Incidental Mutation 'R3919:Bmp2k'
| ID |
306884 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bmp2k
|
| Ensembl Gene |
ENSMUSG00000034663 |
| Gene Name |
BMP2 inducible kinase |
| Synonyms |
4933417M22Rik, BIKE |
| MMRRC Submission |
040817-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.182)
|
| Stock # |
R3919 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
97145548-97239726 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 97222599 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 674
(S674P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037970
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035635]
|
| AlphaFold |
Q91Z96 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000035635
AA Change: S674P
|
| SMART Domains |
Protein: ENSMUSP00000037970
Gene: ENSMUSG00000034663
AA Change: S674P
| 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 |
|
| Meta Mutation Damage Score |
0.0621 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
98% (49/50) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700028J19Rik |
G |
T |
7: 43,879,852 (GRCm39) |
|
probably benign |
Het |
| 4930567H17Rik |
C |
T |
X: 69,438,135 (GRCm39) |
A53T |
probably benign |
Het |
| Abcb5 |
A |
G |
12: 118,854,353 (GRCm39) |
M854T |
possibly damaging |
Het |
| Akap9 |
T |
A |
5: 4,011,764 (GRCm39) |
Y822* |
probably null |
Het |
| Apoe |
T |
C |
7: 19,430,472 (GRCm39) |
T257A |
probably benign |
Het |
| Atm |
C |
A |
9: 53,403,578 (GRCm39) |
A1365S |
probably benign |
Het |
| Cd177 |
T |
C |
7: 24,443,858 (GRCm39) |
S747G |
probably benign |
Het |
| Cdk5rap2 |
A |
G |
4: 70,298,460 (GRCm39) |
F91L |
possibly damaging |
Het |
| Chil4 |
A |
T |
3: 106,109,848 (GRCm39) |
N388K |
probably benign |
Het |
| Dnah3 |
G |
A |
7: 119,550,303 (GRCm39) |
L3328F |
probably damaging |
Het |
| Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
| Ercc5 |
C |
A |
1: 44,201,091 (GRCm39) |
T217K |
probably damaging |
Het |
| Esyt1 |
T |
A |
10: 128,356,905 (GRCm39) |
|
probably benign |
Het |
| Ifih1 |
C |
A |
2: 62,453,845 (GRCm39) |
|
probably benign |
Het |
| Ints12 |
A |
T |
3: 132,806,444 (GRCm39) |
T124S |
probably benign |
Het |
| Kdm5d |
T |
C |
Y: 939,914 (GRCm39) |
L1022P |
probably damaging |
Het |
| Lama2 |
T |
A |
10: 26,994,501 (GRCm39) |
N1803Y |
probably damaging |
Het |
| Lpcat2 |
C |
T |
8: 93,640,902 (GRCm39) |
T449I |
probably damaging |
Het |
| Ly6c2 |
A |
T |
15: 74,980,613 (GRCm39) |
|
probably null |
Het |
| Mast3 |
T |
C |
8: 71,232,066 (GRCm39) |
K1304E |
probably benign |
Het |
| Mdm4 |
T |
C |
1: 132,922,306 (GRCm39) |
K279E |
possibly damaging |
Het |
| Mest |
G |
A |
6: 30,742,749 (GRCm39) |
S132N |
probably benign |
Het |
| Mras |
T |
A |
9: 99,293,473 (GRCm39) |
I56F |
probably damaging |
Het |
| Mrgprb1 |
T |
C |
7: 48,097,829 (GRCm39) |
K28E |
probably benign |
Het |
| Myrip |
G |
A |
9: 120,261,695 (GRCm39) |
G436D |
probably damaging |
Het |
| Nr2e3 |
T |
A |
9: 59,850,723 (GRCm39) |
T379S |
probably damaging |
Het |
| Or8k27 |
A |
G |
2: 86,275,762 (GRCm39) |
V188A |
probably benign |
Het |
| Plscr3 |
T |
A |
11: 69,738,236 (GRCm39) |
|
probably benign |
Het |
| Pola1 |
C |
A |
X: 92,505,078 (GRCm39) |
R1313L |
probably benign |
Het |
| Ppt2 |
T |
C |
17: 34,841,897 (GRCm39) |
N213S |
probably damaging |
Het |
| Prelid2 |
T |
A |
18: 42,070,740 (GRCm39) |
D31V |
possibly damaging |
Het |
| Psmb9 |
C |
T |
17: 34,402,588 (GRCm39) |
|
probably null |
Het |
| Rec8 |
A |
G |
14: 55,858,716 (GRCm39) |
T164A |
probably benign |
Het |
| Rnf103 |
G |
A |
6: 71,487,331 (GRCm39) |
R654Q |
probably benign |
Het |
| Setdb2 |
T |
A |
14: 59,656,616 (GRCm39) |
I250F |
probably damaging |
Het |
| Slurp1 |
A |
T |
15: 74,598,659 (GRCm39) |
*111K |
probably null |
Het |
| Sphkap |
T |
G |
1: 83,254,179 (GRCm39) |
E903A |
probably damaging |
Het |
| Sst |
T |
C |
16: 23,708,591 (GRCm39) |
D80G |
possibly damaging |
Het |
| Stat4 |
C |
T |
1: 52,135,981 (GRCm39) |
T430I |
possibly damaging |
Het |
| Tmprss4 |
C |
T |
9: 45,091,964 (GRCm39) |
V174M |
probably benign |
Het |
| Trim6 |
A |
T |
7: 103,882,057 (GRCm39) |
Y436F |
probably damaging |
Het |
| Ttc28 |
C |
A |
5: 111,433,245 (GRCm39) |
A2093E |
possibly damaging |
Het |
| Vav3 |
A |
G |
3: 109,434,854 (GRCm39) |
N462D |
possibly damaging |
Het |
| Whrn |
G |
T |
4: 63,413,421 (GRCm39) |
S17* |
probably null |
Het |
| Zfhx4 |
T |
A |
3: 5,464,175 (GRCm39) |
S1469R |
possibly damaging |
Het |
| Zfp108 |
T |
A |
7: 23,960,257 (GRCm39) |
C283S |
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 |
|
|
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 |
|
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'- AACAGGGCTGTGAATTATGGTTTTC -3'
(R):5'- AAACTGCATTTCCCACTTTGG -3'
Sequencing Primer
(F):5'- GTGAATTATGGTTTTCAAAAAGGCTG -3'
(R):5'- TTTGGCAAACGTACAGCAGC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation