Mutagenetix > Incidental Mutation

Incidental Mutation 'R0836:Dyrk2'

77932

Institutional Source

Beutler Lab

Gene Symbol

Dyrk2

Ensembl Gene

ENSMUSG00000028630

Gene Name

dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2

Synonyms

1810038L18Rik

MMRRC Submission

039015-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.497) question?

Stock #

R0836 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118855603-118870209 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118861122 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 77 (H77R)

Ref Sequence

ENSEMBL: ENSMUSP00000004281 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004281]

AlphaFold

Q5U4C9

Predicted Effect

probably benign
Transcript: ENSMUST00000004281
AA Change: H77R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000004281
Gene: ENSMUSG00000028630
AA Change: H77R

Domain	Start	End	E-Value	Type
S_TKc	220	533	1.16e-92	SMART
low complexity region	560	574	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000059966
AA Change: V95A

SMART Domains

Protein: ENSMUSP00000062354
Gene: ENSMUSG00000050709
AA Change: V95A

Domain	Start	End	E-Value	Type
low complexity region	8	24	N/A	INTRINSIC
low complexity region	89	96	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191892

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218477

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218692

Meta Mutation Damage Score

0.1576

Coding Region Coverage

1x: 99.6%
3x: 98.9%
10x: 96.9%
20x: 92.2%

Validation Efficiency

100% (102/102)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DYRK2 belongs to a family of protein kinases whose members are presumed to be involved in cellular growth and/or development. The family is defined by structural similarity of their kinase domains and their capability to autophosphorylate on tyrosine residues. DYRK2 has demonstrated tyrosine autophosphorylation and catalyzed phosphorylation of histones H3 and H2B in vitro. Two isoforms of DYRK2 have been isolated. The predominant isoform, isoform 1, lacks a 5' terminal insert. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082I17Rik	A	G	5: 139,364,120	V58A	possibly damaging	Het
4932415M13Rik	A	T	17: 53,724,346		noncoding transcript	Het
A930003A15Rik	T	C	16: 19,883,872		noncoding transcript	Het
Abca8a	A	T	11: 110,040,564	D1253E	possibly damaging	Het
Acsm3	T	C	7: 119,777,100	I350T	possibly damaging	Het
Adcy9	T	C	16: 4,419,271	D92G	possibly damaging	Het
Aldh9a1	G	A	1: 167,350,255	G7D	probably benign	Het
Alg14	A	G	3: 121,298,610	H34R	probably damaging	Het
Ankrd27	A	G	7: 35,608,347	N337S	probably damaging	Het
Apoa2	T	A	1: 171,225,379		probably benign	Het
Asphd2	A	T	5: 112,391,769	L66H	probably damaging	Het
Astl	T	C	2: 127,342,419	F21L	probably benign	Het
Bptf	C	A	11: 107,110,812		probably null	Het
Cacna2d4	C	T	6: 119,307,286	R745W	probably damaging	Het
Cadps2	T	C	6: 23,328,776		probably benign	Het
Camk4	G	T	18: 32,939,454	S20I	unknown	Het
Ccdc36	A	T	9: 108,404,801	C563S	probably benign	Het
Ccdc85a	T	A	11: 28,583,296	I83F	probably damaging	Het
Ccnt2	T	A	1: 127,802,394	M336K	probably benign	Het
Cd209e	G	T	8: 3,853,205	D62E	probably benign	Het
Ces1f	A	T	8: 93,270,024	S214T	probably damaging	Het
Cfap43	C	A	19: 47,815,846	V304L	probably benign	Het
Col26a1	A	G	5: 136,765,300		probably null	Het
Cpa5	T	C	6: 30,623,211	S124P	probably damaging	Het
Crtc1	A	G	8: 70,393,013	V306A	probably benign	Het
D130043K22Rik	G	A	13: 24,863,580		probably benign	Het
D17H6S53E	A	T	17: 35,127,409		probably null	Het
D17Wsu92e	A	T	17: 27,786,138	S148R	probably damaging	Het
Dmxl1	T	C	18: 49,833,148	V20A	probably damaging	Het
Dnah11	G	A	12: 118,196,662	A111V	probably benign	Het
E330017A01Rik	G	A	16: 58,635,523	S129L	probably damaging	Het
Epha3	A	G	16: 63,603,519		probably benign	Het
Epn2	T	C	11: 61,519,491	N611S	probably benign	Het
Erich6	A	C	3: 58,618,944		probably benign	Het
Fam217b	T	C	2: 178,420,989	S249P	probably benign	Het
Fezf1	T	C	6: 23,246,999	H278R	probably benign	Het
Fhod3	T	A	18: 25,066,218	Y649N	probably damaging	Het
Gm5155	C	A	7: 17,904,981	A301E	possibly damaging	Het
Gm597	A	G	1: 28,777,821	S377P	possibly damaging	Het
Grap	T	A	11: 61,660,239	D32E	possibly damaging	Het
Hipk1	A	G	3: 103,754,296	S670P	probably damaging	Het
Itga2	A	G	13: 114,856,679	V800A	probably damaging	Het
Itgae	A	T	11: 73,129,206	M845L	probably benign	Het
Itgb5	A	G	16: 33,900,583	K339R	probably damaging	Het
Itpka	T	A	2: 119,750,831	N448K	probably damaging	Het
Jak3	A	C	8: 71,683,978	N643T	probably damaging	Het
Kcnd2	T	C	6: 21,726,239		probably benign	Het
Kcnd2	T	A	6: 21,727,329	V627E	probably damaging	Het
Ktn1	A	G	14: 47,701,062		probably null	Het
Lamp1	T	A	8: 13,172,654	F279L	probably damaging	Het
Macf1	A	G	4: 123,494,882		probably null	Het
Mark2	A	G	19: 7,285,824	Y193H	probably damaging	Het
Mcrs1	T	C	15: 99,243,449		probably benign	Het
Mtnr1a	A	T	8: 45,087,937	I312F	probably benign	Het
Myom2	A	T	8: 15,132,924	K1454*	probably null	Het
Nfkbia	C	A	12: 55,490,776	A211S	probably damaging	Het
Olfr504	T	C	7: 108,564,998	T266A	possibly damaging	Het
Olfr629	T	C	7: 103,740,925	H105R	probably damaging	Het
Olfr905	A	T	9: 38,472,785	I13F	probably benign	Het
Otog	C	T	7: 46,269,362	T954I	possibly damaging	Het
Phlpp2	A	G	8: 109,937,106	T926A	probably damaging	Het
Plec	GGCAGCAG	GGCAGCAGCAG	15: 76,181,907		probably benign	Het
Plekha5	T	A	6: 140,589,634		probably benign	Het
Pmch	A	G	10: 88,091,224	I30V	probably benign	Het
Ppat	A	C	5: 76,922,501	Y157D	probably benign	Het
Ppp1r16a	C	T	15: 76,693,669	Q328*	probably null	Het
Rab27b	T	C	18: 69,987,041		probably benign	Het
Rapsn	T	C	2: 91,036,808	Y152H	probably damaging	Het
Rasd1	A	T	11: 59,964,553	F85I	probably damaging	Het
Rbp3	T	G	14: 33,956,638	S848A	possibly damaging	Het
Rgs1	A	T	1: 144,247,933	S85T	probably damaging	Het
Rictor	A	G	15: 6,764,278		probably null	Het
Rims1	T	C	1: 22,427,459		probably null	Het
Shc1	A	G	3: 89,422,969	D70G	probably damaging	Het
Slc22a28	T	C	19: 8,116,833	Y245C	possibly damaging	Het
Slc25a1	T	A	16: 17,927,436	H78L	probably benign	Het
Slc30a7	T	A	3: 115,990,140		probably null	Het
Slc34a2	A	G	5: 53,067,707	T397A	probably benign	Het
Slc51a	T	A	16: 32,475,849	T306S	probably benign	Het
Sorcs3	G	A	19: 48,487,394	V231I	probably benign	Het
Sp100	A	T	1: 85,699,744	I86L	probably damaging	Het
Stard9	T	G	2: 120,696,999	S1246A	possibly damaging	Het
Stxbp5	A	T	10: 9,865,099	S116R	probably damaging	Het
Tas2r105	T	C	6: 131,687,430	I12V	probably benign	Het
Tas2r121	A	G	6: 132,700,362	S216P	probably damaging	Het
Tax1bp1	C	T	6: 52,741,940		probably benign	Het
Tcof1	T	C	18: 60,845,832	D48G	probably damaging	Het
Tex24	A	T	8: 27,344,720	H92L	possibly damaging	Het
Tgm3	C	T	2: 130,026,682		probably benign	Het
Thbs4	T	G	13: 92,758,038	D659A	probably damaging	Het
Tmed11	A	T	5: 108,795,309	M1K	probably null	Het
Tmpo	A	T	10: 91,161,953	C657*	probably null	Het
Unc5a	C	A	13: 55,003,933	N56K	possibly damaging	Het
Urb1	T	C	16: 90,795,448	D308G	possibly damaging	Het
Vav3	A	G	3: 109,647,679	N81S	possibly damaging	Het
Vmn2r108	A	T	17: 20,471,459	D267E	probably benign	Het
Vmn2r17	A	T	5: 109,427,956	H231L	possibly damaging	Het
Wrn	A	G	8: 33,295,006	I446T	possibly damaging	Het
Zfp266	G	A	9: 20,499,799	H361Y	probably damaging	Het

Other mutations in Dyrk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00392:Dyrk2	APN	10	118859844	missense	probably damaging	1.00
IGL00536:Dyrk2	APN	10	118860192	missense	probably damaging	1.00
IGL01288:Dyrk2	APN	10	118860699	missense	probably damaging	1.00
IGL01375:Dyrk2	APN	10	118860687	missense	probably damaging	1.00
IGL01637:Dyrk2	APN	10	118860507	missense	probably damaging	1.00
IGL02052:Dyrk2	APN	10	118860543	missense	probably damaging	1.00
R0452:Dyrk2	UTSW	10	118868763	missense	possibly damaging	0.91
R0833:Dyrk2	UTSW	10	118861122	missense	probably benign	0.00
R1346:Dyrk2	UTSW	10	118859719	missense	possibly damaging	0.92
R1610:Dyrk2	UTSW	10	118859925	missense	probably benign	0.02
R2397:Dyrk2	UTSW	10	118861368	intron	probably benign
R2409:Dyrk2	UTSW	10	118860627	missense	probably benign
R2965:Dyrk2	UTSW	10	118860337	nonsense	probably null
R2966:Dyrk2	UTSW	10	118860337	nonsense	probably null
R4700:Dyrk2	UTSW	10	118868286	missense	probably benign
R4896:Dyrk2	UTSW	10	118868248	missense	probably damaging	0.96
R4978:Dyrk2	UTSW	10	118860347	missense	probably benign	0.00
R5393:Dyrk2	UTSW	10	118859848	missense	probably damaging	0.98
R5442:Dyrk2	UTSW	10	118860738	missense	possibly damaging	0.72
R5496:Dyrk2	UTSW	10	118860051	missense	probably damaging	1.00
R5810:Dyrk2	UTSW	10	118860340	missense	probably benign	0.16
R5875:Dyrk2	UTSW	10	118860697	missense	probably damaging	1.00
R5930:Dyrk2	UTSW	10	118860268	missense	probably damaging	1.00
R6877:Dyrk2	UTSW	10	118860423	missense	probably damaging	1.00
R7234:Dyrk2	UTSW	10	118860231	missense	possibly damaging	0.84
R7442:Dyrk2	UTSW	10	118859881	missense	probably damaging	1.00
R7741:Dyrk2	UTSW	10	118859689	missense	probably benign
R8108:Dyrk2	UTSW	10	118859829	missense	probably benign	0.27
R8137:Dyrk2	UTSW	10	118859884	missense	probably benign	0.00
R8347:Dyrk2	UTSW	10	118859983	missense	probably damaging	0.99
R8507:Dyrk2	UTSW	10	118860662	missense	probably damaging	1.00
R8517:Dyrk2	UTSW	10	118861021	missense	probably benign
R8695:Dyrk2	UTSW	10	118861017	missense	probably benign	0.00
R9018:Dyrk2	UTSW	10	118860109	missense	probably damaging	0.99
R9619:Dyrk2	UTSW	10	118860387	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGTCGTCGTCATAACCACCATTG -3'
(R):5'- CGCTTGATCCTTGCTCCAGGAAAAC -3'

Sequencing Primer
(F):5'- GTCATAACCACCATTGTTGGG -3'
(R):5'- CGGCTTCCATGTTGTAAAACCAG -3'

Posted On

2013-10-16