Mutagenetix > Incidental Mutations

Incidental Mutation 'R0001:Jak2'

32278

Institutional Source

Beutler Lab

Gene Symbol

Jak2

Ensembl Gene

ENSMUSG00000024789

Gene Name

Janus kinase 2

Synonyms

C81284

MMRRC Submission

038297-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0001 (G1)

Quality Score

182

Status

Validated

Chromosome

Chromosomal Location

29251828-29313080 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29282387 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 229 (I229V)

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: I229V

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000025705
Gene: ENSMUSG00000024789
AA Change: I229V

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: I229V

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000064394
Gene: ENSMUSG00000024789
AA Change: I229V

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

Meta Mutation Damage Score

0.1570

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.6%

Validation Efficiency

99% (76/77)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019N19Rik	G	A	19: 58,789,171	A61V	probably damaging	Het
2900092C05Rik	T	A	7: 12,554,607		probably benign	Het
A4galt	A	G	15: 83,228,289	F98L	probably benign	Het
Abca4	T	G	3: 122,081,011		probably benign	Het
Acacb	C	T	5: 114,204,833		probably benign	Het
Agbl1	A	T	7: 76,419,863	H367L	probably damaging	Het
Apoa4	C	A	9: 46,242,892	Q264K	probably benign	Het
Camsap2	A	T	1: 136,282,888		probably benign	Het
Cdan1	C	A	2: 120,723,751	R939L	probably benign	Het
Ceacam18	G	A	7: 43,636,876	V58I	possibly damaging	Het
Ciita	A	T	16: 10,514,433		probably benign	Het
Clk4	T	A	11: 51,268,765		probably benign	Het
Cntnap2	T	C	6: 46,530,171	D215G	probably benign	Het
Col11a2	T	C	17: 34,061,612	S1218P	probably benign	Het
Col20a1	T	C	2: 180,984,412		probably benign	Het
Ctsb	A	G	14: 63,135,622	E76G	probably benign	Het
Ctu2	T	C	8: 122,478,920	C161R	probably benign	Het
Dhx29	T	C	13: 112,964,556	L1211P	probably damaging	Het
Dhx9	G	T	1: 153,462,636	T759K	probably damaging	Het
Dmxl1	T	C	18: 49,888,897		probably benign	Het
Dpysl3	C	T	18: 43,358,375	E226K	possibly damaging	Het
Eif2d	A	T	1: 131,168,127	K453*	probably null	Het
Epha7	T	C	4: 28,961,279		probably benign	Het
Fam160b1	T	A	19: 57,381,756	H477Q	probably benign	Het
Fat3	T	C	9: 16,377,873	D118G	probably damaging	Het
Foxn4	T	A	5: 114,260,870	Q159L	probably damaging	Het
Frs2	G	T	10: 117,074,876	H194N	possibly damaging	Het
Fut8	A	T	12: 77,475,315	*576L	probably null	Het
Galns	T	C	8: 122,595,883		probably benign	Het
Gamt	G	A	10: 80,259,061		probably benign	Het
Gpn1	T	A	5: 31,495,617		probably benign	Het
Ipcef1	G	T	10: 6,900,600	H330Q	probably damaging	Het
Itga4	A	C	2: 79,326,587	Y1024S	probably damaging	Het
Katnal1	A	G	5: 148,921,275	S42P	probably damaging	Het
Kcnu1	A	T	8: 25,859,270	D142V	probably damaging	Het
Lig3	C	T	11: 82,790,591	R470W	probably damaging	Het
Mgat4c	A	G	10: 102,388,956	S344G	probably benign	Het
Miox	C	T	15: 89,336,274	L189F	possibly damaging	Het
Mipol1	C	T	12: 57,460,839		probably benign	Het
Mki67	C	T	7: 135,699,172	V1378M	probably damaging	Het
Mki67	T	A	7: 135,701,019	D762V	probably damaging	Het
Mmp9	A	G	2: 164,948,383	T43A	probably benign	Het
Muc6	T	C	7: 141,641,574	T1316A	possibly damaging	Het
Naip5	A	G	13: 100,214,650		probably null	Het
Naip5	C	A	13: 100,223,114	S538I	probably benign	Het
Nek3	A	T	8: 22,158,612		probably benign	Het
Nlrp1b	A	G	11: 71,161,759	S948P	probably damaging	Het
Nyap2	A	T	1: 81,192,107	H193L	probably benign	Het
Olfr1413	A	G	1: 92,573,461	K97E	possibly damaging	Het
Olfr648	T	A	7: 104,179,473	K312*	probably null	Het
Patl2	G	A	2: 122,125,710		probably benign	Het
Pcdhb11	A	T	18: 37,423,989	R791W	probably benign	Het
Pkd1l3	C	A	8: 109,628,633		probably benign	Het
Pkn2	A	T	3: 142,828,988	V73D	probably benign	Het
Pknox1	A	T	17: 31,599,636	H281L	probably damaging	Het
Polr3a	A	G	14: 24,452,189		probably benign	Het
Prss38	A	G	11: 59,373,180		probably benign	Het
Rad54l2	A	G	9: 106,708,217	F783S	probably damaging	Het
Rbm5	T	C	9: 107,742,424	R125G	probably damaging	Het
Rnpep	A	G	1: 135,272,485		probably benign	Het
Slc1a5	T	A	7: 16,793,637		probably null	Het
Slc22a4	G	A	11: 54,028,003		probably benign	Het
Spink12	T	C	18: 44,107,696	C50R	probably damaging	Het
Svep1	G	A	4: 58,066,460	T3208I	possibly damaging	Het
Tgm5	G	T	2: 121,077,646	D16E	probably damaging	Het
Tpp2	A	G	1: 43,971,726	N558D	probably benign	Het
Trappc9	A	T	15: 72,963,662	L507Q	probably damaging	Het
Trpm3	A	T	19: 22,715,331	Q262L	possibly damaging	Het
Ttn	A	G	2: 76,776,972		probably benign	Het
Ttn	G	A	2: 76,832,089		probably benign	Het
Ubr4	T	A	4: 139,451,788	L3316Q	probably damaging	Het
Uckl1	T	A	2: 181,574,655	Y136F	probably damaging	Het
Vmn1r28	G	A	6: 58,265,717	A182T	probably benign	Het
Vps39	A	G	2: 120,318,053	V870A	probably benign	Het
Zdhhc25	A	G	15: 88,600,909	D149G	probably benign	Het
Zfp648	C	T	1: 154,205,286	T397M	probably damaging	Het
Zic2	C	A	14: 122,478,957	T435K	probably damaging	Het

