Mutagenetix > Incidental Mutation

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

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0001 (G1)

Quality Score

182

Status

Validated

Chromosome

Chromosomal Location

29229228-29290480 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29259787 bp (GRCm39)

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
2900092C05Rik	T	A	7: 12,288,534 (GRCm39)		probably benign	Het
A4galt	A	G	15: 83,112,490 (GRCm39)	F98L	probably benign	Het
Abca4	T	G	3: 121,874,660 (GRCm39)		probably benign	Het
Acacb	C	T	5: 114,342,894 (GRCm39)		probably benign	Het
Agbl1	A	T	7: 76,069,611 (GRCm39)	H367L	probably damaging	Het
Apoa4	C	A	9: 46,154,190 (GRCm39)	Q264K	probably benign	Het
Camsap2	A	T	1: 136,210,626 (GRCm39)		probably benign	Het
Cdan1	C	A	2: 120,554,232 (GRCm39)	R939L	probably benign	Het
Ceacam18	G	A	7: 43,286,300 (GRCm39)	V58I	possibly damaging	Het
Ciita	A	T	16: 10,332,297 (GRCm39)		probably benign	Het
Clk4	T	A	11: 51,159,592 (GRCm39)		probably benign	Het
Cntnap2	T	C	6: 46,507,105 (GRCm39)	D215G	probably benign	Het
Col11a2	T	C	17: 34,280,586 (GRCm39)	S1218P	probably benign	Het
Col20a1	T	C	2: 180,626,205 (GRCm39)		probably benign	Het
Ctsb	A	G	14: 63,373,071 (GRCm39)	E76G	probably benign	Het
Ctu2	T	C	8: 123,205,659 (GRCm39)	C161R	probably benign	Het
Dhx29	T	C	13: 113,101,090 (GRCm39)	L1211P	probably damaging	Het
Dhx9	G	T	1: 153,338,382 (GRCm39)	T759K	probably damaging	Het
Dmxl1	T	C	18: 50,021,964 (GRCm39)		probably benign	Het
Dpysl3	C	T	18: 43,491,440 (GRCm39)	E226K	possibly damaging	Het
Eif2d	A	T	1: 131,095,864 (GRCm39)	K453*	probably null	Het
Epha7	T	C	4: 28,961,279 (GRCm39)		probably benign	Het
Fat3	T	C	9: 16,289,169 (GRCm39)	D118G	probably damaging	Het
Fhip2a	T	A	19: 57,370,188 (GRCm39)	H477Q	probably benign	Het
Foxn4	T	A	5: 114,398,931 (GRCm39)	Q159L	probably damaging	Het
Frs2	G	T	10: 116,910,781 (GRCm39)	H194N	possibly damaging	Het
Fut8	A	T	12: 77,522,089 (GRCm39)	*576L	probably null	Het
Galns	T	C	8: 123,322,622 (GRCm39)		probably benign	Het
Gamt	G	A	10: 80,094,895 (GRCm39)		probably benign	Het
Gpn1	T	A	5: 31,652,961 (GRCm39)		probably benign	Het
Ipcef1	G	T	10: 6,850,600 (GRCm39)	H330Q	probably damaging	Het
Itga4	A	C	2: 79,156,931 (GRCm39)	Y1024S	probably damaging	Het
Katnal1	A	G	5: 148,858,085 (GRCm39)	S42P	probably damaging	Het
Kcnu1	A	T	8: 26,349,298 (GRCm39)	D142V	probably damaging	Het
Lig3	C	T	11: 82,681,417 (GRCm39)	R470W	probably damaging	Het
Mgat4c	A	G	10: 102,224,817 (GRCm39)	S344G	probably benign	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Mipol1	C	T	12: 57,507,625 (GRCm39)		probably benign	Het
Mki67	C	T	7: 135,300,901 (GRCm39)	V1378M	probably damaging	Het
Mki67	T	A	7: 135,302,748 (GRCm39)	D762V	probably damaging	Het
Mmp9	A	G	2: 164,790,303 (GRCm39)	T43A	probably benign	Het
Muc6	T	C	7: 141,227,841 (GRCm39)	T1316A	possibly damaging	Het
Naip5	A	G	13: 100,351,158 (GRCm39)		probably null	Het
Naip5	C	A	13: 100,359,622 (GRCm39)	S538I	probably benign	Het
Nek3	A	T	8: 22,648,628 (GRCm39)		probably benign	Het
Nlrp1b	A	G	11: 71,052,585 (GRCm39)	S948P	probably damaging	Het
Nyap2	A	T	1: 81,169,822 (GRCm39)	H193L	probably benign	Het
Or52h1	T	A	7: 103,828,680 (GRCm39)	K312*	probably null	Het
Or9s23	A	G	1: 92,501,183 (GRCm39)	K97E	possibly damaging	Het
Patl2	G	A	2: 121,956,191 (GRCm39)		probably benign	Het
Pcdhb11	A	T	18: 37,557,042 (GRCm39)	R791W	probably benign	Het
Pkd1l3	C	A	8: 110,355,265 (GRCm39)		probably benign	Het
Pkn2	A	T	3: 142,534,749 (GRCm39)	V73D	probably benign	Het
Pknox1	A	T	17: 31,818,610 (GRCm39)	H281L	probably damaging	Het
Polr3a	A	G	14: 24,502,257 (GRCm39)		probably benign	Het
Prss38	A	G	11: 59,264,006 (GRCm39)		probably benign	Het
Rad54l2	A	G	9: 106,585,416 (GRCm39)	F783S	probably damaging	Het
Rbm5	T	C	9: 107,619,623 (GRCm39)	R125G	probably damaging	Het
Rnpep	A	G	1: 135,200,223 (GRCm39)		probably benign	Het
Slc1a5	T	A	7: 16,527,562 (GRCm39)		probably null	Het
Slc22a4	G	A	11: 53,918,829 (GRCm39)		probably benign	Het
Spink12	T	C	18: 44,240,763 (GRCm39)	C50R	probably damaging	Het
Spmip5	G	A	19: 58,777,603 (GRCm39)	A61V	probably damaging	Het
Svep1	G	A	4: 58,066,460 (GRCm39)	T3208I	possibly damaging	Het
Tgm5	G	T	2: 120,908,127 (GRCm39)	D16E	probably damaging	Het
Tpp2	A	G	1: 44,010,886 (GRCm39)	N558D	probably benign	Het
Trappc9	A	T	15: 72,835,511 (GRCm39)	L507Q	probably damaging	Het
Trpm3	A	T	19: 22,692,695 (GRCm39)	Q262L	possibly damaging	Het
Ttn	A	G	2: 76,607,316 (GRCm39)		probably benign	Het
Ttn	G	A	2: 76,662,433 (GRCm39)		probably benign	Het
Ubr4	T	A	4: 139,179,099 (GRCm39)	L3316Q	probably damaging	Het
Uckl1	T	A	2: 181,216,448 (GRCm39)	Y136F	probably damaging	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Vps39	A	G	2: 120,148,534 (GRCm39)	V870A	probably benign	Het
Zdhhc25	A	G	15: 88,485,112 (GRCm39)	D149G	probably benign	Het
Zfp648	C	T	1: 154,081,032 (GRCm39)	T397M	probably damaging	Het
Zic2	C	A	14: 122,716,369 (GRCm39)	T435K	probably 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
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
R2247:Jak2	UTSW	19	29,261,036 (GRCm39)	missense	probably benign	0.01
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'- ACTGTGTTGTCACCAAGAGAATGCC -3'
(R):5'- ACCACTGAATTCCACCGTTTCCAG -3'

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

Posted On

2013-05-09