Mutagenetix > Incidental Mutation

Incidental Mutation 'R7757:Jak2'

597650

Institutional Source

Beutler Lab

Gene Symbol

Jak2

Ensembl Gene

ENSMUSG00000024789

Gene Name

Janus kinase 2

Synonyms

C81284

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7757 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29251828-29313080 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29283546 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 314 (V314A)

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: V314A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000025705
Gene: ENSMUSG00000024789
AA Change: V314A

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: V314A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000064394
Gene: ENSMUSG00000024789
AA Change: V314A

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: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

96% (70/73)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	A	T	15: 8,252,227	E2850V	unknown	Het
2700049A03Rik	G	A	12: 71,189,413	M1179I	probably benign	Het
6430550D23Rik	T	C	2: 156,003,431	T18A	possibly damaging	Het
Acox2	T	C	14: 8,230,166	N659S	probably damaging	Het
Agk	T	C	6: 40,376,278	V192A	possibly damaging	Het
Ap3b1	T	A	13: 94,528,158		probably null	Het
Bche	T	A	3: 73,701,121	D324V	probably damaging	Het
Bsn	A	G	9: 108,114,740	I1271T	possibly damaging	Het
Capn12	T	C	7: 28,882,821	L120P	probably damaging	Het
Cep290	T	A	10: 100,563,434	S2273T	probably benign	Het
Ckap4	T	C	10: 84,528,467	E244G	probably damaging	Het
Clcn7	T	C	17: 25,156,822	Y545H	probably damaging	Het
Cmya5	T	A	13: 93,098,272	T103S	possibly damaging	Het
Cpne9	G	A	6: 113,284,445	V121M	possibly damaging	Het
Csmd2	T	A	4: 128,483,456	I2043N		Het
Disc1	A	G	8: 125,087,504	T36A	probably benign	Het
Disp2	T	C	2: 118,790,910	Y708H	probably damaging	Het
Dnah3	A	G	7: 120,071,570	V635A	probably benign	Het
Dnah3	A	T	7: 119,971,215		probably null	Het
Dync1li1	A	G	9: 114,709,277	H234R	possibly damaging	Het
Egfr	T	C	11: 16,889,966	V660A	possibly damaging	Het
Epb42	T	C	2: 121,027,719	R253G	possibly damaging	Het
Fat2	T	A	11: 55,311,421	T276S	probably benign	Het
Fcho2	A	G	13: 98,764,503		probably null	Het
Ginm1	A	T	10: 7,779,355	I41N	probably damaging	Het
Gm4744	A	G	6: 40,950,433		probably benign	Het
Gm49368	C	T	7: 128,112,226	R701C	probably damaging	Het
Gpr37	T	A	6: 25,688,208	I297F	probably benign	Het
Gprc5a	T	A	6: 135,079,344	I263N	possibly damaging	Het
Gys2	A	T	6: 142,454,451	S345T	probably benign	Het
Hk2	T	C	6: 82,742,915	M255V	possibly damaging	Het
Ibtk	A	C	9: 85,697,237	S1202A	possibly damaging	Het
Il23r	T	G	6: 67,423,981	D455A	probably benign	Het
Irs2	T	A	8: 11,006,522	K637*	probably null	Het
Mei1	C	T	15: 82,082,623		probably benign	Het
Mill1	T	C	7: 18,262,466	M69T	probably benign	Het
Mms22l	T	C	4: 24,598,884		probably null	Het
Mup8	C	A	4: 60,220,332	Q133H	probably benign	Het
Mup8	T	A	4: 60,220,333	Q133L	probably benign	Het
Mycbp2	A	T	14: 103,191,619	Y2374N	probably damaging	Het
Nbeal1	A	T	1: 60,257,450	K1166N	probably damaging	Het
Nlrc4	T	A	17: 74,448,196	R8S	probably benign	Het
Nrcam	C	T	12: 44,549,898	Q25*	probably null	Het
Nudt16	A	C	9: 105,131,561	M47R	probably damaging	Het
Nup62	T	C	7: 44,828,995	S145P	probably benign	Het
Olfr1222	T	C	2: 89,124,989	I247M	possibly damaging	Het
Olfr959	A	G	9: 39,572,465	W265R	probably benign	Het
Osbpl1a	A	T	18: 12,933,600	V34D	probably benign	Het
Otogl	T	A	10: 107,876,921	N521Y	probably damaging	Het
Pcdhb14	T	A	18: 37,449,834	D664E	possibly damaging	Het
Pex5l	T	C	3: 33,082,151		probably benign	Het
Pkhd1	A	G	1: 20,562,415	L592P	probably damaging	Het
Plxdc2	A	G	2: 16,729,376	H480R	probably benign	Het
Rnf216	T	A	5: 143,080,236	K532N	probably damaging	Het
Schip1	C	A	3: 68,617,695	Q358K	probably damaging	Het
Sdc2	A	T	15: 33,028,087	E117V	possibly damaging	Het
Sept11	A	T	5: 93,171,464		probably null	Het
Shprh	A	T	10: 11,162,180	E420V	probably benign	Het
Ska1	T	A	18: 74,196,973	H232L	probably benign	Het
Slc36a4	A	G	9: 15,719,660	N25S	possibly damaging	Het
Slitrk3	G	A	3: 73,050,839	T200M	probably damaging	Het
Smad2	C	T	18: 76,288,013	H138Y	probably benign	Het
Snx21	T	C	2: 164,786,165	S34P	probably damaging	Het
Sos2	A	G	12: 69,648,585	V126A	probably damaging	Het
Srcap	C	T	7: 127,530,794	T596I	probably damaging	Het
Stk31	T	G	6: 49,406,943		probably null	Het
Stox1	T	C	10: 62,663,964	D939G	probably damaging	Het
Syne2	G	T	12: 76,061,779	C979F	possibly damaging	Het
Tanc2	C	A	11: 105,776,858	N88K	possibly damaging	Het
Tll2	A	T	19: 41,096,008	V677E	probably damaging	Het
Ttn	T	C	2: 76,918,490	T4072A	probably benign	Het
Unc13b	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	4: 43,177,312		probably benign	Het
Unc13b	AGAGCC	AGAGCCCGAGCC	4: 43,177,330		probably benign	Het
Unc13b	CAGAGC	CAGAGCGAGAGC	4: 43,177,341		probably benign	Het
Vmn2r43	A	T	7: 8,255,254	F320Y	possibly damaging	Het
Zscan4f	G	T	7: 11,401,278	G204*	probably null	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
R0001:Jak2	UTSW	19	29282387	missense	probably benign	0.01
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
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
R9704:Jak2	UTSW	19	29298330	nonsense	probably null
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'- GGTTAAGTTCTGTATCACACTGTC -3'
(R):5'- GCACTCTTTAGAGCATACTTACGG -3'

Sequencing Primer
(F):5'- CATTACAGATGGTTGTGAGCCACC -3'
(R):5'- ACCATCTTGTTTATGGACAG -3'

Posted On

2019-11-26