Incidental Mutation 'R1295:Arhgap29'
ID |
158048 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgap29
|
Ensembl Gene |
ENSMUSG00000039831 |
Gene Name |
Rho GTPase activating protein 29 |
Synonyms |
C76601, Parg1, B130017I01Rik, 6720461J18Rik |
MMRRC Submission |
039361-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1295 (G1)
|
Quality Score |
207 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
121746752-121810326 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 121786044 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 275
(H275R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142945
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037958]
[ENSMUST00000196479]
[ENSMUST00000196904]
[ENSMUST00000197155]
|
AlphaFold |
Q8CGF1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037958
AA Change: H275R
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000044624 Gene: ENSMUSG00000039831 AA Change: H275R
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
AA Change: H211R
PolyPhen 2
Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000142817 Gene: ENSMUSG00000039831 AA Change: H211R
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 |
probably benign
Transcript: ENSMUST00000197155
AA Change: H275R
PolyPhen 2
Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000142945 Gene: ENSMUSG00000039831 AA Change: H275R
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: ENSMUST00000198594
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000198914
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199081
|
Meta Mutation Damage Score |
0.0610 |
Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.4%
- 10x: 93.1%
- 20x: 82.0%
|
Validation Efficiency |
98% (81/83) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ackr2 |
A |
G |
9: 121,737,783 (GRCm39) |
S53G |
possibly damaging |
Het |
Adgrb1 |
T |
A |
15: 74,421,888 (GRCm39) |
L886Q |
probably damaging |
Het |
Adprhl1 |
G |
A |
8: 13,298,624 (GRCm39) |
T102M |
probably damaging |
Het |
Akap6 |
A |
C |
12: 52,933,812 (GRCm39) |
K435Q |
probably damaging |
Het |
Aldh7a1 |
T |
C |
18: 56,680,022 (GRCm39) |
|
probably null |
Het |
Amfr |
T |
C |
8: 94,701,432 (GRCm39) |
R507G |
probably benign |
Het |
Ap1m1 |
T |
A |
8: 73,005,719 (GRCm39) |
|
probably null |
Het |
Arhgef17 |
C |
A |
7: 100,530,476 (GRCm39) |
E428* |
probably null |
Het |
Atm |
A |
T |
9: 53,367,830 (GRCm39) |
V2431E |
probably damaging |
Het |
Atn1 |
G |
T |
6: 124,724,750 (GRCm39) |
P161Q |
unknown |
Het |
Atp13a2 |
T |
C |
4: 140,721,113 (GRCm39) |
S99P |
probably damaging |
Het |
Ccar1 |
C |
A |
10: 62,619,661 (GRCm39) |
|
probably null |
Het |
Cdk18 |
T |
C |
1: 132,047,698 (GRCm39) |
|
probably benign |
Het |
Cep85 |
A |
G |
4: 133,894,711 (GRCm39) |
W32R |
probably damaging |
Het |
Col5a3 |
A |
G |
9: 20,719,714 (GRCm39) |
F215S |
unknown |
Het |
Decr1 |
T |
C |
4: 15,919,207 (GRCm39) |
N312S |
possibly damaging |
Het |
Diaph3 |
A |
T |
14: 87,244,835 (GRCm39) |
W178R |
probably damaging |
Het |
Dync2h1 |
A |
G |
9: 7,075,752 (GRCm39) |
|
probably benign |
Het |
Ehd3 |
C |
A |
17: 74,135,181 (GRCm39) |
D352E |
probably damaging |
Het |
Enpp6 |
T |
G |
8: 47,518,535 (GRCm39) |
I221S |
probably benign |
Het |
Fam186a |
T |
C |
15: 99,837,670 (GRCm39) |
|
probably benign |
Het |
Gm5435 |
G |
T |
12: 82,542,558 (GRCm39) |
|
noncoding transcript |
Het |
Gpr22 |
A |
C |
12: 31,759,513 (GRCm39) |
I203S |
probably benign |
Het |
Gpr61 |
A |
G |
3: 108,057,797 (GRCm39) |
V288A |
possibly damaging |
Het |
Grik3 |
G |
A |
4: 125,598,357 (GRCm39) |
|
probably benign |
Het |
Gstcd |
T |
C |
3: 132,711,389 (GRCm39) |
N431D |
probably damaging |
Het |
H1f5 |
T |
C |
13: 21,964,169 (GRCm39) |
S186G |
probably benign |
Het |
Haao |
T |
A |
17: 84,146,267 (GRCm39) |
Q69L |
probably benign |
Het |
Ift140 |
G |
T |
17: 25,307,907 (GRCm39) |
|
probably null |
Het |
Ikbke |
A |
G |
1: 131,197,963 (GRCm39) |
V381A |
probably benign |
Het |
Ing1 |
A |
C |
8: 11,611,501 (GRCm39) |
I38L |
probably benign |
Het |
Ing1 |
T |
A |
8: 11,611,502 (GRCm39) |
I38N |
probably damaging |
Het |
Itga4 |
A |
G |
2: 79,153,033 (GRCm39) |
M907V |
possibly damaging |
Het |
Kcnk12 |
C |
T |
17: 88,053,801 (GRCm39) |
G287D |
probably damaging |
Het |
Kmt2e |
A |
C |
5: 23,707,402 (GRCm39) |
H1655P |
probably damaging |
Het |
Mbtd1 |
A |
G |
11: 93,801,185 (GRCm39) |
Y122C |
probably damaging |
Het |
Mif-ps9 |
T |
A |
19: 56,743,766 (GRCm39) |
|
noncoding transcript |
Het |
Mslnl |
T |
C |
17: 25,962,214 (GRCm39) |
L204P |
probably damaging |
Het |
Muc6 |
T |
C |
7: 141,238,144 (GRCm39) |
E112G |
probably benign |
Het |
Nav3 |
T |
A |
10: 109,527,963 (GRCm39) |
D2240V |
probably damaging |
Het |
Ndufaf3 |
T |
C |
9: 108,443,892 (GRCm39) |
T9A |
probably damaging |
Het |
Numb |
C |
A |
12: 83,842,935 (GRCm39) |
|
probably benign |
Het |
Prodh2 |
T |
C |
7: 30,193,514 (GRCm39) |
V79A |
probably damaging |
Het |
Psmb2 |
A |
G |
4: 126,580,825 (GRCm39) |
Y73C |
probably damaging |
Het |
Rmnd5a |
G |
A |
6: 71,375,439 (GRCm39) |
L80F |
probably benign |
Het |
Rnf19a |
G |
T |
15: 36,244,247 (GRCm39) |
Y604* |
probably null |
Het |
Ros1 |
T |
A |
10: 51,964,028 (GRCm39) |
E1744V |
possibly damaging |
Het |
Rpusd2 |
T |
C |
2: 118,867,408 (GRCm39) |
F219L |
probably benign |
Het |
Sall2 |
T |
C |
14: 52,551,182 (GRCm39) |
N671S |
probably damaging |
Het |
Sele |
T |
A |
1: 163,878,379 (GRCm39) |
S239R |
probably damaging |
Het |
Serpina3b |
T |
C |
12: 104,097,138 (GRCm39) |
F140L |
probably damaging |
Het |
Stxbp1 |
A |
T |
2: 32,684,648 (GRCm39) |
S594T |
probably benign |
Het |
Sufu |
G |
A |
19: 46,443,159 (GRCm39) |
|
probably benign |
Het |
Tbx2 |
A |
G |
11: 85,725,592 (GRCm39) |
E181G |
probably damaging |
Het |
Thumpd2 |
A |
G |
17: 81,363,317 (GRCm39) |
V50A |
probably damaging |
Het |
Tlcd4 |
A |
G |
3: 121,000,940 (GRCm39) |
V231A |
probably benign |
Het |
Ttn |
C |
A |
2: 76,573,589 (GRCm39) |
R17441L |
probably damaging |
Het |
Usp34 |
A |
G |
11: 23,334,477 (GRCm39) |
Y1157C |
probably damaging |
Het |
Vmn1r9 |
T |
C |
6: 57,048,522 (GRCm39) |
V199A |
probably damaging |
Het |
Vmn2r6 |
A |
G |
3: 64,445,694 (GRCm39) |
F677S |
probably damaging |
Het |
Vmn2r84 |
C |
T |
10: 130,225,008 (GRCm39) |
A501T |
probably benign |
Het |
Wapl |
C |
T |
14: 34,446,726 (GRCm39) |
P605S |
probably damaging |
Het |
Zfp598 |
A |
G |
17: 24,898,623 (GRCm39) |
N474S |
probably benign |
Het |
Zfyve26 |
A |
G |
12: 79,321,694 (GRCm39) |
L975P |
probably damaging |
Het |
Zp3r |
C |
T |
1: 130,519,181 (GRCm39) |
G255D |
probably damaging |
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 |
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 |
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'- GACTTCCCAGTCCATTCACAGGAAAG -3'
(R):5'- TTGGATAAACAGGCCAGTGGCG -3'
Sequencing Primer
(F):5'- CACAGGAAAGAACATAATTGTTGACC -3'
(R):5'- CTGTTGCTGCTTCCAAAGG -3'
|
Posted On |
2014-02-18 |