Incidental Mutation 'R1403:Arhgap29'
ID |
188597 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgap29
|
Ensembl Gene |
ENSMUSG00000039831 |
Gene Name |
Rho GTPase activating protein 29 |
Synonyms |
C76601, Parg1, B130017I01Rik, 6720461J18Rik |
MMRRC Submission |
039465-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1403 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
121746752-121810326 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 121767578 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 7
(K7E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044624
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037958]
[ENSMUST00000196479]
[ENSMUST00000196904]
[ENSMUST00000196984]
[ENSMUST00000197155]
|
AlphaFold |
Q8CGF1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037958
AA Change: K7E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000044624 Gene: ENSMUSG00000039831 AA Change: K7E
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: ENSMUST00000196479
|
SMART Domains |
Protein: ENSMUSP00000142817 Gene: ENSMUSG00000039831
Domain | Start | End | E-Value | Type |
PDB:3QWE|A
|
129 |
271 |
1e-28 |
PDB |
Blast:FCH
|
133 |
220 |
1e-10 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000196904
|
Predicted Effect |
silent
Transcript: ENSMUST00000196984
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000197155
AA Change: K7E
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000142945 Gene: ENSMUSG00000039831 AA Change: K7E
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 |
|
Meta Mutation Damage Score |
0.0623 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.5%
|
Validation Efficiency |
94% (51/54) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
G |
A |
4: 53,059,253 (GRCm39) |
|
probably benign |
Het |
AC238840.3 |
T |
G |
7: 38,567,345 (GRCm39) |
I28L |
probably benign |
Het |
Acsf2 |
G |
T |
11: 94,453,700 (GRCm39) |
N420K |
probably benign |
Het |
Adam26a |
A |
T |
8: 44,022,229 (GRCm39) |
C420* |
probably null |
Het |
Afap1l1 |
T |
C |
18: 61,874,909 (GRCm39) |
Y424C |
probably damaging |
Het |
Agl |
A |
G |
3: 116,576,246 (GRCm39) |
V553A |
probably benign |
Het |
Akr7a5 |
T |
A |
4: 139,045,434 (GRCm39) |
M325K |
probably damaging |
Het |
Akt3 |
C |
T |
1: 176,958,676 (GRCm39) |
|
probably benign |
Het |
Aldh7a1 |
C |
A |
18: 56,692,341 (GRCm39) |
E87* |
probably null |
Het |
Brca2 |
T |
A |
5: 150,466,114 (GRCm39) |
D1959E |
probably benign |
Het |
Cdc42se2 |
A |
G |
11: 54,611,192 (GRCm39) |
|
probably benign |
Het |
Cdh20 |
G |
A |
1: 109,988,862 (GRCm39) |
V255I |
probably benign |
Het |
Chil5 |
G |
T |
3: 105,925,409 (GRCm39) |
Q171K |
probably benign |
Het |
Cul9 |
C |
G |
17: 46,833,101 (GRCm39) |
A1326P |
probably damaging |
Het |
Dhrs7c |
A |
T |
11: 67,702,476 (GRCm39) |
I155F |
probably damaging |
Het |
Dip2c |
A |
G |
13: 9,603,300 (GRCm39) |
|
probably null |
Het |
Ell |
T |
A |
8: 71,044,138 (GRCm39) |
|
probably benign |
Het |
Fam124b |
T |
C |
1: 80,191,056 (GRCm39) |
Y109C |
possibly damaging |
Het |
Gak |
T |
A |
5: 108,739,011 (GRCm39) |
K156M |
probably damaging |
Het |
Gm9797 |
C |
A |
10: 11,485,294 (GRCm39) |
|
noncoding transcript |
Het |
Got1l1 |
C |
G |
8: 27,690,745 (GRCm39) |
|
probably null |
Het |
Grm1 |
T |
C |
10: 10,955,879 (GRCm39) |
D135G |
probably benign |
Het |
Hrh3 |
T |
G |
2: 179,744,547 (GRCm39) |
D131A |
probably damaging |
Het |
Itpr1 |
A |
T |
6: 108,366,514 (GRCm39) |
Q979L |
probably null |
Het |
Kdm7a |
C |
A |
6: 39,128,187 (GRCm39) |
|
probably benign |
Het |
Klb |
G |
C |
5: 65,506,089 (GRCm39) |
R112P |
possibly damaging |
Het |
Lingo2 |
A |
T |
4: 35,709,420 (GRCm39) |
C187S |
possibly damaging |
Het |
Lrp1 |
T |
A |
10: 127,417,760 (GRCm39) |
|
probably null |
Het |
Ltbp4 |
T |
C |
7: 27,028,464 (GRCm39) |
N266S |
unknown |
Het |
Mgam |
G |
A |
6: 40,643,815 (GRCm39) |
S581N |
possibly damaging |
Het |
Mrgpra9 |
T |
A |
7: 46,885,386 (GRCm39) |
I94L |
probably benign |
Het |
Msantd4 |
A |
T |
9: 4,384,023 (GRCm39) |
I115F |
probably benign |
Het |
Mterf3 |
A |
G |
13: 67,077,944 (GRCm39) |
|
probably benign |
Het |
Neurl1a |
C |
A |
19: 47,242,150 (GRCm39) |
N414K |
probably damaging |
Het |
Nfkbiz |
A |
G |
16: 55,636,833 (GRCm39) |
|
probably benign |
Het |
Nrxn1 |
A |
C |
17: 90,950,481 (GRCm39) |
L566R |
probably benign |
Het |
Nsmce1 |
A |
G |
7: 125,067,027 (GRCm39) |
|
probably benign |
Het |
Or5p59 |
T |
A |
7: 107,702,822 (GRCm39) |
I102N |
probably benign |
Het |
Prl7d1 |
A |
T |
13: 27,893,180 (GRCm39) |
F243I |
possibly damaging |
Het |
Rbm27 |
T |
C |
18: 42,450,746 (GRCm39) |
S509P |
probably damaging |
Het |
Rnf126 |
C |
T |
10: 79,596,702 (GRCm39) |
A239T |
probably benign |
Het |
Rnf44 |
C |
T |
13: 54,829,821 (GRCm39) |
E306K |
probably damaging |
Het |
Rp1 |
T |
C |
1: 4,416,520 (GRCm39) |
R1531G |
possibly damaging |
Het |
Sf3b4 |
A |
G |
3: 96,080,953 (GRCm39) |
|
probably null |
Het |
Stk4 |
C |
T |
2: 163,942,448 (GRCm39) |
T360M |
probably benign |
Het |
Syt15 |
C |
A |
14: 33,943,159 (GRCm39) |
|
probably benign |
Het |
Vcan |
T |
A |
13: 89,836,603 (GRCm39) |
E2980D |
probably benign |
Het |
Vps13b |
A |
G |
15: 35,709,268 (GRCm39) |
|
probably benign |
Het |
Vwa2 |
C |
T |
19: 56,869,570 (GRCm39) |
P2S |
unknown |
Het |
Wdr77 |
G |
A |
3: 105,874,573 (GRCm39) |
V322I |
possibly damaging |
Het |
Zfp12 |
C |
A |
5: 143,230,535 (GRCm39) |
Y287* |
probably null |
Het |
Zfp937 |
T |
A |
2: 150,080,868 (GRCm39) |
Y299* |
probably null |
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 |
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 |
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'- GGAAAGCTCAGGCTCTTTGCATTG -3'
(R):5'- TGCTCTTGTCATGGGACACACATTG -3'
Sequencing Primer
(F):5'- ATCATGGAGTTGTCAGACACTCG -3'
(R):5'- GTTGACAAACCTGAAAGAATAGCTTC -3'
|
Posted On |
2014-05-09 |