Incidental Mutation 'R5181:Dennd2b'
| ID |
397550 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dennd2b
|
| Ensembl Gene |
ENSMUSG00000031024 |
| Gene Name |
DENN domain containing 2B |
| Synonyms |
Denn2b, 2610305K15Rik, St5, 2010004M01Rik |
| MMRRC Submission |
042761-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.414)
|
| Stock # |
R5181 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
109123118-109302812 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 109155997 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 251
(Y251C)
|
| 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: Y251C
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000077067
Gene: ENSMUSG00000031024
AA Change: Y251C
| 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: Y251C
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000078264
Gene: ENSMUSG00000031024
AA Change: Y251C
| 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
|
| Meta Mutation Damage Score |
0.0627 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
100% (54/54) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
T |
A |
5: 8,764,937 (GRCm39) |
D642E |
probably benign |
Het |
| Anxa2 |
T |
C |
9: 69,383,347 (GRCm39) |
V54A |
probably benign |
Het |
| Ccnb1 |
C |
G |
13: 100,918,283 (GRCm39) |
Q121H |
possibly damaging |
Het |
| Cdca2 |
A |
G |
14: 67,917,614 (GRCm39) |
S595P |
probably damaging |
Het |
| Cenpe |
G |
A |
3: 134,948,064 (GRCm39) |
E1208K |
probably damaging |
Het |
| Cfh |
T |
C |
1: 140,075,384 (GRCm39) |
|
probably benign |
Het |
| Colq |
T |
A |
14: 31,279,799 (GRCm39) |
H9L |
probably benign |
Het |
| Coq8b |
T |
C |
7: 26,951,747 (GRCm39) |
I403T |
possibly damaging |
Het |
| Cyrib |
T |
A |
15: 63,810,526 (GRCm39) |
M234L |
probably damaging |
Het |
| Dcdc2a |
C |
A |
13: 25,386,347 (GRCm39) |
T407K |
possibly damaging |
Het |
| Gask1b |
A |
T |
3: 79,793,618 (GRCm39) |
S29C |
probably benign |
Het |
| Grhl3 |
T |
A |
4: 135,286,415 (GRCm39) |
K89* |
probably null |
Het |
| Inpp5f |
A |
G |
7: 128,281,555 (GRCm39) |
T519A |
probably damaging |
Het |
| Isl2 |
G |
T |
9: 55,449,561 (GRCm39) |
R79L |
probably benign |
Het |
| Kif9 |
T |
A |
9: 110,350,336 (GRCm39) |
D742E |
probably damaging |
Het |
| Lgi2 |
T |
A |
5: 52,711,792 (GRCm39) |
K176M |
probably damaging |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Lrch4 |
A |
G |
5: 137,627,665 (GRCm39) |
D66G |
probably damaging |
Het |
| Milr1 |
G |
A |
11: 106,645,806 (GRCm39) |
G116D |
probably damaging |
Het |
| Myof |
T |
C |
19: 37,921,071 (GRCm39) |
D1397G |
possibly damaging |
Het |
| Neurod2 |
T |
C |
11: 98,218,204 (GRCm39) |
H320R |
probably benign |
Het |
| Nox3 |
A |
T |
17: 3,685,561 (GRCm39) |
Y562* |
probably null |
Het |
| Nrap |
G |
A |
19: 56,333,960 (GRCm39) |
H884Y |
possibly damaging |
Het |
| Odad4 |
G |
A |
11: 100,440,719 (GRCm39) |
D67N |
probably damaging |
Het |
| Pde3a |
T |
C |
6: 141,426,981 (GRCm39) |
|
probably null |
Het |
| Pgm2l1 |
G |
A |
7: 99,910,965 (GRCm39) |
C303Y |
probably benign |
Het |
| Phip |
A |
G |
9: 82,753,243 (GRCm39) |
|
probably benign |
Het |
| Plxna4 |
A |
G |
6: 32,493,932 (GRCm39) |
I228T |
probably damaging |
Het |
| Prdm2 |
A |
G |
4: 142,861,536 (GRCm39) |
S585P |
probably benign |
Het |
| Prpf6 |
T |
C |
2: 181,291,339 (GRCm39) |
I718T |
probably damaging |
Het |
| Rpp40 |
T |
C |
13: 36,080,695 (GRCm39) |
|
probably null |
Het |
| Skic2 |
T |
C |
17: 35,063,802 (GRCm39) |
D547G |
probably benign |
Het |
| Slc22a22 |
T |
A |
15: 57,118,519 (GRCm39) |
Y264F |
probably benign |
Het |
| Slc5a4b |
A |
T |
10: 75,896,221 (GRCm39) |
L578* |
probably null |
Het |
| Sptan1 |
A |
T |
2: 29,883,736 (GRCm39) |
|
probably benign |
Het |
| Sult2a4 |
T |
G |
7: 13,722,316 (GRCm39) |
I50L |
probably benign |
Het |
| Taar6 |
T |
C |
10: 23,860,683 (GRCm39) |
T288A |
possibly damaging |
Het |
| Tmem71 |
C |
T |
15: 66,427,063 (GRCm39) |
S44N |
probably benign |
Het |
| Tmem98 |
T |
C |
11: 80,710,758 (GRCm39) |
V139A |
probably damaging |
Het |
| Triobp |
T |
C |
15: 78,851,954 (GRCm39) |
Y703H |
probably benign |
Het |
| Ttc34 |
A |
G |
4: 154,946,703 (GRCm39) |
T868A |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,665,225 (GRCm39) |
|
probably benign |
Het |
| Vipas39 |
A |
T |
12: 87,286,601 (GRCm39) |
W470R |
probably damaging |
Het |
| Vmn2r102 |
T |
C |
17: 19,897,003 (GRCm39) |
Y117H |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,790,001 (GRCm39) |
N335S |
possibly damaging |
Het |
| Vmn2r70 |
A |
G |
7: 85,208,387 (GRCm39) |
Y697H |
probably damaging |
Het |
| Wnk4 |
C |
A |
11: 101,156,203 (GRCm39) |
R461S |
probably damaging |
Het |
| Xylb |
T |
A |
9: 119,193,567 (GRCm39) |
L87Q |
probably damaging |
Het |
| Zcchc9 |
T |
A |
13: 91,945,281 (GRCm39) |
K101* |
probably null |
Het |
| Zfp503 |
C |
A |
14: 22,035,705 (GRCm39) |
A404S |
probably benign |
Het |
| Zhx1 |
C |
G |
15: 57,917,470 (GRCm39) |
G259R |
probably 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 |
|
|
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 |
|
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'- TGGTCTACACTGTAGCAGCTG -3'
(R):5'- ACCCAGGATGAGTCTGTGTG -3'
Sequencing Primer
(F):5'- GCTAGGGAGCTGGGGGAG -3'
(R):5'- CCAGGATGAGTCTGTGTGGAGAG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation