Incidental Mutation 'IGL02496:Dennd2b'
ID |
295810 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL02496
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
109123118-109302812 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 109155442 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 436
(R436L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000078264
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077909]
[ENSMUST00000079282]
[ENSMUST00000084738]
[ENSMUST00000168005]
[ENSMUST00000207394]
[ENSMUST00000207745]
[ENSMUST00000208583]
|
AlphaFold |
Q924W7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000077909
AA Change: R436L
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000077067 Gene: ENSMUSG00000031024 AA Change: R436L
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 |
possibly damaging
Transcript: ENSMUST00000079282
AA Change: R436L
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000078264 Gene: ENSMUSG00000031024 AA Change: R436L
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 benign
Transcript: ENSMUST00000084738
|
SMART Domains |
Protein: ENSMUSP00000081789 Gene: ENSMUSG00000031024
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 benign
Transcript: ENSMUST00000168005
|
SMART Domains |
Protein: ENSMUSP00000130119 Gene: ENSMUSG00000031024
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 benign
Transcript: ENSMUST00000207394
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207745
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208557
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208981
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208583
|
Coding Region Coverage |
|
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
T |
G |
1: 71,327,712 (GRCm39) |
H1456P |
possibly damaging |
Het |
Abcg1 |
C |
A |
17: 31,324,578 (GRCm39) |
H274Q |
probably damaging |
Het |
Adamts4 |
G |
A |
1: 171,078,512 (GRCm39) |
R44Q |
probably benign |
Het |
Amigo2 |
A |
T |
15: 97,143,494 (GRCm39) |
C309* |
probably null |
Het |
Ccdc88c |
A |
C |
12: 100,919,552 (GRCm39) |
S446A |
probably benign |
Het |
Cd9 |
A |
T |
6: 125,449,458 (GRCm39) |
V28E |
probably damaging |
Het |
Cops2 |
A |
T |
2: 125,678,163 (GRCm39) |
|
probably benign |
Het |
Csn1s1 |
C |
T |
5: 87,825,453 (GRCm39) |
|
probably benign |
Het |
Cul9 |
G |
T |
17: 46,851,302 (GRCm39) |
R373S |
possibly damaging |
Het |
D630045J12Rik |
G |
T |
6: 38,126,640 (GRCm39) |
H1457N |
probably damaging |
Het |
Dnah9 |
A |
G |
11: 65,920,189 (GRCm39) |
S2235P |
probably damaging |
Het |
Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
Fbxo10 |
A |
T |
4: 45,043,883 (GRCm39) |
W647R |
probably damaging |
Het |
Flnb |
T |
A |
14: 7,930,919 (GRCm38) |
|
probably benign |
Het |
Flnc |
G |
T |
6: 29,440,684 (GRCm39) |
V301L |
probably damaging |
Het |
Hfm1 |
T |
C |
5: 107,049,627 (GRCm39) |
S445G |
probably benign |
Het |
Hif3a |
A |
G |
7: 16,773,603 (GRCm39) |
|
probably benign |
Het |
Hsd17b4 |
T |
C |
18: 50,288,220 (GRCm39) |
Y217H |
probably damaging |
Het |
Iba57 |
T |
C |
11: 59,049,772 (GRCm39) |
T192A |
probably benign |
Het |
Igkv5-48 |
A |
T |
6: 69,703,671 (GRCm39) |
I78N |
probably damaging |
Het |
Inhbe |
A |
T |
10: 127,186,797 (GRCm39) |
W128R |
probably damaging |
Het |
Ism1 |
T |
C |
2: 139,599,121 (GRCm39) |
C365R |
probably damaging |
Het |
Kif19a |
A |
T |
11: 114,670,470 (GRCm39) |
T127S |
probably damaging |
Het |
Kmt2d |
C |
A |
15: 98,755,439 (GRCm39) |
|
probably benign |
Het |
Mmp20 |
A |
G |
9: 7,654,042 (GRCm39) |
R321G |
probably damaging |
Het |
Msl2 |
T |
C |
9: 100,977,854 (GRCm39) |
M76T |
possibly damaging |
Het |
Nme9 |
T |
C |
9: 99,351,684 (GRCm39) |
C223R |
probably damaging |
Het |
Nucb1 |
G |
T |
7: 45,144,467 (GRCm39) |
|
probably benign |
Het |
Ocrl |
G |
A |
X: 47,022,315 (GRCm39) |
D262N |
probably benign |
Het |
Or13a18 |
A |
C |
7: 140,190,081 (GRCm39) |
M1L |
probably benign |
Het |
Or5b98 |
T |
A |
19: 12,931,556 (GRCm39) |
I201N |
possibly damaging |
Het |
Or6b1 |
A |
C |
6: 42,815,738 (GRCm39) |
I308L |
probably benign |
Het |
P4ha1 |
A |
G |
10: 59,206,824 (GRCm39) |
|
probably null |
Het |
Parp8 |
T |
C |
13: 116,998,838 (GRCm39) |
|
probably benign |
Het |
Pcdhb6 |
A |
G |
18: 37,468,507 (GRCm39) |
D476G |
probably damaging |
Het |
Pikfyve |
A |
G |
1: 65,303,535 (GRCm39) |
E1685G |
possibly damaging |
Het |
Plod2 |
T |
A |
9: 92,489,147 (GRCm39) |
L714Q |
probably damaging |
Het |
Plscr2 |
A |
G |
9: 92,171,716 (GRCm39) |
I103V |
probably benign |
Het |
Plscr3 |
C |
A |
11: 69,738,209 (GRCm39) |
|
probably benign |
Het |
Pmaip1 |
A |
G |
18: 66,596,370 (GRCm39) |
R80G |
probably damaging |
Het |
Ppm1d |
C |
T |
11: 85,230,492 (GRCm39) |
P370L |
possibly damaging |
Het |
Prr36 |
C |
A |
8: 4,266,407 (GRCm39) |
E48* |
probably null |
Het |
Ptgir |
G |
A |
7: 16,641,409 (GRCm39) |
V234I |
possibly damaging |
Het |
Ptk7 |
A |
T |
17: 46,901,070 (GRCm39) |
V219E |
probably benign |
Het |
Rab39b |
T |
A |
X: 74,618,609 (GRCm39) |
I74F |
probably damaging |
Het |
Rasal2 |
A |
T |
1: 156,977,449 (GRCm39) |
M1075K |
possibly damaging |
Het |
Rpl37a |
G |
A |
1: 72,750,885 (GRCm39) |
A20T |
probably null |
Het |
Serpinb10 |
A |
C |
1: 107,466,155 (GRCm39) |
|
probably null |
Het |
Sipa1l1 |
T |
A |
12: 82,471,868 (GRCm39) |
Y1283N |
probably damaging |
Het |
Slc22a23 |
T |
A |
13: 34,528,468 (GRCm39) |
I105F |
possibly damaging |
Het |
Slc25a20 |
T |
A |
9: 108,559,599 (GRCm39) |
I221N |
probably damaging |
Het |
Smarcal1 |
A |
T |
1: 72,659,247 (GRCm39) |
H691L |
probably damaging |
Het |
Smo |
A |
C |
6: 29,758,480 (GRCm39) |
T542P |
probably damaging |
Het |
Spats2 |
T |
A |
15: 99,071,329 (GRCm39) |
I51N |
probably damaging |
Het |
Spon1 |
G |
T |
7: 113,635,897 (GRCm39) |
V704L |
probably benign |
Het |
Tex9 |
T |
A |
9: 72,389,774 (GRCm39) |
Q112L |
probably benign |
Het |
Tgfbr2 |
T |
C |
9: 115,919,486 (GRCm39) |
E580G |
probably benign |
Het |
Top2b |
T |
A |
14: 16,387,335 (GRCm38) |
V141E |
probably benign |
Het |
Trhde |
A |
T |
10: 114,636,466 (GRCm39) |
L247* |
probably null |
Het |
Umodl1 |
G |
T |
17: 31,217,628 (GRCm39) |
V1145F |
probably damaging |
Het |
Vasp |
C |
A |
7: 18,992,748 (GRCm39) |
|
probably benign |
Het |
Vmn1r8 |
G |
T |
6: 57,013,556 (GRCm39) |
L202F |
probably damaging |
Het |
Vmn2r111 |
T |
C |
17: 22,787,837 (GRCm39) |
T505A |
probably benign |
Het |
Wdr27 |
A |
G |
17: 15,112,693 (GRCm39) |
|
probably benign |
Het |
Wfdc1 |
T |
G |
8: 120,406,909 (GRCm39) |
V109G |
probably damaging |
Het |
Zan |
C |
A |
5: 137,463,056 (GRCm39) |
E708* |
probably null |
Het |
Zbtb1 |
T |
A |
12: 76,432,169 (GRCm39) |
F52I |
possibly damaging |
Het |
Zfp236 |
A |
G |
18: 82,648,117 (GRCm39) |
S1015P |
probably damaging |
Het |
Zfp532 |
T |
C |
18: 65,757,113 (GRCm39) |
S349P |
probably damaging |
Het |
Znfx1 |
A |
T |
2: 166,889,550 (GRCm39) |
C731S |
possibly damaging |
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 |
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 |
R5932:Dennd2b
|
UTSW |
7 |
109,169,223 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
Posted On |
2015-04-16 |