Incidental Mutation 'IGL02795:Dennd2b'
ID |
359933 |
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 # |
IGL02795
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
109123118-109302812 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 109155571 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 393
(Y393C)
|
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 damaging
Transcript: ENSMUST00000077909
AA Change: Y393C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000077067 Gene: ENSMUSG00000031024 AA Change: Y393C
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: Y393C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000078264 Gene: ENSMUSG00000031024 AA Change: Y393C
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: ENSMUST00000208981
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208557
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
A |
G |
1: 71,327,907 (GRCm39) |
L1391P |
probably damaging |
Het |
Abcc3 |
G |
A |
11: 94,252,468 (GRCm39) |
|
probably benign |
Het |
Acvr1 |
A |
G |
2: 58,352,964 (GRCm39) |
I332T |
probably damaging |
Het |
Atp8a2 |
C |
T |
14: 60,271,191 (GRCm39) |
V247M |
probably damaging |
Het |
Btn1a1 |
T |
C |
13: 23,644,786 (GRCm39) |
|
probably null |
Het |
Btnl9 |
A |
T |
11: 49,065,694 (GRCm39) |
|
probably benign |
Het |
Dbx1 |
T |
A |
7: 49,286,325 (GRCm39) |
I47F |
probably benign |
Het |
Dnaja3 |
A |
G |
16: 4,507,937 (GRCm39) |
|
probably benign |
Het |
Dnmt1 |
T |
C |
9: 20,838,407 (GRCm39) |
S220G |
probably benign |
Het |
Dock9 |
A |
T |
14: 121,877,390 (GRCm39) |
M451K |
probably benign |
Het |
Eml3 |
A |
G |
19: 8,911,142 (GRCm39) |
Y257C |
probably benign |
Het |
Fam3d |
T |
A |
14: 8,355,497 (GRCm38) |
M113L |
probably benign |
Het |
Fbxw19 |
C |
A |
9: 109,324,886 (GRCm39) |
M10I |
possibly damaging |
Het |
Flg2 |
C |
T |
3: 93,110,920 (GRCm39) |
R983W |
unknown |
Het |
Galnt5 |
C |
A |
2: 57,917,883 (GRCm39) |
P707H |
probably damaging |
Het |
Gba2 |
G |
T |
4: 43,578,331 (GRCm39) |
P6Q |
probably damaging |
Het |
Gm13199 |
A |
G |
2: 5,867,484 (GRCm39) |
|
probably benign |
Het |
Gpr45 |
C |
T |
1: 43,071,653 (GRCm39) |
R99C |
possibly damaging |
Het |
Hecw1 |
G |
A |
13: 14,497,102 (GRCm39) |
S302L |
probably damaging |
Het |
Hrg |
T |
C |
16: 22,776,303 (GRCm39) |
|
probably benign |
Het |
Lama1 |
A |
G |
17: 68,045,889 (GRCm39) |
|
probably null |
Het |
Lgr4 |
T |
C |
2: 109,838,555 (GRCm39) |
|
probably benign |
Het |
Lrrc9 |
C |
T |
12: 72,525,542 (GRCm39) |
T830M |
probably damaging |
Het |
Mdga2 |
T |
C |
12: 66,736,206 (GRCm39) |
T341A |
probably benign |
Het |
Mms19 |
C |
T |
19: 41,940,845 (GRCm39) |
|
probably null |
Het |
Nectin1 |
A |
G |
9: 43,714,849 (GRCm39) |
S362G |
probably benign |
Het |
Nlrc3 |
G |
T |
16: 3,783,149 (GRCm39) |
H87N |
probably damaging |
Het |
Or1e17 |
G |
A |
11: 73,831,755 (GRCm39) |
V228I |
probably benign |
Het |
Or2ah1 |
T |
A |
2: 85,653,856 (GRCm39) |
C180* |
probably null |
Het |
Or4b13 |
A |
G |
2: 90,082,906 (GRCm39) |
L142P |
probably damaging |
Het |
Or52a20 |
T |
A |
7: 103,366,090 (GRCm39) |
F96L |
probably benign |
Het |
Or5h17 |
G |
T |
16: 58,820,640 (GRCm39) |
L197F |
possibly damaging |
Het |
Pcsk1 |
G |
T |
13: 75,260,739 (GRCm39) |
G321C |
probably damaging |
Het |
Poglut3 |
A |
G |
9: 53,303,405 (GRCm39) |
D99G |
probably damaging |
Het |
Prrc2c |
G |
T |
1: 162,541,868 (GRCm39) |
P374T |
probably benign |
Het |
Rusc1 |
A |
T |
3: 88,999,257 (GRCm39) |
L175Q |
probably damaging |
Het |
Ryr2 |
T |
C |
13: 11,610,076 (GRCm39) |
N4250S |
probably benign |
Het |
Scara5 |
A |
C |
14: 65,968,129 (GRCm39) |
N134T |
possibly damaging |
Het |
Sema4d |
T |
C |
13: 51,857,447 (GRCm39) |
K595R |
probably benign |
Het |
Serpinb6a |
A |
C |
13: 34,115,576 (GRCm39) |
L15R |
probably damaging |
Het |
Setdb1 |
A |
T |
3: 95,234,684 (GRCm39) |
N1006K |
probably damaging |
Het |
Slc18a2 |
G |
A |
19: 59,262,922 (GRCm39) |
|
probably benign |
Het |
Slc22a30 |
C |
T |
19: 8,378,259 (GRCm39) |
C139Y |
probably damaging |
Het |
Slc25a27 |
T |
A |
17: 43,958,003 (GRCm39) |
Y269F |
probably damaging |
Het |
Slc9c1 |
A |
T |
16: 45,395,782 (GRCm39) |
D611V |
probably benign |
Het |
Spag6 |
G |
T |
2: 18,737,894 (GRCm39) |
V255F |
probably benign |
Het |
Svep1 |
C |
A |
4: 58,123,223 (GRCm39) |
G698W |
probably damaging |
Het |
Syne2 |
T |
C |
12: 76,013,323 (GRCm39) |
L2839P |
probably damaging |
Het |
Tfb2m |
T |
C |
1: 179,373,524 (GRCm39) |
E58G |
possibly damaging |
Het |
Trim24 |
A |
T |
6: 37,896,324 (GRCm39) |
E260D |
probably damaging |
Het |
Ugt2b1 |
T |
A |
5: 87,065,560 (GRCm39) |
D493V |
probably damaging |
Het |
Vmn1r27 |
A |
G |
6: 58,192,287 (GRCm39) |
V189A |
possibly damaging |
Het |
Vmn2r91 |
A |
G |
17: 18,305,539 (GRCm39) |
Q74R |
probably benign |
Het |
Vps25 |
A |
G |
11: 101,146,916 (GRCm39) |
Y64C |
probably damaging |
Het |
Xirp2 |
G |
A |
2: 67,339,480 (GRCm39) |
G574S |
probably damaging |
Het |
Ythdc2 |
A |
G |
18: 44,970,505 (GRCm39) |
E273G |
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 |
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 |
2015-12-18 |