Incidental Mutation 'R2088:Iqgap2'
| ID |
273624 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Iqgap2
|
| Ensembl Gene |
ENSMUSG00000021676 |
| Gene Name |
IQ motif containing GTPase activating protein 2 |
| Synonyms |
4933417J23Rik |
| MMRRC Submission |
040093-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2088 (G1)
|
| Quality Score |
29 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
95763685-96028788 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 96028171 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067685
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068603]
|
| AlphaFold |
Q3UQ44 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000068603
|
| SMART Domains |
Protein: ENSMUSP00000067685
Gene: ENSMUSG00000021676
| 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 |
|
| Meta Mutation Damage Score |
0.9499 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
97% (66/68) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankk1 |
T |
C |
9: 49,333,265 (GRCm39) |
|
probably benign |
Het |
| Ano5 |
T |
A |
7: 51,237,454 (GRCm39) |
N759K |
possibly damaging |
Het |
| Arhgef10 |
A |
G |
8: 15,033,898 (GRCm39) |
T1072A |
possibly damaging |
Het |
| BC107364 |
T |
C |
3: 96,341,745 (GRCm39) |
T93A |
unknown |
Het |
| Canx |
C |
T |
11: 50,201,217 (GRCm39) |
E97K |
possibly damaging |
Het |
| Casp8ap2 |
T |
C |
4: 32,631,126 (GRCm39) |
L62P |
probably damaging |
Het |
| Cbfa2t3 |
C |
T |
8: 123,364,725 (GRCm39) |
|
probably benign |
Het |
| Cmklr2 |
A |
T |
1: 63,222,811 (GRCm39) |
|
probably null |
Het |
| Cmya5 |
A |
T |
13: 93,229,320 (GRCm39) |
S1923T |
probably damaging |
Het |
| Cntnap1 |
T |
A |
11: 101,073,373 (GRCm39) |
I618N |
probably damaging |
Het |
| Cox17 |
C |
G |
16: 38,167,542 (GRCm39) |
P27R |
probably damaging |
Het |
| Ctnna3 |
A |
G |
10: 64,708,986 (GRCm39) |
E675G |
probably damaging |
Het |
| Cul9 |
A |
G |
17: 46,837,575 (GRCm39) |
L990P |
probably damaging |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Eif2d |
T |
C |
1: 131,092,464 (GRCm39) |
V374A |
probably damaging |
Het |
| Fhdc1 |
T |
C |
3: 84,382,033 (GRCm39) |
|
probably benign |
Het |
| Fryl |
T |
A |
5: 73,222,804 (GRCm39) |
I1926F |
probably benign |
Het |
| Galnt4 |
A |
G |
10: 98,945,046 (GRCm39) |
D257G |
probably damaging |
Het |
| Gatm |
A |
G |
2: 122,428,629 (GRCm39) |
V344A |
probably benign |
Het |
| Gli1 |
T |
G |
10: 127,167,369 (GRCm39) |
Y628S |
probably damaging |
Het |
| Gsdmc3 |
A |
C |
15: 63,732,063 (GRCm39) |
|
probably null |
Het |
| Hap1 |
T |
C |
11: 100,246,828 (GRCm39) |
T26A |
probably benign |
Het |
| Helz2 |
C |
T |
2: 180,876,895 (GRCm39) |
G1200S |
probably benign |
Het |
| Insyn1 |
T |
C |
9: 58,406,288 (GRCm39) |
F66S |
probably damaging |
Het |
| Itga3 |
T |
A |
11: 94,943,320 (GRCm39) |
I895F |
probably benign |
Het |
| Klhl33 |
A |
T |
14: 51,130,230 (GRCm39) |
C421* |
probably null |
Het |
| Klra2 |
T |
C |
6: 131,219,789 (GRCm39) |
T131A |
probably damaging |
Het |
| Krt14 |
T |
C |
11: 100,094,949 (GRCm39) |
E426G |
possibly damaging |
Het |
| Limd2 |
A |
G |
11: 106,049,568 (GRCm39) |
F107L |
probably damaging |
Het |
| Lipo4 |
A |
T |
19: 33,477,469 (GRCm39) |
N318K |
possibly damaging |
Het |
| Mab21l2 |
T |
G |
3: 86,454,316 (GRCm39) |
D228A |
probably damaging |
Het |
| Moxd2 |
G |
A |
6: 40,861,901 (GRCm39) |
H224Y |
probably damaging |
Het |
| Mpp4 |
T |
C |
1: 59,162,624 (GRCm39) |
Y521C |
possibly damaging |
Het |
| Msto1 |
C |
T |
3: 88,818,297 (GRCm39) |
A317T |
probably damaging |
Het |
| Mtmr4 |
T |
C |
11: 87,501,793 (GRCm39) |
S559P |
probably damaging |
Het |
| Muc4 |
T |
A |
16: 32,576,783 (GRCm39) |
H2094Q |
unknown |
Het |
| Ndufa11 |
C |
A |
17: 57,024,922 (GRCm39) |
T28K |
probably damaging |
Het |
| Or2b4 |
A |
G |
17: 38,116,686 (GRCm39) |
T217A |
probably benign |
Het |
| Or4f4b |
G |
T |
2: 111,314,623 (GRCm39) |
A283S |
probably damaging |
Het |
| Orai2 |
C |
A |
5: 136,179,610 (GRCm39) |
R155L |
probably damaging |
Het |
| Pde4c |
A |
G |
8: 71,202,005 (GRCm39) |
D582G |
possibly damaging |
Het |
| Pde4dip |
T |
C |
3: 97,661,749 (GRCm39) |
E609G |
probably null |
Het |
| Prune2 |
A |
G |
19: 17,097,109 (GRCm39) |
D871G |
possibly damaging |
Het |
| Rbpms2 |
T |
A |
9: 65,538,121 (GRCm39) |
L4Q |
probably damaging |
Het |
| Rhbg |
T |
C |
3: 88,154,765 (GRCm39) |
Y213C |
probably damaging |
Het |
| Rplp0 |
T |
A |
5: 115,700,562 (GRCm39) |
N243K |
possibly damaging |
Het |
| Rtp4 |
A |
T |
16: 23,431,963 (GRCm39) |
H165L |
possibly damaging |
Het |
| Ryr2 |
C |
A |
13: 11,677,115 (GRCm39) |
M3245I |
probably benign |
Het |
| Sh2b2 |
T |
A |
5: 136,260,968 (GRCm39) |
M83L |
possibly damaging |
Het |
| Simc1 |
T |
C |
13: 54,689,347 (GRCm39) |
I284T |
probably damaging |
Het |
| Skp2 |
C |
A |
15: 9,113,786 (GRCm39) |
G376C |
probably damaging |
Het |
| Slc46a1 |
T |
C |
11: 78,359,471 (GRCm39) |
S368P |
possibly damaging |
Het |
| St6galnac1 |
A |
G |
11: 116,659,933 (GRCm39) |
S127P |
probably benign |
Het |
| Tatdn3 |
A |
G |
1: 190,785,073 (GRCm39) |
I192T |
possibly damaging |
Het |
| Tmem25 |
C |
A |
9: 44,707,383 (GRCm39) |
V239F |
possibly damaging |
Het |
| Tprkb |
A |
C |
6: 85,909,922 (GRCm39) |
|
probably benign |
Het |
| Trappc10 |
A |
G |
10: 78,032,168 (GRCm39) |
V1040A |
probably benign |
Het |
| Txnrd1 |
G |
A |
10: 82,719,744 (GRCm39) |
|
probably benign |
Het |
| Uhrf1 |
A |
T |
17: 56,625,089 (GRCm39) |
K544M |
probably damaging |
Het |
| Unc80 |
T |
A |
1: 66,629,386 (GRCm39) |
H1294Q |
possibly damaging |
Het |
| Uspl1 |
T |
A |
5: 149,146,560 (GRCm39) |
I437K |
probably damaging |
Het |
| Vmn1r232 |
A |
T |
17: 21,133,999 (GRCm39) |
N200K |
possibly damaging |
Het |
| Vmn2r19 |
A |
T |
6: 123,312,795 (GRCm39) |
I622F |
probably damaging |
Het |
| Znfx1 |
A |
G |
2: 166,897,730 (GRCm39) |
F398S |
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 |
|
|
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 |
|
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'- CTGGAAGCTGCAATTAGGAATTTG -3'
(R):5'- AGTTCACTTTTGCCCCGGTG -3'
Sequencing Primer
(F):5'- TTTGGAAGAAAGGGGCTTGGAAATC -3'
(R):5'- TTTGCCCCGGTGTCAGC -3'
|
| Posted On |
2015-03-30 |
Incidental Mutation