Incidental Mutation 'R4628:Iqgap2'
ID |
348987 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Iqgap2
|
Ensembl Gene |
ENSMUSG00000021676 |
Gene Name |
IQ motif containing GTPase activating protein 2 |
Synonyms |
4933417J23Rik |
MMRRC Submission |
041893-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4628 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
95763685-96028788 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 95899837 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 74
(Y74H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000067685
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068603]
|
AlphaFold |
Q3UQ44 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000068603
AA Change: Y74H
PolyPhen 2
Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000067685 Gene: ENSMUSG00000021676 AA Change: Y74H
Domain | Start | End | E-Value | Type |
CH
|
43 |
152 |
3.32e-16 |
SMART |
coiled coil region
|
253 |
276 |
N/A |
INTRINSIC |
low complexity region
|
469 |
480 |
N/A |
INTRINSIC |
IQ
|
689 |
711 |
1.38e-4 |
SMART |
IQ
|
719 |
741 |
7.36e0 |
SMART |
IQ
|
749 |
771 |
2.43e1 |
SMART |
coiled coil region
|
799 |
828 |
N/A |
INTRINSIC |
RasGAP
|
905 |
1258 |
2.6e-120 |
SMART |
Pfam:RasGAP_C
|
1367 |
1498 |
3.2e-40 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
|
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 IQGAP family. The protein contains three IQ domains, one calponin homology domain, one Ras-GAP domain and one WW domain. It interacts with components of the cytoskeleton, with cell adhesion molecules, and with several signaling molecules to regulate cell morphology and motility. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a null mutation display reduced survival with increased incidence of hepatocellular carcinomas, increased hepatocyte apoptosis, and hepatocyte mitochondrial abnormalities. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
G |
T |
10: 79,851,022 (GRCm39) |
|
probably null |
Het |
Abcb4 |
A |
G |
5: 8,957,399 (GRCm39) |
D176G |
probably benign |
Het |
Adamts18 |
C |
T |
8: 114,499,800 (GRCm39) |
W371* |
probably null |
Het |
Akr1c13 |
G |
T |
13: 4,247,869 (GRCm39) |
V214F |
probably damaging |
Het |
Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
Ankrd12 |
T |
C |
17: 66,292,989 (GRCm39) |
T815A |
probably benign |
Het |
Arid3a |
T |
C |
10: 79,766,992 (GRCm39) |
S89P |
possibly damaging |
Het |
Ass1 |
A |
T |
2: 31,371,000 (GRCm39) |
D63V |
probably damaging |
Het |
Atxn3 |
T |
A |
12: 101,889,337 (GRCm39) |
|
probably benign |
Het |
Bcap29 |
C |
T |
12: 31,676,806 (GRCm39) |
S88N |
probably benign |
Het |
Bsn |
G |
T |
9: 107,990,434 (GRCm39) |
P1773T |
probably damaging |
Het |
Ccdc141 |
A |
G |
2: 76,890,024 (GRCm39) |
S423P |
probably benign |
Het |
Cfap46 |
A |
T |
7: 139,260,843 (GRCm39) |
L85Q |
probably damaging |
Het |
Chd8 |
T |
C |
14: 52,444,372 (GRCm39) |
R438G |
probably benign |
Het |
Chd9 |
T |
A |
8: 91,710,091 (GRCm39) |
M289K |
probably benign |
Het |
Col14a1 |
T |
A |
15: 55,313,229 (GRCm39) |
Y26* |
probably null |
Het |
Colec10 |
A |
G |
15: 54,323,127 (GRCm39) |
T117A |
possibly damaging |
Het |
Colq |
C |
A |
14: 31,265,979 (GRCm39) |
G178V |
probably damaging |
Het |
Defb3 |
A |
T |
8: 19,345,156 (GRCm39) |
R37S |
probably benign |
Het |
Duox1 |
A |
G |
2: 122,176,733 (GRCm39) |
Y1418C |
probably damaging |
Het |
Engase |
C |
T |
11: 118,375,731 (GRCm39) |
S33F |
probably damaging |
Het |
Erich3 |
A |
T |
3: 154,469,324 (GRCm39) |
T1259S |
probably damaging |
Het |
Fam98c |
T |
C |
7: 28,854,693 (GRCm39) |
T49A |
possibly damaging |
Het |
Fhod3 |
T |
A |
18: 25,253,186 (GRCm39) |
F1379I |
possibly damaging |
Het |
Fndc3b |
T |
C |
3: 27,610,277 (GRCm39) |
I86V |
probably benign |
Het |
Gm1123 |
A |
G |
9: 98,896,289 (GRCm39) |
V197A |
probably damaging |
Het |
Gm4847 |
A |
T |
1: 166,457,964 (GRCm39) |
V463E |
probably damaging |
Het |
Gm9772 |
T |
C |
17: 22,226,188 (GRCm39) |
K32R |
probably damaging |
Het |
Gm9804 |
T |
C |
12: 49,448,540 (GRCm39) |
S161P |
unknown |
Het |
Gpr162 |
C |
T |
6: 124,838,405 (GRCm39) |
D82N |
probably benign |
Het |
Grid2ip |
T |
C |
5: 143,368,630 (GRCm39) |
V650A |
probably damaging |
Het |
Hs1bp3 |
T |
C |
12: 8,386,357 (GRCm39) |
V253A |
probably benign |
Het |
Hsd3b6 |
T |
G |
3: 98,713,895 (GRCm39) |
K135Q |
possibly damaging |
Het |
Igfn1 |
T |
C |
1: 135,887,468 (GRCm39) |
D2532G |
possibly damaging |
Het |
Itga2 |
A |
G |
13: 115,014,229 (GRCm39) |
V233A |
probably benign |
Het |
Kat14 |
A |
G |
2: 144,246,140 (GRCm39) |
|
probably benign |
Het |
Kctd21 |
A |
G |
7: 96,996,782 (GRCm39) |
D85G |
probably damaging |
Het |
Kera |
A |
G |
10: 97,445,493 (GRCm39) |
N284S |
probably benign |
Het |
Krt1 |
C |
T |
15: 101,754,622 (GRCm39) |
G543S |
unknown |
Het |
Lcmt1 |
T |
A |
7: 123,010,035 (GRCm39) |
C183* |
probably null |
Het |
Lcn5 |
A |
G |
2: 25,548,075 (GRCm39) |
E28G |
possibly damaging |
Het |
Leo1 |
A |
T |
9: 75,352,979 (GRCm39) |
D174V |
probably damaging |
Het |
Llgl1 |
A |
T |
11: 60,600,811 (GRCm39) |
T636S |
probably damaging |
Het |
Lrrc8e |
T |
A |
8: 4,283,981 (GRCm39) |
C69S |
probably damaging |
Het |
Maml3 |
A |
T |
3: 51,703,891 (GRCm39) |
|
probably benign |
Het |
Maz |
G |
T |
7: 126,624,519 (GRCm39) |
H334N |
possibly damaging |
Het |
Mcm6 |
T |
C |
1: 128,279,285 (GRCm39) |
D167G |
probably benign |
Het |
Mrpl24 |
A |
C |
3: 87,829,436 (GRCm39) |
|
probably null |
Het |
Myo18a |
G |
A |
11: 77,714,962 (GRCm39) |
V834M |
probably damaging |
Het |
Neb |
T |
A |
2: 52,198,362 (GRCm39) |
R461* |
probably null |
Het |
Notch4 |
C |
A |
17: 34,789,159 (GRCm39) |
T486N |
probably damaging |
Het |
Nphp3 |
A |
G |
9: 103,880,257 (GRCm39) |
E93G |
probably damaging |
Het |
Nup188 |
A |
G |
2: 30,219,358 (GRCm39) |
Y858C |
probably damaging |
Het |
Or13a17 |
T |
A |
7: 140,271,291 (GRCm39) |
S158T |
probably benign |
Het |
Or13a28 |
C |
T |
7: 140,218,297 (GRCm39) |
R228C |
probably benign |
Het |
Or1j11 |
T |
A |
2: 36,311,869 (GRCm39) |
L153* |
probably null |
Het |
Otud4 |
T |
A |
8: 80,366,597 (GRCm39) |
D21E |
possibly damaging |
Het |
Ovgp1 |
T |
A |
3: 105,887,639 (GRCm39) |
|
probably null |
Het |
Pdia3 |
A |
T |
2: 121,244,620 (GRCm39) |
N11I |
possibly damaging |
Het |
Pex5 |
T |
C |
6: 124,380,079 (GRCm39) |
D286G |
possibly damaging |
Het |
Pias3 |
T |
C |
3: 96,607,136 (GRCm39) |
I133T |
probably damaging |
Het |
Postn |
A |
G |
3: 54,279,578 (GRCm39) |
D352G |
probably damaging |
Het |
Prl7c1 |
T |
C |
13: 27,962,065 (GRCm39) |
R81G |
probably benign |
Het |
Rmi1 |
A |
G |
13: 58,556,950 (GRCm39) |
R400G |
probably benign |
Het |
Rtraf |
T |
A |
14: 19,867,155 (GRCm39) |
N116I |
probably benign |
Het |
Semp2l2a |
T |
A |
8: 13,886,625 (GRCm39) |
R489W |
probably damaging |
Het |
Slc6a12 |
T |
A |
6: 121,328,951 (GRCm39) |
C50* |
probably null |
Het |
Spring1 |
G |
C |
5: 118,397,479 (GRCm39) |
A154P |
probably damaging |
Het |
Srcin1 |
T |
A |
11: 97,439,752 (GRCm39) |
H126L |
probably benign |
Het |
Tmtc2 |
A |
T |
10: 105,139,511 (GRCm39) |
S672T |
probably benign |
Het |
Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
Ube2c |
A |
G |
2: 164,614,093 (GRCm39) |
N143S |
possibly damaging |
Het |
Uroc1 |
A |
T |
6: 90,332,310 (GRCm39) |
I556F |
probably damaging |
Het |
Vmn1r124 |
T |
A |
7: 20,994,302 (GRCm39) |
K81* |
probably null |
Het |
Vmn1r57 |
T |
A |
7: 5,223,972 (GRCm39) |
C166S |
probably damaging |
Het |
Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
Vmn2r68 |
A |
G |
7: 84,883,673 (GRCm39) |
V144A |
probably benign |
Het |
Vmn2r85 |
C |
T |
10: 130,261,235 (GRCm39) |
M367I |
probably benign |
Het |
Vwa3a |
T |
A |
7: 120,392,598 (GRCm39) |
N812K |
probably benign |
Het |
Wdfy4 |
A |
T |
14: 32,824,515 (GRCm39) |
N1301K |
probably damaging |
Het |
Zfhx4 |
G |
A |
3: 5,468,536 (GRCm39) |
R2898H |
probably damaging |
Het |
|
Other mutations in Iqgap2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00799:Iqgap2
|
APN |
13 |
95,794,452 (GRCm39) |
splice site |
probably benign |
|
IGL01968:Iqgap2
|
APN |
13 |
95,772,090 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL02049:Iqgap2
|
APN |
13 |
95,811,913 (GRCm39) |
splice site |
probably benign |
|
IGL02195:Iqgap2
|
APN |
13 |
95,798,242 (GRCm39) |
splice site |
probably benign |
|
IGL02387:Iqgap2
|
APN |
13 |
95,826,209 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02634:Iqgap2
|
APN |
13 |
95,764,622 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02666:Iqgap2
|
APN |
13 |
95,764,564 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02685:Iqgap2
|
APN |
13 |
95,807,912 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02927:Iqgap2
|
APN |
13 |
95,861,184 (GRCm39) |
missense |
possibly damaging |
0.62 |
IGL02943:Iqgap2
|
APN |
13 |
95,798,243 (GRCm39) |
splice site |
probably benign |
|
IGL03167:Iqgap2
|
APN |
13 |
95,821,406 (GRCm39) |
missense |
probably benign |
0.34 |
IGL03169:Iqgap2
|
APN |
13 |
95,867,785 (GRCm39) |
splice site |
probably null |
|
IGL03293:Iqgap2
|
APN |
13 |
95,867,942 (GRCm39) |
missense |
probably damaging |
1.00 |
G1Funyon:Iqgap2
|
UTSW |
13 |
95,818,659 (GRCm39) |
critical splice donor site |
probably null |
|
R0257:Iqgap2
|
UTSW |
13 |
95,861,052 (GRCm39) |
critical splice donor site |
probably null |
|
R0335:Iqgap2
|
UTSW |
13 |
95,772,141 (GRCm39) |
missense |
probably damaging |
0.99 |
R0360:Iqgap2
|
UTSW |
13 |
95,867,783 (GRCm39) |
splice site |
probably benign |
|
R0364:Iqgap2
|
UTSW |
13 |
95,867,783 (GRCm39) |
splice site |
probably benign |
|
R0419:Iqgap2
|
UTSW |
13 |
95,826,207 (GRCm39) |
critical splice donor site |
probably null |
|
R1229:Iqgap2
|
UTSW |
13 |
95,768,673 (GRCm39) |
missense |
probably benign |
0.32 |
R1290:Iqgap2
|
UTSW |
13 |
95,805,021 (GRCm39) |
missense |
probably damaging |
1.00 |
R1397:Iqgap2
|
UTSW |
13 |
95,768,673 (GRCm39) |
missense |
probably benign |
0.32 |
R1498:Iqgap2
|
UTSW |
13 |
95,783,313 (GRCm39) |
missense |
probably benign |
|
R1513:Iqgap2
|
UTSW |
13 |
95,766,518 (GRCm39) |
missense |
probably damaging |
1.00 |
R1630:Iqgap2
|
UTSW |
13 |
95,826,293 (GRCm39) |
missense |
probably benign |
|
R2088:Iqgap2
|
UTSW |
13 |
96,028,171 (GRCm39) |
critical splice donor site |
probably null |
|
R2928:Iqgap2
|
UTSW |
13 |
95,818,744 (GRCm39) |
missense |
probably benign |
|
R3026:Iqgap2
|
UTSW |
13 |
95,809,564 (GRCm39) |
critical splice acceptor site |
probably null |
|
R3720:Iqgap2
|
UTSW |
13 |
95,805,036 (GRCm39) |
splice site |
probably null |
|
R3846:Iqgap2
|
UTSW |
13 |
95,810,186 (GRCm39) |
splice site |
probably benign |
|
R4056:Iqgap2
|
UTSW |
13 |
95,886,541 (GRCm39) |
missense |
probably damaging |
1.00 |
R4077:Iqgap2
|
UTSW |
13 |
95,794,375 (GRCm39) |
missense |
probably damaging |
1.00 |
R4353:Iqgap2
|
UTSW |
13 |
95,807,904 (GRCm39) |
missense |
probably damaging |
1.00 |
R4517:Iqgap2
|
UTSW |
13 |
95,800,569 (GRCm39) |
critical splice donor site |
probably null |
|
R4686:Iqgap2
|
UTSW |
13 |
95,858,117 (GRCm39) |
missense |
probably damaging |
0.98 |
R4724:Iqgap2
|
UTSW |
13 |
95,772,005 (GRCm39) |
missense |
possibly damaging |
0.73 |
R4826:Iqgap2
|
UTSW |
13 |
95,899,783 (GRCm39) |
missense |
probably damaging |
1.00 |
R4847:Iqgap2
|
UTSW |
13 |
95,810,251 (GRCm39) |
missense |
probably benign |
0.19 |
R4967:Iqgap2
|
UTSW |
13 |
95,766,514 (GRCm39) |
missense |
probably benign |
0.00 |
R4973:Iqgap2
|
UTSW |
13 |
95,794,305 (GRCm39) |
splice site |
probably null |
|
R5010:Iqgap2
|
UTSW |
13 |
95,810,251 (GRCm39) |
missense |
probably benign |
0.19 |
R5086:Iqgap2
|
UTSW |
13 |
95,772,088 (GRCm39) |
missense |
probably benign |
0.01 |
R5496:Iqgap2
|
UTSW |
13 |
95,766,561 (GRCm39) |
missense |
probably damaging |
1.00 |
R5512:Iqgap2
|
UTSW |
13 |
95,811,884 (GRCm39) |
nonsense |
probably null |
|
R5629:Iqgap2
|
UTSW |
13 |
95,768,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R5824:Iqgap2
|
UTSW |
13 |
95,811,880 (GRCm39) |
missense |
probably damaging |
0.99 |
R5830:Iqgap2
|
UTSW |
13 |
95,811,880 (GRCm39) |
missense |
probably damaging |
0.99 |
R5831:Iqgap2
|
UTSW |
13 |
95,811,880 (GRCm39) |
missense |
probably damaging |
0.99 |
R5832:Iqgap2
|
UTSW |
13 |
95,811,880 (GRCm39) |
missense |
probably damaging |
0.99 |
R5833:Iqgap2
|
UTSW |
13 |
95,811,880 (GRCm39) |
missense |
probably damaging |
0.99 |
R5834:Iqgap2
|
UTSW |
13 |
95,811,880 (GRCm39) |
missense |
probably damaging |
0.99 |
R5852:Iqgap2
|
UTSW |
13 |
95,811,880 (GRCm39) |
missense |
probably damaging |
0.99 |
R5888:Iqgap2
|
UTSW |
13 |
95,772,118 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5889:Iqgap2
|
UTSW |
13 |
95,768,550 (GRCm39) |
missense |
probably benign |
0.00 |
R6093:Iqgap2
|
UTSW |
13 |
95,765,471 (GRCm39) |
missense |
probably damaging |
0.99 |
R6141:Iqgap2
|
UTSW |
13 |
95,858,194 (GRCm39) |
splice site |
probably null |
|
R6404:Iqgap2
|
UTSW |
13 |
95,865,985 (GRCm39) |
missense |
probably benign |
0.28 |
R6434:Iqgap2
|
UTSW |
13 |
95,819,441 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6648:Iqgap2
|
UTSW |
13 |
95,818,719 (GRCm39) |
missense |
probably benign |
0.27 |
R6658:Iqgap2
|
UTSW |
13 |
95,796,840 (GRCm39) |
missense |
probably damaging |
1.00 |
R6903:Iqgap2
|
UTSW |
13 |
95,797,565 (GRCm39) |
missense |
probably damaging |
1.00 |
R7223:Iqgap2
|
UTSW |
13 |
95,765,480 (GRCm39) |
missense |
probably damaging |
1.00 |
R7327:Iqgap2
|
UTSW |
13 |
95,772,163 (GRCm39) |
missense |
probably benign |
0.00 |
R7371:Iqgap2
|
UTSW |
13 |
95,836,846 (GRCm39) |
splice site |
probably null |
|
R7378:Iqgap2
|
UTSW |
13 |
95,869,398 (GRCm39) |
critical splice donor site |
probably null |
|
R7441:Iqgap2
|
UTSW |
13 |
95,764,584 (GRCm39) |
missense |
probably benign |
0.23 |
R7575:Iqgap2
|
UTSW |
13 |
95,798,131 (GRCm39) |
missense |
probably damaging |
0.99 |
R7671:Iqgap2
|
UTSW |
13 |
95,764,627 (GRCm39) |
missense |
probably damaging |
0.98 |
R7713:Iqgap2
|
UTSW |
13 |
95,867,952 (GRCm39) |
missense |
probably benign |
0.01 |
R7806:Iqgap2
|
UTSW |
13 |
95,818,765 (GRCm39) |
missense |
probably benign |
0.00 |
R7893:Iqgap2
|
UTSW |
13 |
95,826,217 (GRCm39) |
missense |
probably damaging |
0.96 |
R8052:Iqgap2
|
UTSW |
13 |
95,794,387 (GRCm39) |
missense |
probably damaging |
0.96 |
R8121:Iqgap2
|
UTSW |
13 |
95,861,076 (GRCm39) |
missense |
probably benign |
0.00 |
R8261:Iqgap2
|
UTSW |
13 |
95,772,078 (GRCm39) |
missense |
probably damaging |
1.00 |
R8301:Iqgap2
|
UTSW |
13 |
95,818,659 (GRCm39) |
critical splice donor site |
probably null |
|
R8369:Iqgap2
|
UTSW |
13 |
95,798,111 (GRCm39) |
missense |
probably damaging |
1.00 |
R8485:Iqgap2
|
UTSW |
13 |
95,796,659 (GRCm39) |
missense |
probably damaging |
0.99 |
R8709:Iqgap2
|
UTSW |
13 |
95,796,713 (GRCm39) |
missense |
probably damaging |
0.99 |
R8710:Iqgap2
|
UTSW |
13 |
95,796,756 (GRCm39) |
missense |
probably benign |
0.24 |
R8737:Iqgap2
|
UTSW |
13 |
95,802,258 (GRCm39) |
missense |
probably damaging |
1.00 |
R8845:Iqgap2
|
UTSW |
13 |
95,794,392 (GRCm39) |
missense |
possibly damaging |
0.60 |
R8902:Iqgap2
|
UTSW |
13 |
95,818,711 (GRCm39) |
missense |
probably benign |
0.16 |
R8957:Iqgap2
|
UTSW |
13 |
95,772,154 (GRCm39) |
missense |
probably damaging |
1.00 |
R9153:Iqgap2
|
UTSW |
13 |
95,844,547 (GRCm39) |
missense |
probably benign |
|
R9259:Iqgap2
|
UTSW |
13 |
95,766,561 (GRCm39) |
missense |
probably damaging |
1.00 |
R9290:Iqgap2
|
UTSW |
13 |
95,886,523 (GRCm39) |
missense |
probably damaging |
1.00 |
R9414:Iqgap2
|
UTSW |
13 |
95,783,349 (GRCm39) |
missense |
|
|
R9432:Iqgap2
|
UTSW |
13 |
95,774,261 (GRCm39) |
missense |
probably benign |
|
R9747:Iqgap2
|
UTSW |
13 |
95,821,505 (GRCm39) |
missense |
probably damaging |
1.00 |
X0066:Iqgap2
|
UTSW |
13 |
95,807,891 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1176:Iqgap2
|
UTSW |
13 |
95,867,951 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Predicted Primers |
PCR Primer
(F):5'- CTCAGGAATGACTTTTCAAAGACC -3'
(R):5'- ACAGTGTCTCCAGCACACAG -3'
Sequencing Primer
(F):5'- TCCTTACAGATGTATAGGCACG -3'
(R):5'- ACAGCAGAGCACTGTGC -3'
|
Posted On |
2015-10-08 |