Other mutations in Jak2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00839:Jak2	APN	19	29301647	missense	probably damaging	1.00
IGL00951:Jak2	APN	19	29299583	missense	probably damaging	1.00
IGL01300:Jak2	APN	19	29309683	missense	probably damaging	1.00
IGL01800:Jak2	APN	19	29286293	splice site	probably benign
IGL02035:Jak2	APN	19	29286408	missense	probably benign	0.24
IGL02212:Jak2	APN	19	29287982	missense	probably benign	0.01
IGL02447:Jak2	APN	19	29299614	missense	probably damaging	1.00
R0158:Jak2	UTSW	19	29311757	missense	probably benign
R0217:Jak2	UTSW	19	29296650	critical splice donor site	probably null
R0308:Jak2	UTSW	19	29311757	missense	probably benign	0.15
R0344:Jak2	UTSW	19	29283629	missense	probably damaging	1.00
R0398:Jak2	UTSW	19	29282388	missense	possibly damaging	0.95
R0408:Jak2	UTSW	19	29286317	missense	probably benign	0.38
R0453:Jak2	UTSW	19	29311838	missense	probably benign	0.01
R0853:Jak2	UTSW	19	29284926	nonsense	probably null
R1180:Jak2	UTSW	19	29282499	missense	probably damaging	1.00
R1794:Jak2	UTSW	19	29299557	missense	probably benign	0.00
R2247:Jak2	UTSW	19	29283636	missense	probably benign	0.01
R3908:Jak2	UTSW	19	29291273	missense	probably damaging	1.00
R4705:Jak2	UTSW	19	29294915	missense	possibly damaging	0.82
R4744:Jak2	UTSW	19	29262256	missense	probably benign	0.02
R4814:Jak2	UTSW	19	29301977	missense	probably damaging	1.00
R4903:Jak2	UTSW	19	29275036	missense	probably benign	0.03
R5602:Jak2	UTSW	19	29298339	missense	probably benign	0.01
R5713:Jak2	UTSW	19	29271393	missense	probably damaging	0.96
R5740:Jak2	UTSW	19	29262424	missense	possibly damaging	0.81
R5758:Jak2	UTSW	19	29309643	missense	probably damaging	1.00
R5966:Jak2	UTSW	19	29283554	missense	possibly damaging	0.94
R6285:Jak2	UTSW	19	29295659	missense	probably benign	0.35
R6439:Jak2	UTSW	19	29309622	splice site	probably null
R6624:Jak2	UTSW	19	29282589	missense	probably damaging	0.99
R6649:Jak2	UTSW	19	29288710	missense	probably benign	0.00
R6653:Jak2	UTSW	19	29288710	missense	probably benign	0.00
R7084:Jak2	UTSW	19	29286398	missense	possibly damaging	0.78
R7180:Jak2	UTSW	19	29282411	missense	probably benign	0.01
R7261:Jak2	UTSW	19	29310985	missense	possibly damaging	0.82
R7488:Jak2	UTSW	19	29298383	missense	probably damaging	0.99
R7537:Jak2	UTSW	19	29298637	missense	probably benign	0.00
R7757:Jak2	UTSW	19	29283546	missense	probably benign
R7777:Jak2	UTSW	19	29276868	missense	probably benign	0.32
R8050:Jak2	UTSW	19	29298332	missense	probably damaging	0.98
R8345:Jak2	UTSW	19	29284870	missense	probably damaging	1.00
R8524:Jak2	UTSW	19	29295705	missense	probably damaging	0.99
R9003:Jak2	UTSW	19	29276840	missense	probably benign
R9128:Jak2	UTSW	19	29301062	missense	probably damaging	1.00
R9188:Jak2	UTSW	19	29310953	missense	probably damaging	0.97
R9197:Jak2	UTSW	19	29311757	missense	probably benign	0.15
R9369:Jak2	UTSW	19	29288803	critical splice donor site	probably null
R9430:Jak2	UTSW	19	29287967	missense	possibly damaging	0.89
X0058:Jak2	UTSW	19	29295711	missense	possibly damaging	0.91
Z1176:Jak2	UTSW	19	29271398	missense	possibly damaging	0.58

Predicted Primers

PCR Primer
(F):5'- ACTGTGTTGTCACCAAGAGAATGCC -3'
(R):5'- ACCACTGAATTCCACCGTTTCCAG -3'

Sequencing Primer
(F):5'- GAATGCCTATCAAATGAGAATGCC -3'
(R):5'- ATAATGGTTGCAAAAATCTCCTCACC -3'

Posted On

2013-05-09