Incidental Mutation 'R6664:Bmp2k'
| ID |
526902 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bmp2k
|
| Ensembl Gene |
ENSMUSG00000034663 |
| Gene Name |
BMP2 inducible kinase |
| Synonyms |
4933417M22Rik, BIKE |
| MMRRC Submission |
044784-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.159)
|
| Stock # |
R6664 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
97145548-97239726 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 97235989 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 1137
(K1137N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037970
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035635]
[ENSMUST00000069453]
[ENSMUST00000112969]
|
| AlphaFold |
Q91Z96 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035635
AA Change: K1137N
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000037970
Gene: ENSMUSG00000034663
AA Change: K1137N
| 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 |
probably benign
Transcript: ENSMUST00000069453
|
| SMART Domains |
Protein: ENSMUSP00000069324
Gene: ENSMUSG00000055725
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HlyIII
|
64 |
289 |
3.4e-47 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112969
|
| SMART Domains |
Protein: ENSMUSP00000108593
Gene: ENSMUSG00000055725
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HlyIII
|
64 |
289 |
1.4e-51 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm5 |
T |
C |
4: 144,503,969 (GRCm39) |
*394W |
probably null |
Het |
| AU040320 |
A |
T |
4: 126,729,443 (GRCm39) |
Y535F |
probably damaging |
Het |
| Auh |
G |
C |
13: 53,052,703 (GRCm39) |
S138W |
probably damaging |
Het |
| Btn1a1 |
A |
G |
13: 23,643,490 (GRCm39) |
Y320H |
probably benign |
Het |
| Ccdc18 |
C |
T |
5: 108,315,966 (GRCm39) |
Q479* |
probably null |
Het |
| Cyp4f18 |
A |
T |
8: 72,743,759 (GRCm39) |
S399T |
probably benign |
Het |
| Dcaf13 |
T |
C |
15: 38,982,283 (GRCm39) |
L83P |
probably damaging |
Het |
| Fbxo45 |
T |
C |
16: 32,057,234 (GRCm39) |
N220S |
probably damaging |
Het |
| Fbxw16 |
T |
C |
9: 109,267,326 (GRCm39) |
M302V |
probably benign |
Het |
| Fgb |
A |
T |
3: 82,954,066 (GRCm39) |
S57R |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,289,824 (GRCm39) |
V134A |
probably damaging |
Het |
| Gatad2a |
A |
G |
8: 70,370,139 (GRCm39) |
L189P |
probably damaging |
Het |
| Ifitm7 |
T |
C |
16: 13,801,613 (GRCm39) |
T49A |
probably benign |
Het |
| Itih1 |
T |
C |
14: 30,655,393 (GRCm39) |
T601A |
probably damaging |
Het |
| Jmjd4 |
T |
C |
11: 59,341,245 (GRCm39) |
F59L |
probably benign |
Het |
| Magi2 |
C |
T |
5: 20,907,395 (GRCm39) |
S1323L |
probably benign |
Het |
| Map3k21 |
A |
G |
8: 126,668,610 (GRCm39) |
E732G |
probably benign |
Het |
| Nr4a3 |
G |
A |
4: 48,056,006 (GRCm39) |
R344Q |
probably damaging |
Het |
| Or1j12 |
A |
G |
2: 36,343,110 (GRCm39) |
N171S |
probably benign |
Het |
| Or52e5 |
T |
A |
7: 104,719,395 (GRCm39) |
S240R |
possibly damaging |
Het |
| Pik3cb |
T |
C |
9: 98,976,591 (GRCm39) |
T169A |
possibly damaging |
Het |
| Prl3a1 |
C |
A |
13: 27,454,194 (GRCm39) |
Y57* |
probably null |
Het |
| Ripor2 |
A |
T |
13: 24,859,803 (GRCm39) |
I164F |
probably damaging |
Het |
| Sik2 |
T |
C |
9: 50,846,757 (GRCm39) |
E146G |
probably damaging |
Het |
| Szt2 |
G |
A |
4: 118,248,942 (GRCm39) |
R581C |
probably damaging |
Het |
| Tango6 |
T |
A |
8: 107,468,746 (GRCm39) |
D747E |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Zfp945 |
A |
G |
17: 23,071,339 (GRCm39) |
S187P |
probably damaging |
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 |
|
|
R5835:Bmp2k
|
UTSW |
5 |
97,204,841 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
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 |
|
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'- ATCTGCGTTGATCACACCACC -3'
(R):5'- TCCTGCTTGAAGAAGGCATC -3'
Sequencing Primer
(F):5'- ACCACCATTTTGCCTGGGAG -3'
(R):5'- TGCTTGAAGAAGGCATCCACTTAC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation