Incidental Mutation 'R4957:Arhgap33'
ID |
381650 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgap33
|
Ensembl Gene |
ENSMUSG00000036882 |
Gene Name |
Rho GTPase activating protein 33 |
Synonyms |
Snx26, Tcgap, NOMA-GAP |
MMRRC Submission |
042554-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.187)
|
Stock # |
R4957 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
30221651-30234485 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 30231786 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Arginine
at position 101
(G101R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147001
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044338]
[ENSMUST00000207858]
[ENSMUST00000207860]
[ENSMUST00000208491]
[ENSMUST00000208522]
[ENSMUST00000208538]
|
AlphaFold |
Q80YF9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044338
AA Change: G101R
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000038412 Gene: ENSMUSG00000036882 AA Change: G101R
Domain | Start | End | E-Value | Type |
low complexity region
|
45 |
58 |
N/A |
INTRINSIC |
SH3
|
213 |
271 |
5.32e-12 |
SMART |
low complexity region
|
318 |
335 |
N/A |
INTRINSIC |
RhoGAP
|
350 |
531 |
4.05e-67 |
SMART |
low complexity region
|
582 |
595 |
N/A |
INTRINSIC |
low complexity region
|
597 |
609 |
N/A |
INTRINSIC |
low complexity region
|
675 |
686 |
N/A |
INTRINSIC |
low complexity region
|
694 |
733 |
N/A |
INTRINSIC |
low complexity region
|
770 |
798 |
N/A |
INTRINSIC |
low complexity region
|
832 |
850 |
N/A |
INTRINSIC |
low complexity region
|
894 |
940 |
N/A |
INTRINSIC |
low complexity region
|
979 |
988 |
N/A |
INTRINSIC |
low complexity region
|
1076 |
1086 |
N/A |
INTRINSIC |
low complexity region
|
1158 |
1166 |
N/A |
INTRINSIC |
low complexity region
|
1194 |
1216 |
N/A |
INTRINSIC |
low complexity region
|
1284 |
1291 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207637
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000207858
AA Change: G77R
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000207860
AA Change: G101R
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000208491
AA Change: G101R
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208522
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208538
AA Change: G101R
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208723
|
Meta Mutation Damage Score |
0.0817 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.5%
|
Validation Efficiency |
99% (80/81) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. Alternative splice variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2010] PHENOTYPE: Mice homozygous for a null mutation display region specific thinning of the cerebral cortex with reduced dendritic complexity. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110009E18Rik |
G |
C |
1: 120,096,840 (GRCm39) |
|
probably benign |
Het |
3110009E18Rik |
C |
T |
1: 120,096,850 (GRCm39) |
|
probably benign |
Het |
3110009E18Rik |
G |
T |
1: 120,096,849 (GRCm39) |
|
probably benign |
Het |
6820408C15Rik |
T |
A |
2: 152,286,013 (GRCm39) |
V342D |
probably damaging |
Het |
Atf7ip |
C |
T |
6: 136,583,808 (GRCm39) |
R1280C |
probably damaging |
Het |
Cacnb4 |
T |
C |
2: 52,448,303 (GRCm39) |
H8R |
probably damaging |
Het |
Ccdc150 |
T |
A |
1: 54,404,027 (GRCm39) |
|
probably benign |
Het |
Cd74 |
A |
G |
18: 60,942,109 (GRCm39) |
N113D |
probably benign |
Het |
Cdc25b |
T |
C |
2: 131,035,525 (GRCm39) |
V341A |
possibly damaging |
Het |
Clptm1l |
T |
A |
13: 73,759,315 (GRCm39) |
I245N |
possibly damaging |
Het |
Clptm1l |
T |
C |
13: 73,760,547 (GRCm39) |
I310T |
probably damaging |
Het |
Creb5 |
A |
T |
6: 53,670,907 (GRCm39) |
|
probably null |
Het |
Crebbp |
T |
C |
16: 3,935,231 (GRCm39) |
Q460R |
probably benign |
Het |
Dnah17 |
A |
T |
11: 117,965,124 (GRCm39) |
I2306N |
probably benign |
Het |
Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
Elovl1 |
A |
T |
4: 118,289,120 (GRCm39) |
H215L |
probably damaging |
Het |
Enkd1 |
A |
G |
8: 106,431,121 (GRCm39) |
I202T |
probably benign |
Het |
Epha7 |
C |
T |
4: 28,871,892 (GRCm39) |
A407V |
probably damaging |
Het |
Ercc3 |
G |
T |
18: 32,376,170 (GRCm39) |
G130W |
probably damaging |
Het |
Fbxl8 |
A |
G |
8: 105,994,827 (GRCm39) |
E113G |
probably damaging |
Het |
Frmpd1 |
T |
G |
4: 45,273,099 (GRCm39) |
N339K |
probably damaging |
Het |
Frrs1 |
G |
A |
3: 116,678,897 (GRCm39) |
D240N |
probably benign |
Het |
Gemin2 |
A |
G |
12: 59,063,954 (GRCm39) |
S105G |
probably benign |
Het |
Glra1 |
T |
A |
11: 55,418,224 (GRCm39) |
I257F |
probably damaging |
Het |
Gmcl1 |
G |
A |
6: 86,687,503 (GRCm39) |
P354S |
probably damaging |
Het |
Gpr15 |
G |
T |
16: 58,538,537 (GRCm39) |
A184E |
probably damaging |
Het |
Grm7 |
G |
A |
6: 111,335,824 (GRCm39) |
G745E |
probably damaging |
Het |
H2-T10 |
T |
A |
17: 36,428,308 (GRCm39) |
|
probably benign |
Het |
Hdac5 |
C |
A |
11: 102,096,082 (GRCm39) |
|
probably benign |
Het |
Ift22 |
G |
A |
5: 136,937,070 (GRCm39) |
|
probably benign |
Het |
Ighg3 |
T |
C |
12: 113,324,750 (GRCm39) |
E34G |
unknown |
Het |
Itga11 |
A |
T |
9: 62,674,930 (GRCm39) |
T821S |
probably benign |
Het |
Lmod2 |
T |
C |
6: 24,603,871 (GRCm39) |
V282A |
possibly damaging |
Het |
Maml2 |
A |
G |
9: 13,531,572 (GRCm39) |
K262R |
probably damaging |
Het |
Mme |
T |
A |
3: 63,250,910 (GRCm39) |
|
probably benign |
Het |
Mnat1 |
A |
G |
12: 73,170,652 (GRCm39) |
Y14C |
probably damaging |
Het |
Mtdh |
A |
T |
15: 34,083,281 (GRCm39) |
T34S |
possibly damaging |
Het |
Ncaph |
T |
C |
2: 126,963,177 (GRCm39) |
D352G |
possibly damaging |
Het |
Or2t43 |
A |
G |
11: 58,457,344 (GRCm39) |
Y276H |
probably damaging |
Het |
Or4f17-ps1 |
C |
A |
2: 111,358,569 (GRCm39) |
N321K |
probably benign |
Het |
Or5m9b |
T |
A |
2: 85,905,854 (GRCm39) |
Y257N |
probably damaging |
Het |
Or9g8 |
T |
C |
2: 85,607,459 (GRCm39) |
F177S |
probably damaging |
Het |
Pcdhb13 |
T |
A |
18: 37,577,837 (GRCm39) |
D738E |
possibly damaging |
Het |
Pla2g4f |
C |
T |
2: 120,130,980 (GRCm39) |
R825Q |
probably benign |
Het |
Pnliprp2 |
C |
T |
19: 58,763,577 (GRCm39) |
L409F |
possibly damaging |
Het |
Prlr |
G |
T |
15: 10,319,281 (GRCm39) |
C70F |
probably damaging |
Het |
Ptpn14 |
C |
T |
1: 189,583,469 (GRCm39) |
T772I |
probably benign |
Het |
Ryr2 |
T |
C |
13: 11,799,966 (GRCm39) |
Q927R |
probably damaging |
Het |
Scarf1 |
A |
G |
11: 75,416,460 (GRCm39) |
E634G |
probably benign |
Het |
Scart1 |
T |
C |
7: 139,808,435 (GRCm39) |
V782A |
probably damaging |
Het |
Skic3 |
T |
G |
13: 76,333,232 (GRCm39) |
|
probably null |
Het |
Slc39a14 |
A |
T |
14: 70,553,260 (GRCm39) |
S158R |
probably damaging |
Het |
Slc9c1 |
A |
T |
16: 45,365,194 (GRCm39) |
T176S |
probably benign |
Het |
Srsf10 |
T |
C |
4: 135,583,541 (GRCm39) |
S2P |
probably damaging |
Het |
Tcam1 |
T |
A |
11: 106,173,705 (GRCm39) |
C50S |
probably damaging |
Het |
Tcf7l2 |
A |
G |
19: 55,919,864 (GRCm39) |
|
probably null |
Het |
Tdrd3 |
T |
A |
14: 87,743,223 (GRCm39) |
H390Q |
probably benign |
Het |
Tlk2 |
T |
C |
11: 105,144,185 (GRCm39) |
|
probably null |
Het |
Tnc |
G |
C |
4: 63,894,793 (GRCm39) |
P1531R |
probably damaging |
Het |
Tnfrsf1b |
C |
A |
4: 144,973,327 (GRCm39) |
Q15H |
probably damaging |
Het |
Tnfrsf1b |
T |
G |
4: 144,973,328 (GRCm39) |
Q15P |
possibly damaging |
Het |
Tssk4 |
A |
T |
14: 55,889,266 (GRCm39) |
E264V |
probably damaging |
Het |
Ugt3a1 |
G |
A |
15: 9,365,274 (GRCm39) |
V296I |
probably benign |
Het |
Usp5 |
C |
G |
6: 124,799,593 (GRCm39) |
K318N |
possibly damaging |
Het |
Vmn2r8 |
T |
G |
5: 108,947,129 (GRCm39) |
E541A |
probably benign |
Het |
Ybx1 |
A |
T |
4: 119,136,135 (GRCm39) |
|
probably benign |
Het |
Zfp39 |
T |
A |
11: 58,782,057 (GRCm39) |
Y235F |
possibly damaging |
Het |
Zfp422 |
T |
A |
6: 116,603,904 (GRCm39) |
K32* |
probably null |
Het |
Zpbp2 |
T |
A |
11: 98,442,150 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Arhgap33 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01092:Arhgap33
|
APN |
7 |
30,229,371 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02176:Arhgap33
|
APN |
7 |
30,223,476 (GRCm39) |
missense |
possibly damaging |
0.76 |
IGL02430:Arhgap33
|
APN |
7 |
30,222,185 (GRCm39) |
missense |
probably benign |
0.07 |
IGL03091:Arhgap33
|
APN |
7 |
30,227,718 (GRCm39) |
missense |
probably damaging |
1.00 |
R0276:Arhgap33
|
UTSW |
7 |
30,222,669 (GRCm39) |
missense |
probably benign |
0.01 |
R0494:Arhgap33
|
UTSW |
7 |
30,223,921 (GRCm39) |
missense |
probably damaging |
0.98 |
R0597:Arhgap33
|
UTSW |
7 |
30,225,871 (GRCm39) |
missense |
probably damaging |
1.00 |
R0717:Arhgap33
|
UTSW |
7 |
30,227,774 (GRCm39) |
missense |
probably damaging |
1.00 |
R1661:Arhgap33
|
UTSW |
7 |
30,231,748 (GRCm39) |
missense |
probably damaging |
1.00 |
R1761:Arhgap33
|
UTSW |
7 |
30,232,488 (GRCm39) |
splice site |
probably null |
|
R1882:Arhgap33
|
UTSW |
7 |
30,222,234 (GRCm39) |
missense |
probably damaging |
1.00 |
R2161:Arhgap33
|
UTSW |
7 |
30,228,075 (GRCm39) |
splice site |
probably null |
|
R2566:Arhgap33
|
UTSW |
7 |
30,226,654 (GRCm39) |
missense |
probably damaging |
1.00 |
R4353:Arhgap33
|
UTSW |
7 |
30,223,561 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4552:Arhgap33
|
UTSW |
7 |
30,218,533 (GRCm39) |
unclassified |
probably benign |
|
R4778:Arhgap33
|
UTSW |
7 |
30,231,518 (GRCm39) |
missense |
probably benign |
|
R4887:Arhgap33
|
UTSW |
7 |
