Incidental Mutation 'R1942:Arhgap20'
| ID |
216299 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap20
|
| Ensembl Gene |
ENSMUSG00000053199 |
| Gene Name |
Rho GTPase activating protein 20 |
| Synonyms |
6530403F17Rik, A530023E23Rik |
| MMRRC Submission |
039960-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.329)
|
| Stock # |
R1942 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
51676651-51765158 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 51742998 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 279
(Q279K)
|
| 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: Q279K
PolyPhen 2
Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000065633
Gene: ENSMUSG00000053199
AA Change: Q279K
| 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: Q243K
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000120124
Gene: ENSMUSG00000053199
AA Change: Q243K
| 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: ENSMUST00000149754
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152203
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.7%
|
| Validation Efficiency |
100% (75/75) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
A |
T |
15: 81,949,625 (GRCm39) |
Y1174F |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,992,447 (GRCm39) |
E4577G |
probably damaging |
Het |
| Anapc4 |
T |
C |
5: 53,004,056 (GRCm39) |
V291A |
probably benign |
Het |
| Apba2 |
A |
G |
7: 64,345,218 (GRCm39) |
E136G |
possibly damaging |
Het |
| B3galnt1 |
A |
T |
3: 69,483,258 (GRCm39) |
M1K |
probably null |
Het |
| C4bp |
C |
A |
1: 130,583,804 (GRCm39) |
|
probably benign |
Het |
| Catsperg1 |
G |
A |
7: 28,906,232 (GRCm39) |
T157I |
possibly damaging |
Het |
| Cfap90 |
A |
C |
13: 68,761,090 (GRCm39) |
I171L |
probably benign |
Het |
| Chrm1 |
T |
A |
19: 8,655,637 (GRCm39) |
M114K |
probably damaging |
Het |
| Clasp1 |
A |
G |
1: 118,429,078 (GRCm39) |
E329G |
possibly damaging |
Het |
| Clrn2 |
A |
C |
5: 45,611,337 (GRCm39) |
Y62S |
probably benign |
Het |
| Col12a1 |
T |
G |
9: 79,542,748 (GRCm39) |
D2339A |
probably damaging |
Het |
| Copa |
T |
A |
1: 171,939,455 (GRCm39) |
L564Q |
probably damaging |
Het |
| Cpeb2 |
C |
A |
5: 43,392,596 (GRCm39) |
|
probably benign |
Het |
| Dhx57 |
A |
T |
17: 80,572,573 (GRCm39) |
M647K |
probably damaging |
Het |
| Diaph3 |
C |
T |
14: 87,378,556 (GRCm39) |
|
probably benign |
Het |
| Eomes |
A |
G |
9: 118,313,716 (GRCm39) |
D587G |
probably benign |
Het |
| Gm5142 |
T |
A |
14: 59,416,156 (GRCm39) |
M1L |
probably benign |
Het |
| Gnl2 |
A |
G |
4: 124,923,957 (GRCm39) |
I12V |
probably benign |
Het |
| Gprin1 |
C |
T |
13: 54,887,752 (GRCm39) |
C174Y |
probably benign |
Het |
| Grin2b |
A |
T |
6: 135,709,730 (GRCm39) |
V1272E |
possibly damaging |
Het |
| Hdac9 |
A |
G |
12: 34,479,544 (GRCm39) |
L227S |
probably damaging |
Het |
| Helz |
T |
A |
11: 107,493,318 (GRCm39) |
L247Q |
probably benign |
Het |
| Hs6st1 |
T |
C |
1: 36,107,803 (GRCm39) |
V22A |
probably benign |
Het |
| Hspg2 |
C |
A |
4: 137,269,863 (GRCm39) |
A2304E |
possibly damaging |
Het |
| Htr3a |
T |
C |
9: 48,819,911 (GRCm39) |
Y73C |
probably damaging |
Het |
| Il1rap |
A |
C |
16: 26,541,205 (GRCm39) |
E482A |
probably damaging |
Het |
| Itsn2 |
T |
A |
12: 4,689,670 (GRCm39) |
L581* |
probably null |
Het |
| Msmb |
A |
G |
14: 31,870,034 (GRCm39) |
E2G |
probably benign |
Het |
| Muc19 |
T |
C |
15: 91,776,666 (GRCm39) |
|
noncoding transcript |
Het |
| Muc4 |
A |
C |
