Incidental Mutation 'R5932:Dennd2b'
ID |
461931 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dennd2b
|
Ensembl Gene |
ENSMUSG00000031024 |
Gene Name |
DENN domain containing 2B |
Synonyms |
Denn2b, 2610305K15Rik, St5, 2010004M01Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.390)
|
Stock # |
R5932 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
109123118-109302812 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 109169223 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 24
(T24M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146747
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077909]
[ENSMUST00000079282]
[ENSMUST00000084738]
[ENSMUST00000168005]
[ENSMUST00000207394]
[ENSMUST00000207745]
[ENSMUST00000208583]
[ENSMUST00000208734]
|
AlphaFold |
Q924W7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000077909
AA Change: T24M
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000077067 Gene: ENSMUSG00000031024 AA Change: T24M
Domain | Start | End | E-Value | Type |
low complexity region
|
28 |
46 |
N/A |
INTRINSIC |
low complexity region
|
197 |
213 |
N/A |
INTRINSIC |
low complexity region
|
314 |
326 |
N/A |
INTRINSIC |
low complexity region
|
327 |
348 |
N/A |
INTRINSIC |
low complexity region
|
365 |
379 |
N/A |
INTRINSIC |
low complexity region
|
407 |
426 |
N/A |
INTRINSIC |
low complexity region
|
577 |
609 |
N/A |
INTRINSIC |
low complexity region
|
624 |
638 |
N/A |
INTRINSIC |
low complexity region
|
645 |
656 |
N/A |
INTRINSIC |
uDENN
|
690 |
781 |
1.16e-30 |
SMART |
DENN
|
788 |
972 |
7.84e-78 |
SMART |
low complexity region
|
1007 |
1014 |
N/A |
INTRINSIC |
dDENN
|
1019 |
1086 |
3.12e-22 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000079282
AA Change: T24M
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000078264 Gene: ENSMUSG00000031024 AA Change: T24M
Domain | Start | End | E-Value | Type |
low complexity region
|
28 |
46 |
N/A |
INTRINSIC |
low complexity region
|
197 |
213 |
N/A |
INTRINSIC |
low complexity region
|
314 |
326 |
N/A |
INTRINSIC |
low complexity region
|
327 |
348 |
N/A |
INTRINSIC |
low complexity region
|
365 |
379 |
N/A |
INTRINSIC |
low complexity region
|
407 |
426 |
N/A |
INTRINSIC |
low complexity region
|
577 |
609 |
N/A |
INTRINSIC |
low complexity region
|
624 |
638 |
N/A |
INTRINSIC |
low complexity region
|
645 |
656 |
N/A |
INTRINSIC |
uDENN
|
690 |
781 |
1.16e-30 |
SMART |
DENN
|
788 |
972 |
7.84e-78 |
SMART |
low complexity region
|
1007 |
1014 |
N/A |
INTRINSIC |
dDENN
|
1019 |
1086 |
3.12e-22 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000084738
AA Change: T24M
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000081789 Gene: ENSMUSG00000031024 AA Change: T24M
Domain | Start | End | E-Value | Type |
low complexity region
|
160 |
192 |
N/A |
INTRINSIC |
low complexity region
|
207 |
221 |
N/A |
INTRINSIC |
low complexity region
|
228 |
239 |
N/A |
INTRINSIC |
uDENN
|
273 |
364 |
1.16e-30 |
SMART |
DENN
|
371 |
555 |
7.84e-78 |
SMART |
low complexity region
|
590 |
597 |
N/A |
INTRINSIC |
dDENN
|
602 |
669 |
3.12e-22 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000168005
AA Change: T24M
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000130119 Gene: ENSMUSG00000031024 AA Change: T24M
Domain | Start | End | E-Value | Type |
low complexity region
|
160 |
192 |
N/A |
INTRINSIC |
low complexity region
|
207 |
221 |
N/A |
INTRINSIC |
low complexity region
|
228 |
239 |
N/A |
INTRINSIC |
uDENN
|
273 |
364 |
1.16e-30 |
SMART |
DENN
|
371 |
555 |
7.84e-78 |
SMART |
low complexity region
|
590 |
597 |
N/A |
INTRINSIC |
dDENN
|
602 |
669 |
3.12e-22 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000207394
AA Change: T24M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000207745
AA Change: T24M
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208557
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000208583
AA Change: T24M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000208734
AA Change: T24M
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208981
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was identified by its ability to suppress the tumorigenicity of Hela cells in nude mice. The protein encoded by this gene contains a C-terminal region that shares similarity with the Rab 3 family of small GTP binding proteins. This protein preferentially binds to the SH3 domain of c-Abl kinase, and acts as a regulator of MAPK1/ERK2 kinase, which may contribute to its ability to reduce the tumorigenic phenotype in cells. Three alternatively spliced transcript variants of this gene encoding distinct isoforms are identified. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1cf |
T |
A |
19: 31,870,518 (GRCm39) |
S7T |
possibly damaging |
Het |
Aatk |
C |
T |
11: 119,912,359 (GRCm39) |
G29S |
probably damaging |
Het |
Akap1 |
A |
G |
11: 88,722,585 (GRCm39) |
L890P |
probably damaging |
Het |
Akap13 |
T |
A |
7: 75,259,932 (GRCm39) |
M49K |
probably damaging |
Het |
Ankrd17 |
A |
T |
5: 90,413,295 (GRCm39) |
N1206K |
probably damaging |
Het |
Bbs7 |
G |
A |
3: 36,636,847 (GRCm39) |
T480I |
probably benign |
Het |
Bbs9 |
A |
G |
9: 22,723,627 (GRCm39) |
E769G |
probably damaging |
Het |
Bpgm |
T |
A |
6: 34,464,860 (GRCm39) |
S192R |
probably damaging |
Het |
Brinp1 |
C |
A |
4: 68,711,178 (GRCm39) |
K343N |
probably benign |
Het |
Cabyr |
T |
G |
18: 12,887,407 (GRCm39) |
V185G |
probably damaging |
Het |
Cadm1 |
C |
A |
9: 47,710,749 (GRCm39) |
D217E |
probably damaging |
Het |
Camk1g |
T |
A |
1: 193,036,347 (GRCm39) |
E171V |
probably benign |
Het |
Casz1 |
T |
A |
4: 149,023,570 (GRCm39) |
M825K |
possibly damaging |
Het |
Ccdc27 |
A |
G |
4: 154,111,231 (GRCm39) |
V627A |
probably benign |
Het |
Ccdc40 |
T |
G |
11: 119,141,838 (GRCm39) |
I808R |
probably damaging |
Het |
Cdh23 |
G |
A |
10: 60,228,763 (GRCm39) |
R1140C |
probably damaging |
Het |
Celsr1 |
A |
G |
15: 85,916,905 (GRCm39) |
V356A |
probably damaging |
Het |
Cep126 |
T |
A |
9: 8,103,509 (GRCm39) |
D167V |
probably damaging |
Het |
Chmp4b |
C |
T |
2: 154,533,201 (GRCm39) |
T147I |
probably benign |
Het |
Clstn3 |
A |
T |
6: 124,415,291 (GRCm39) |
M728K |
probably benign |
Het |
Col7a1 |
A |
T |
9: 108,809,279 (GRCm39) |
E2618V |
unknown |
Het |
Cplane1 |
T |
A |
15: 8,274,079 (GRCm39) |
|
probably null |
Het |
Crls1 |
T |
A |
2: 132,706,087 (GRCm39) |
Y170* |
probably null |
Het |
Epas1 |
T |
G |
17: 87,135,074 (GRCm39) |
I569S |
possibly damaging |
Het |
Fhl3 |
T |
C |
4: 124,599,520 (GRCm39) |
Y32H |
probably damaging |
Het |
Fibp |
G |
A |
19: 5,514,453 (GRCm39) |
G333D |
probably benign |
Het |
Frmd4a |
C |
T |
2: 4,534,650 (GRCm39) |
T156I |
probably damaging |
Het |
Gcn1 |
T |
C |
5: 115,730,435 (GRCm39) |
L873P |
possibly damaging |
Het |
Gpr141b |
C |
A |
13: 19,913,646 (GRCm39) |
|
noncoding transcript |
Het |
Hectd3 |
G |
A |
4: 116,859,470 (GRCm39) |
R698H |
possibly damaging |
Het |
Il17a |
T |
C |
1: 20,803,977 (GRCm39) |
V124A |
probably damaging |
Het |
Kif14 |
A |
T |
1: 136,444,128 (GRCm39) |
E1373D |
probably benign |
Het |
Klra4 |
C |
T |
6: 130,030,016 (GRCm39) |
V190M |
possibly damaging |
Het |
Kmt2a |
T |
C |
9: 44,731,944 (GRCm39) |
|
probably benign |
Het |
L3mbtl1 |
GGCCG |
GG |
2: 162,809,256 (GRCm39) |
|
probably benign |
Het |
Lamb2 |
T |
C |
9: 108,357,810 (GRCm39) |
I111T |
probably damaging |
Het |
Lrch3 |
A |
T |
16: 32,796,106 (GRCm39) |
D204V |
probably damaging |
Het |
Mansc1 |
C |
A |
6: 134,587,478 (GRCm39) |
R233L |
possibly damaging |
Het |
Mkrn3 |
A |
G |
7: 62,068,655 (GRCm39) |
C379R |
probably damaging |
Het |
Ncoa3 |
T |
A |
2: 165,912,045 (GRCm39) |
|
probably null |
Het |
Neu3 |
A |
T |
7: 99,462,525 (GRCm39) |
C399* |
probably null |
Het |
Or10ad1 |
T |
G |
15: 98,105,296 (GRCm39) |
*323S |
probably null |
Het |
Or52e8 |
G |
A |
7: 104,624,862 (GRCm39) |
T114M |
probably damaging |
Het |
Pcare |
T |
C |
17: 72,058,748 (GRCm39) |
R310G |
probably damaging |
Het |
Pde5a |
T |
C |
3: 122,634,693 (GRCm39) |
F713L |
probably benign |
Het |
Pdk1 |
T |
A |
2: 71,713,760 (GRCm39) |
|
probably null |
Het |
Plin4 |
A |
G |
17: 56,413,356 (GRCm39) |
V423A |
possibly damaging |
Het |
Pstpip1 |
T |
A |
9: 56,033,214 (GRCm39) |
Y249N |
probably damaging |
Het |
Ptprf |
A |
T |
4: 118,068,964 (GRCm39) |
C1673S |
probably benign |
Het |
Pum1 |
A |
G |
4: 130,457,677 (GRCm39) |
T230A |
probably benign |
Het |
Qsox1 |
A |
T |
1: 155,665,079 (GRCm39) |
D287E |
probably benign |
Het |
Rad51ap2 |
A |
G |
12: 11,508,387 (GRCm39) |
N770D |
probably damaging |
Het |
Rtp3 |
T |
A |
9: 110,815,760 (GRCm39) |
I202F |
probably benign |
Het |
Slc26a4 |
C |
T |
12: 31,585,248 (GRCm39) |
|
probably null |
Het |
Spmip7 |
A |
G |
11: 11,438,513 (GRCm39) |
|
probably benign |
Het |
Sptbn1 |
C |
G |
11: 30,086,136 (GRCm39) |
V1191L |
probably damaging |
Het |
Tead2 |
T |
C |
7: 44,882,323 (GRCm39) |
Y121H |
probably benign |
Het |
Thsd7b |
T |
C |
1: 129,358,575 (GRCm39) |
L3P |
probably benign |
Het |
Trim24 |
T |
C |
6: 37,934,010 (GRCm39) |
I651T |
probably damaging |
Het |
Usp2 |
A |
G |
9: 44,003,630 (GRCm39) |
I481V |
probably benign |
Het |
Vps13d |
C |
A |
4: 144,771,611 (GRCm39) |
V4056F |
possibly damaging |
Het |
Yeats2 |
A |
G |
16: 20,011,913 (GRCm39) |
E496G |
probably benign |
Het |
Zap70 |
A |
G |
1: 36,820,227 (GRCm39) |
K503E |
probably damaging |
Het |
Zbtb46 |
A |
G |
2: 181,053,713 (GRCm39) |
L333P |
probably benign |
Het |
Zfc3h1 |
A |
T |
10: 115,236,815 (GRCm39) |
T430S |
probably benign |
Het |
Zfp618 |
C |
T |
4: 63,036,803 (GRCm39) |
R368* |
probably null |
Het |
|
Other mutations in Dennd2b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00493:Dennd2b
|
APN |
7 |
109,126,915 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL01132:Dennd2b
|
APN |
7 |
109,169,212 (GRCm39) |
splice site |
probably null |
|
IGL01288:Dennd2b
|
APN |
7 |
109,139,029 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01645:Dennd2b
|
APN |
7 |
109,126,841 (GRCm39) |
nonsense |
probably null |
|
IGL01714:Dennd2b
|
APN |
7 |
109,169,269 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02021:Dennd2b
|
APN |
7 |
109,156,579 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02302:Dennd2b
|
APN |
7 |
109,124,538 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02496:Dennd2b
|
APN |
7 |
109,155,442 (GRCm39) |
missense |
possibly damaging |
0.83 |
IGL02795:Dennd2b
|
APN |
7 |
109,155,571 (GRCm39) |
missense |
probably damaging |
1.00 |
Bucolic
|
UTSW |
7 |
109,124,755 (GRCm39) |
nonsense |
probably null |
|
Halcyon
|
UTSW |
7 |
109,156,000 (GRCm39) |
nonsense |
probably null |
|
FR4340:Dennd2b
|
UTSW |
7 |
109,156,128 (GRCm39) |
unclassified |
probably benign |
|
FR4737:Dennd2b
|
UTSW |
7 |
109,156,128 (GRCm39) |
unclassified |
probably benign |
|
PIT4466001:Dennd2b
|
UTSW |
7 |
109,130,337 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4469001:Dennd2b
|
UTSW |
7 |
109,130,337 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4472001:Dennd2b
|
UTSW |
7 |
109,130,337 (GRCm39) |
missense |
probably damaging |
1.00 |
R0024:Dennd2b
|
UTSW |
7 |
109,123,866 (GRCm39) |
missense |
probably damaging |
1.00 |
R0124:Dennd2b
|
UTSW |
7 |
109,141,718 (GRCm39) |
missense |
possibly damaging |
0.66 |
R0125:Dennd2b
|
UTSW |
7 |
109,155,545 (GRCm39) |
missense |
probably benign |
0.19 |
R0365:Dennd2b
|
UTSW |
7 |
109,138,156 (GRCm39) |
missense |
probably damaging |
1.00 |
R0491:Dennd2b
|
UTSW |
7 |
109,156,411 (GRCm39) |
missense |
probably benign |
0.45 |
R0534:Dennd2b
|
UTSW |
7 |
109,140,635 (GRCm39) |
missense |
probably damaging |
1.00 |
R0662:Dennd2b
|
UTSW |
7 |
109,156,633 (GRCm39) |
missense |
probably damaging |
1.00 |
R0743:Dennd2b
|
UTSW |
7 |
109,156,552 (GRCm39) |
missense |
probably damaging |
1.00 |
R0772:Dennd2b
|
UTSW |
7 |
109,141,527 (GRCm39) |
splice site |
probably null |
|
R0774:Dennd2b
|
UTSW |
7 |
109,141,527 (GRCm39) |
splice site |
probably null |
|
R0787:Dennd2b
|
UTSW |
7 |
109,124,827 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0884:Dennd2b
|
UTSW |
7 |
109,156,552 (GRCm39) |
missense |
probably damaging |
1.00 |
R1518:Dennd2b
|
UTSW |
7 |
109,156,562 (GRCm39) |
missense |
probably damaging |
1.00 |
R1908:Dennd2b
|
UTSW |
7 |
109,124,533 (GRCm39) |
nonsense |
probably null |
|
R1909:Dennd2b
|
UTSW |
7 |
109,124,533 (GRCm39) |
nonsense |
probably null |
|
R2232:Dennd2b
|
UTSW |
7 |
109,156,414 (GRCm39) |
missense |
probably benign |
|
R2358:Dennd2b
|
UTSW |
7 |
109,155,653 (GRCm39) |
missense |
probably benign |
0.01 |
R2847:Dennd2b
|
UTSW |
7 |
109,124,544 (GRCm39) |
missense |
probably damaging |
1.00 |
R2869:Dennd2b
|
UTSW |
7 |
109,156,637 (GRCm39) |
missense |
probably benign |
0.01 |
R2869:Dennd2b
|
UTSW |
7 |
109,156,637 (GRCm39) |
missense |
probably benign |
0.01 |
R2870:Dennd2b
|
UTSW |
7 |
109,156,637 (GRCm39) |
missense |
probably benign |
0.01 |
R2870:Dennd2b
|
UTSW |
7 |
109,156,637 (GRCm39) |
missense |
probably benign |
0.01 |
R2871:Dennd2b
|
UTSW |
7 |
109,156,637 (GRCm39) |
missense |
probably benign |
0.01 |
R2871:Dennd2b
|
UTSW |
7 |
109,156,637 (GRCm39) |
missense |
probably benign |
0.01 |
R2873:Dennd2b
|
UTSW |
7 |
109,156,637 (GRCm39) |
missense |
probably benign |
0.01 |
R2874:Dennd2b
|
UTSW |
7 |
109,156,637 (GRCm39) |
missense |
probably benign |
0.01 |
R4534:Dennd2b
|
UTSW |
7 |
109,130,363 (GRCm39) |
missense |
probably damaging |
1.00 |
R4536:Dennd2b
|
UTSW |
7 |
109,130,363 (GRCm39) |
missense |
probably damaging |
1.00 |
R4559:Dennd2b
|
UTSW |
7 |
109,124,785 (GRCm39) |
missense |
probably damaging |
1.00 |
R4798:Dennd2b
|
UTSW |
7 |
109,156,240 (GRCm39) |
missense |
probably damaging |
0.99 |
R4846:Dennd2b
|
UTSW |
7 |
109,156,043 (GRCm39) |
nonsense |
probably null |
|
R5110:Dennd2b
|
UTSW |
7 |
109,141,697 (GRCm39) |
missense |
probably benign |
0.02 |
R5181:Dennd2b
|
UTSW |
7 |
109,155,997 (GRCm39) |
missense |
probably benign |
|
R5268:Dennd2b
|
UTSW |
7 |
109,156,519 (GRCm39) |
missense |
probably benign |
|
R5403:Dennd2b
|
UTSW |
7 |
109,156,112 (GRCm39) |
missense |
probably damaging |
1.00 |
R5836:Dennd2b
|
UTSW |
7 |
109,140,552 (GRCm39) |
missense |
possibly damaging |
0.78 |
R5937:Dennd2b
|
UTSW |
7 |
109,156,478 (GRCm39) |
missense |
possibly damaging |
0.86 |
R6180:Dennd2b
|
UTSW |
7 |
109,156,095 (GRCm39) |
missense |
probably benign |
0.11 |
R6741:Dennd2b
|
UTSW |
7 |
109,144,304 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6781:Dennd2b
|
UTSW |
7 |
109,124,511 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7086:Dennd2b
|
UTSW |
7 |
109,124,781 (GRCm39) |
missense |
probably damaging |
1.00 |
R7466:Dennd2b
|
UTSW |
7 |
109,124,553 (GRCm39) |
missense |
probably damaging |
1.00 |
R7644:Dennd2b
|
UTSW |
7 |
109,156,000 (GRCm39) |
nonsense |
probably null |
|
R8354:Dennd2b
|
UTSW |
7 |
109,124,755 (GRCm39) |
nonsense |
probably null |
|
R8745:Dennd2b
|
UTSW |
7 |
109,156,279 (GRCm39) |
missense |
probably benign |
0.02 |
R8859:Dennd2b
|
UTSW |
7 |
109,123,863 (GRCm39) |
missense |
probably damaging |
1.00 |
R9016:Dennd2b
|
UTSW |
7 |
109,139,642 (GRCm39) |
missense |
possibly damaging |
0.84 |
R9178:Dennd2b
|
UTSW |
7 |
109,156,291 (GRCm39) |
missense |
probably benign |
0.31 |
R9361:Dennd2b
|
UTSW |
7 |
109,126,991 (GRCm39) |
missense |
probably damaging |
1.00 |
R9564:Dennd2b
|
UTSW |
7 |
109,125,536 (GRCm39) |
missense |
probably damaging |
1.00 |
R9595:Dennd2b
|
UTSW |
7 |
109,155,973 (GRCm39) |
missense |
probably damaging |
0.96 |
RF062:Dennd2b
|
UTSW |
7 |
109,156,153 (GRCm39) |
unclassified |
probably benign |
|
X0067:Dennd2b
|
UTSW |
7 |
109,155,447 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TATGTATGTCAGACAAGACTTCCTCC -3'
(R):5'- GCAGAGGTTTTGCCACTTGC -3'
Sequencing Primer
(F):5'- TGTCAGACAAGACTTCCTCCTAATC -3'
(R):5'- GAGGTTTTGCCACTTGCCACAG -3'
|
Posted On |
2017-02-28 |