Incidental Mutation 'R8957:Iqgap2'
| ID |
682119 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Iqgap2
|
| Ensembl Gene |
ENSMUSG00000021676 |
| Gene Name |
IQ motif containing GTPase activating protein 2 |
| Synonyms |
4933417J23Rik |
| MMRRC Submission |
068793-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8957 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
95763685-96028788 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 95772154 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 1342
(R1342C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067685
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068603]
|
| AlphaFold |
Q3UQ44 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068603
AA Change: R1342C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000067685
Gene: ENSMUSG00000021676
AA Change: R1342C
| 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: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (66/66) |
| 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 |
|---|
| 1500011B03Rik |
A |
G |
5: 114,951,891 (GRCm39) |
V28A |
probably benign |
Het |
| Abca12 |
T |
A |
1: 71,360,784 (GRCm39) |
D503V |
possibly damaging |
Het |
| Aco2 |
A |
T |
15: 81,773,701 (GRCm39) |
|
probably benign |
Het |
| Aff1 |
A |
G |
5: 103,981,634 (GRCm39) |
Q591R |
possibly damaging |
Het |
| Ankle2 |
G |
A |
5: 110,379,121 (GRCm39) |
A7T |
possibly damaging |
Het |
| Ankrd12 |
T |
C |
17: 66,291,491 (GRCm39) |
N1314S |
probably benign |
Het |
| Apeh |
A |
T |
9: 107,969,572 (GRCm39) |
M216K |
probably benign |
Het |
| Armh1 |
T |
C |
4: 117,087,104 (GRCm39) |
Y187C |
probably damaging |
Het |
| Ascc3 |
C |
A |
10: 50,576,208 (GRCm39) |
A821E |
probably damaging |
Het |
| Atf7ip |
A |
G |
6: 136,543,701 (GRCm39) |
D650G |
probably null |
Het |
| Cav1 |
T |
A |
6: 17,339,235 (GRCm39) |
F107I |
probably benign |
Het |
| Ccdc146 |
A |
G |
5: 21,514,585 (GRCm39) |
|
probably benign |
Het |
| Ccdc57 |
A |
G |
11: 120,776,861 (GRCm39) |
I513T |
probably benign |
Het |
| Ccrl2 |
T |
C |
9: 110,884,557 (GRCm39) |
R314G |
probably benign |
Het |
| Cd1d1 |
T |
C |
3: 86,906,140 (GRCm39) |
D45G |
probably damaging |
Het |
| Cfap74 |
G |
A |
4: 155,521,187 (GRCm39) |
E620K |
|
Het |
| Col4a1 |
T |
A |
8: 11,295,906 (GRCm39) |
|
probably benign |
Het |
| Cux2 |
C |
T |
5: 121,999,011 (GRCm39) |
G1310R |
probably benign |
Het |
| Cyld |
G |
T |
8: 89,432,410 (GRCm39) |
R136L |
probably damaging |
Het |
| Cyp4v3 |
A |
T |
8: 45,760,018 (GRCm39) |
N511K |
probably benign |
Het |
| Dchs2 |
G |
A |
3: 83,189,573 (GRCm39) |
V1646M |
|
Het |
| Des |
A |
T |
1: 75,340,295 (GRCm39) |
I401F |
probably damaging |
Het |
| Dis3 |
T |
C |
14: 99,337,027 (GRCm39) |
D28G |
probably damaging |
Het |
| Dnai4 |
T |
C |
4: 102,953,950 (GRCm39) |
D83G |
probably damaging |
Het |
| Ehd1 |
A |
G |
19: 6,344,439 (GRCm39) |
Y233C |
probably damaging |
Het |
| Fcrlb |
G |
A |
1: 170,735,536 (GRCm39) |
A246V |
probably benign |
Het |
| Firrm |
C |
T |
1: 163,792,335 (GRCm39) |
R554H |
probably damaging |
Het |
| Fnta |
T |
C |
8: 26,489,541 (GRCm39) |
R357G |
probably benign |
Het |
| Fpgs |
T |
C |
2: 32,575,354 (GRCm39) |
D420G |
probably damaging |
Het |
| Hdac4 |
T |
C |
1: 91,873,757 (GRCm39) |
|
probably null |
Het |
| Hdhd5 |
C |
T |
6: 120,495,404 (GRCm39) |
|
probably null |
Het |
| Isyna1 |
T |
G |
8: 71,049,372 (GRCm39) |
L428R |
probably damaging |
Het |
| Jmjd4 |
C |
T |
11: 59,340,884 (GRCm39) |
|
probably benign |
Het |
| Klra1 |
A |
G |
6: 130,357,609 (GRCm39) |
V6A |
possibly damaging |
Het |
| Klrb1b |
T |
A |
6: 128,795,522 (GRCm39) |
K124N |
probably benign |
Het |
| Krtap19-3 |
T |
C |
16: 88,674,833 (GRCm39) |
|
probably benign |
Het |
| Lrrc74b |
T |
C |
16: 17,378,976 (GRCm39) |
T34A |
probably benign |
Het |
| Map9 |
A |
G |
3: 82,278,687 (GRCm39) |
Y229C |
probably benign |
Het |
| Mmp28 |
T |
C |
11: 83,334,636 (GRCm39) |
I373V |
possibly damaging |
Het |
| Mpdz |
A |
T |
4: 81,251,216 (GRCm39) |
Y1086* |
probably null |
Het |
| Myct1 |
C |
T |
10: 5,554,208 (GRCm39) |
T25I |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,141,780 (GRCm39) |
K880E |
possibly damaging |
Het |
| Nav2 |
T |
G |
7: 49,220,964 (GRCm39) |
V1656G |
probably damaging |
Het |
| Or12d13 |
A |
G |
17: 37,647,382 (GRCm39) |
V247A |
probably damaging |
Het |
| Or1a1 |
T |
A |
11: 74,086,772 (GRCm39) |
S148T |
probably damaging |
Het |
| Or5b101 |
T |
A |
19: 13,004,881 (GRCm39) |
I271F |
probably benign |
Het |
| Pate2 |
T |
C |
9: 35,596,911 (GRCm39) |
W100R |
probably benign |
Het |
| Pcdhb11 |
A |
C |
18: 37,554,692 (GRCm39) |
K7N |
probably benign |
Het |
| Pcdhb11 |
A |
G |
18: 37,555,872 (GRCm39) |
T401A |
probably benign |
Het |
| Pgam1 |
T |
A |
19: 41,905,215 (GRCm39) |
I183N |
possibly damaging |
Het |
| Pou5f1 |
T |
G |
17: 35,821,366 (GRCm39) |
L326R |
possibly damaging |
Het |
| Rbm34 |
A |
C |
8: 127,692,208 (GRCm39) |
V178G |
probably benign |
Het |
| Rc3h2 |
A |
G |
2: 37,289,660 (GRCm39) |
V384A |
possibly damaging |
Het |
| Sec62 |
T |
A |
3: 30,864,671 (GRCm39) |
F178L |
unknown |
Het |
| Slco1a6 |
T |
C |
6: 142,091,493 (GRCm39) |
N69S |
probably damaging |
Het |
| Smok2b |
T |
A |
17: 13,453,873 (GRCm39) |
L11Q |
probably damaging |
Het |
| Snai2 |
T |
C |
16: 14,526,113 (GRCm39) |
S255P |
probably damaging |
Het |
| Spata31h1 |
A |
G |
10: 82,124,908 (GRCm39) |
Y2701H |
probably benign |
Het |
| Tesk2 |
T |
A |
4: 116,659,910 (GRCm39) |
F343I |
probably benign |
Het |
| Tmem106c |
A |
T |
15: 97,867,481 (GRCm39) |
I222F |
probably benign |
Het |
| Tmub1 |
G |
T |
5: 24,651,775 (GRCm39) |
T63K |
probably benign |
Het |
| Tnip3 |
A |
G |
6: 65,582,843 (GRCm39) |
T217A |
probably benign |
Het |
| Vmn2r10 |
T |
G |
5: 109,149,780 (GRCm39) |
K421N |
possibly damaging |
Het |
| Zfp975 |
A |
T |
7: 42,311,157 (GRCm39) |
H485Q |
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 |
|
|
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 |
|
R8902:Iqgap2
|
UTSW |
13 |
95,818,711 (GRCm39) |
missense |
probably benign |
0.16 |
|
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'- ACACCTTGGCAATCTCGTTG -3'
(R):5'- AACTTTGGCCAAATTAGGTCCAG -3'
Sequencing Primer
(F):5'- CACCTTGGCAATCTCGTTGAGAATG -3'
(R):5'- GGCCAAATTAGGTCCAGTATTACATC -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation