Incidental Mutation 'R2247:Jak2'
| ID |
240924 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Jak2
|
| Ensembl Gene |
ENSMUSG00000024789 |
| Gene Name |
Janus kinase 2 |
| Synonyms |
C81284 |
| MMRRC Submission |
040247-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2247 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
29229228-29290480 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 29261036 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 344
(V344A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064394
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025705]
[ENSMUST00000065796]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025705
AA Change: V344A
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000025705
Gene: ENSMUSG00000024789
AA Change: V344A
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
33 |
270 |
8.86e-56 |
SMART |
|
SH2
|
397 |
487 |
3.03e-18 |
SMART |
|
STYKc
|
545 |
805 |
1.95e-26 |
SMART |
|
TyrKc
|
849 |
1123 |
8.61e-119 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065796
AA Change: V344A
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000064394
Gene: ENSMUSG00000024789
AA Change: V344A
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
33 |
270 |
8.86e-56 |
SMART |
|
SH2
|
397 |
487 |
3.03e-18 |
SMART |
|
STYKc
|
545 |
805 |
1.95e-26 |
SMART |
|
TyrKc
|
849 |
1123 |
8.61e-119 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product is a protein tyrosine kinase involved in a specific subset of cytokine receptor signaling pathways. It has been found to be constituitively associated with the prolactin receptor and is required for responses to gamma interferon. Mice that do not express an active protein for this gene exhibit embryonic lethality associated with the absence of definitive erythropoiesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for null mutations die during midgestation due to a failure of erythropoieses. Mice expressing a conditional allele activated in mammary tissue exhibit lactation deficiency due to impaired alveologenesis. Mice homozygous for a knock-in allele exhibit myeloproliferative neoplasm. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg3 |
A |
G |
17: 57,184,435 (GRCm39) |
E70G |
possibly damaging |
Het |
| Ash1l |
C |
A |
3: 88,914,674 (GRCm39) |
P1768Q |
possibly damaging |
Het |
| Bicra |
C |
A |
7: 15,723,159 (GRCm39) |
E119D |
probably benign |
Het |
| Brd2 |
A |
G |
17: 34,333,389 (GRCm39) |
F421L |
probably damaging |
Het |
| Cspp1 |
A |
T |
1: 10,136,685 (GRCm39) |
Q182L |
possibly damaging |
Het |
| Dnah7b |
A |
G |
1: 46,316,223 (GRCm39) |
D3112G |
probably damaging |
Het |
| Dsc2 |
T |
A |
18: 20,168,369 (GRCm39) |
I697F |
probably damaging |
Het |
| Ephb1 |
A |
T |
9: 101,874,010 (GRCm39) |
S555T |
probably damaging |
Het |
| Fat4 |
A |
T |
3: 38,946,198 (GRCm39) |
D1697V |
probably damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Impg2 |
A |
G |
16: 56,088,627 (GRCm39) |
K1160R |
probably damaging |
Het |
| Kcnab3 |
A |
G |
11: 69,221,016 (GRCm39) |
T168A |
probably damaging |
Het |
| Kctd18 |
A |
T |
1: 58,006,801 (GRCm39) |
H16Q |
possibly damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Myh11 |
A |
G |
16: 14,095,423 (GRCm39) |
L113P |
probably damaging |
Het |
| Myh13 |
A |
T |
11: 67,225,384 (GRCm39) |
I250F |
probably damaging |
Het |
| Nin |
T |
C |
12: 70,101,319 (GRCm39) |
Y426C |
probably damaging |
Het |
| Or10ab4 |
C |
T |
7: 107,654,989 (GRCm39) |
R267C |
probably benign |
Het |
| Or51ab3 |
T |
A |
7: 103,201,097 (GRCm39) |
|
probably null |
Het |
| Pbrm1 |
A |
G |
14: 30,796,850 (GRCm39) |
H897R |
probably damaging |
Het |
| Pgap4 |
T |
C |
4: 49,586,209 (GRCm39) |
S320G |
probably benign |
Het |
| Plcl2 |
T |
C |
17: 50,913,873 (GRCm39) |
V294A |
probably damaging |
Het |
| Psapl1 |
A |
G |
5: 36,362,410 (GRCm39) |
E334G |
probably benign |
Het |
| Pwwp3a |
A |
G |
10: 80,076,259 (GRCm39) |
Y483C |
probably damaging |
Het |
| Raly |
A |
G |
2: 154,705,953 (GRCm39) |
H277R |
possibly damaging |
Het |
| Ranbp9 |
T |
C |
13: 43,565,901 (GRCm39) |
K462E |
probably damaging |
Het |
| Rptn |
A |
G |
3: 93,304,136 (GRCm39) |
T490A |
probably benign |
Het |
| Rtl1 |
T |
C |
12: 109,561,413 (GRCm39) |
H142R |
possibly damaging |
Het |
| Scart2 |
G |
A |
7: 139,829,042 (GRCm39) |
G234S |
probably null |
Het |
| Shisa3 |
G |
A |
5: 67,768,666 (GRCm39) |
V189M |
probably benign |
Het |
| Slc25a36 |
A |
T |
9: 96,982,191 (GRCm39) |
L28Q |
probably damaging |
Het |
| Slc38a8 |
A |
G |
8: 120,212,389 (GRCm39) |
M318T |
probably benign |
Het |
| Slc4a11 |
A |
T |
2: 130,529,721 (GRCm39) |
M328K |
probably benign |
Het |
| Sp2 |
A |
C |
11: 96,852,844 (GRCm39) |
|
probably null |
Het |
| Sult2b1 |
A |
T |
7: 45,384,734 (GRCm39) |
I114N |
probably damaging |
Het |
| Synrg |
T |
C |
11: 83,900,202 (GRCm39) |
S803P |
probably damaging |
Het |
| Tenm4 |
T |
A |
7: 96,555,216 (GRCm39) |
D2603E |
probably benign |
Het |
| Tnfaip8 |
ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
18: 50,179,912 (GRCm39) |
|
probably null |
Het |
| Zfp189 |
T |
A |
4: 49,530,393 (GRCm39) |
C499S |
possibly damaging |
Het |
| Zfp236 |
A |
G |
18: 82,622,423 (GRCm39) |
F1621S |
possibly damaging |
Het |
|
| Other mutations in Jak2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00839:Jak2
|
APN |
19 |
29,279,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00951:Jak2
|
APN |
19 |
29,276,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01300:Jak2
|
APN |
19 |
29,287,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01800:Jak2
|
APN |
19 |
29,263,693 (GRCm39) |
splice site |
probably benign |
|
|
IGL02035:Jak2
|
APN |
19 |
29,263,808 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL02212:Jak2
|
APN |
19 |
29,265,382 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02447:Jak2
|
APN |
19 |
29,277,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0001:Jak2
|
UTSW |
19 |
29,259,787 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0158:Jak2
|
UTSW |
19 |
29,289,157 (GRCm39) |
missense |
probably benign |
|
|
R0217:Jak2
|
UTSW |
19 |
29,274,050 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0308:Jak2
|
UTSW |
19 |
29,289,157 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0344:Jak2
|
UTSW |
19 |
29,261,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0398:Jak2
|
UTSW |
19 |
29,259,788 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0408:Jak2
|
UTSW |
19 |
29,263,717 (GRCm39) |
missense |
probably benign |
0.38 |
|
R0453:Jak2
|
UTSW |
19 |
29,289,238 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0853:Jak2
|
UTSW |
19 |
29,262,326 (GRCm39) |
nonsense |
probably null |
|
|
R1180:Jak2
|
UTSW |
19 |
29,259,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1794:Jak2
|
UTSW |
19 |
29,276,957 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3908:Jak2
|
UTSW |
19 |
29,268,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4705:Jak2
|
UTSW |
19 |
29,272,315 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4744:Jak2
|
UTSW |
19 |
29,239,656 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4814:Jak2
|
UTSW |
19 |
29,279,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4903:Jak2
|
UTSW |
19 |
29,252,436 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5602:Jak2
|
UTSW |
19 |
29,275,739 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5713:Jak2
|
UTSW |
19 |
29,248,793 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5740:Jak2
|
UTSW |
19 |
29,239,824 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5758:Jak2
|
UTSW |
19 |
29,287,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5966:Jak2
|
UTSW |
19 |
29,260,954 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6285:Jak2
|
UTSW |
19 |
29,273,059 (GRCm39) |
missense |
probably benign |
0.35 |
|
R6439:Jak2
|
UTSW |
19 |
29,287,022 (GRCm39) |
splice site |
probably null |
|
|
R6624:Jak2
|
UTSW |
19 |
29,259,989 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6649:Jak2
|
UTSW |
19 |
29,266,110 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6653:Jak2
|
UTSW |
19 |
29,266,110 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7084:Jak2
|
UTSW |
19 |
29,263,798 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7180:Jak2
|
UTSW |
19 |
29,259,811 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7261:Jak2
|
UTSW |
19 |
29,288,385 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7488:Jak2
|
UTSW |
19 |
29,275,783 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7537:Jak2
|
UTSW |
19 |
29,276,037 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7757:Jak2
|
UTSW |
19 |
29,260,946 (GRCm39) |
missense |
probably benign |
|
|
R7777:Jak2
|
UTSW |
19 |
29,254,268 (GRCm39) |
missense |
probably benign |
0.32 |
|
R8050:Jak2
|
UTSW |
19 |
29,275,732 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8345:Jak2
|
UTSW |
19 |
29,262,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8524:Jak2
|
UTSW |
19 |
29,273,105 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9003:Jak2
|
UTSW |
19 |
29,254,240 (GRCm39) |
missense |
probably benign |
|
|
R9128:Jak2
|
UTSW |
19 |
29,278,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9188:Jak2
|
UTSW |
19 |
29,288,353 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9197:Jak2
|
UTSW |
19 |
29,289,157 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9369:Jak2
|
UTSW |
19 |
29,266,203 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9430:Jak2
|
UTSW |
19 |
29,265,367 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9704:Jak2
|
UTSW |
19 |
29,275,730 (GRCm39) |
nonsense |
probably null |
|
|
X0058:Jak2
|
UTSW |
19 |
29,273,111 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Z1176:Jak2
|
UTSW |
19 |
29,248,798 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGAACTTTAAGTGGCTATCAGC -3'
(R):5'- TGACTCACGCATCAGAGAAGG -3'
Sequencing Primer
(F):5'- AGCACCTTCTTAAGCTTCGTTTGATG -3'
(R):5'- GTTCCCAGATTGCATACAATAAAGGG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation