Incidental Mutation 'R2869:Dennd2b'
| ID |
253441 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dennd2b
|
| Ensembl Gene |
ENSMUSG00000031024 |
| Gene Name |
DENN domain containing 2B |
| Synonyms |
Denn2b, 2610305K15Rik, St5, 2010004M01Rik |
| MMRRC Submission |
040457-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.414)
|
| Stock # |
R2869 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
109123118-109302812 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 109156637 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 38
(Y38N)
|
| 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: Y38N
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000077067
Gene: ENSMUSG00000031024
AA Change: Y38N
| 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: Y38N
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000078264
Gene: ENSMUSG00000031024
AA Change: Y38N
| 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
AA Change: Y38N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207745
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208557
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208583
AA Change: Y38N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208981
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.4%
- 10x: 93.9%
- 20x: 77.8%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Als2 |
A |
G |
1: 59,250,296 (GRCm39) |
S483P |
probably damaging |
Het |
| Ccl27a |
C |
T |
4: 41,769,640 (GRCm39) |
R73Q |
probably benign |
Het |
| Cd6 |
A |
G |
19: 10,771,990 (GRCm39) |
I307T |
possibly damaging |
Het |
| Ch25h |
T |
A |
19: 34,452,210 (GRCm39) |
H106L |
probably benign |
Het |
| Dhx57 |
A |
T |
17: 80,558,805 (GRCm39) |
D1051E |
probably benign |
Het |
| Eef2 |
GCCC |
GCCCC |
10: 81,014,601 (GRCm39) |
|
probably null |
Het |
| Eif4enif1 |
C |
T |
11: 3,192,586 (GRCm39) |
P805S |
probably damaging |
Het |
| Fan1 |
A |
G |
7: 64,012,938 (GRCm39) |
I668T |
probably benign |
Het |
| Frmpd4 |
A |
T |
X: 166,260,243 (GRCm39) |
D1166E |
probably benign |
Het |
| Gbp11 |
C |
T |
5: 105,478,866 (GRCm39) |
D191N |
probably benign |
Het |
| Ggt6 |
A |
T |
11: 72,328,187 (GRCm39) |
N229I |
probably benign |
Het |
| Gria2 |
G |
A |
3: 80,609,799 (GRCm39) |
T670I |
probably damaging |
Het |
| Gsdme |
A |
T |
6: 50,185,157 (GRCm39) |
C432* |
probably null |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
A |
T |
1: 150,614,467 (GRCm39) |
V1313D |
possibly damaging |
Het |
| Kcnb1 |
A |
G |
2: 166,947,855 (GRCm39) |
L331P |
probably damaging |
Het |
| Klf8 |
A |
T |
X: 152,165,678 (GRCm39) |
E82D |
probably damaging |
Het |
| Krt13 |
A |
G |
11: 100,008,475 (GRCm39) |
S421P |
unknown |
Het |
| Lactbl1 |
G |
A |
4: 136,354,097 (GRCm39) |
C37Y |
probably damaging |
Het |
| Lzts2 |
C |
A |
19: 45,012,534 (GRCm39) |
S321* |
probably null |
Het |
| Meikin |
T |
C |
11: 54,264,333 (GRCm39) |
V103A |
possibly damaging |
Het |
| Mki67 |
G |
A |
7: 135,309,878 (GRCm39) |
P191L |
probably benign |
Het |
| Mlxip |
A |
G |
5: 123,590,730 (GRCm39) |
M878V |
probably benign |
Het |
| Mpp7 |
G |
A |
18: 7,461,678 (GRCm39) |
P65L |
possibly damaging |
Het |
| Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
| Myo9b |
G |
A |
8: 71,786,981 (GRCm39) |
R721Q |
probably benign |
Het |
| Nbn |
T |
A |
4: 15,963,810 (GRCm39) |
D70E |
probably damaging |
Het |
| Nomo1 |
C |
A |
7: 45,696,361 (GRCm39) |
T293N |
probably damaging |
Het |
| Notum |
A |
G |
11: 120,551,022 (GRCm39) |
V48A |
probably benign |
Het |
| Nwd2 |
A |
T |
5: 63,957,671 (GRCm39) |
I334L |
probably benign |
Het |
| Or10z1 |
T |
C |
1: 174,078,092 (GRCm39) |
S134G |
probably benign |
Het |
| Or4k2 |
T |
C |
14: 50,423,811 (GRCm39) |
T288A |
probably benign |
Het |
| Or6c211 |
A |
T |
10: 129,505,628 (GRCm39) |
C253* |
probably null |
Het |
| Ostc |
T |
C |
3: 130,497,157 (GRCm39) |
N80S |
probably damaging |
Het |
| Otud4 |
T |
A |
8: 80,387,702 (GRCm39) |
N300K |
possibly damaging |
Het |
| Palmd |
T |
C |
3: 116,717,400 (GRCm39) |
R366G |
possibly damaging |
Het |
| Parp1 |
A |
G |
1: 180,401,230 (GRCm39) |
D45G |
probably damaging |
Het |
| Pes1 |
C |
A |
11: 3,926,834 (GRCm39) |
T372K |
probably benign |
Het |
| Plcl1 |
A |
T |
1: 55,736,309 (GRCm39) |
D550V |
probably benign |
Het |
| Ppp1r7 |
T |
A |
1: 93,285,585 (GRCm39) |
|
probably null |
Het |
| Prdx4 |
A |
G |
X: 154,123,460 (GRCm39) |
V15A |
probably benign |
Het |
| Psmb8 |
T |
C |
17: 34,419,144 (GRCm39) |
I146T |
probably damaging |
Het |
| Psmd13 |
A |
T |
7: 140,466,968 (GRCm39) |
T116S |
probably damaging |
Het |
| Pzp |
A |
T |
6: 128,462,519 (GRCm39) |
|
probably null |
Het |
| Serinc2 |
A |
G |
4: 130,159,005 (GRCm39) |
S29P |
probably damaging |
Het |
| Slc39a8 |
T |
A |
3: 135,592,554 (GRCm39) |
|
probably null |
Het |
| Sppl2c |
C |
T |
11: 104,078,141 (GRCm39) |
P314S |
probably benign |
Het |
| St7 |
C |
T |
6: 17,819,276 (GRCm39) |
P60L |
probably damaging |
Het |
| Stx3 |
A |
T |
19: 11,766,938 (GRCm39) |
V91D |
probably damaging |
Het |
| Tafa2 |
A |
T |
10: 123,540,270 (GRCm39) |
H42L |
possibly damaging |
Het |
| Tnni3k |
C |
T |
3: 154,644,387 (GRCm39) |
|
probably null |
Het |
| Tprg1 |
T |
C |
16: 25,231,590 (GRCm39) |
W189R |
probably damaging |
Het |
| Trim32 |
A |
G |
4: 65,532,694 (GRCm39) |
D417G |
probably damaging |
Het |
| Vmn2r68 |
A |
C |
7: 84,882,834 (GRCm39) |
M306R |
probably benign |
Het |
| Vwa7 |
G |
A |
17: 35,240,218 (GRCm39) |
M395I |
probably damaging |
Het |
| Ybx3 |
G |
A |
6: 131,347,376 (GRCm39) |
A253V |
probably damaging |
Het |
| Zfp53 |
A |
T |
17: 21,728,340 (GRCm39) |
E124D |
probably benign |
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 |
|
|
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 |
|
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'- TGAAGCTGGTAGCCTTGAGG -3'
(R):5'- GCTATTCTTTACTTGAGGACAGCC -3'
Sequencing Primer
(F):5'- CCTTGAGGGTACAAATGGGTG -3'
(R):5'- GTAGCCAGTGATGACCTTGAACTC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation