Incidental Mutation 'IGL02302:Dennd2b'
ID |
287412 |
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 # |
IGL02302
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
109123118-109302812 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 109124538 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 1101
(V1101A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000078264
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077909]
[ENSMUST00000079282]
[ENSMUST00000084738]
[ENSMUST00000143107]
[ENSMUST00000168005]
[ENSMUST00000156921]
|
AlphaFold |
Q924W7 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000053298
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000077909
AA Change: V1101A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000077067 Gene: ENSMUSG00000031024 AA Change: V1101A
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: V1101A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000078264 Gene: ENSMUSG00000031024 AA Change: V1101A
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
AA Change: V684A
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000081789 Gene: ENSMUSG00000031024 AA Change: V684A
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 |
noncoding transcript
Transcript: ENSMUST00000104387
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132877
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143107
|
SMART Domains |
Protein: ENSMUSP00000123410 Gene: ENSMUSG00000046364
Domain | Start | End | E-Value | Type |
Pfam:Ribosomal_L18e
|
26 |
146 |
7.2e-27 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168005
AA Change: V684A
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000130119 Gene: ENSMUSG00000031024 AA Change: V684A
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 |
noncoding transcript
Transcript: ENSMUST00000207664
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198845
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156921
|
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700066M21Rik |
A |
T |
1: 57,422,257 (GRCm39) |
Q211L |
possibly damaging |
Het |
Abca14 |
T |
A |
7: 119,917,968 (GRCm39) |
|
probably benign |
Het |
Abcb10 |
A |
T |
8: 124,685,411 (GRCm39) |
V543D |
possibly damaging |
Het |
Ankrd17 |
G |
A |
5: 90,431,057 (GRCm39) |
T909I |
probably benign |
Het |
Arhgef3 |
A |
G |
14: 27,084,799 (GRCm39) |
N76S |
probably benign |
Het |
Bbx |
A |
T |
16: 50,045,278 (GRCm39) |
C320S |
probably damaging |
Het |
Castor2 |
G |
A |
5: 134,164,482 (GRCm39) |
V148I |
possibly damaging |
Het |
Cdh23 |
C |
A |
10: 60,159,302 (GRCm39) |
V2159F |
possibly damaging |
Het |
Cmtr2 |
G |
A |
8: 110,948,136 (GRCm39) |
A149T |
probably damaging |
Het |
Cntnap4 |
A |
G |
8: 113,512,535 (GRCm39) |
|
probably benign |
Het |
Col6a3 |
A |
T |
1: 90,709,482 (GRCm39) |
F1905I |
unknown |
Het |
Ddx60 |
A |
G |
8: 62,428,866 (GRCm39) |
Y792C |
possibly damaging |
Het |
Dock4 |
T |
C |
12: 40,775,776 (GRCm39) |
L573P |
probably damaging |
Het |
Dop1b |
A |
G |
16: 93,607,005 (GRCm39) |
I2103V |
probably benign |
Het |
Ear1 |
T |
G |
14: 44,056,504 (GRCm39) |
Q121H |
probably benign |
Het |
Eprs1 |
T |
A |
1: 185,119,321 (GRCm39) |
|
probably benign |
Het |
Ero1a |
T |
C |
14: 45,530,619 (GRCm39) |
K271R |
probably benign |
Het |
Esyt1 |
A |
G |
10: 128,348,236 (GRCm39) |
L884P |
probably damaging |
Het |
F2r |
T |
C |
13: 95,741,160 (GRCm39) |
N125S |
probably damaging |
Het |
Fam217a |
T |
C |
13: 35,095,144 (GRCm39) |
E357G |
probably damaging |
Het |
Gabbr1 |
C |
T |
17: 37,365,689 (GRCm39) |
R123W |
probably damaging |
Het |
Gimap4 |
T |
G |
6: 48,667,347 (GRCm39) |
V34G |
probably damaging |
Het |
Gm3248 |
A |
T |
14: 5,943,011 (GRCm38) |
V180E |
probably benign |
Het |
Hecw2 |
A |
T |
1: 53,972,407 (GRCm39) |
N204K |
probably damaging |
Het |
Ighv1-84 |
T |
A |
12: 115,944,549 (GRCm39) |
K42* |
probably null |
Het |
Kcnh7 |
T |
A |
2: 62,536,402 (GRCm39) |
Q1060L |
probably damaging |
Het |
Kif3b |
T |
A |
2: 153,158,868 (GRCm39) |
I223N |
probably damaging |
Het |
Lama2 |
G |
A |
10: 27,088,039 (GRCm39) |
P913S |
probably benign |
Het |
Lgr4 |
A |
G |
2: 109,832,841 (GRCm39) |
I334M |
probably damaging |
Het |
Lrrc45 |
G |
T |
11: 120,609,351 (GRCm39) |
E403D |
possibly damaging |
Het |
Mccc2 |
A |
G |
13: 100,090,747 (GRCm39) |
L462P |
probably damaging |
Het |
Mfsd13b |
T |
C |
7: 120,598,132 (GRCm39) |
V346A |
probably damaging |
Het |
Muc6 |
T |
C |
7: 141,227,763 (GRCm39) |
T1342A |
possibly damaging |
Het |
Mxd3 |
T |
C |
13: 55,477,091 (GRCm39) |
N56S |
probably benign |
Het |
Niban2 |
A |
G |
2: 32,811,135 (GRCm39) |
I382V |
probably benign |
Het |
Ntn5 |
G |
T |
7: 45,343,672 (GRCm39) |
R337L |
probably damaging |
Het |
Nynrin |
A |
G |
14: 56,105,962 (GRCm39) |
K894E |
probably benign |
Het |
Or1j4 |
G |
T |
2: 36,740,715 (GRCm39) |
G219V |
probably benign |
Het |
Or2a25 |
T |
A |
6: 42,889,272 (GRCm39) |
Y272N |
probably damaging |
Het |
Or4f56 |
A |
C |
2: 111,703,887 (GRCm39) |
S104R |
possibly damaging |
Het |
Or7e168 |
A |
T |
9: 19,719,981 (GRCm39) |
R122S |
probably damaging |
Het |
Pappa2 |
T |
C |
1: 158,542,571 (GRCm39) |
D1772G |
probably benign |
Het |
Pcdh18 |
G |
T |
3: 49,710,387 (GRCm39) |
F309L |
probably benign |
Het |
Pcdhac2 |
G |
T |
18: 37,279,006 (GRCm39) |
R662L |
probably damaging |
Het |
Ppp5c |
G |
A |
7: 16,742,555 (GRCm39) |
S261L |
possibly damaging |
Het |
Qng1 |
G |
A |
13: 58,529,749 (GRCm39) |
R288W |
probably damaging |
Het |
Rc3h1 |
T |
C |
1: 160,765,675 (GRCm39) |
|
probably benign |
Het |
Rfx8 |
A |
C |
1: 39,704,682 (GRCm39) |
S578A |
possibly damaging |
Het |
Rhbdl3 |
T |
G |
11: 80,244,507 (GRCm39) |
*405E |
probably null |
Het |
Rita1 |
C |
T |
5: 120,747,858 (GRCm39) |
A147T |
probably damaging |
Het |
Rnf139 |
G |
T |
15: 58,770,606 (GRCm39) |
L210F |
probably damaging |
Het |
Rragc |
A |
G |
4: 123,814,879 (GRCm39) |
R192G |
possibly damaging |
Het |
Ryr3 |
A |
T |
2: 112,794,701 (GRCm39) |
V137E |
probably damaging |
Het |
S100pbp |
A |
T |
4: 129,076,234 (GRCm39) |
D30E |
probably damaging |
Het |
Smchd1 |
A |
T |
17: 71,665,128 (GRCm39) |
|
probably benign |
Het |
Sppl3 |
T |
A |
5: 115,220,390 (GRCm39) |
C101S |
probably benign |
Het |
St8sia6 |
T |
C |
2: 13,728,324 (GRCm39) |
T74A |
probably benign |
Het |
Sult3a1 |
A |
G |
10: 33,742,571 (GRCm39) |
N66S |
possibly damaging |
Het |
Sv2b |
T |
A |
7: 74,773,947 (GRCm39) |
K508M |
probably damaging |
Het |
Terf1 |
T |
C |
1: 15,903,626 (GRCm39) |
S275P |
probably damaging |
Het |
Tmed8 |
G |
T |
12: 87,220,990 (GRCm39) |
H199N |
probably damaging |
Het |
Tubg2 |
A |
T |
11: 101,046,971 (GRCm39) |
Q9L |
probably damaging |
Het |
Ubxn4 |
C |
T |
1: 128,183,848 (GRCm39) |
|
probably benign |
Het |
Usp34 |
C |
T |
11: 23,417,243 (GRCm39) |
T2964I |
possibly damaging |
Het |
Zfp213 |
A |
G |
17: 23,776,945 (GRCm39) |
S366P |
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 |
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 |
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 |