Incidental Mutation 'R5937:Dennd2b'
| ID |
462325 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dennd2b
|
| Ensembl Gene |
ENSMUSG00000031024 |
| Gene Name |
DENN domain containing 2B |
| Synonyms |
Denn2b, 2610305K15Rik, St5, 2010004M01Rik |
| MMRRC Submission |
043242-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.390)
|
| Stock # |
R5937 (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 109156478 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 91
(C91S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146747
(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: C91S
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000077067
Gene: ENSMUSG00000031024
AA Change: C91S
| 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: C91S
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000078264
Gene: ENSMUSG00000031024
AA Change: C91S
| 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 |
possibly damaging
Transcript: ENSMUST00000207394
AA Change: C91S
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207745
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208557
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208583
AA Change: C91S
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208981
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.3%
- 20x: 91.5%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
A |
T |
15: 60,791,495 (GRCm39) |
W314R |
probably benign |
Het |
| Adgrv1 |
A |
T |
13: 81,255,194 (GRCm39) |
V6143E |
probably damaging |
Het |
| Agap3 |
C |
T |
5: 24,682,815 (GRCm39) |
T261I |
probably damaging |
Het |
| Ano6 |
T |
C |
15: 95,811,838 (GRCm39) |
I241T |
probably damaging |
Het |
| Arhgef28 |
T |
C |
13: 98,076,051 (GRCm39) |
T1328A |
probably benign |
Het |
| Capn10 |
C |
T |
1: 92,867,105 (GRCm39) |
R112W |
probably damaging |
Het |
| Car5a |
A |
T |
8: 122,666,560 (GRCm39) |
W46R |
probably damaging |
Het |
| Cntn6 |
C |
A |
6: 104,810,064 (GRCm39) |
T582K |
possibly damaging |
Het |
| Ctsh |
T |
C |
9: 89,943,509 (GRCm39) |
V60A |
probably benign |
Het |
| Ctsll3 |
A |
G |
13: 60,947,410 (GRCm39) |
F259L |
probably damaging |
Het |
| Fam228a |
T |
C |
12: 4,787,725 (GRCm39) |
E16G |
probably damaging |
Het |
| G3bp2 |
A |
G |
5: 92,203,256 (GRCm39) |
I388T |
probably damaging |
Het |
| Galnt5 |
A |
T |
2: 57,928,949 (GRCm39) |
K926N |
probably benign |
Het |
| Gm10097 |
G |
A |
10: 5,019,485 (GRCm39) |
|
probably benign |
Het |
| Gm9978 |
T |
A |
10: 78,322,675 (GRCm39) |
|
noncoding transcript |
Het |
| Gria1 |
A |
G |
11: 57,080,559 (GRCm39) |
T112A |
probably benign |
Het |
| Hnrnpk |
A |
C |
13: 58,543,016 (GRCm39) |
V134G |
probably damaging |
Het |
| Insr |
A |
G |
8: 3,224,808 (GRCm39) |
V220A |
probably benign |
Het |
| Lhx4 |
A |
G |
1: 155,586,023 (GRCm39) |
I96T |
probably damaging |
Het |
| Lrp1 |
T |
C |
10: 127,419,745 (GRCm39) |
T955A |
possibly damaging |
Het |
| Lrtm1 |
T |
C |
14: 28,743,787 (GRCm39) |
V85A |
possibly damaging |
Het |
| Man2a2 |
T |
C |
7: 80,013,251 (GRCm39) |
Y514C |
probably damaging |
Het |
| Npas1 |
T |
A |
7: 16,197,187 (GRCm39) |
D226V |
probably benign |
Het |
| Nrcam |
G |
A |
12: 44,619,074 (GRCm39) |
V858I |
probably benign |
Het |
| Or14c40 |
G |
T |
7: 86,313,684 (GRCm39) |
L271F |
probably benign |
Het |
| Or5b108 |
T |
A |
19: 13,168,675 (GRCm39) |
S215T |
probably damaging |
Het |
| Pde6b |
G |
T |
5: 108,572,193 (GRCm39) |
A478S |
probably benign |
Het |
| Pex1 |
T |
A |
5: 3,674,487 (GRCm39) |
N789K |
possibly damaging |
Het |
| Plekha6 |
A |
G |
1: 133,187,839 (GRCm39) |
D120G |
possibly damaging |
Het |
| Pomgnt1 |
A |
G |
4: 116,011,110 (GRCm39) |
T220A |
probably benign |
Het |
| Sdr39u1 |
A |
T |
14: 56,135,364 (GRCm39) |
I193K |
probably damaging |
Het |
| Sec61a2 |
C |
A |
2: 5,891,368 (GRCm39) |
M54I |
probably benign |
Het |
| Sema5a |
A |
G |
15: 32,574,987 (GRCm39) |
Y365C |
probably damaging |
Het |
| Sra1 |
C |
T |
18: 36,804,652 (GRCm39) |
|
probably null |
Het |
| Taf5 |
C |
T |
19: 47,070,334 (GRCm39) |
S640L |
probably damaging |
Het |
| Tas2r140 |
T |
A |
6: 133,032,236 (GRCm39) |
H174L |
probably benign |
Het |
| Tmem63a |
T |
A |
1: 180,788,716 (GRCm39) |
V351D |
probably damaging |
Het |
| Ttll7 |
C |
T |
3: 146,649,847 (GRCm39) |
Q626* |
probably null |
Het |
| Ubn2 |
T |
A |
6: 38,440,917 (GRCm39) |
V263E |
possibly damaging |
Het |
| Vmn2r106 |
C |
T |
17: 20,505,667 (GRCm39) |
W9* |
probably null |
Het |
| Xrcc3 |
C |
G |
12: 111,774,406 (GRCm39) |
C141S |
probably null |
Het |
| Zfp516 |
T |
A |
18: 82,974,958 (GRCm39) |
D385E |
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 |
|
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 |
|
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'- TCTCTCGGATACCCAGGCTATG -3'
(R):5'- AGGTCTCAGTCAGTCTCTCC -3'
Sequencing Primer
(F):5'- GGTACCAGTGCAACTCAGC -3'
(R):5'- AGTCAGTCTCTCCACCTCCAG -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation