Incidental Mutation 'R7239:Arhgap29'
| ID |
563055 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap29
|
| Ensembl Gene |
ENSMUSG00000039831 |
| Gene Name |
Rho GTPase activating protein 29 |
| Synonyms |
C76601, Parg1, B130017I01Rik, 6720461J18Rik |
| MMRRC Submission |
045346-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7239 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
121746752-121810326 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 121782599 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 159
(S159L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044624
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037958]
[ENSMUST00000196479]
[ENSMUST00000196904]
[ENSMUST00000197155]
|
| AlphaFold |
Q8CGF1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037958
AA Change: S159L
PolyPhen 2
Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000044624
Gene: ENSMUSG00000039831
AA Change: S159L
| 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 |
possibly damaging
Transcript: ENSMUST00000196479
AA Change: S95L
PolyPhen 2
Score 0.459 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000142817
Gene: ENSMUSG00000039831
AA Change: S95L
| 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: S159L
PolyPhen 2
Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000142945
Gene: ENSMUSG00000039831
AA Change: S159L
| 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 benign
Transcript: ENSMUST00000198914
|
| Meta Mutation Damage Score |
0.1511 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
99% (76/77) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510009E07Rik |
A |
G |
16: 21,472,268 (GRCm39) |
V144A |
probably damaging |
Het |
| Abca5 |
A |
T |
11: 110,217,530 (GRCm39) |
Y109N |
possibly damaging |
Het |
| Abcb5 |
T |
C |
12: 118,892,460 (GRCm39) |
Q433R |
probably benign |
Het |
| Adamts7 |
G |
A |
9: 90,068,610 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
T |
C |
13: 81,624,731 (GRCm39) |
D3746G |
possibly damaging |
Het |
| Arhgap5 |
T |
A |
12: 52,564,159 (GRCm39) |
C377S |
probably benign |
Het |
| Atp1a3 |
G |
A |
7: 24,700,129 (GRCm39) |
P77L |
probably damaging |
Het |
| B4galt1 |
T |
C |
4: 40,812,754 (GRCm39) |
D257G |
probably damaging |
Het |
| Bin1 |
T |
A |
18: 32,539,224 (GRCm39) |
N52K |
probably damaging |
Het |
| Catsperg2 |
A |
G |
7: 29,409,507 (GRCm39) |
M562T |
probably benign |
Het |
| Ccdc33 |
G |
A |
9: 57,940,192 (GRCm39) |
Q713* |
probably null |
Het |
| Cd96 |
A |
T |
16: 45,929,477 (GRCm39) |
L156Q |
probably damaging |
Het |
| Clpb |
A |
G |
7: 101,360,662 (GRCm39) |
T231A |
probably damaging |
Het |
| Dnaaf9 |
C |
A |
2: 130,648,708 (GRCm39) |
R258L |
unknown |
Het |
| Dnmt3a |
A |
T |
12: 3,922,850 (GRCm39) |
Q151L |
probably benign |
Het |
| Dock2 |
C |
T |
11: 34,181,677 (GRCm39) |
V1629M |
probably benign |
Het |
| Edem1 |
G |
A |
6: 108,831,341 (GRCm39) |
D601N |
probably benign |
Het |
| Eno2 |
C |
T |
6: 124,745,228 (GRCm39) |
V20M |
probably damaging |
Het |
| Eny2 |
A |
C |
15: 44,297,250 (GRCm39) |
D52A |
probably benign |
Het |
| Esp36 |
T |
C |
17: 38,728,132 (GRCm39) |
R93G |
possibly damaging |
Het |
| Fam227a |
A |
G |
15: 79,518,263 (GRCm39) |
|
probably null |
Het |
| Fat4 |
C |
A |
3: 39,037,989 (GRCm39) |
H3880Q |
possibly damaging |
Het |
| Fbxw24 |
A |
T |
9: 109,434,598 (GRCm39) |
V334E |
possibly damaging |
Het |
| Flrt1 |
T |
C |
19: 7,073,329 (GRCm39) |
Q406R |
probably benign |
Het |
| Frmpd2 |
A |
G |
14: 33,274,034 (GRCm39) |
N1092S |
probably benign |
Het |
| Gm904 |
C |
A |
13: 50,799,287 (GRCm39) |
T82K |
probably benign |
Het |
| Gnas |
G |
C |
2: 174,140,408 (GRCm39) |
G252R |
unknown |
Het |
| Gpatch2l |
A |
G |
12: 86,307,349 (GRCm39) |
|
probably null |
Het |
| H2ac6 |
A |
T |
13: 23,867,593 (GRCm39) |
I103N |
probably damaging |
Het |
| Ift74 |
T |
C |
4: 94,541,187 (GRCm39) |
V204A |
probably benign |
Het |
| Ikzf4 |
A |
G |
10: 128,477,113 (GRCm39) |
L119P |
probably damaging |
Het |
| Ing3 |
G |
A |
6: 21,952,193 (GRCm39) |
E56K |
probably damaging |
Het |
| Klhl25 |
T |
C |
7: 75,516,516 (GRCm39) |
I474T |
probably benign |
Het |
| Klhl5 |
T |
C |
5: 65,318,529 (GRCm39) |
V556A |
probably damaging |
Het |
| Krt14 |
A |
T |
11: 100,095,081 (GRCm39) |
M382K |
probably benign |
Het |
| Lmcd1 |
T |
C |
6: 112,292,745 (GRCm39) |
V199A |
possibly damaging |
Het |
| Lpcat4 |
T |
A |
2: 112,073,052 (GRCm39) |
F200I |
possibly damaging |
Het |
| Lrp1b |
T |
C |
2: 40,894,725 (GRCm39) |
T2282A |
|
Het |
| Lrrk1 |
T |
C |
7: 65,911,903 (GRCm39) |
T1886A |
probably benign |
Het |
| Meis2 |
T |
C |
2: 115,889,484 (GRCm39) |
|
probably null |
Het |
| Mki67 |
C |
T |
7: 135,301,905 (GRCm39) |
R1043K |
possibly damaging |
Het |
| Myct1 |
G |
T |
10: 5,554,601 (GRCm39) |
R156L |
possibly damaging |
Het |
| Nckap5l |
G |
T |
15: 99,324,090 (GRCm39) |
H804Q |
probably damaging |
Het |
| Ndst3 |
T |
G |
3: 123,400,555 (GRCm39) |
E450D |
probably damaging |
Het |
| Nipbl |
A |
T |
15: 8,321,619 (GRCm39) |
|
probably null |
Het |
| Npy |
A |
G |
6: 49,800,587 (GRCm39) |
N4D |
probably benign |
Het |
| Or7g35 |
A |
T |
9: 19,496,487 (GRCm39) |
Y218F |
probably damaging |
Het |
| Osgin2 |
T |
C |
4: 16,008,748 (GRCm39) |
S18G |
probably benign |
Het |
| Pcdha9 |
T |
G |
18: 37,131,551 (GRCm39) |
F207V |
probably benign |
Het |
| Pcdhb13 |
A |
T |
18: 37,577,697 (GRCm39) |
I692F |
probably damaging |
Het |
| Pde3b |
T |
A |
7: 114,015,384 (GRCm39) |
V200E |
probably damaging |
Het |
| Ppp6r3 |
A |
T |
19: 3,543,981 (GRCm39) |
L345I |
probably benign |
Het |
| Psd2 |
G |
A |
18: 36,113,472 (GRCm39) |
A315T |
probably damaging |
Het |
| Rnf111 |
G |
A |
9: 70,376,655 (GRCm39) |
T328I |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,349,614 (GRCm39) |
L3825P |
|
Het |
| Rtl1 |
C |
T |
12: 109,558,909 (GRCm39) |
V977I |
probably benign |
Het |
| Scn1a |
G |
A |
2: 66,108,000 (GRCm39) |
|
probably null |
Het |
| Slc25a2 |
G |
T |
18: 37,770,748 (GRCm39) |
N260K |
probably benign |
Het |
| Sprtn |
T |
C |
8: 125,626,983 (GRCm39) |
V121A |
probably damaging |
Het |
| Ssx2ip |
T |
G |
3: 146,133,771 (GRCm39) |
L260W |
probably damaging |
Het |
| Syde1 |
G |
A |
10: 78,424,615 (GRCm39) |
R406C |
probably damaging |
Het |
| Tab1 |
A |
G |
15: 80,017,372 (GRCm39) |
R6G |
probably benign |
Het |
| Tenm4 |
G |
A |
7: 96,202,703 (GRCm39) |
R106H |
probably benign |
Het |
| Tenm4 |
G |
A |
7: 96,385,020 (GRCm39) |
V526I |
possibly damaging |
Het |
| Tfap2b |
T |
C |
1: 19,304,404 (GRCm39) |
F405L |
probably damaging |
Het |
| Trbv13-1 |
C |
A |
6: 41,093,325 (GRCm39) |
T87K |
probably benign |
Het |
| Trmt44 |
G |
T |
5: 35,732,130 (GRCm39) |
A87E |
probably benign |
Het |
| Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,376,118 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,617,634 (GRCm39) |
D16279G |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,711,672 (GRCm39) |
R8290C |
unknown |
Het |
| Ugt2b37 |
T |
A |
5: 87,402,590 (GRCm39) |
I14L |
probably benign |
Het |
| Vmn1r13 |
A |
T |
6: 57,187,611 (GRCm39) |
M257L |
probably benign |
Het |
| Vmn1r184 |
C |
T |
7: 25,966,602 (GRCm39) |
P116L |
possibly damaging |
Het |
| Zfp426 |
T |
C |
9: 20,381,887 (GRCm39) |
T367A |
probably benign |
Het |
| Zfp647 |
A |
T |
15: 76,795,956 (GRCm39) |
C235S |
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 |
|
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 |
|
R6528:Arhgap29
|
UTSW |
3 |
121,808,351 (GRCm39) |
missense |
probably benign |
0.13 |
|
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'- TGCCATCACAGCTCGACAAG -3'
(R):5'- TGGACCACATAACATAGACTCATG -3'
Sequencing Primer
(F):5'- CGACAAGAGCTACCTTCTGTG -3'
(R):5'- ACCAAATTATTGCTCCAGAAACTG -3'
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| Posted On |
2019-06-26 |
Incidental Mutation