30,231,617 (GRCm39) |
missense |
probably damaging |
0.99 |
R5001:Arhgap33
|
UTSW |
7 |
30,232,441 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5140:Arhgap33
|
UTSW |
7 |
30,227,726 (GRCm39) |
missense |
probably damaging |
1.00 |
R5585:Arhgap33
|
UTSW |
7 |
30,223,260 (GRCm39) |
missense |
probably benign |
0.00 |
R5704:Arhgap33
|
UTSW |
7 |
30,219,045 (GRCm39) |
unclassified |
probably benign |
|
R5805:Arhgap33
|
UTSW |
7 |
30,225,839 (GRCm39) |
missense |
probably benign |
0.01 |
R6476:Arhgap33
|
UTSW |
7 |
30,223,837 (GRCm39) |
missense |
probably damaging |
0.99 |
R6485:Arhgap33
|
UTSW |
7 |
30,223,429 (GRCm39) |
missense |
probably benign |
|
R6572:Arhgap33
|
UTSW |
7 |
30,226,635 (GRCm39) |
missense |
probably damaging |
1.00 |
R7183:Arhgap33
|
UTSW |
7 |
30,225,296 (GRCm39) |
splice site |
probably null |
|
R7205:Arhgap33
|
UTSW |
7 |
30,232,434 (GRCm39) |
missense |
probably damaging |
0.99 |
R7241:Arhgap33
|
UTSW |
7 |
30,228,146 (GRCm39) |
missense |
probably damaging |
1.00 |
R7259:Arhgap33
|
UTSW |
7 |
30,231,625 (GRCm39) |
missense |
probably damaging |
1.00 |
R7319:Arhgap33
|
UTSW |
7 |
30,225,794 (GRCm39) |
missense |
probably benign |
|
R7384:Arhgap33
|
UTSW |
7 |
30,226,696 (GRCm39) |
missense |
probably damaging |
1.00 |
R7412:Arhgap33
|
UTSW |
7 |
30,222,477 (GRCm39) |
missense |
probably benign |
0.00 |
R7693:Arhgap33
|
UTSW |
7 |
30,225,537 (GRCm39) |
critical splice donor site |
probably null |
|
R7747:Arhgap33
|
UTSW |
7 |
30,223,560 (GRCm39) |
missense |
probably damaging |
0.98 |
R7893:Arhgap33
|
UTSW |
7 |
30,228,201 (GRCm39) |
missense |
probably benign |
0.34 |
R7915:Arhgap33
|
UTSW |
7 |
30,222,648 (GRCm39) |
missense |
probably benign |
0.08 |
R8819:Arhgap33
|
UTSW |
7 |
30,228,165 (GRCm39) |
missense |
probably benign |
0.09 |
R8820:Arhgap33
|
UTSW |
7 |
30,228,165 (GRCm39) |
missense |
probably benign |
0.09 |
R8912:Arhgap33
|
UTSW |
7 |
30,232,467 (GRCm39) |
splice site |
probably benign |
|
R8922:Arhgap33
|
UTSW |
7 |
30,223,417 (GRCm39) |
missense |
probably damaging |
0.99 |
R9211:Arhgap33
|
UTSW |
7 |
30,223,023 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9616:Arhgap33
|
UTSW |
7 |
30,229,367 (GRCm39) |
missense |
probably damaging |
0.99 |
R9755:Arhgap33
|
UTSW |
7 |
30,227,926 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9762:Arhgap33
|
UTSW |
7 |
30,230,950 (GRCm39) |
missense |
probably null |
1.00 |
X0034:Arhgap33
|
UTSW |
7 |
30,223,874 (GRCm39) |
small deletion |
probably benign |
|
Z1176:Arhgap33
|
UTSW |
7 |
30,222,142 (GRCm39) |
missense |
probably benign |
0.13 |
Z1177:Arhgap33
|
UTSW |
7 |
30,222,242 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1186:Arhgap33
|
UTSW |
7 |
30,223,904 (GRCm39) |
small insertion |
probably benign |
|
Z1186:Arhgap33
|
UTSW |
7 |
30,223,860 (GRCm39) |
missense |
probably benign |
|
Z1186:Arhgap33
|
UTSW |
7 |
30,223,076 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
Predicted Primers |
PCR Primer
(F):5'- GAAATCGTCATAGCTCCGGAG -3'
(R):5'- GGTTCTGATAGGCTCTGCTC -3'
Sequencing Primer
(F):5'- GAGGACTGGCCAGGAGC -3'
(R):5'- ATAGGCTCTGCTCTGTGACAAGAC -3'
|
Posted On |
2016-04-27 |