Incidental Mutation 'R2232:Dennd2b'
ID |
240106 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dennd2b
|
Ensembl Gene |
ENSMUSG00000031024 |
Gene Name |
DENN domain containing 2B |
Synonyms |
Denn2b, 2610305K15Rik, St5, 2010004M01Rik |
MMRRC Submission |
040233-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.414)
|
Stock # |
R2232 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
109123118-109302812 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 109156414 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 112
(D112G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000078264
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077909]
[ENSMUST00000079282]
[ENSMUST00000084738]
[ENSMUST00000168005]
[ENSMUST00000207394]
[ENSMUST00000207745]
[ENSMUST00000208583]
|
AlphaFold |
Q924W7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000077909
AA Change: D112G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000077067 Gene: ENSMUSG00000031024 AA Change: D112G
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: ENSMUST00000079282
AA Change: D112G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000078264 Gene: ENSMUSG00000031024 AA Change: D112G
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 |
probably benign
Transcript: ENSMUST00000208583
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208981
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam1a |
A |
C |
5: 121,657,795 (GRCm39) |
D499E |
possibly damaging |
Het |
Adamtsl2 |
G |
A |
2: 26,993,190 (GRCm39) |
G740E |
probably damaging |
Het |
Adgrf4 |
C |
T |
17: 42,977,789 (GRCm39) |
R518Q |
possibly damaging |
Het |
Akap9 |
G |
A |
5: 4,096,603 (GRCm39) |
V2493I |
probably damaging |
Het |
Ankra2 |
T |
C |
13: 98,407,646 (GRCm39) |
F199L |
probably damaging |
Het |
Ankrd63 |
A |
G |
2: 118,533,846 (GRCm39) |
|
probably benign |
Het |
Asns |
A |
G |
6: 7,689,316 (GRCm39) |
I62T |
possibly damaging |
Het |
Celf3 |
T |
A |
3: 94,387,566 (GRCm39) |
|
probably null |
Het |
Cyp4f37 |
A |
G |
17: 32,853,244 (GRCm39) |
T403A |
probably benign |
Het |
Dgkd |
T |
A |
1: 87,857,464 (GRCm39) |
S725R |
probably benign |
Het |
Dnah5 |
G |
A |
15: 28,408,563 (GRCm39) |
|
probably null |
Het |
Entrep2 |
G |
A |
7: 64,408,970 (GRCm39) |
H475Y |
probably damaging |
Het |
Ergic3 |
A |
G |
2: 155,859,736 (GRCm39) |
T346A |
probably damaging |
Het |
Fam227a |
T |
A |
15: 79,499,582 (GRCm39) |
Y591F |
possibly damaging |
Het |
Gal3st1 |
T |
C |
11: 3,948,282 (GRCm39) |
I163T |
probably benign |
Het |
Ghrhr |
T |
C |
6: 55,362,444 (GRCm39) |
F347S |
probably damaging |
Het |
Htr2a |
A |
T |
14: 74,882,469 (GRCm39) |
I152F |
probably damaging |
Het |
Il17re |
T |
C |
6: 113,441,761 (GRCm39) |
C219R |
probably damaging |
Het |
Kansl2 |
A |
G |
15: 98,422,359 (GRCm39) |
L403S |
probably damaging |
Het |
Kif21a |
G |
A |
15: 90,869,565 (GRCm39) |
Q429* |
probably null |
Het |
L1cam |
T |
A |
X: 72,904,947 (GRCm39) |
N503I |
possibly damaging |
Het |
Lrrk2 |
A |
G |
15: 91,648,919 (GRCm39) |
K1638E |
probably benign |
Het |
Mcpt9 |
A |
T |
14: 56,265,445 (GRCm39) |
C85S |
probably benign |
Het |
Mindy3 |
C |
A |
2: 12,408,856 (GRCm39) |
R73M |
probably benign |
Het |
Mrgprb3 |
T |
C |
7: 48,292,770 (GRCm39) |
I260M |
probably benign |
Het |
Nes |
T |
A |
3: 87,886,238 (GRCm39) |
I1499N |
possibly damaging |
Het |
Ninl |
A |
G |
2: 150,791,970 (GRCm39) |
V851A |
probably benign |
Het |
Oaz3 |
T |
C |
3: 94,341,846 (GRCm39) |
T130A |
probably benign |
Het |
Or10j7 |
A |
G |
1: 173,011,182 (GRCm39) |
I273T |
probably benign |
Het |
Or4c3d |
A |
T |
2: 89,882,569 (GRCm39) |
F33Y |
probably benign |
Het |
Pacs2 |
G |
A |
12: 113,026,987 (GRCm39) |
D605N |
probably damaging |
Het |
Pcare |
A |
G |
17: 72,056,279 (GRCm39) |
S1133P |
probably benign |
Het |
Pdk3 |
G |
T |
X: 92,857,604 (GRCm39) |
N59K |
probably damaging |
Het |
Pigq |
T |
C |
17: 26,151,183 (GRCm39) |
H322R |
probably benign |
Het |
Ppp3r1 |
G |
A |
11: 17,143,115 (GRCm39) |
G68R |
probably damaging |
Het |
Proz |
A |
G |
8: 13,113,356 (GRCm39) |
Y59C |
probably damaging |
Het |
Prpf39 |
C |
T |
12: 65,090,786 (GRCm39) |
R32* |
probably null |
Het |
Prr5 |
T |
C |
15: 84,586,981 (GRCm39) |
S244P |
probably benign |
Het |
Pth2r |
G |
T |
1: 65,375,928 (GRCm39) |
W62L |
probably damaging |
Het |
Scin |
T |
A |
12: 40,118,930 (GRCm39) |
K622I |
probably damaging |
Het |
Serpinb6a |
T |
C |
13: 34,109,303 (GRCm39) |
K143R |
probably damaging |
Het |
Ska1 |
G |
T |
18: 74,330,137 (GRCm39) |
|
probably null |
Het |
Slc30a8 |
G |
T |
15: 52,169,960 (GRCm39) |
R62S |
probably benign |
Het |
Slc8a3 |
A |
C |
12: 81,361,994 (GRCm39) |
I275S |
probably damaging |
Het |
Sp2 |
C |
T |
11: 96,846,762 (GRCm39) |
C527Y |
probably damaging |
Het |
Spmap2l |
A |
G |
5: 77,207,252 (GRCm39) |
I337V |
possibly damaging |
Het |
Sspo |
A |
G |
6: 48,425,606 (GRCm39) |
I76V |
probably damaging |
Het |
Sult1c2 |
G |
T |
17: 54,138,848 (GRCm39) |
T243K |
probably benign |
Het |
Svil |
T |
A |
18: 5,046,640 (GRCm39) |
M1K |
probably null |
Het |
Tet3 |
T |
C |
6: 83,346,453 (GRCm39) |
D1328G |
probably damaging |
Het |
Tnfsf14 |
T |
C |
17: 57,500,876 (GRCm39) |
D65G |
probably benign |
Het |
Trmt9b |
T |
A |
8: 36,979,707 (GRCm39) |
C437S |
probably damaging |
Het |
Ttc3 |
T |
C |
16: 94,260,831 (GRCm39) |
S1439P |
probably benign |
Het |
Ttn |
A |
T |
2: 76,774,497 (GRCm39) |
F2136L |
probably damaging |
Het |
Usb1 |
T |
G |
8: 96,070,674 (GRCm39) |
L200R |
probably damaging |
Het |
Usp20 |
A |
G |
2: 30,908,750 (GRCm39) |
N777S |
probably benign |
Het |
Zfp92 |
G |
T |
X: 72,466,358 (GRCm39) |
L450F |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CACAGACTCATCCTGGGTGAAG -3'
(R):5'- GTGACAGTGAAACCTCAGCCTG -3'
Sequencing Primer
(F):5'- ATCCTGGGTGAAGCCTCTC -3'
(R):5'- TGAAACCTCAGCCTGCAGGTAC -3'
|
Posted On |
2014-10-15 |