Incidental Mutation 'R5743:Arhgap29'
| ID |
445654 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap29
|
| Ensembl Gene |
ENSMUSG00000039831 |
| Gene Name |
Rho GTPase activating protein 29 |
| Synonyms |
C76601, Parg1, B130017I01Rik, 6720461J18Rik |
| MMRRC Submission |
043353-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5743 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
121746752-121810326 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 121775560 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 37
(L37R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143548
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037958]
[ENSMUST00000196479]
[ENSMUST00000196904]
[ENSMUST00000197155]
|
| AlphaFold |
Q8CGF1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037958
AA Change: L101R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000044624
Gene: ENSMUSG00000039831
AA Change: L101R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
12 |
N/A |
INTRINSIC |
|
PDB:3QWE|A
|
193 |
469 |
5e-41 |
PDB |
|
Blast:RhoGAP
|
412 |
595 |
9e-84 |
BLAST |
|
C1
|
613 |
659 |
2.48e-6 |
SMART |
|
RhoGAP
|
684 |
885 |
1.92e-68 |
SMART |
|
low complexity region
|
947 |
961 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000196479
AA Change: L37R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142817
Gene: ENSMUSG00000039831
AA Change: L37R
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3QWE|A
|
129 |
271 |
1e-28 |
PDB |
|
Blast:FCH
|
133 |
220 |
1e-10 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000196904
AA Change: L37R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000197155
AA Change: L101R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142945
Gene: ENSMUSG00000039831
AA Change: L101R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
12 |
N/A |
INTRINSIC |
|
PDB:3QWE|A
|
193 |
469 |
8e-42 |
PDB |
|
Blast:RhoGAP
|
412 |
595 |
2e-87 |
BLAST |
|
C1
|
613 |
659 |
2.48e-6 |
SMART |
|
RhoGAP
|
684 |
780 |
1.14e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199081
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Rap1 is a small GTPase that, through effectors, regulates Rho GTPase signaling. These effectors- Rasip1, Radil, and the protein encoded by this gene- translocate to the cell membrane, where they form a multiprotein complex. This complex is necessary for Rap1-induced inhibition of Rho signaling. Defects in this gene may be a cause of nonsyndromic cleft lip with or without cleft palate. [provided by RefSeq, Jun 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss2 |
A |
G |
2: 155,416,536 (GRCm39) |
|
probably benign |
Het |
| Ankef1 |
A |
G |
2: 136,391,629 (GRCm39) |
|
probably null |
Het |
| Arhgap20 |
T |
A |
9: 51,728,027 (GRCm39) |
M80K |
probably benign |
Het |
| Baiap3 |
G |
A |
17: 25,463,759 (GRCm39) |
P906S |
probably benign |
Het |
| Caskin2 |
T |
A |
11: 115,693,115 (GRCm39) |
N603I |
possibly damaging |
Het |
| Catspere2 |
G |
T |
1: 177,950,328 (GRCm39) |
|
silent |
Het |
| Ccdc159 |
A |
T |
9: 21,840,686 (GRCm39) |
E84D |
probably benign |
Het |
| Ccl1 |
T |
G |
11: 82,067,712 (GRCm39) |
S73R |
possibly damaging |
Het |
| Cdh20 |
G |
T |
1: 110,036,575 (GRCm39) |
C585F |
probably damaging |
Het |
| Cga |
T |
C |
4: 34,904,108 (GRCm39) |
|
probably null |
Het |
| Coq5 |
A |
C |
5: 115,417,941 (GRCm39) |
E57A |
probably benign |
Het |
| Cstf1 |
T |
A |
2: 172,219,753 (GRCm39) |
L288Q |
probably damaging |
Het |
| Ctsll3 |
G |
T |
13: 60,948,815 (GRCm39) |
Q47K |
probably benign |
Het |
| Dchs1 |
T |
A |
7: 105,420,803 (GRCm39) |
Q539L |
probably benign |
Het |
| Fbxo46 |
C |
A |
7: 18,870,420 (GRCm39) |
D346E |
probably damaging |
Het |
| Frem3 |
A |
T |
8: 81,342,407 (GRCm39) |
T1567S |
probably damaging |
Het |
| Glce |
T |
A |
9: 61,977,822 (GRCm39) |
T21S |
probably damaging |
Het |
| Gm19402 |
C |
T |
10: 77,526,516 (GRCm39) |
D26N |
probably damaging |
Het |
| Gm20830 |
A |
G |
Y: 6,916,664 (GRCm39) |
Y152H |
probably damaging |
Het |
| Herc3 |
T |
C |
6: 58,895,784 (GRCm39) |
Y1011H |
probably benign |
Het |
| Igkv6-29 |
C |
A |
6: 70,115,584 (GRCm39) |
G70V |
possibly damaging |
Het |
| Il31ra |
G |
T |
13: 112,664,021 (GRCm39) |
T552K |
possibly damaging |
Het |
| Itga2 |
A |
G |
13: 115,021,042 (GRCm39) |
V86A |
probably damaging |
Het |
| Kcnk4 |
A |
T |
19: 6,905,723 (GRCm39) |
N81K |
possibly damaging |
Het |
| Lrp2 |
C |
A |
2: 69,297,221 (GRCm39) |
D3247Y |
probably damaging |
Het |
| Maml3 |
G |
T |
3: 52,011,553 (GRCm39) |
F4L |
unknown |
Het |
| Mcpt1 |
A |
T |
14: 56,256,072 (GRCm39) |
H37L |
probably benign |
Het |
| Mpdz |
T |
C |
4: 81,339,425 (GRCm39) |
M1V |
probably null |
Het |
| Myom2 |
A |
T |
8: 15,130,914 (GRCm39) |
K283N |
possibly damaging |
Het |
| Nrxn1 |
C |
A |
17: 90,950,652 (GRCm39) |
R509L |
probably damaging |
Het |
| Ntng1 |
T |
A |
3: 110,042,736 (GRCm39) |
Y30F |
probably damaging |
Het |
| Or52e7 |
A |
G |
7: 104,685,363 (GRCm39) |
|
probably null |
Het |
| Or8c13 |
C |
A |
9: 38,092,014 (GRCm39) |
C35F |
probably benign |
Het |
| Or8h8 |
C |
A |
2: 86,753,549 (GRCm39) |
G109V |
probably benign |
Het |
| Orc6 |
A |
T |
8: 86,029,585 (GRCm39) |
Q43L |
probably benign |
Het |
| Otogl |
G |
A |
10: 107,692,862 (GRCm39) |
S874L |
possibly damaging |
Het |
| Pcdh9 |
T |
C |
14: 94,124,160 (GRCm39) |
D670G |
probably damaging |
Het |
| Pcdhga9 |
A |
T |
18: 37,871,859 (GRCm39) |
I563F |
probably damaging |
Het |
| Plxna1 |
A |
T |
6: 89,333,511 (GRCm39) |
S373T |
probably damaging |
Het |
| Prop1 |
T |
C |
11: 50,841,836 (GRCm39) |
D190G |
probably damaging |
Het |
| Qrich1 |
T |
A |
9: 108,411,314 (GRCm39) |
Y280N |
probably damaging |
Het |
| Rasl10a |
T |
A |
11: 5,009,519 (GRCm39) |
D102E |
probably benign |
Het |
| Rgs1 |
T |
C |
1: 144,121,110 (GRCm39) |
Y187C |
probably damaging |
Het |
| Sema5b |
T |
A |
16: 35,478,846 (GRCm39) |
W557R |
probably damaging |
Het |
| Sh2b3 |
A |
T |
5: 121,966,520 (GRCm39) |
L198H |
probably damaging |
Het |
| Slc27a3 |
G |
T |
3: 90,294,379 (GRCm39) |
T429K |
probably benign |
Het |
| Slc35f1 |
T |
G |
10: 52,965,546 (GRCm39) |
D320E |
probably benign |
Het |
| Smug1 |
C |
A |
15: 103,066,043 (GRCm39) |
|
probably null |
Het |
| Spata31f3 |
G |
A |
4: 42,873,087 (GRCm39) |
T68I |
probably damaging |
Het |
| Ssrp1 |
T |
A |
2: 84,871,512 (GRCm39) |
Y311* |
probably null |
Het |
| Svep1 |
T |
C |
4: 58,096,223 (GRCm39) |
T1466A |
possibly damaging |
Het |
| Tmem130 |
A |
G |
5: 144,687,749 (GRCm39) |
S196P |
probably damaging |
Het |
| Trim30d |
A |
T |
7: 104,121,535 (GRCm39) |
C176* |
probably null |
Het |
| Ush2a |
A |
G |
1: 188,169,159 (GRCm39) |
H1100R |
probably benign |
Het |
| Vezt |
A |
T |
10: 93,832,957 (GRCm39) |
F151L |
probably benign |
Het |
| Vps35l |
A |
G |
7: 118,396,234 (GRCm39) |
T538A |
possibly damaging |
Het |
| Zc3h3 |
G |
T |
15: 75,651,380 (GRCm39) |
C638* |
probably null |
Het |
| Zfp128 |
C |
T |
7: 12,618,654 (GRCm39) |
R51C |
probably damaging |
Het |
| Zfp141 |
T |
G |
7: 42,125,855 (GRCm39) |
I206L |
possibly damaging |
Het |
| Zfp369 |
G |
T |
13: 65,443,494 (GRCm39) |
K324N |
probably benign |
Het |
|
| Other mutations in Arhgap29 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00492:Arhgap29
|
APN |
3 |
121,796,961 (GRCm39) |
nonsense |
probably null |
|
|
IGL01121:Arhgap29
|
APN |
3 |
121,803,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01622:Arhgap29
|
APN |
3 |
121,767,773 (GRCm39) |
splice site |
probably benign |
|
|
IGL01623:Arhgap29
|
APN |
3 |
121,767,773 (GRCm39) |
splice site |
probably benign |
|
|
IGL01995:Arhgap29
|
APN |
3 |
121,807,977 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02120:Arhgap29
|
APN |
3 |
121,797,906 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02554:Arhgap29
|
APN |
3 |
121,786,173 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02931:Arhgap29
|
APN |
3 |
121,786,509 (GRCm39) |
missense |
probably benign |
|
|
IGL02937:Arhgap29
|
APN |
3 |
121,767,698 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4362001:Arhgap29
|
UTSW |
3 |
121,796,861 (GRCm39) |
missense |
probably benign |
0.42 |
|
R0022:Arhgap29
|
UTSW |
3 |
121,782,586 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R0574:Arhgap29
|
UTSW |
3 |
121,801,274 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0601:Arhgap29
|
UTSW |
3 |
121,784,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0639:Arhgap29
|
UTSW |
3 |
121,801,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0881:Arhgap29
|
UTSW |
3 |
121,808,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1232:Arhgap29
|
UTSW |
3 |
121,796,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1295:Arhgap29
|
UTSW |
3 |
121,786,044 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1296:Arhgap29
|
UTSW |
3 |
121,786,044 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1403:Arhgap29
|
UTSW |
3 |
121,767,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1403:Arhgap29
|
UTSW |
3 |
121,767,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1470:Arhgap29
|
UTSW |
3 |
121,785,968 (GRCm39) |
unclassified |
probably benign |
|
|
R1710:Arhgap29
|
UTSW |
3 |
121,801,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1878:Arhgap29
|
UTSW |
3 |
121,805,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2051:Arhgap29
|
UTSW |
3 |
121,775,509 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2112:Arhgap29
|
UTSW |
3 |
121,805,210 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2188:Arhgap29
|
UTSW |
3 |
121,784,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2240:Arhgap29
|
UTSW |
3 |
121,805,102 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2420:Arhgap29
|
UTSW |
3 |
121,767,629 (GRCm39) |
missense |
probably benign |
|
|
R3618:Arhgap29
|
UTSW |
3 |
121,782,176 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4673:Arhgap29
|
UTSW |
3 |
121,808,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4717:Arhgap29
|
UTSW |
3 |
121,803,607 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5028:Arhgap29
|
UTSW |
3 |
121,803,709 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5043:Arhgap29
|
UTSW |
3 |
121,767,653 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5045:Arhgap29
|
UTSW |
3 |
121,796,244 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5463:Arhgap29
|
UTSW |
3 |
121,782,200 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5495:Arhgap29
|
UTSW |
3 |
121,808,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5791:Arhgap29
|
UTSW |
3 |
121,807,894 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5896:Arhgap29
|
UTSW |
3 |
121,805,736 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6083:Arhgap29
|
UTSW |
3 |
121,786,397 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6355:Arhgap29
|
UTSW |
3 |
121,804,907 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6451:Arhgap29
|
UTSW |
3 |
121,787,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6528:Arhgap29
|
UTSW |
3 |
121,808,351 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7239:Arhgap29
|
UTSW |
3 |
121,782,599 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7669:Arhgap29
|
UTSW |
3 |
121,786,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7807:Arhgap29
|
UTSW |
3 |
121,807,981 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8045:Arhgap29
|
UTSW |
3 |
121,801,211 (GRCm39) |
synonymous |
silent |
|
|
R8048:Arhgap29
|
UTSW |
3 |
121,786,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8165:Arhgap29
|
UTSW |
3 |
121,782,222 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9001:Arhgap29
|
UTSW |
3 |
121,775,523 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9032:Arhgap29
|
UTSW |
3 |
121,808,249 (GRCm39) |
missense |
probably benign |
|
|
R9060:Arhgap29
|
UTSW |
3 |
121,783,973 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9085:Arhgap29
|
UTSW |
3 |
121,808,249 (GRCm39) |
missense |
probably benign |
|
|
R9717:Arhgap29
|
UTSW |
3 |
121,797,920 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAACCAGTGCTTTCTACTCTAAG -3'
(R):5'- CCCAAGCTGTCAAACTTCGG -3'
Sequencing Primer
(F):5'- CTACTCTAAGTAGCTTTGTGATGTC -3'
(R):5'- AGGTAACCTTTTCTTCTGGTAAGTC -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation