trim12c |
A |
T |
7: 103,997,337 (GRCm39) |
V73E |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly 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 |
|
|
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 |
|
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'- AGATGTTGCCAACTCCCTCC -3'
(R):5'- CGGAATGTGCTCCTCTTTAGAC -3'
Sequencing Primer
(F):5'- TCCACACACAAAATGTTTAAGCTC -3'
(R):5'- CTGATCTAAGTCAAAGTTGCTCAGGG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation