Mutagenetix > Incidental Mutation

Incidental Mutation 'R7180:Jak2'

558952

Institutional Source

Beutler Lab

Gene Symbol

Jak2

Ensembl Gene

ENSMUSG00000024789

Gene Name

Janus kinase 2

Synonyms

C81284

MMRRC Submission

045233-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7180 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29229228-29290480 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29259811 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 237 (I237V)

Ref Sequence

ENSEMBL: ENSMUSP00000025705 (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: I237V

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000025705
Gene: ENSMUSG00000024789
AA Change: I237V

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: I237V

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000064394
Gene: ENSMUSG00000024789
AA Change: I237V

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

99% (80/81)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acnat2	A	C	4: 49,381,803 (GRCm39)	Y196*	probably null	Het
Agrn	C	T	4: 156,256,296 (GRCm39)	R1405H	probably benign	Het
Agtpbp1	G	A	13: 59,613,852 (GRCm39)	H1030Y	probably benign	Het
Ankrd37	C	T	8: 46,452,891 (GRCm39)		probably benign	Het
Ap1g2	G	C	14: 55,341,908 (GRCm39)	P218R	probably damaging	Het
Ap2a1	C	T	7: 44,573,228 (GRCm39)		probably null	Het
Apc2	T	A	10: 80,146,990 (GRCm39)	D681E	possibly damaging	Het
Arhgef5	T	A	6: 43,252,142 (GRCm39)	N964K	possibly damaging	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
Ccnf	T	A	17: 24,442,889 (GRCm39)	M773L	probably benign	Het
Ces1e	A	C	8: 93,941,772 (GRCm39)	S234A	probably damaging	Het
Ces1g	T	A	8: 94,029,576 (GRCm39)	E552V	probably benign	Het
Ctcfl	A	T	2: 172,947,770 (GRCm39)		probably null	Het
Dkk2	T	A	3: 131,791,953 (GRCm39)	S54T	probably damaging	Het
Dll1	A	G	17: 15,595,131 (GRCm39)	S49P	probably benign	Het
Dscam	C	A	16: 96,626,764 (GRCm39)	A382S	probably damaging	Het
Eif4a3l1	T	A	6: 136,306,535 (GRCm39)	I332N	probably damaging	Het
Eif5b	A	T	1: 38,088,155 (GRCm39)	M1020L	probably damaging	Het
Elp1	A	T	4: 56,796,535 (GRCm39)	S118R	probably damaging	Het
Enpp4	T	C	17: 44,412,928 (GRCm39)	D202G	probably benign	Het
Eps8	A	T	6: 137,456,072 (GRCm39)	I803N	possibly damaging	Het
Etv2	C	A	7: 30,335,074 (GRCm39)	G28V	probably damaging	Het
Fadd	A	T	7: 144,134,522 (GRCm39)	V121E	probably damaging	Het
Fam149b	T	C	14: 20,431,853 (GRCm39)	Y545H	probably benign	Het
Fbxl21	A	T	13: 56,671,340 (GRCm39)	M1L	probably benign	Het
Flg2	T	C	3: 93,110,140 (GRCm39)	S723P	unknown	Het
Gm4884	C	T	7: 40,693,633 (GRCm39)	T534I	possibly damaging	Het
Gpbar1	A	T	1: 74,317,792 (GRCm39)	I12F	possibly damaging	Het
Gpr151	A	T	18: 42,712,021 (GRCm39)	L219*	probably null	Het
Hdgfl2	T	A	17: 56,404,532 (GRCm39)		probably null	Het
Hectd4	A	G	5: 121,446,405 (GRCm39)	M200V	probably benign	Het
Idua	A	G	5: 108,828,761 (GRCm39)	N335S	probably benign	Het
Ifit1bl1	A	T	19: 34,571,302 (GRCm39)	F385Y	probably damaging	Het
Ift172	T	C	5: 31,411,606 (GRCm39)	D1624G	probably damaging	Het
Igsf9b	A	T	9: 27,233,964 (GRCm39)	T388S	possibly damaging	Het
Insyn2b	A	G	11: 34,369,873 (GRCm39)	K526E	probably damaging	Het
Kat5	C	A	19: 5,653,989 (GRCm39)	K398N	probably damaging	Het
Lmbrd2	T	A	15: 9,175,283 (GRCm39)	V398E	possibly damaging	Het
Lrp1	T	C	10: 127,392,834 (GRCm39)	N2744D	probably damaging	Het
Lrrd1	T	C	5: 3,901,459 (GRCm39)	I588T	probably damaging	Het
Ltn1	A	G	16: 87,215,382 (GRCm39)	F418L	probably damaging	Het
Magi1	T	A	6: 93,792,731 (GRCm39)	D169V	probably benign	Het
Mpdz	T	C	4: 81,253,988 (GRCm39)	E1048G	probably damaging	Het
Myh9	T	C	15: 77,692,110 (GRCm39)	I150V	probably benign	Het
Nckap1	A	T	2: 80,337,236 (GRCm39)	M1006K	probably benign	Het
Nkain1	C	T	4: 130,533,925 (GRCm38)	V132I	probably benign	Het
Npy6r	A	T	18: 44,409,223 (GRCm39)	M215L	probably benign	Het
Nr3c2	A	T	8: 77,635,592 (GRCm39)	Q231L	probably damaging	Het
Obox5	C	T	7: 15,491,849 (GRCm39)	P88L	probably benign	Het
Or10a48	A	G	7: 108,425,186 (GRCm39)	S7P	probably damaging	Het
Or9k7	T	C	10: 130,046,811 (GRCm39)	T63A	probably benign	Het
P2rx7	A	G	5: 122,818,883 (GRCm39)	D435G	possibly damaging	Het
Pdzd2	T	A	15: 12,376,209 (GRCm39)	S1309C	probably damaging	Het
Pex5l	C	T	3: 33,078,840 (GRCm39)		probably null	Het
Pip	T	A	6: 41,824,565 (GRCm39)	C18S	probably damaging	Het
Pla2g7	C	T	17: 43,909,967 (GRCm39)	T157M	probably damaging	Het
Plce1	A	G	19: 38,768,229 (GRCm39)	Y2168C	probably damaging	Het
Rgs2	T	C	1: 143,877,886 (GRCm39)	T137A	probably benign	Het
Rpl32	T	A	6: 115,784,768 (GRCm39)	I31F	possibly damaging	Het
Ryr2	T	C	13: 11,701,864 (GRCm39)	Y2931C	probably damaging	Het
Slc4a4	G	A	5: 89,194,095 (GRCm39)	E192K	probably damaging	Het
Slc4a7	G	A	14: 14,765,580 (GRCm38)	A521T	probably damaging	Het
Smchd1	T	C	17: 71,701,818 (GRCm39)	E1058G	probably damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Ssc5d	A	G	7: 4,939,600 (GRCm39)	T679A	probably benign	Het
Tas2r130	A	C	6: 131,607,211 (GRCm39)	S195A	probably benign	Het
Tas2r135	C	T	6: 42,382,685 (GRCm39)	R75*	probably null	Het
Terf2ip	G	T	8: 112,738,052 (GRCm39)		probably benign	Het
Tm6sf2	G	A	8: 70,528,656 (GRCm39)	R136K	probably benign	Het
Tmprss15	A	G	16: 78,764,886 (GRCm39)	L858P	probably damaging	Het
Topaz1	A	G	9: 122,626,770 (GRCm39)	D1466G	possibly damaging	Het
Trip4	A	T	9: 65,764,627 (GRCm39)	L446Q	probably damaging	Het
Trpv3	G	T	11: 73,168,818 (GRCm39)	V93L	probably benign	Het
Ubl4b	A	T	3: 107,461,962 (GRCm39)	H99Q	probably damaging	Het
Unc45a	A	T	7: 79,979,569 (GRCm39)		probably null	Het
Vmn1r47	G	T	6: 89,999,335 (GRCm39)	A156S	probably damaging	Het
Vmn2r33	T	A	7: 7,566,896 (GRCm39)	H72L	probably benign	Het
Zeb1	G	A	18: 5,767,867 (GRCm39)	V793M	possibly damaging	Het
Zfp628	C	A	7: 4,924,063 (GRCm39)	Q762K	probably benign	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
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
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'- ATGTTGAACCCGCTTATTGTGG -3'
(R):5'- GGATTACCTGTTCTGTCAGTGTCTC -3'

Sequencing Primer
(F):5'- CCGCTTATTGTGGGAAAAGGC -3'
(R):5'- TTGACCACTGAATTCCACCG -3'

Posted On

2019-06-26