Incidental Mutation 'R7500:Arhgap20'
| ID |
581434 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap20
|
| Ensembl Gene |
ENSMUSG00000053199 |
| Gene Name |
Rho GTPase activating protein 20 |
| Synonyms |
6530403F17Rik, A530023E23Rik |
| MMRRC Submission |
045573-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.329)
|
| Stock # |
R7500 (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 51751802 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 418
(I418V)
|
| 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: I418V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000065633
Gene: ENSMUSG00000053199
AA Change: I418V
| 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 benign
Transcript: ENSMUST00000130405
AA Change: I382V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000120124
Gene: ENSMUSG00000053199
AA Change: I382V
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
98% (49/50) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaa1a |
A |
G |
9: 119,173,564 (GRCm39) |
M146V |
probably benign |
Het |
| Adcy1 |
C |
T |
11: 7,094,762 (GRCm39) |
R563C |
probably damaging |
Het |
| Ambn |
A |
T |
5: 88,609,493 (GRCm39) |
Y67F |
possibly damaging |
Het |
| Ankrd42 |
T |
A |
7: 92,241,080 (GRCm39) |
E426D |
probably benign |
Het |
| Ankzf1 |
A |
G |
1: 75,174,623 (GRCm39) |
T538A |
probably benign |
Het |
| Arhgef28 |
A |
G |
13: 98,115,003 (GRCm39) |
Y616H |
probably benign |
Het |
| B4galt4 |
T |
C |
16: 38,588,376 (GRCm39) |
F340S |
probably damaging |
Het |
| Bmp1 |
C |
T |
14: 70,727,562 (GRCm39) |
E674K |
probably benign |
Het |
| Ccr9 |
T |
A |
9: 123,608,534 (GRCm39) |
V72D |
probably damaging |
Het |
| Chd2 |
T |
A |
7: 73,101,556 (GRCm39) |
K1390I |
probably damaging |
Het |
| Col5a3 |
C |
T |
9: 20,711,585 (GRCm39) |
R513Q |
unknown |
Het |
| Cracd |
A |
G |
5: 76,805,905 (GRCm39) |
R126G |
unknown |
Het |
| Cttnbp2 |
G |
T |
6: 18,378,419 (GRCm39) |
N1472K |
probably benign |
Het |
| Edn3 |
A |
G |
2: 174,621,328 (GRCm39) |
|
probably null |
Het |
| Eps15l1 |
A |
G |
8: 73,136,634 (GRCm39) |
F331L |
probably damaging |
Het |
| Gm45337 |
CACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCTACAGCCTCC |
CACAGCCTCC |
7: 141,698,021 (GRCm39) |
|
probably benign |
Het |
| Lrrc56 |
A |
G |
7: 140,789,443 (GRCm39) |
S487G |
probably benign |
Het |
| Moxd2 |
A |
G |
6: 40,868,746 (GRCm39) |
T93A |
probably benign |
Het |
| Ngp |
G |
T |
9: 110,248,833 (GRCm39) |
|
probably null |
Het |
| Npr2 |
T |
C |
4: 43,650,415 (GRCm39) |
V970A |
probably damaging |
Het |
| Or4a79 |
T |
C |
2: 89,552,281 (GRCm39) |
Y58C |
possibly damaging |
Het |
| Or5an10 |
T |
C |
19: 12,276,041 (GRCm39) |
S152G |
probably damaging |
Het |
| Or8b9 |
T |
C |
9: 37,766,314 (GRCm39) |
S67P |
probably damaging |
Het |
| Or8g28 |
T |
G |
9: 39,169,762 (GRCm39) |
I69L |
probably benign |
Het |
| Pacc1 |
A |
G |
1: 191,078,910 (GRCm39) |
|
probably null |
Het |
| Pdf |
A |
T |
8: 107,773,781 (GRCm39) |
F221I |
probably damaging |
Het |
| Plekhn1 |
A |
C |
4: 156,317,771 (GRCm39) |
S205R |
probably benign |
Het |
| Ppp6r1 |
G |
A |
7: 4,639,129 (GRCm39) |
A606V |
probably benign |
Het |
| Prpf38b |
C |
T |
3: 108,812,446 (GRCm39) |
V256I |
probably benign |
Het |
| Rbbp5 |
T |
A |
1: 132,421,879 (GRCm39) |
H291Q |
probably benign |
Het |
| Rnf169 |
T |
C |
7: 99,629,445 (GRCm39) |
E66G |
probably damaging |
Het |
| Rp1 |
T |
A |
1: 4,381,501 (GRCm39) |
N328Y |
unknown |
Het |
| Skint5 |
A |
T |
4: 113,417,035 (GRCm39) |
V1138E |
unknown |
Het |
| Slc27a4 |
T |
C |
2: 29,702,717 (GRCm39) |
V539A |
probably damaging |
Het |
| Smo |
G |
T |
6: 29,755,534 (GRCm39) |
R402L |
probably benign |
Het |
| Srgap2 |
A |
T |
1: 131,364,569 (GRCm39) |
L4Q |
probably damaging |
Het |
| Tbxas1 |
A |
T |
6: 38,959,146 (GRCm39) |
R110* |
probably null |
Het |
| Thoc7 |
A |
C |
14: 13,951,204 (GRCm38) |
|
probably null |
Het |
| Tmub1 |
G |
A |
5: 24,652,507 (GRCm39) |
|
probably benign |
Het |
| Tnrc6a |
A |
G |
7: 122,772,673 (GRCm39) |
|
probably null |
Het |
| Traj19 |
T |
A |
14: 54,437,860 (GRCm39) |
H6Q |
unknown |
Het |
| Trim30c |
T |
C |
7: 104,036,758 (GRCm39) |
E200G |
probably benign |
Het |
| Ubqlnl |
A |
T |
7: 103,798,048 (GRCm39) |
I483N |
probably damaging |
Het |
| Usp25 |
G |
T |
16: 76,874,089 (GRCm39) |
R555L |
probably damaging |
Het |
| Vgll4 |
A |
G |
6: 114,839,293 (GRCm39) |
S233P |
probably damaging |
Het |
| Vps13b |
G |
A |
15: 35,910,670 (GRCm39) |
C3478Y |
possibly damaging |
Het |
| Vwa8 |
T |
A |
14: 79,162,686 (GRCm39) |
|
probably null |
Het |
| Zfp977 |
A |
G |
7: 42,229,629 (GRCm39) |
Y299H |
probably damaging |
Het |
| Zmynd11 |
T |
A |
13: 9,785,434 (GRCm39) |
H17L |
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 |
|
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 |
|
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'- AGCTCCAGTCCTTCGGTGTATAC -3'
(R):5'- CAAGGCTGCTCTGTGAAATG -3'
Sequencing Primer
(F):5'- GTATACACCCCGGCCTTCTGAG -3'
(R):5'- CTGCTCTGTGAAATGTTTGTTTG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation