Incidental Mutation 'R5834:Iqgap2'
| ID |
449493 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Iqgap2
|
| Ensembl Gene |
ENSMUSG00000021676 |
| Gene Name |
IQ motif containing GTPase activating protein 2 |
| Synonyms |
4933417J23Rik |
| MMRRC Submission |
044055-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5834 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
95763685-96028788 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 95811880 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 707
(R707H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067685
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068603]
|
| AlphaFold |
Q3UQ44 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068603
AA Change: R707H
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000067685
Gene: ENSMUSG00000021676
AA Change: R707H
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 96.7%
|
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,227,974 (GRCm39) |
|
probably null |
Het |
| Adamts20 |
A |
C |
15: 94,251,465 (GRCm39) |
S441A |
probably damaging |
Het |
| Aen |
T |
A |
7: 78,557,049 (GRCm39) |
M299K |
probably damaging |
Het |
| Akap3 |
T |
C |
6: 126,842,796 (GRCm39) |
S472P |
probably benign |
Het |
| Ank3 |
T |
G |
10: 69,658,087 (GRCm39) |
V158G |
probably damaging |
Het |
| Arfgap1 |
A |
G |
2: 180,622,955 (GRCm39) |
D324G |
probably benign |
Het |
| Aste1 |
A |
T |
9: 105,280,614 (GRCm39) |
R448S |
probably benign |
Het |
| Atp10a |
T |
A |
7: 58,308,366 (GRCm39) |
L55Q |
probably benign |
Het |
| C1qtnf9 |
G |
A |
14: 61,016,899 (GRCm39) |
G143D |
probably damaging |
Het |
| Camsap2 |
A |
G |
1: 136,208,126 (GRCm39) |
V1122A |
probably benign |
Het |
| Cbl |
T |
C |
9: 44,145,076 (GRCm39) |
H37R |
probably damaging |
Het |
| Cfap61 |
A |
C |
2: 145,971,069 (GRCm39) |
D893A |
probably benign |
Het |
| Chd2 |
T |
A |
7: 73,128,463 (GRCm39) |
I841F |
probably damaging |
Het |
| Chd9 |
A |
G |
8: 91,723,792 (GRCm39) |
T622A |
probably damaging |
Het |
| Cntnap3 |
A |
G |
13: 64,896,391 (GRCm39) |
Y1028H |
probably benign |
Het |
| Crybg2 |
A |
G |
4: 133,801,434 (GRCm39) |
T865A |
probably benign |
Het |
| Cyp2c55 |
A |
G |
19: 39,030,511 (GRCm39) |
I448V |
probably benign |
Het |
| Cyth1 |
T |
A |
11: 118,083,289 (GRCm39) |
|
probably null |
Het |
| Dcaf13 |
C |
T |
15: 39,007,037 (GRCm39) |
R324* |
probably null |
Het |
| Dhx37 |
C |
A |
5: 125,502,794 (GRCm39) |
R42L |
probably damaging |
Het |
| Dock1 |
T |
A |
7: 134,365,662 (GRCm39) |
V450E |
probably damaging |
Het |
| Ednrb |
A |
G |
14: 104,058,313 (GRCm39) |
L330P |
probably damaging |
Het |
| Eml4 |
T |
A |
17: 83,785,170 (GRCm39) |
H778Q |
probably damaging |
Het |
| Evx1 |
T |
A |
6: 52,292,975 (GRCm39) |
I227N |
probably damaging |
Het |
| G3bp1 |
T |
A |
11: 55,388,766 (GRCm39) |
V326E |
probably benign |
Het |
| Gata2 |
T |
C |
6: 88,177,729 (GRCm39) |
V253A |
probably benign |
Het |
| Gbp2 |
A |
G |
3: 142,339,138 (GRCm39) |
N397D |
probably damaging |
Het |
| Gm14401 |
C |
A |
2: 176,778,696 (GRCm39) |
H261N |
probably benign |
Het |
| Hacd4 |
A |
T |
4: 88,316,389 (GRCm39) |
H243Q |
probably benign |
Het |
| Hsd3b1 |
C |
A |
3: 98,760,255 (GRCm39) |
K245N |
possibly damaging |
Het |
| Hyls1 |
G |
A |
9: 35,472,480 (GRCm39) |
S312F |
probably benign |
Het |
| Ift27 |
A |
T |
15: 78,049,443 (GRCm39) |
C86S |
probably damaging |
Het |
| Irs3 |
T |
A |
5: 137,642,821 (GRCm39) |
S206C |
probably damaging |
Het |
| Lefty2 |
C |
T |
1: 180,720,716 (GRCm39) |
|
probably benign |
Het |
| Mark3 |
A |
G |
12: 111,590,921 (GRCm39) |
I162V |
probably damaging |
Het |
| Matcap1 |
G |
A |
8: 106,008,755 (GRCm39) |
Q421* |
probably null |
Het |
| Mefv |
A |
C |
16: 3,533,910 (GRCm39) |
D120E |
probably damaging |
Het |
| Mep1a |
G |
A |
17: 43,789,055 (GRCm39) |
H574Y |
probably benign |
Het |
| Mre11a |
A |
G |
9: 14,710,953 (GRCm39) |
I45V |
probably benign |
Het |
| Mtor |
A |
G |
4: 148,620,993 (GRCm39) |
N1797S |
possibly damaging |
Het |
| Nav1 |
A |
C |
1: 135,460,144 (GRCm39) |
M393R |
probably benign |
Het |
| Nod2 |
T |
C |
8: 89,391,267 (GRCm39) |
S510P |
possibly damaging |
Het |
| Nos2 |
C |
T |
11: 78,819,405 (GRCm39) |
T39I |
probably benign |
Het |
| Or2h1b |
A |
T |
17: 37,462,690 (GRCm39) |
Y58N |
probably damaging |
Het |
| Or5p54 |
T |
A |
7: 107,554,113 (GRCm39) |
H88Q |
probably benign |
Het |
| Pcdh7 |
A |
G |
5: 57,878,970 (GRCm39) |
S842G |
possibly damaging |
Het |
| Pcdha11 |
T |
C |
18: 37,145,676 (GRCm39) |
V589A |
probably damaging |
Het |
| Plaa |
A |
C |
4: 94,471,706 (GRCm39) |
V10G |
probably damaging |
Het |
| Pprc1 |
T |
A |
19: 46,053,659 (GRCm39) |
|
probably benign |
Het |
| Ptprt |
T |
C |
2: 161,402,189 (GRCm39) |
Y994C |
probably damaging |
Het |
| Ripply2 |
T |
A |
9: 86,897,943 (GRCm39) |
W37R |
probably damaging |
Het |
| Rpgrip1 |
A |
G |
14: 52,395,839 (GRCm39) |
D1227G |
probably damaging |
Het |
| Scoc |
C |
T |
8: 84,164,260 (GRCm39) |
D10N |
possibly damaging |
Het |
| Sdk2 |
A |
T |
11: 113,745,099 (GRCm39) |
I732N |
probably damaging |
Het |
| Six2 |
T |
C |
17: 85,995,092 (GRCm39) |
K97E |
probably damaging |
Het |
| Slit2 |
A |
C |
5: 48,416,989 (GRCm39) |
N1014H |
probably damaging |
Het |
| Smc1b |
A |
C |
15: 84,973,866 (GRCm39) |
L930R |
probably damaging |
Het |
| Spag16 |
T |
A |
1: 69,962,873 (GRCm39) |
M340K |
probably benign |
Het |
| Spata31 |
C |
T |
13: 65,070,480 (GRCm39) |
S876L |
probably benign |
Het |
| Spen |
A |
G |
4: 141,199,154 (GRCm39) |
Y3135H |
possibly damaging |
Het |
| Spta1 |
A |
T |
1: 174,012,363 (GRCm39) |
|
probably null |
Het |
| Stk3 |
G |
A |
15: 34,959,164 (GRCm39) |
T336I |
probably damaging |
Het |
| Tas2r118 |
T |
A |
6: 23,969,876 (GRCm39) |
T62S |
probably benign |
Het |
| Tmprss11d |
A |
G |
5: 86,454,169 (GRCm39) |
M212T |
probably damaging |
Het |
| Trpc7 |
A |
G |
13: 56,923,971 (GRCm39) |
L738P |
probably damaging |
Het |
| Ttll8 |
A |
G |
15: 88,801,449 (GRCm39) |
V413A |
possibly damaging |
Het |
| Usb1 |
G |
A |
8: 96,060,161 (GRCm39) |
|
probably benign |
Het |
| Vmn1r238 |
T |
C |
18: 3,123,168 (GRCm39) |
E82G |
probably benign |
Het |
| Vmn2r114 |
T |
C |
17: 23,529,599 (GRCm39) |
T168A |
possibly damaging |
Het |
| Vmn2r60 |
C |
A |
7: 41,765,932 (GRCm39) |
P13H |
probably benign |
Het |
| Wdr26 |
A |
G |
1: 181,030,712 (GRCm39) |
L194P |
probably damaging |
Het |
| Zfhx2 |
G |
A |
14: 55,310,787 (GRCm39) |
Q636* |
probably null |
Het |
| Zfyve26 |
A |
G |
12: 79,313,311 (GRCm39) |
Y25H |
probably benign |
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 |
|
|
R4628:Iqgap2
|
UTSW |
13 |
95,899,837 (GRCm39) |
missense |
probably benign |
0.17 |
|
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 |
|
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'- ACTTGTAGATGTTCCAGTCCCAGG -3'
(R):5'- TGGCCATTGGGTTCCATTTC -3'
Sequencing Primer
(F):5'- GTCCCAGGACTAACTTGTAAGGCTC -3'
(R):5'- ATTGGGTTCCATTTCTGCCTG -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation