Incidental Mutation 'R8165:Arhgap29'
ID |
633706 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgap29
|
Ensembl Gene |
ENSMUSG00000039831 |
Gene Name |
Rho GTPase activating protein 29 |
Synonyms |
C76601, Parg1, B130017I01Rik, 6720461J18Rik |
MMRRC Submission |
067591-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8165 (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 121782222 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 142
(T142I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044624
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037958]
[ENSMUST00000196479]
[ENSMUST00000196904]
[ENSMUST00000197155]
|
AlphaFold |
Q8CGF1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037958
AA Change: T142I
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000044624 Gene: ENSMUSG00000039831 AA Change: T142I
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 damaging
Transcript: ENSMUST00000196479
AA Change: T78I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000142817 Gene: ENSMUSG00000039831 AA Change: T78I
Domain | Start | End | E-Value | Type |
PDB:3QWE|A
|
129 |
271 |
1e-28 |
PDB |
Blast:FCH
|
133 |
220 |
1e-10 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000196904
AA Change: T78I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000197155
AA Change: T142I
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000142945 Gene: ENSMUSG00000039831 AA Change: T142I
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
100% (65/65) |
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610040J01Rik |
C |
A |
5: 64,055,289 (GRCm39) |
|
probably null |
Het |
Amph |
A |
G |
13: 19,279,007 (GRCm39) |
K161E |
probably benign |
Het |
Aox1 |
A |
T |
1: 58,348,088 (GRCm39) |
H602L |
probably benign |
Het |
Areg |
A |
G |
5: 91,291,492 (GRCm39) |
N145S |
probably damaging |
Het |
Bcar3 |
C |
T |
3: 122,304,805 (GRCm39) |
|
probably benign |
Het |
Brpf3 |
C |
T |
17: 29,025,248 (GRCm39) |
A107V |
probably benign |
Het |
Btnl2 |
T |
A |
17: 34,587,682 (GRCm39) |
S509T |
possibly damaging |
Het |
Cacna2d2 |
A |
G |
9: 107,402,653 (GRCm39) |
|
probably null |
Het |
Casz1 |
C |
T |
4: 149,028,888 (GRCm39) |
P1111L |
probably damaging |
Het |
Ccdc91 |
C |
T |
6: 147,533,086 (GRCm39) |
T411I |
unknown |
Het |
Chd9 |
A |
C |
8: 91,767,769 (GRCm39) |
E2422A |
probably damaging |
Het |
Clrn3 |
T |
C |
7: 135,130,133 (GRCm39) |
I34V |
probably benign |
Het |
Cnksr3 |
C |
T |
10: 7,104,467 (GRCm39) |
D79N |
probably damaging |
Het |
Cops8 |
A |
G |
1: 90,539,729 (GRCm39) |
|
probably null |
Het |
Cpa2 |
A |
G |
6: 30,564,345 (GRCm39) |
K392R |
probably benign |
Het |
Dnajc28 |
G |
A |
16: 91,413,795 (GRCm39) |
R150* |
probably null |
Het |
Dnase1l3 |
T |
C |
14: 7,994,299 (GRCm38) |
|
probably benign |
Het |
Gdpd5 |
A |
T |
7: 99,105,689 (GRCm39) |
T502S |
probably benign |
Het |
Gp2 |
A |
T |
7: 119,049,375 (GRCm39) |
D387E |
probably damaging |
Het |
Gpr179 |
A |
G |
11: 97,242,364 (GRCm39) |
L160P |
probably benign |
Het |
Hmcn1 |
G |
A |
1: 150,522,409 (GRCm39) |
T3497M |
probably benign |
Het |
Idh3b |
T |
A |
2: 130,122,420 (GRCm39) |
T322S |
possibly damaging |
Het |
Kit |
A |
T |
5: 75,781,540 (GRCm39) |
N323I |
possibly damaging |
Het |
Kng2 |
T |
C |
16: 22,806,246 (GRCm39) |
S445G |
unknown |
Het |
Lin54 |
A |
G |
5: 100,602,358 (GRCm39) |
V393A |
probably benign |
Het |
Lyst |
T |
A |
13: 13,872,945 (GRCm39) |
W2715R |
probably damaging |
Het |
Mad1l1 |
T |
C |
5: 140,300,813 (GRCm39) |
T28A |
probably benign |
Het |
Med7 |
T |
A |
11: 46,332,073 (GRCm39) |
C223S |
probably benign |
Het |
Megf8 |
T |
A |
7: 25,053,298 (GRCm39) |
L1823Q |
probably damaging |
Het |
Mga |
C |
A |
2: 119,777,719 (GRCm39) |
Q1755K |
probably benign |
Het |
Mgat4b |
A |
T |
11: 50,101,801 (GRCm39) |
N22I |
probably benign |
Het |
Ndufb6 |
C |
T |
4: 40,270,665 (GRCm39) |
|
probably null |
Het |
Neil3 |
A |
G |
8: 54,042,129 (GRCm39) |
L490P |
probably benign |
Het |
Nek9 |
C |
T |
12: 85,350,417 (GRCm39) |
V886I |
probably benign |
Het |
Nol4l |
A |
T |
2: 153,262,473 (GRCm39) |
Y366* |
probably null |
Het |
Nt5dc2 |
A |
G |
14: 30,860,886 (GRCm39) |
T354A |
probably damaging |
Het |
Or1j11 |
T |
A |
2: 36,311,715 (GRCm39) |
Y102N |
probably damaging |
Het |
Pde2a |
G |
A |
7: 101,149,655 (GRCm39) |
|
probably null |
Het |
Phf1 |
T |
C |
17: 27,156,044 (GRCm39) |
F444L |
possibly damaging |
Het |
Plin4 |
G |
A |
17: 56,414,019 (GRCm39) |
T202I |
possibly damaging |
Het |
Plk4 |
G |
C |
3: 40,768,009 (GRCm39) |
V851L |
probably damaging |
Het |
Pp2d1 |
A |
G |
17: 53,822,257 (GRCm39) |
S270P |
probably damaging |
Het |
Ripor1 |
C |
A |
8: 106,347,520 (GRCm39) |
L1028M |
unknown |
Het |
Scn9a |
A |
G |
2: 66,370,874 (GRCm39) |
F569L |
probably damaging |
Het |
Sel1l2 |
T |
A |
2: 140,104,626 (GRCm39) |
L306F |
probably damaging |
Het |
Spic |
A |
T |
10: 88,513,428 (GRCm39) |
S86T |
probably damaging |
Het |
Spmip10 |
T |
A |
18: 56,722,547 (GRCm39) |
|
probably benign |
Het |
Stkld1 |
A |
G |
2: 26,836,668 (GRCm39) |
N278S |
probably benign |
Het |
Taar7d |
T |
A |
10: 23,903,495 (GRCm39) |
F126I |
probably benign |
Het |
Tbc1d31 |
A |
G |
15: 57,824,345 (GRCm39) |
E869G |
possibly damaging |
Het |
Tbcd |
C |
T |
11: 121,384,711 (GRCm39) |
T315M |
probably benign |
Het |
Terf2 |
T |
C |
8: 107,809,656 (GRCm39) |
K221E |
possibly damaging |
Het |
Thsd7a |
T |
A |
6: 12,468,962 (GRCm39) |
T539S |
|
Het |
Tll2 |
A |
G |
19: 41,077,313 (GRCm39) |
F818L |
possibly damaging |
Het |
Tmem87a |
T |
C |
2: 120,200,959 (GRCm39) |
T427A |
possibly damaging |
Het |
Ush2a |
C |
A |
1: 188,183,952 (GRCm39) |
Q1419K |
possibly damaging |
Het |
Vill |
T |
A |
9: 118,895,821 (GRCm39) |
F511Y |
probably damaging |
Het |
Virma |
T |
A |
4: 11,542,128 (GRCm39) |
D1521E |
probably benign |
Het |
Vps13c |
A |
G |
9: 67,766,072 (GRCm39) |
D63G |
probably benign |
Het |
Vrk2 |
A |
G |
11: 26,485,575 (GRCm39) |
F138L |
probably benign |
Het |
Zfp710 |
T |
C |
7: 79,735,775 (GRCm39) |
I514T |
probably damaging |
Het |
Zgrf1 |
T |
A |
3: 127,357,032 (GRCm39) |
F753I |
possibly 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 |
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 |
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'- TGGACTTGCAATCCCAGCTAC -3'
(R):5'- TTGCGATACAGTCAATAGAGCAAC -3'
Sequencing Primer
(F):5'- TGCAAACTGATGCTCTTCATG -3'
(R):5'- CACAGAAGGTAGCTCTTGTCG -3'
|
Posted On |
2020-07-13 |