16: 32,569,460 (GRCm39) |
L173F |
probably damaging |
Het |
| Muc5b |
A |
T |
7: 141,411,421 (GRCm39) |
S1456C |
unknown |
Het |
| Mylip |
A |
T |
13: 45,560,172 (GRCm39) |
I203F |
probably damaging |
Het |
| Nckap5 |
A |
T |
1: 125,952,039 (GRCm39) |
D1504E |
probably damaging |
Het |
| Neil1 |
C |
G |
9: 57,053,891 (GRCm39) |
R143P |
probably benign |
Het |
| Nlrp2 |
T |
A |
7: 5,325,447 (GRCm39) |
T742S |
probably damaging |
Het |
| Nme8 |
A |
G |
13: 19,859,978 (GRCm39) |
V214A |
probably damaging |
Het |
| Nsun7 |
C |
T |
5: 66,441,588 (GRCm39) |
T419I |
probably benign |
Het |
| Nup210l |
G |
A |
3: 90,058,544 (GRCm39) |
E648K |
probably benign |
Het |
| Or10g6 |
T |
A |
9: 39,934,031 (GRCm39) |
L114H |
probably damaging |
Het |
| Or10g6 |
T |
C |
9: 39,934,048 (GRCm39) |
Y120H |
probably damaging |
Het |
| Or2y1c |
T |
C |
11: 49,360,981 (GRCm39) |
M1T |
probably null |
Het |
| Or8s2 |
A |
G |
15: 98,276,445 (GRCm39) |
L182P |
probably damaging |
Het |
| Parp11 |
A |
C |
6: 127,447,663 (GRCm39) |
|
probably null |
Het |
| Pomgnt1 |
G |
T |
4: 116,012,472 (GRCm39) |
|
probably null |
Het |
| Ppp1r14c |
T |
C |
10: 3,413,417 (GRCm39) |
I150T |
probably damaging |
Het |
| Psd4 |
A |
G |
2: 24,295,805 (GRCm39) |
E908G |
probably damaging |
Het |
| Psmd6 |
A |
T |
14: 14,116,442 (GRCm38) |
V91E |
probably damaging |
Het |
| Ptk2b |
A |
T |
14: 66,406,830 (GRCm39) |
V634D |
probably damaging |
Het |
| Rapgef6 |
A |
G |
11: 54,548,089 (GRCm39) |
I753V |
possibly damaging |
Het |
| Rbm45 |
G |
A |
2: 76,205,823 (GRCm39) |
|
probably null |
Het |
| Ric1 |
A |
G |
19: 29,578,416 (GRCm39) |
|
probably benign |
Het |
| Sh3rf2 |
A |
G |
18: 42,282,689 (GRCm39) |
K416E |
probably damaging |
Het |
| Six5 |
C |
T |
7: 18,830,858 (GRCm39) |
A495V |
possibly damaging |
Het |
| Slc27a6 |
T |
A |
18: 58,689,870 (GRCm39) |
M112K |
probably damaging |
Het |
| Slc5a4a |
T |
C |
10: 75,983,422 (GRCm39) |
S20P |
unknown |
Het |
| Smg1 |
A |
G |
7: 117,757,326 (GRCm39) |
|
probably benign |
Het |
| Sntb2 |
G |
A |
8: 107,737,984 (GRCm39) |
A511T |
probably damaging |
Het |
| Stk31 |
A |
T |
6: 49,416,061 (GRCm39) |
N622I |
probably damaging |
Het |
| Sulf1 |
T |
C |
1: 12,918,397 (GRCm39) |
F38S |
probably damaging |
Het |
| Szt2 |
G |
T |
4: 118,249,817 (GRCm39) |
T521K |
probably benign |
Het |
| Terf1 |
G |
T |
1: 15,876,038 (GRCm39) |
R46I |
probably benign |
Het |
| Tmem245 |
A |
G |
4: 56,923,511 (GRCm39) |
|
probably benign |
Het |
| Tmigd1 |
T |
C |
11: 76,804,905 (GRCm39) |
|
probably null |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Umod |
A |
G |
7: 119,076,155 (GRCm39) |
Y204H |
probably damaging |
Het |
| Vcan |
T |
A |
13: 89,851,543 (GRCm39) |
Q1139L |
probably benign |
Het |
| Vmn1r85 |
T |
A |
7: 12,818,668 (GRCm39) |
T159S |
possibly damaging |
Het |
| Vmn2r103 |
T |
A |
17: 20,032,562 (GRCm39) |
S779T |
probably benign |
Het |
| Vmn2r27 |
C |
T |
6: 124,200,722 (GRCm39) |
A412T |
probably damaging |
Het |
| Zc3h12d |
A |
C |
10: 7,729,077 (GRCm39) |
D147A |
probably damaging |
Het |
| Zfp800 |
A |
T |
6: 28,243,272 (GRCm39) |
D564E |
probably benign |
Het |
| Zfp932 |
A |
G |
5: 110,154,853 (GRCm39) |
E17G |
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 |
|
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'- TTCTTTATCCCAGATGGCCCAG -3'
(R):5'- CAGGTTCATCTGGGTGGAAG -3'
Sequencing Primer
(F):5'- ATGGCCCAGGTGTAAGTCAC -3'
(R):5'- CCGGGAATGCGAGCTTTTG -3'
|
| Posted On |
2014-08-01 |
Incidental Mutation