Incidental Mutation 'R8902:Iqgap2'
| ID |
678262 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Iqgap2
|
| Ensembl Gene |
ENSMUSG00000021676 |
| Gene Name |
IQ motif containing GTPase activating protein 2 |
| Synonyms |
4933417J23Rik |
| MMRRC Submission |
068759-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8902 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
95763685-96028788 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 95818711 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 682
(A682T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067685
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068603]
|
| AlphaFold |
Q3UQ44 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068603
AA Change: A682T
PolyPhen 2
Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000067685
Gene: ENSMUSG00000021676
AA Change: A682T
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap3 |
G |
T |
4: 155,990,371 (GRCm39) |
R819L |
possibly damaging |
Het |
| App |
A |
G |
16: 84,876,767 (GRCm39) |
V208A |
unknown |
Het |
| C1qtnf7 |
G |
A |
5: 43,773,204 (GRCm39) |
E168K |
probably damaging |
Het |
| Cacna1e |
C |
T |
1: 154,349,632 (GRCm39) |
M757I |
probably benign |
Het |
| Casp1 |
A |
G |
9: 5,299,333 (GRCm39) |
T21A |
probably benign |
Het |
| Ccdc92 |
C |
T |
5: 124,912,705 (GRCm39) |
A275T |
possibly damaging |
Het |
| Ccr4 |
T |
A |
9: 114,325,620 (GRCm39) |
|
probably benign |
Het |
| Cct8l1 |
C |
T |
5: 25,722,908 (GRCm39) |
T541I |
probably benign |
Het |
| Chrng |
G |
T |
1: 87,138,397 (GRCm39) |
R396L |
possibly damaging |
Het |
| Cmip |
A |
G |
8: 118,103,925 (GRCm39) |
T50A |
probably damaging |
Het |
| Ddx21 |
C |
A |
10: 62,434,486 (GRCm39) |
S91I |
probably benign |
Het |
| Dnmbp |
A |
G |
19: 43,890,225 (GRCm39) |
L514P |
probably benign |
Het |
| Echs1 |
A |
T |
7: 139,690,499 (GRCm39) |
M191K |
probably damaging |
Het |
| Eps8 |
A |
G |
6: 137,489,175 (GRCm39) |
S408P |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,200,896 (GRCm39) |
E726G |
probably damaging |
Het |
| Fpr2 |
T |
C |
17: 18,113,190 (GRCm39) |
I62T |
probably benign |
Het |
| Gemin4 |
G |
A |
11: 76,102,848 (GRCm39) |
Q638* |
probably null |
Het |
| Glrb |
A |
T |
3: 80,769,285 (GRCm39) |
N147K |
probably damaging |
Het |
| Gm10800 |
CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA |
CAAGAAAACTGAAAATCA |
2: 98,497,361 (GRCm39) |
|
probably null |
Het |
| Gtf2i |
T |
C |
5: 134,278,720 (GRCm39) |
N637S |
probably benign |
Het |
| Hivep3 |
A |
G |
4: 119,953,937 (GRCm39) |
E751G |
possibly damaging |
Het |
| Ifnb1 |
G |
T |
4: 88,440,547 (GRCm39) |
N155K |
probably damaging |
Het |
| Igf2bp3 |
G |
T |
6: 49,065,365 (GRCm39) |
T509K |
probably damaging |
Het |
| Igsf10 |
T |
C |
3: 59,243,633 (GRCm39) |
M234V |
probably benign |
Het |
| Ireb2 |
T |
G |
9: 54,799,786 (GRCm39) |
M409R |
probably benign |
Het |
| Kat6b |
C |
T |
14: 21,719,629 (GRCm39) |
T1327I |
probably benign |
Het |
| Krtap5-5 |
A |
G |
7: 141,783,630 (GRCm39) |
S7P |
unknown |
Het |
| Lelp1 |
A |
T |
3: 92,042,978 (GRCm39) |
C24S |
unknown |
Het |
| Malrd1 |
A |
T |
2: 16,260,145 (GRCm39) |
K2122* |
probably null |
Het |
| Mei1 |
C |
A |
15: 81,954,212 (GRCm39) |
R6S |
unknown |
Het |
| Meis3 |
T |
A |
7: 15,911,887 (GRCm39) |
I119N |
probably benign |
Het |
| Mmp20 |
T |
C |
9: 7,639,288 (GRCm39) |
V152A |
probably benign |
Het |
| Muc6 |
T |
A |
7: 141,233,791 (GRCm39) |
I797F |
possibly damaging |
Het |
| Myo7a |
C |
T |
7: 97,741,820 (GRCm39) |
E439K |
probably damaging |
Het |
| Neb |
C |
A |
2: 52,133,222 (GRCm39) |
A3439S |
probably damaging |
Het |
| Nfe2l1 |
T |
A |
11: 96,708,620 (GRCm39) |
D715V |
unknown |
Het |
| Obscn |
C |
A |
11: 59,026,762 (GRCm39) |
R147L |
probably benign |
Het |
| Or14j5 |
T |
A |
17: 38,162,101 (GRCm39) |
M206K |
probably benign |
Het |
| Or2m12 |
T |
A |
16: 19,105,383 (GRCm39) |
I37F |
probably damaging |
Het |
| Or2y1b |
A |
T |
11: 49,209,206 (GRCm39) |
T278S |
probably benign |
Het |
| Or4e5 |
G |
A |
14: 52,728,010 (GRCm39) |
T137I |
probably benign |
Het |
| Or5d38 |
A |
G |
2: 87,954,778 (GRCm39) |
S184P |
probably damaging |
Het |
| Plg |
T |
A |
17: 12,629,790 (GRCm39) |
F608Y |
probably benign |
Het |
| Plppr1 |
C |
A |
4: 49,319,836 (GRCm39) |
P154Q |
probably damaging |
Het |
| Ppp2r5e |
T |
C |
12: 75,500,570 (GRCm39) |
K441R |
probably benign |
Het |
| Prkaca |
T |
C |
8: 84,703,714 (GRCm39) |
S5P |
probably benign |
Het |
| Rbl1 |
T |
C |
2: 157,041,420 (GRCm39) |
K69R |
probably benign |
Het |
| Rbpms2 |
T |
C |
9: 65,558,351 (GRCm39) |
I129T |
probably benign |
Het |
| Serpina1c |
A |
T |
12: 103,865,117 (GRCm39) |
N176K |
probably damaging |
Het |
| Sgsm3 |
C |
T |
15: 80,890,796 (GRCm39) |
H117Y |
probably damaging |
Het |
| Sphkap |
A |
T |
1: 83,256,685 (GRCm39) |
C355S |
probably benign |
Het |
| Stpg2 |
T |
A |
3: 139,004,170 (GRCm39) |
V249E |
probably damaging |
Het |
| Syt2 |
T |
C |
1: 134,675,391 (GRCm39) |
V414A |
possibly damaging |
Het |
| Tiam2 |
T |
C |
17: 3,527,471 (GRCm39) |
I1050T |
probably benign |
Het |
| Tmem131 |
A |
T |
1: 36,848,046 (GRCm39) |
I1134N |
probably damaging |
Het |
| Ttc23 |
A |
G |
7: 67,342,761 (GRCm39) |
E293G |
|
Het |
| Ttc41 |
C |
A |
10: 86,548,865 (GRCm39) |
R20S |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,571,133 (GRCm39) |
V26587M |
probably damaging |
Het |
| Ugt2a2 |
T |
C |
5: 87,608,270 (GRCm39) |
K523R |
possibly damaging |
Het |
| Unc13c |
A |
G |
9: 73,656,830 (GRCm39) |
C1124R |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,175,281 (GRCm39) |
N1126K |
probably damaging |
Het |
| Usp36 |
A |
T |
11: 118,165,840 (GRCm39) |
L326Q |
probably damaging |
Het |
| Zfp568 |
T |
C |
7: 29,713,307 (GRCm39) |
M120T |
probably benign |
Het |
| Zfp944 |
T |
C |
17: 22,558,761 (GRCm39) |
D162G |
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 |
|
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 |
|
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'- GGGGCCACAGTTAAAACACATC -3'
(R):5'- TTTCACCCGATGTGTGGAGAG -3'
Sequencing Primer
(F):5'- AGGCAGTCCCCATTTTAAAGG -3'
(R):5'- GTGGAGAGTAACCTTAAGATGTCTC -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation