Incidental Mutation 'R9290:Iqgap2'
| ID |
704234 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Iqgap2
|
| Ensembl Gene |
ENSMUSG00000021676 |
| Gene Name |
IQ motif containing GTPase activating protein 2 |
| Synonyms |
4933417J23Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9290 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
95763685-96028788 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 95886523 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 120
(M120K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067685
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068603]
|
| AlphaFold |
Q3UQ44 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068603
AA Change: M120K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000067685
Gene: ENSMUSG00000021676
AA Change: M120K
| 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: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
99% (67/68) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl2 |
A |
G |
1: 156,457,538 (GRCm39) |
K268R |
probably damaging |
Het |
| Acvr1 |
T |
C |
2: 58,338,330 (GRCm39) |
D464G |
probably damaging |
Het |
| Adra1d |
G |
T |
2: 131,403,898 (GRCm39) |
T64K |
probably benign |
Het |
| Cct3 |
T |
C |
3: 88,216,536 (GRCm39) |
V164A |
probably benign |
Het |
| Cdhr2 |
T |
C |
13: 54,882,009 (GRCm39) |
V1153A |
possibly damaging |
Het |
| Cdkn2c |
A |
C |
4: 109,518,512 (GRCm39) |
Y147* |
probably null |
Het |
| Ces1g |
A |
T |
8: 94,029,545 (GRCm39) |
H562Q |
probably benign |
Het |
| Cfap221 |
A |
G |
1: 119,853,381 (GRCm39) |
L771P |
probably benign |
Het |
| Chsy3 |
A |
G |
18: 59,542,928 (GRCm39) |
M689V |
probably benign |
Het |
| Ciita |
T |
A |
16: 10,326,513 (GRCm39) |
S235T |
probably damaging |
Het |
| Cracdl |
T |
A |
1: 37,663,634 (GRCm39) |
R755W |
probably damaging |
Het |
| Dcdc2a |
A |
G |
13: 25,386,313 (GRCm39) |
K396E |
probably benign |
Het |
| Dgki |
C |
T |
6: 37,276,780 (GRCm39) |
C35Y |
unknown |
Het |
| Dnah11 |
C |
T |
12: 117,991,251 (GRCm39) |
E2372K |
probably damaging |
Het |
| Dnai7 |
T |
C |
6: 145,148,688 (GRCm39) |
E57G |
unknown |
Het |
| Eif3a |
A |
G |
19: 60,765,221 (GRCm39) |
V322A |
probably damaging |
Het |
| Foxp2 |
A |
T |
6: 15,197,120 (GRCm39) |
Q54L |
possibly damaging |
Het |
| Garin2 |
T |
A |
12: 78,759,028 (GRCm39) |
V116E |
possibly damaging |
Het |
| Gm19410 |
T |
A |
8: 36,269,386 (GRCm39) |
C1074S |
probably damaging |
Het |
| Gtf3c3 |
T |
G |
1: 54,477,997 (GRCm39) |
E26A |
possibly damaging |
Het |
| Hps5 |
T |
C |
7: 46,424,331 (GRCm39) |
E514G |
probably damaging |
Het |
| Ide |
A |
T |
19: 37,302,647 (GRCm39) |
D154E |
|
Het |
| Insm1 |
T |
C |
2: 146,065,273 (GRCm39) |
V363A |
probably benign |
Het |
| Kcnh5 |
T |
A |
12: 75,023,488 (GRCm39) |
I527F |
probably benign |
Het |
| Lrtm2 |
A |
G |
6: 119,297,792 (GRCm39) |
L83P |
probably damaging |
Het |
| Map1a |
A |
G |
2: 121,131,014 (GRCm39) |
E372G |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,425,960 (GRCm39) |
H2421Q |
probably damaging |
Het |
| Myh15 |
A |
G |
16: 48,997,375 (GRCm39) |
E1731G |
probably damaging |
Het |
| Myt1 |
A |
T |
2: 181,437,667 (GRCm39) |
H168L |
probably benign |
Het |
| Nxph4 |
A |
T |
10: 127,362,546 (GRCm39) |
V115E |
probably damaging |
Het |
| Ofcc1 |
A |
T |
13: 40,433,802 (GRCm39) |
I101N |
possibly damaging |
Het |
| Oog2 |
T |
C |
4: 143,923,015 (GRCm39) |
F427L |
probably benign |
Het |
| Or4c115 |
A |
G |
2: 88,928,076 (GRCm39) |
L65P |
probably damaging |
Het |
| Or4f14b |
A |
T |
2: 111,774,967 (GRCm39) |
I278N |
possibly damaging |
Het |
| Or5w11 |
A |
G |
2: 87,459,209 (GRCm39) |
N18S |
probably benign |
Het |
| Or8b48 |
T |
C |
9: 38,493,334 (GRCm39) |
S254P |
probably damaging |
Het |
| Or8g27 |
A |
G |
9: 39,129,531 (GRCm39) |
R293G |
probably damaging |
Het |
| Otop1 |
T |
G |
5: 38,455,302 (GRCm39) |
I232S |
probably benign |
Het |
| Pak6 |
G |
A |
2: 118,523,883 (GRCm39) |
R346Q |
probably damaging |
Het |
| Pbk |
A |
T |
14: 66,054,713 (GRCm39) |
M282L |
probably benign |
Het |
| Pmpcb |
T |
C |
5: 21,944,009 (GRCm39) |
|
probably null |
Het |
| Pou5f2 |
T |
A |
13: 78,173,585 (GRCm39) |
W176R |
probably damaging |
Het |
| Prkra |
G |
T |
2: 76,478,147 (GRCm39) |
S18R |
probably benign |
Het |
| Prune2 |
G |
T |
19: 17,145,691 (GRCm39) |
A2764S |
probably benign |
Het |
| Ptpdc1 |
A |
T |
13: 48,740,221 (GRCm39) |
D403E |
probably benign |
Het |
| Pxylp1 |
T |
C |
9: 96,722,089 (GRCm39) |
E54G |
probably damaging |
Het |
| Rap1gap |
G |
A |
4: 137,446,222 (GRCm39) |
A325T |
probably damaging |
Het |
| Raver2 |
G |
A |
4: 100,977,387 (GRCm39) |
|
probably benign |
Het |
| Rbpj |
T |
C |
5: 53,810,745 (GRCm39) |
V455A |
probably damaging |
Het |
| Rptor |
A |
T |
11: 119,702,823 (GRCm39) |
I397F |
probably benign |
Het |
| Sacs |
G |
A |
14: 61,421,499 (GRCm39) |
M148I |
probably benign |
Het |
| Sec16b |
A |
G |
1: 157,373,816 (GRCm39) |
Q496R |
probably damaging |
Het |
| Sned1 |
C |
A |
1: 93,199,385 (GRCm39) |
C488* |
probably null |
Het |
| Snupn |
G |
T |
9: 56,882,547 (GRCm39) |
V187F |
possibly damaging |
Het |
| Sorcs2 |
T |
C |
5: 36,183,225 (GRCm39) |
D1016G |
probably damaging |
Het |
| Spta1 |
T |
C |
1: 174,045,204 (GRCm39) |
M1517T |
possibly damaging |
Het |
| Them4 |
G |
T |
3: 94,231,630 (GRCm39) |
G156C |
probably damaging |
Het |
| Tnik |
T |
C |
3: 28,675,124 (GRCm39) |
S721P |
probably benign |
Het |
| Trpm8 |
T |
C |
1: 88,246,767 (GRCm39) |
S26P |
probably damaging |
Het |
| Ube2e3 |
A |
G |
2: 78,750,324 (GRCm39) |
I183M |
probably damaging |
Het |
| Uhrf2 |
A |
G |
19: 30,055,416 (GRCm39) |
Y389C |
probably damaging |
Het |
| Utp4 |
T |
A |
8: 107,642,828 (GRCm39) |
D495E |
possibly damaging |
Het |
| Vill |
C |
A |
9: 118,890,562 (GRCm39) |
N158K |
probably benign |
Het |
| Vmn1r219 |
G |
A |
13: 23,347,399 (GRCm39) |
G196E |
probably damaging |
Het |
| Vmn2r101 |
C |
T |
17: 19,811,395 (GRCm39) |
S493L |
probably benign |
Het |
| Vmn2r61 |
A |
G |
7: 41,915,385 (GRCm39) |
T111A |
probably benign |
Het |
| Zbtb40 |
G |
T |
4: 136,745,529 (GRCm39) |
A168E |
probably benign |
Het |
| Zscan18 |
A |
T |
7: 12,508,054 (GRCm39) |
I482N |
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 |
|
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 |
|
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'- TGAAGCCGGTTCTACCCTTG -3'
(R):5'- TATGAGCAACAATGGCTGCTC -3'
Sequencing Primer
(F):5'- ACACTTTCAATCGTGTGTTTTGTAGC -3'
(R):5'- TGGCTGCTCTTGAAAAAGCAC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation