Incidental Mutation 'R6546:Bmp2k'
| ID |
521184 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bmp2k
|
| Ensembl Gene |
ENSMUSG00000034663 |
| Gene Name |
BMP2 inducible kinase |
| Synonyms |
4933417M22Rik, BIKE |
| MMRRC Submission |
045325-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.159)
|
| Stock # |
R6546 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
97145548-97239726 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 97235937 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 1120
(Q1120R)
|
| 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: Q1120R
PolyPhen 2
Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000037970
Gene: ENSMUSG00000034663
AA Change: Q1120R
| 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 |
|
| Meta Mutation Damage Score |
0.0595 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
| Validation Efficiency |
100% (35/35) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl3 |
T |
A |
6: 34,776,234 (GRCm39) |
L242M |
probably damaging |
Het |
| Atad2b |
A |
T |
12: 5,040,949 (GRCm39) |
H206L |
probably damaging |
Het |
| Cdk18 |
G |
A |
1: 132,050,088 (GRCm39) |
T29I |
probably damaging |
Het |
| Chrna3 |
T |
A |
9: 54,923,185 (GRCm39) |
I208F |
probably damaging |
Het |
| Dhrs1 |
G |
A |
14: 55,978,729 (GRCm39) |
P140S |
possibly damaging |
Het |
| Dnah14 |
C |
T |
1: 181,566,552 (GRCm39) |
R2775C |
probably damaging |
Het |
| Fnip1 |
T |
G |
11: 54,393,437 (GRCm39) |
N600K |
probably benign |
Het |
| Garin5b |
T |
C |
7: 4,761,464 (GRCm39) |
D416G |
probably benign |
Het |
| Jmjd6 |
T |
C |
11: 116,733,326 (GRCm39) |
Y117C |
probably damaging |
Het |
| Kbtbd4 |
T |
A |
2: 90,739,635 (GRCm39) |
V340E |
probably damaging |
Het |
| Kif26b |
T |
C |
1: 178,755,871 (GRCm39) |
V1995A |
probably damaging |
Het |
| Krt10 |
T |
C |
11: 99,278,221 (GRCm39) |
|
probably null |
Het |
| Macf1 |
T |
C |
4: 123,326,074 (GRCm39) |
D3022G |
probably benign |
Het |
| Map3k13 |
C |
T |
16: 21,740,527 (GRCm39) |
T618I |
probably benign |
Het |
| Mat1a |
G |
A |
14: 40,843,379 (GRCm39) |
V302M |
probably damaging |
Het |
| Med13l |
T |
C |
5: 118,859,539 (GRCm39) |
F242S |
probably damaging |
Het |
| Npffr2 |
A |
T |
5: 89,730,871 (GRCm39) |
K267M |
probably damaging |
Het |
| Nup58 |
A |
T |
14: 60,460,672 (GRCm39) |
|
probably null |
Het |
| Papss2 |
A |
G |
19: 32,640,548 (GRCm39) |
Y440C |
possibly damaging |
Het |
| Ppil4 |
T |
A |
10: 7,674,186 (GRCm39) |
I110N |
probably damaging |
Het |
| Qrfpr |
G |
A |
3: 36,234,414 (GRCm39) |
T309I |
probably damaging |
Het |
| Rbl2 |
C |
A |
8: 91,796,998 (GRCm39) |
S65R |
probably benign |
Het |
| Rchy1 |
G |
A |
5: 92,105,817 (GRCm39) |
H44Y |
probably damaging |
Het |
| Slc19a3 |
T |
C |
1: 83,004,081 (GRCm39) |
T7A |
probably benign |
Het |
| St7 |
C |
T |
6: 17,852,313 (GRCm39) |
A233V |
probably damaging |
Het |
| Syn2 |
T |
A |
6: 115,258,059 (GRCm39) |
S546T |
probably benign |
Het |
| Syne1 |
A |
T |
10: 5,168,645 (GRCm39) |
Y5245* |
probably null |
Het |
| Trmt6 |
A |
G |
2: 132,654,073 (GRCm39) |
W52R |
probably benign |
Het |
| Ubr4 |
G |
A |
4: 139,141,705 (GRCm39) |
V1264M |
probably damaging |
Het |
| Ulk4 |
A |
T |
9: 120,970,960 (GRCm39) |
V1004D |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vmn2r27 |
T |
A |
6: 124,169,369 (GRCm39) |
H587L |
possibly damaging |
Het |
| Vmn2r79 |
A |
G |
7: 86,652,741 (GRCm39) |
R478G |
probably benign |
Het |
| Zp2 |
T |
C |
7: 119,731,748 (GRCm39) |
E669G |
probably benign |
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 |
|
|
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'- TCATCCTCCAGACTTGTGGC -3'
(R):5'- AGGCATCCACTTACTACCCTG -3'
Sequencing Primer
(F):5'- TCCAGACTTGTGGCACCAG -3'
(R):5'- CACCTATCCTGATTAACCTGTGAAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation