Incidental Mutation 'R6528:Arhgap29'
ID |
522049 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgap29
|
Ensembl Gene |
ENSMUSG00000039831 |
Gene Name |
Rho GTPase activating protein 29 |
Synonyms |
C76601, Parg1, B130017I01Rik, 6720461J18Rik |
MMRRC Submission |
044654-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6528 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
121746752-121810326 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 121808351 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 1176
(N1176K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044624
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037958]
[ENSMUST00000197155]
|
AlphaFold |
Q8CGF1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037958
AA Change: N1176K
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000044624 Gene: ENSMUSG00000039831 AA Change: N1176K
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: N768K
|
Meta Mutation Damage Score |
0.0846 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.6%
|
Validation Efficiency |
98% (55/56) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam29 |
C |
T |
8: 56,325,596 (GRCm39) |
R286H |
possibly damaging |
Het |
Cacfd1 |
T |
G |
2: 26,908,951 (GRCm39) |
D97E |
probably benign |
Het |
Ccnj |
C |
A |
19: 40,820,529 (GRCm39) |
|
probably null |
Het |
Chad |
A |
G |
11: 94,456,450 (GRCm39) |
Y176C |
probably damaging |
Het |
Chd5 |
T |
C |
4: 152,441,133 (GRCm39) |
L191P |
probably damaging |
Het |
Cmtm1 |
T |
C |
8: 105,035,927 (GRCm39) |
D190G |
possibly damaging |
Het |
Cyp3a16 |
C |
T |
5: 145,377,241 (GRCm39) |
A449T |
probably damaging |
Het |
Eml5 |
T |
C |
12: 98,790,896 (GRCm39) |
E1334G |
probably benign |
Het |
Endou |
C |
T |
15: 97,617,510 (GRCm39) |
E147K |
probably damaging |
Het |
Fbxo21 |
C |
A |
5: 118,138,421 (GRCm39) |
H449N |
probably benign |
Het |
Fkbp15 |
A |
G |
4: 62,250,507 (GRCm39) |
I363T |
probably damaging |
Het |
Gm12887 |
C |
A |
4: 121,472,834 (GRCm39) |
G103C |
probably damaging |
Het |
Gm14410 |
T |
A |
2: 176,885,301 (GRCm39) |
H321L |
probably damaging |
Het |
Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
Irgm2 |
C |
T |
11: 58,110,878 (GRCm39) |
P202S |
probably benign |
Het |
Khsrp |
G |
A |
17: 57,330,543 (GRCm39) |
T551I |
probably damaging |
Het |
Lpin2 |
T |
A |
17: 71,551,000 (GRCm39) |
I720N |
probably damaging |
Het |
Lypd8 |
G |
A |
11: 58,275,439 (GRCm39) |
G58E |
probably damaging |
Het |
Mdn1 |
G |
T |
4: 32,713,780 (GRCm39) |
L1952F |
probably damaging |
Het |
Med13 |
G |
A |
11: 86,189,780 (GRCm39) |
P1043L |
probably damaging |
Het |
Mycbp2 |
T |
C |
14: 103,380,317 (GRCm39) |
T3832A |
probably damaging |
Het |
Nrxn3 |
C |
T |
12: 89,479,819 (GRCm39) |
R654C |
probably damaging |
Het |
Or10a3m |
T |
C |
7: 108,312,638 (GRCm39) |
L14P |
probably damaging |
Het |
Or12j3 |
G |
T |
7: 139,953,354 (GRCm39) |
H56Q |
possibly damaging |
Het |
Or13a22 |
A |
G |
7: 140,072,964 (GRCm39) |
M138V |
probably damaging |
Het |
Or8k35 |
T |
C |
2: 86,424,809 (GRCm39) |
D121G |
probably damaging |
Het |
Pcdhb6 |
A |
G |
18: 37,467,556 (GRCm39) |
D159G |
probably damaging |
Het |
Plec |
T |
C |
15: 76,058,630 (GRCm39) |
E3759G |
probably damaging |
Het |
Plekho1 |
C |
T |
3: 95,896,633 (GRCm39) |
D236N |
probably damaging |
Het |
Pnma1 |
T |
A |
12: 84,194,197 (GRCm39) |
I169F |
probably benign |
Het |
Ppl |
T |
A |
16: 4,905,480 (GRCm39) |
H1605L |
probably benign |
Het |
Ppp2r2b |
T |
A |
18: 42,821,403 (GRCm39) |
M252L |
probably benign |
Het |
Pramel29 |
A |
G |
4: 143,935,381 (GRCm39) |
V120A |
probably damaging |
Het |
Prickle4 |
T |
A |
17: 48,000,258 (GRCm39) |
R246* |
probably null |
Het |
Rad50 |
G |
A |
11: 53,543,109 (GRCm39) |
T1235I |
probably damaging |
Het |
Ranbp10 |
T |
C |
8: 106,506,588 (GRCm39) |
N244S |
probably damaging |
Het |
Robo4 |
T |
C |
9: 37,315,664 (GRCm39) |
S306P |
possibly damaging |
Het |
Shox2 |
C |
A |
3: 66,888,618 (GRCm39) |
R91L |
probably benign |
Het |
Tbx5 |
A |
G |
5: 120,021,176 (GRCm39) |
E394G |
probably damaging |
Het |
Tcl1b5 |
A |
G |
12: 105,145,258 (GRCm39) |
N74S |
probably benign |
Het |
Tgif1 |
G |
A |
17: 71,153,555 (GRCm39) |
|
probably benign |
Het |
Tmem128 |
T |
A |
5: 38,423,843 (GRCm39) |
|
probably null |
Het |
Trio |
A |
G |
15: 27,805,956 (GRCm39) |
S511P |
probably damaging |
Het |
Trps1 |
A |
G |
15: 50,685,823 (GRCm39) |
I114T |
probably benign |
Het |
Ttll8 |
G |
T |
15: 88,798,441 (GRCm39) |
Q765K |
probably benign |
Het |
Usp17ld |
A |
T |
7: 102,899,962 (GRCm39) |
D323E |
probably damaging |
Het |
Vmn1r232 |
G |
A |
17: 21,134,309 (GRCm39) |
T97I |
probably benign |
Het |
Vmn2r28 |
T |
A |
7: 5,493,684 (GRCm39) |
R87S |
probably benign |
Het |
Vps26b |
C |
G |
9: 26,921,762 (GRCm39) |
E254D |
probably benign |
Het |
Vps8 |
C |
A |
16: 21,372,875 (GRCm39) |
Y113* |
probably null |
Het |
Wwc1 |
C |
T |
11: 35,744,264 (GRCm39) |
E853K |
probably benign |
Het |
Xcr1 |
A |
T |
9: 123,685,048 (GRCm39) |
I238N |
probably damaging |
Het |
Zar1l |
T |
A |
5: 150,430,595 (GRCm39) |
E272V |
probably damaging |
Het |
Zfp451 |
A |
G |
1: 33,816,862 (GRCm39) |
Y146H |
probably damaging |
Het |
Zfp54 |
G |
T |
17: 21,653,736 (GRCm39) |
E77* |
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 |
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 |
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'- CACTGGGAATAACAGGGACC -3'
(R):5'- GGTCTTCAAATTGCTGCATTCG -3'
Sequencing Primer
(F):5'- GGACCATCCCGGCAGTAAAG -3'
(R):5'- TCTCTGGCAAGTTGGAGTCCC -3'
|
Posted On |
2018-06-06 |