Incidental Mutation 'R5791:Arhgap29'
| ID |
446963 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap29
|
| Ensembl Gene |
ENSMUSG00000039831 |
| Gene Name |
Rho GTPase activating protein 29 |
| Synonyms |
C76601, Parg1, B130017I01Rik, 6720461J18Rik |
| MMRRC Submission |
043207-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5791 (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 A
at 121807894 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 616
(M616K)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037958]
[ENSMUST00000197155]
|
| AlphaFold |
Q8CGF1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037958
AA Change: M1024K
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000044624
Gene: ENSMUSG00000039831
AA Change: M1024K
| 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 benign
Transcript: ENSMUST00000197155
|
| SMART Domains |
Protein: ENSMUSP00000142945
Gene: ENSMUSG00000039831
| 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 |
probably damaging
Transcript: ENSMUST00000198914
AA Change: M616K
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.1%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam25 |
G |
C |
8: 41,207,257 (GRCm39) |
Q174H |
probably benign |
Het |
| Adipor2 |
A |
T |
6: 119,338,866 (GRCm39) |
M129K |
possibly damaging |
Het |
| Calcrl |
A |
T |
2: 84,181,609 (GRCm39) |
F180I |
probably damaging |
Het |
| Cdh4 |
T |
C |
2: 179,537,560 (GRCm39) |
V864A |
probably damaging |
Het |
| Cep78 |
A |
G |
19: 15,938,436 (GRCm39) |
F504S |
probably benign |
Het |
| Coasy |
A |
G |
11: 100,975,211 (GRCm39) |
|
probably null |
Het |
| Dnah3 |
T |
C |
7: 119,530,696 (GRCm39) |
N751S |
probably benign |
Het |
| Ecpas |
C |
T |
4: 58,814,027 (GRCm39) |
E1360K |
possibly damaging |
Het |
| Ecpas |
T |
A |
4: 58,822,111 (GRCm39) |
D1152V |
probably damaging |
Het |
| Eea1 |
T |
A |
10: 95,855,857 (GRCm39) |
N631K |
probably benign |
Het |
| Fam149b |
A |
G |
14: 20,401,394 (GRCm39) |
K27R |
probably damaging |
Het |
| Fbxw26 |
A |
G |
9: 109,574,221 (GRCm39) |
W42R |
probably damaging |
Het |
| Gas6 |
A |
G |
8: 13,520,217 (GRCm39) |
|
probably null |
Het |
| Gfral |
C |
T |
9: 76,104,328 (GRCm39) |
R228Q |
probably benign |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gmppa |
T |
C |
1: 75,418,899 (GRCm39) |
V324A |
possibly damaging |
Het |
| Gstm2 |
C |
T |
3: 107,891,444 (GRCm39) |
|
probably null |
Het |
| Kcng3 |
A |
G |
17: 83,895,639 (GRCm39) |
S276P |
probably benign |
Het |
| Lrrd1 |
T |
C |
5: 3,901,254 (GRCm39) |
S520P |
probably benign |
Het |
| Lrrn2 |
A |
G |
1: 132,865,505 (GRCm39) |
N190S |
probably benign |
Het |
| Lrwd1 |
G |
C |
5: 136,159,887 (GRCm39) |
A392G |
probably benign |
Het |
| Mab21l2 |
A |
G |
3: 86,454,044 (GRCm39) |
Y319H |
probably damaging |
Het |
| Ndufv3 |
A |
G |
17: 31,746,382 (GRCm39) |
N91D |
probably benign |
Het |
| Nfatc2 |
T |
A |
2: 168,378,313 (GRCm39) |
M451L |
probably benign |
Het |
| Or10g9b |
A |
T |
9: 39,918,030 (GRCm39) |
S72T |
probably damaging |
Het |
| Pcdhgb2 |
G |
T |
18: 37,825,393 (GRCm39) |
V795F |
possibly damaging |
Het |
| Pdcd11 |
T |
A |
19: 47,099,430 (GRCm39) |
M843K |
possibly damaging |
Het |
| Pla2g4c |
T |
A |
7: 13,073,617 (GRCm39) |
N221K |
probably benign |
Het |
| Ppox |
T |
C |
1: 171,104,885 (GRCm39) |
Y422C |
probably damaging |
Het |
| Retreg3 |
A |
G |
11: 100,991,769 (GRCm39) |
S55P |
probably damaging |
Het |
| Rnf103 |
C |
A |
6: 71,485,909 (GRCm39) |
T180K |
probably damaging |
Het |
| Tbl3 |
A |
T |
17: 24,923,408 (GRCm39) |
L307H |
probably damaging |
Het |
| Tex26 |
A |
T |
5: 149,363,240 (GRCm39) |
|
probably null |
Het |
| Tln2 |
A |
T |
9: 67,293,887 (GRCm39) |
I247K |
probably damaging |
Het |
| Txlnb |
T |
C |
10: 17,674,876 (GRCm39) |
S10P |
probably benign |
Het |
| Vwde |
C |
A |
6: 13,195,985 (GRCm39) |
E347* |
probably null |
Het |
| Wasf1 |
G |
A |
10: 40,802,570 (GRCm39) |
R75Q |
probably damaging |
Het |
| Zfp14 |
A |
G |
7: 29,737,687 (GRCm39) |
S433P |
probably damaging |
Het |
| Zfp647 |
G |
T |
15: 76,802,206 (GRCm39) |
A2E |
unknown |
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 |
|
R5743:Arhgap29
|
UTSW |
3 |
121,775,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GACAGTACTGTGTTGGGGAC -3'
(R):5'- GCCATTAACTTTGGAGCGAGTAG -3'
Sequencing Primer
(F):5'- TGGGGACATTTATAGTATTCCTCC -3'
(R):5'- AACTTTGGAGCGAGTAGTATTTGAG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation