Incidental Mutation 'R0365:Dennd2b'
ID |
36347 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dennd2b
|
Ensembl Gene |
ENSMUSG00000031024 |
Gene Name |
DENN domain containing 2B |
Synonyms |
Denn2b, 2610305K15Rik, St5, 2010004M01Rik |
MMRRC Submission |
038571-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.390)
|
Stock # |
R0365 (G1)
|
Quality Score |
222 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
109123118-109302812 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 109138156 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 753
(V753E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000078264
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077909]
[ENSMUST00000079282]
[ENSMUST00000084738]
[ENSMUST00000168005]
|
AlphaFold |
Q924W7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000077909
AA Change: V753E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000077067 Gene: ENSMUSG00000031024 AA Change: V753E
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: V753E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000078264 Gene: ENSMUSG00000031024 AA Change: V753E
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: V336E
PolyPhen 2
Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000081789 Gene: ENSMUSG00000031024 AA Change: V336E
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
AA Change: V336E
PolyPhen 2
Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000130119 Gene: ENSMUSG00000031024 AA Change: V336E
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: ENSMUST00000208557
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 96.7%
- 20x: 93.8%
|
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9130401M01Rik |
A |
T |
15: 57,892,088 (GRCm39) |
M173K |
probably benign |
Het |
Abcb1b |
T |
A |
5: 8,856,009 (GRCm39) |
F39Y |
probably damaging |
Het |
Acbd3 |
A |
G |
1: 180,566,177 (GRCm39) |
Y290C |
probably damaging |
Het |
Alg12 |
A |
C |
15: 88,700,352 (GRCm39) |
I28R |
possibly damaging |
Het |
Amer2 |
A |
T |
14: 60,616,984 (GRCm39) |
D393V |
probably damaging |
Het |
Anxa5 |
A |
T |
3: 36,511,618 (GRCm39) |
V153D |
probably damaging |
Het |
Arl5a |
T |
C |
2: 52,306,141 (GRCm39) |
M64V |
probably benign |
Het |
Astn1 |
T |
C |
1: 158,516,118 (GRCm39) |
L1236P |
probably damaging |
Het |
Atg2a |
T |
C |
19: 6,297,713 (GRCm39) |
S424P |
possibly damaging |
Het |
AW551984 |
A |
T |
9: 39,510,617 (GRCm39) |
S239R |
probably benign |
Het |
Baz1b |
T |
C |
5: 135,268,985 (GRCm39) |
V1278A |
probably benign |
Het |
Cbfa2t3 |
G |
T |
8: 123,361,799 (GRCm39) |
L408I |
probably benign |
Het |
Cdc27 |
A |
T |
11: 104,419,250 (GRCm39) |
N227K |
possibly damaging |
Het |
Cdh20 |
A |
T |
1: 110,036,486 (GRCm39) |
Q555H |
probably damaging |
Het |
Cdh23 |
T |
A |
10: 60,215,094 (GRCm39) |
N1412I |
probably damaging |
Het |
Cdhr2 |
T |
C |
13: 54,866,105 (GRCm39) |
S302P |
probably benign |
Het |
Cep350 |
C |
A |
1: 155,782,317 (GRCm39) |
E1563D |
probably benign |
Het |
Cfap221 |
T |
A |
1: 119,912,753 (GRCm39) |
E107V |
probably benign |
Het |
Col6a3 |
C |
A |
1: 90,715,938 (GRCm39) |
R1641L |
unknown |
Het |
Coro6 |
A |
T |
11: 77,354,916 (GRCm39) |
I60F |
probably benign |
Het |
Dock10 |
G |
T |
1: 80,573,400 (GRCm39) |
N245K |
probably damaging |
Het |
Epb41l2 |
T |
A |
10: 25,345,119 (GRCm39) |
N286K |
probably damaging |
Het |
Fam83g |
G |
T |
11: 61,593,935 (GRCm39) |
E490* |
probably null |
Het |
Gnb1l |
T |
C |
16: 18,371,211 (GRCm39) |
I234T |
possibly damaging |
Het |
Gtf3a |
T |
A |
5: 146,885,747 (GRCm39) |
W53R |
probably damaging |
Het |
Ikzf4 |
T |
C |
10: 128,470,276 (GRCm39) |
I415V |
probably benign |
Het |
Il11ra1 |
T |
C |
4: 41,767,527 (GRCm39) |
V293A |
probably damaging |
Het |
Il17ra |
G |
A |
6: 120,455,410 (GRCm39) |
V340M |
probably benign |
Het |
Ino80 |
G |
A |
2: 119,213,441 (GRCm39) |
R1249C |
probably damaging |
Het |
Kif24 |
A |
T |
4: 41,428,731 (GRCm39) |
H76Q |
probably benign |
Het |
Klhl25 |
T |
C |
7: 75,516,264 (GRCm39) |
L390P |
probably damaging |
Het |
Klhl26 |
T |
C |
8: 70,904,479 (GRCm39) |
D443G |
probably damaging |
Het |
Lama3 |
A |
T |
18: 12,640,064 (GRCm39) |
R86S |
probably damaging |
Het |
Lrrc24 |
G |
A |
15: 76,599,984 (GRCm39) |
A385V |
probably benign |
Het |
Maea |
C |
T |
5: 33,517,787 (GRCm39) |
A109V |
probably benign |
Het |
Mtor |
A |
T |
4: 148,570,507 (GRCm39) |
Y1188F |
probably benign |
Het |
Nccrp1 |
T |
C |
7: 28,243,977 (GRCm39) |
D202G |
probably damaging |
Het |
Nsun4 |
A |
T |
4: 115,901,935 (GRCm39) |
L177Q |
probably damaging |
Het |
Nup155 |
C |
T |
15: 8,161,027 (GRCm39) |
R571W |
probably damaging |
Het |
Nup160 |
T |
A |
2: 90,539,188 (GRCm39) |
M789K |
probably benign |
Het |
Odad2 |
T |
A |
18: 7,217,800 (GRCm39) |
H638L |
probably benign |
Het |
Or5an1c |
A |
G |
19: 12,218,440 (GRCm39) |
F195S |
probably benign |
Het |
Or5p50 |
A |
T |
7: 107,422,124 (GRCm39) |
L184* |
probably null |
Het |
Or8d2b |
A |
T |
9: 38,788,481 (GRCm39) |
H3L |
probably benign |
Het |
Pgpep1 |
G |
T |
8: 71,105,174 (GRCm39) |
|
probably null |
Het |
Pkd1l2 |
C |
T |
8: 117,748,589 (GRCm39) |
V1861M |
probably benign |
Het |
Plekha5 |
G |
A |
6: 140,537,473 (GRCm39) |
R646K |
possibly damaging |
Het |
Plin4 |
G |
T |
17: 56,411,667 (GRCm39) |
T788K |
possibly damaging |
Het |
Ppp3r2 |
T |
C |
4: 49,681,902 (GRCm39) |
D16G |
possibly damaging |
Het |
Pramel22 |
G |
T |
4: 143,382,071 (GRCm39) |
Y208* |
probably null |
Het |
Prdm16 |
A |
T |
4: 154,426,513 (GRCm39) |
I424N |
probably damaging |
Het |
Psen2 |
T |
A |
1: 180,056,410 (GRCm39) |
I396F |
probably damaging |
Het |
Psip1 |
C |
T |
4: 83,403,949 (GRCm39) |
|
probably null |
Het |
Ptprd |
G |
A |
4: 76,055,083 (GRCm39) |
T215I |
probably damaging |
Het |
Rec114 |
A |
G |
9: 58,648,822 (GRCm39) |
S2P |
probably benign |
Het |
Rexo1 |
A |
G |
10: 80,378,410 (GRCm39) |
I1181T |
probably damaging |
Het |
Rfx7 |
T |
C |
9: 72,527,118 (GRCm39) |
M1436T |
probably benign |
Het |
Rnf213 |
T |
A |
11: 119,316,937 (GRCm39) |
V1020E |
possibly damaging |
Het |
Rorc |
G |
A |
3: 94,296,069 (GRCm39) |
G83S |
probably damaging |
Het |
Ryr2 |
T |
G |
13: 11,683,725 (GRCm39) |
Q3113P |
possibly damaging |
Het |
Shank1 |
T |
C |
7: 44,003,401 (GRCm39) |
S1698P |
possibly damaging |
Het |
Slc2a2 |
T |
C |
3: 28,762,828 (GRCm39) |
|
probably null |
Het |
Slc5a9 |
A |
T |
4: 111,749,033 (GRCm39) |
Y98* |
probably null |
Het |
Smc6 |
T |
C |
12: 11,333,175 (GRCm39) |
|
probably null |
Het |
Sptb |
G |
T |
12: 76,647,157 (GRCm39) |
F1959L |
probably benign |
Het |
Srgap1 |
T |
A |
10: 121,621,610 (GRCm39) |
H984L |
possibly damaging |
Het |
Ssc5d |
T |
A |
7: 4,931,466 (GRCm39) |
C224* |
probably null |
Het |
Ston2 |
A |
T |
12: 91,614,634 (GRCm39) |
H591Q |
probably benign |
Het |
Tbx3 |
C |
T |
5: 119,813,315 (GRCm39) |
A222V |
possibly damaging |
Het |
Thsd7a |
A |
G |
6: 12,321,886 (GRCm39) |
|
probably null |
Het |
Usp9y |
T |
C |
Y: 1,364,732 (GRCm39) |
D1027G |
probably damaging |
Het |
Wnt5a |
C |
T |
14: 28,240,461 (GRCm39) |
R184* |
probably null |
Het |
Zfpm2 |
A |
G |
15: 40,637,462 (GRCm39) |
E74G |
possibly damaging |
Het |
Zwint |
C |
A |
10: 72,493,127 (GRCm39) |
S223* |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGAAGAACACTCAGGACGTGCC -3'
(R):5'- AGGAGATGCCTTTCAGTCCCTCTAC -3'
Sequencing Primer
(F):5'- aggaaggaaggaaggaaagaaag -3'
(R):5'- TACCCCTACTGCCCCAGG -3'
|
Posted On |
2013-05-09 |