Incidental Mutation 'R6355:Arhgap29'
| ID |
512327 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap29
|
| Ensembl Gene |
ENSMUSG00000039831 |
| Gene Name |
Rho GTPase activating protein 29 |
| Synonyms |
C76601, Parg1, B130017I01Rik, 6720461J18Rik |
| MMRRC Submission |
044507-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6355 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
121746752-121810326 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 121804907 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 832
(D832G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044624
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037958]
[ENSMUST00000197155]
|
| AlphaFold |
Q8CGF1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037958
AA Change: D832G
PolyPhen 2
Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000044624
Gene: ENSMUSG00000039831
AA Change: D832G
| 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 |
unknown
Transcript: ENSMUST00000198914
AA Change: D424G
|
| Meta Mutation Damage Score |
0.2251 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 93.8%
|
| Validation Efficiency |
98% (41/42) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agtr1a |
T |
G |
13: 30,565,482 (GRCm39) |
F182L |
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,986,126 (GRCm39) |
E2470G |
probably benign |
Het |
| Arhgap20 |
T |
C |
9: 51,755,020 (GRCm39) |
W418R |
probably damaging |
Het |
| Btbd2 |
A |
G |
10: 80,481,183 (GRCm39) |
F325L |
possibly damaging |
Het |
| Chrna10 |
A |
T |
7: 101,762,292 (GRCm39) |
|
probably null |
Het |
| Cyp26a1 |
T |
C |
19: 37,687,377 (GRCm39) |
I188T |
possibly damaging |
Het |
| Dnajc13 |
A |
G |
9: 104,080,469 (GRCm39) |
C871R |
probably damaging |
Het |
| Efcab3 |
T |
C |
11: 104,896,511 (GRCm39) |
S4287P |
probably benign |
Het |
| Gm5519 |
A |
T |
19: 33,802,471 (GRCm39) |
*171C |
probably null |
Het |
| Gnat1 |
C |
A |
9: 107,554,623 (GRCm39) |
V81F |
probably benign |
Het |
| Gorab |
G |
A |
1: 163,214,138 (GRCm39) |
A264V |
probably damaging |
Het |
| Ift172 |
A |
T |
5: 31,441,501 (GRCm39) |
V211E |
probably benign |
Het |
| Ivl |
CCTGCTGCTGCTGCT |
CCTGCTGCTGCT |
3: 92,479,217 (GRCm39) |
|
probably benign |
Het |
| Kif26b |
A |
C |
1: 178,743,743 (GRCm39) |
S1280R |
probably damaging |
Het |
| Lce3e |
C |
T |
3: 92,875,042 (GRCm39) |
|
probably benign |
Het |
| Magi1 |
A |
G |
6: 94,260,177 (GRCm39) |
Y43H |
probably benign |
Het |
| Mon2 |
T |
A |
10: 122,858,825 (GRCm39) |
M829L |
possibly damaging |
Het |
| Nmd3 |
G |
A |
3: 69,636,680 (GRCm39) |
V96I |
probably benign |
Het |
| Ogfod1 |
T |
C |
8: 94,789,610 (GRCm39) |
M437T |
probably benign |
Het |
| Or4f54 |
A |
G |
2: 111,123,230 (GRCm39) |
I206V |
probably benign |
Het |
| Or5m9b |
T |
A |
2: 85,905,216 (GRCm39) |
I44K |
probably benign |
Het |
| Or6b2 |
T |
C |
1: 92,407,702 (GRCm39) |
T214A |
probably benign |
Het |
| Pabpc2 |
A |
G |
18: 39,907,445 (GRCm39) |
S237G |
probably damaging |
Het |
| Parp4 |
T |
A |
14: 56,839,757 (GRCm39) |
D488E |
possibly damaging |
Het |
| Phldb2 |
C |
T |
16: 45,645,701 (GRCm39) |
M293I |
probably damaging |
Het |
| Poc1b |
G |
A |
10: 98,965,436 (GRCm39) |
E80K |
probably damaging |
Het |
| Prdm5 |
C |
A |
6: 65,860,578 (GRCm39) |
Q421K |
probably damaging |
Het |
| Rad54b |
A |
G |
4: 11,604,989 (GRCm39) |
E479G |
possibly damaging |
Het |
| Ralgapa1 |
A |
G |
12: 55,745,639 (GRCm39) |
S1239P |
probably damaging |
Het |
| Robo3 |
A |
G |
9: 37,330,235 (GRCm39) |
V1052A |
possibly damaging |
Het |
| Satb2 |
G |
T |
1: 56,987,356 (GRCm39) |
D83E |
probably damaging |
Het |
| Sccpdh |
T |
C |
1: 179,498,165 (GRCm39) |
S70P |
probably benign |
Het |
| Scn3a |
A |
G |
2: 65,291,643 (GRCm39) |
F1701S |
probably damaging |
Het |
| Srsf9 |
A |
G |
5: 115,465,368 (GRCm39) |
M1V |
probably null |
Het |
| Stk32a |
T |
A |
18: 43,430,659 (GRCm39) |
|
probably null |
Het |
| Sult2a5 |
A |
C |
7: 13,396,462 (GRCm39) |
Y183S |
probably benign |
Het |
| Tiam2 |
CGGG |
CGGGG |
17: 3,464,897 (GRCm39) |
|
probably null |
Het |
| Tnip2 |
G |
A |
5: 34,656,541 (GRCm39) |
Q255* |
probably null |
Het |
| Vmn1r26 |
A |
G |
6: 57,985,536 (GRCm39) |
W218R |
probably benign |
Het |
| Vmn2r61 |
A |
G |
7: 41,916,659 (GRCm39) |
Y424C |
probably benign |
Het |
| Vmn2r86 |
T |
A |
10: 130,291,763 (GRCm39) |
M1L |
probably damaging |
Het |
| Wnt3a |
A |
T |
11: 59,166,058 (GRCm39) |
I74N |
probably damaging |
Het |
| Zfyve1 |
A |
T |
12: 83,641,415 (GRCm39) |
H80Q |
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 |
|
R5743:Arhgap29
|
UTSW |
3 |
121,775,560 (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 |
|
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'- TGTTCAGGCAGCCAACATG -3'
(R):5'- ATCAACCTGAGGTGCCACAG -3'
Sequencing Primer
(F):5'- CAGCCAACATGGTACCTTAGGTG -3'
(R):5'- GCACCTGTGTTAGATATAACAACAGC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation