Incidental Mutation 'R5835:Bmp2k'
ID |
449532 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bmp2k
|
Ensembl Gene |
ENSMUSG00000034663 |
Gene Name |
BMP2 inducible kinase |
Synonyms |
4933417M22Rik, BIKE |
MMRRC Submission |
044056-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.182)
|
Stock # |
R5835 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
97145548-97239726 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 97204841 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glycine
at position 392
(V392G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108598
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035635]
[ENSMUST00000112974]
|
AlphaFold |
Q91Z96 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035635
AA Change: V392G
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000037970 Gene: ENSMUSG00000034663 AA Change: V392G
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
37 |
N/A |
INTRINSIC |
Pfam:Pkinase_Tyr
|
48 |
309 |
8.9e-27 |
PFAM |
Pfam:Pkinase
|
48 |
311 |
1.6e-43 |
PFAM |
coiled coil region
|
455 |
490 |
N/A |
INTRINSIC |
low complexity region
|
511 |
538 |
N/A |
INTRINSIC |
low complexity region
|
624 |
636 |
N/A |
INTRINSIC |
low complexity region
|
653 |
664 |
N/A |
INTRINSIC |
low complexity region
|
729 |
753 |
N/A |
INTRINSIC |
low complexity region
|
779 |
794 |
N/A |
INTRINSIC |
low complexity region
|
838 |
852 |
N/A |
INTRINSIC |
Pfam:BMP2K_C
|
873 |
1138 |
7.9e-94 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112974
AA Change: V392G
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000108598 Gene: ENSMUSG00000034663 AA Change: V392G
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
37 |
N/A |
INTRINSIC |
Pfam:Pkinase_Tyr
|
48 |
310 |
5.5e-28 |
PFAM |
Pfam:Pkinase
|
48 |
313 |
5.2e-43 |
PFAM |
Pfam:Kinase-like
|
128 |
302 |
1.2e-7 |
PFAM |
coiled coil region
|
455 |
490 |
N/A |
INTRINSIC |
low complexity region
|
511 |
538 |
N/A |
INTRINSIC |
low complexity region
|
624 |
636 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is the human homolog of mouse BMP-2-inducible kinase. Bone morphogenic proteins (BMPs) play a key role in skeletal development and patterning. Expression of the mouse gene is increased during BMP-2 induced differentiation and the gene product is a putative serine/threonine protein kinase containing a nuclear localization signal. Therefore, the protein encoded by this human homolog is thought to be a protein kinase with a putative regulatory role in attenuating the program of osteoblast differentiation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
All alleles(2) : Gene trapped(2) |
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
A2m |
A |
G |
6: 121,616,295 (GRCm39) |
K141R |
probably damaging |
Het |
Ablim3 |
T |
C |
18: 61,956,993 (GRCm39) |
E278G |
probably damaging |
Het |
Adam28 |
A |
G |
14: 68,893,130 (GRCm39) |
W4R |
possibly damaging |
Het |
Ahnak2 |
T |
C |
12: 112,742,230 (GRCm39) |
N614S |
possibly damaging |
Het |
Arfgef1 |
A |
G |
1: 10,230,964 (GRCm39) |
S1182P |
probably damaging |
Het |
Asb8 |
A |
T |
15: 98,034,263 (GRCm39) |
D97E |
probably damaging |
Het |
AU041133 |
T |
A |
10: 81,987,046 (GRCm39) |
L232H |
probably damaging |
Het |
Capn12 |
C |
A |
7: 28,581,383 (GRCm39) |
H79N |
probably benign |
Het |
Casp2 |
C |
A |
6: 42,244,520 (GRCm39) |
S54R |
possibly damaging |
Het |
Ccdc18 |
T |
C |
5: 108,288,740 (GRCm39) |
S163P |
possibly damaging |
Het |
Ccdc92b |
A |
G |
11: 74,528,838 (GRCm39) |
E114G |
probably benign |
Het |
Cd209c |
C |
A |
8: 3,995,699 (GRCm39) |
M34I |
probably benign |
Het |
Ceacam18 |
A |
T |
7: 43,286,382 (GRCm39) |
H85L |
probably benign |
Het |
Cndp1 |
C |
A |
18: 84,630,958 (GRCm39) |
A434S |
probably benign |
Het |
Crybg1 |
T |
A |
10: 43,851,129 (GRCm39) |
T1581S |
probably benign |
Het |
Cyb5d2 |
A |
T |
11: 72,680,036 (GRCm39) |
D86E |
probably damaging |
Het |
Duox1 |
T |
G |
2: 122,158,341 (GRCm39) |
V608G |
probably benign |
Het |
Exosc10 |
A |
G |
4: 148,649,844 (GRCm39) |
R425G |
probably damaging |
Het |
Fat3 |
A |
T |
9: 16,287,129 (GRCm39) |
I798N |
probably damaging |
Het |
Habp2 |
T |
A |
19: 56,295,218 (GRCm39) |
D36E |
probably benign |
Het |
Herpud1 |
T |
C |
8: 95,118,867 (GRCm39) |
V207A |
probably damaging |
Het |
Htt |
A |
G |
5: 34,970,534 (GRCm39) |
I561V |
probably benign |
Het |
Hyls1 |
G |
A |
9: 35,472,480 (GRCm39) |
S312F |
probably benign |
Het |
Igkv18-36 |
A |
G |
6: 69,969,512 (GRCm39) |
I93T |
probably damaging |
Het |
Kalrn |
T |
G |
16: 33,807,461 (GRCm39) |
E2636A |
probably benign |
Het |
Kif27 |
A |
G |
13: 58,460,960 (GRCm39) |
|
probably null |
Het |
Mep1a |
G |
A |
17: 43,789,055 (GRCm39) |
H574Y |
probably benign |
Het |
Myh6 |
T |
C |
14: 55,187,864 (GRCm39) |
K1197E |
probably damaging |
Het |
Obscn |
T |
C |
11: 58,892,907 (GRCm39) |
T6780A |
probably benign |
Het |
Obscn |
C |
T |
11: 58,932,953 (GRCm39) |
V4808M |
probably damaging |
Het |
Or6c210 |
A |
G |
10: 129,495,803 (GRCm39) |
I43V |
probably benign |
Het |
Pkhd1 |
T |
C |
1: 20,271,307 (GRCm39) |
D3082G |
probably benign |
Het |
Plch1 |
T |
C |
3: 63,604,943 (GRCm39) |
M1645V |
probably benign |
Het |
Ppip5k1 |
A |
G |
2: 121,168,380 (GRCm39) |
V674A |
probably benign |
Het |
Prrc2b |
T |
A |
2: 32,096,485 (GRCm39) |
S619T |
probably benign |
Het |
Rab44 |
A |
T |
17: 29,367,212 (GRCm39) |
H714L |
probably benign |
Het |
Rybp |
A |
G |
6: 100,210,151 (GRCm39) |
Y70H |
possibly damaging |
Het |
Sfrp1 |
A |
G |
8: 23,936,260 (GRCm39) |
K234R |
possibly damaging |
Het |
Slc1a2 |
A |
G |
2: 102,607,795 (GRCm39) |
N481S |
probably damaging |
Het |
Slc44a3 |
T |
G |
3: 121,320,849 (GRCm39) |
I51L |
probably benign |
Het |
Slitrk1 |
A |
G |
14: 109,149,004 (GRCm39) |
F569S |
possibly damaging |
Het |
Smurf2 |
A |
T |
11: 106,726,974 (GRCm39) |
N451K |
probably damaging |
Het |
Sptbn2 |
T |
A |
19: 4,788,247 (GRCm39) |
D1075E |
probably damaging |
Het |
Syngap1 |
A |
T |
17: 27,177,192 (GRCm39) |
H65L |
probably benign |
Het |
Tdrd12 |
T |
C |
7: 35,228,689 (GRCm39) |
D11G |
probably damaging |
Het |
Tex2 |
C |
T |
11: 106,410,739 (GRCm39) |
A926T |
unknown |
Het |
Tm7sf2 |
A |
G |
19: 6,113,914 (GRCm39) |
F209S |
probably damaging |
Het |
Trbv12-2 |
G |
A |
6: 41,095,774 (GRCm39) |
|
probably benign |
Het |
Virma |
T |
A |
4: 11,514,036 (GRCm39) |
L630H |
probably damaging |
Het |
Vmn1r68 |
A |
G |
7: 10,261,747 (GRCm39) |
I117T |
possibly damaging |
Het |
Zan |
C |
A |
5: 137,454,917 (GRCm39) |
R1373L |
unknown |
Het |
|
Other mutations in Bmp2k |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00541:Bmp2k
|
APN |
5 |
97,211,407 (GRCm39) |
splice site |
probably null |
|
IGL01408:Bmp2k
|
APN |
5 |
97,234,823 (GRCm39) |
nonsense |
probably null |
|
IGL02146:Bmp2k
|
APN |
5 |
97,212,689 (GRCm39) |
missense |
unknown |
|
IGL02232:Bmp2k
|
APN |
5 |
97,179,109 (GRCm39) |
splice site |
probably benign |
|
3-1:Bmp2k
|
UTSW |
5 |
97,200,979 (GRCm39) |
missense |
possibly damaging |
0.68 |
R0277:Bmp2k
|
UTSW |
5 |
97,235,682 (GRCm39) |
utr 3 prime |
probably benign |
|
R0284:Bmp2k
|
UTSW |
5 |
97,216,314 (GRCm39) |
missense |
unknown |
|
R0323:Bmp2k
|
UTSW |
5 |
97,235,682 (GRCm39) |
utr 3 prime |
probably benign |
|
R0384:Bmp2k
|
UTSW |
5 |
97,178,984 (GRCm39) |
splice site |
probably benign |
|
R0726:Bmp2k
|
UTSW |
5 |
97,235,353 (GRCm39) |
utr 3 prime |
probably benign |
|
R1479:Bmp2k
|
UTSW |
5 |
97,201,059 (GRCm39) |
missense |
probably benign |
0.16 |
R1686:Bmp2k
|
UTSW |
5 |
97,211,392 (GRCm39) |
missense |
unknown |
|
R1826:Bmp2k
|
UTSW |
5 |
97,209,261 (GRCm39) |
splice site |
probably benign |
|
R3842:Bmp2k
|
UTSW |
5 |
97,235,010 (GRCm39) |
utr 3 prime |
probably benign |
|
R3919:Bmp2k
|
UTSW |
5 |
97,222,599 (GRCm39) |
missense |
unknown |
|
R4649:Bmp2k
|
UTSW |
5 |
97,200,970 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4954:Bmp2k
|
UTSW |
5 |
97,234,623 (GRCm39) |
unclassified |
probably benign |
|
R4975:Bmp2k
|
UTSW |
5 |
97,234,944 (GRCm39) |
utr 3 prime |
probably benign |
|
R5001:Bmp2k
|
UTSW |
5 |
97,201,001 (GRCm39) |
missense |
probably damaging |
1.00 |
R5122:Bmp2k
|
UTSW |
5 |
97,234,874 (GRCm39) |
utr 3 prime |
probably benign |
|
R5260:Bmp2k
|
UTSW |
5 |
97,235,210 (GRCm39) |
utr 3 prime |
probably benign |
|
R5516:Bmp2k
|
UTSW |
5 |
97,235,312 (GRCm39) |
utr 3 prime |
probably benign |
|
R5762:Bmp2k
|
UTSW |
5 |
97,235,050 (GRCm39) |
frame shift |
probably null |
|
R5807:Bmp2k
|
UTSW |
5 |
97,211,353 (GRCm39) |
missense |
unknown |
|
R5928:Bmp2k
|
UTSW |
5 |
97,235,595 (GRCm39) |
utr 3 prime |
probably benign |
|
R6012:Bmp2k
|
UTSW |
5 |
97,211,467 (GRCm39) |
splice site |
probably null |
|
R6546:Bmp2k
|
UTSW |
5 |
97,235,937 (GRCm39) |
missense |
probably benign |
0.32 |
R6664:Bmp2k
|
UTSW |
5 |
97,235,989 (GRCm39) |
missense |
probably benign |
0.03 |
R6962:Bmp2k
|
UTSW |
5 |
97,179,097 (GRCm39) |
nonsense |
probably null |
|
R7081:Bmp2k
|
UTSW |
5 |
97,212,820 (GRCm39) |
missense |
unknown |
|
R7267:Bmp2k
|
UTSW |
5 |
97,216,293 (GRCm39) |
missense |
unknown |
|
R7473:Bmp2k
|
UTSW |
5 |
97,204,871 (GRCm39) |
missense |
probably benign |
0.40 |
R7498:Bmp2k
|
UTSW |
5 |
97,235,978 (GRCm39) |
missense |
probably benign |
0.03 |
R7659:Bmp2k
|
UTSW |
5 |
97,222,578 (GRCm39) |
missense |
unknown |
|
R8331:Bmp2k
|
UTSW |
5 |
97,192,928 (GRCm39) |
missense |
probably damaging |
1.00 |
R8334:Bmp2k
|
UTSW |
5 |
97,175,753 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9355:Bmp2k
|
UTSW |
5 |
97,211,366 (GRCm39) |
nonsense |
probably null |
|
R9627:Bmp2k
|
UTSW |
5 |
97,201,028 (GRCm39) |
missense |
possibly damaging |
0.50 |
X0026:Bmp2k
|
UTSW |
5 |
97,186,392 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Bmp2k
|
UTSW |
5 |
97,201,015 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCTGATATTCTGAGGTGGATACTTAG -3'
(R):5'- AGCCATGTAGCCAGGCTTTC -3'
Sequencing Primer
(F):5'- GTGGTCATCTGTAATAATCAACTGTG -3'
(R):5'- CATGTAGCCAGGCTTTCCTTAAAG -3'
|
Posted On |
2016-12-20 |