Mutagenetix > Incidental Mutation

Incidental Mutation 'R1995:Hipk2'

225674

Institutional Source

Beutler Lab

Gene Symbol

Hipk2

Ensembl Gene

ENSMUSG00000061436

Gene Name

homeodomain interacting protein kinase 2

Synonyms

1110014O20Rik, Stank, B230339E18Rik

MMRRC Submission

040005-MU

Accession Numbers

Ncbi RefSeq: NM_001136065.1, NM_010433.2; MGI: 1314872

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R1995 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

38694390-38876165 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 38715974 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 868 (D868Y)

Ref Sequence

ENSEMBL: ENSMUSP00000125150 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000160360] [ENSMUST00000160962] [ENSMUST00000161779] [ENSMUST00000162359]

AlphaFold

Q9QZR5

Predicted Effect

probably damaging
Transcript: ENSMUST00000160360
AA Change: D867Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125500
Gene: ENSMUSG00000061436
AA Change: D867Y

Domain	Start	End	E-Value	Type
low complexity region	94	104	N/A	INTRINSIC
low complexity region	156	180	N/A	INTRINSIC
S_TKc	199	527	3.05e-78	SMART
low complexity region	895	909	N/A	INTRINSIC
low complexity region	963	992	N/A	INTRINSIC
low complexity region	998	1018	N/A	INTRINSIC
low complexity region	1057	1072	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000160962
AA Change: D860Y

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000125572
Gene: ENSMUSG00000061436
AA Change: D860Y

Domain	Start	End	E-Value	Type
low complexity region	87	97	N/A	INTRINSIC
low complexity region	149	173	N/A	INTRINSIC
S_TKc	192	520	3.05e-78	SMART
low complexity region	888	902	N/A	INTRINSIC
low complexity region	956	985	N/A	INTRINSIC
low complexity region	991	1011	N/A	INTRINSIC
low complexity region	1050	1065	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000161779
AA Change: D895Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124133
Gene: ENSMUSG00000061436
AA Change: D895Y

Domain	Start	End	E-Value	Type
low complexity region	94	104	N/A	INTRINSIC
low complexity region	156	180	N/A	INTRINSIC
S_TKc	199	527	3.05e-78	SMART
low complexity region	923	937	N/A	INTRINSIC
low complexity region	991	1020	N/A	INTRINSIC
low complexity region	1026	1046	N/A	INTRINSIC
low complexity region	1085	1100	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000162359
AA Change: D868Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125150
Gene: ENSMUSG00000061436
AA Change: D868Y

Domain	Start	End	E-Value	Type
low complexity region	94	104	N/A	INTRINSIC
low complexity region	156	180	N/A	INTRINSIC
S_TKc	199	527	3.05e-78	SMART
low complexity region	896	910	N/A	INTRINSIC
low complexity region	964	993	N/A	INTRINSIC
low complexity region	999	1019	N/A	INTRINSIC
low complexity region	1058	1073	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

MGI Phenotype

Strain: 3624127; 3487301; 4429497
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a conserved serine/threonine kinase that is a member of the homeodomain-interacting protein kinase family. The encoded protein interacts with homeodomain transcription factors and many other transcription factors such as p53, and can function as both a corepressor and a coactivator depending on the transcription factor and its subcellular localization. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Homozygous null mice display decreased apoptosis and increased neuron numbers in the trigeminal ganglion. [provided by MGI curators]

Allele List at MGI

All alleles(10) : Targeted(7) Gene trapped(3)

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtpbp1	T	G	13: 59,531,058	K145N	probably damaging	Het
AY358078	T	A	14: 51,826,062	D388E	probably damaging	Het
Btbd9	A	G	17: 30,274,930	Y496H	possibly damaging	Het
Catsperb	T	A	12: 101,602,767	N899K	possibly damaging	Het
Ccdc129	T	C	6: 55,968,709	I805T	probably benign	Het
Cenpl	T	C	1: 161,078,424	S123P	probably damaging	Het
Cep120	G	A	18: 53,740,136	T41I	probably damaging	Het
Cep295	C	T	9: 15,340,883	E397K	probably damaging	Het
Cnbd1	G	A	4: 19,055,112	P105S	possibly damaging	Het
Col6a1	T	C	10: 76,721,956	N149D	probably damaging	Het
Ctnna3	T	A	10: 63,820,364	V241D	probably damaging	Het
Dcbld2	A	C	16: 58,456,332	E495D	probably benign	Het
Dmp1	T	G	5: 104,209,913	S40A	possibly damaging	Het
Dpysl4	A	G	7: 139,096,770	I379V	probably benign	Het
Eral1	C	T	11: 78,074,489	G367S	probably benign	Het
Fah	C	T	7: 84,602,181	R31Q	probably damaging	Het
Fbn1	T	A	2: 125,350,373		probably null	Het
Fbxo40	T	C	16: 36,969,869	D293G	probably damaging	Het
Gemin6	A	C	17: 80,227,985	T125P	probably damaging	Het
Gpbar1	G	A	1: 74,279,444	G282D	possibly damaging	Het
Gria2	G	A	3: 80,802,357	L10F	probably benign	Het
Gucy1b1	A	G	3: 82,034,853	I533T	probably damaging	Het
H2-M9	A	T	17: 36,641,786	Y123N	probably damaging	Het
Jarid2	T	C	13: 44,874,441	L123P	probably damaging	Het
Kcnb2	C	A	1: 15,709,766	N287K	possibly damaging	Het
Kdm8	G	A	7: 125,452,339	G35S	probably benign	Het
Kirrel	G	T	3: 87,095,786	A100D	possibly damaging	Het
Ltbp2	T	G	12: 84,808,446		probably null	Het
Mfsd12	C	A	10: 81,357,681	H28Q	probably damaging	Het
Neb	C	T	2: 52,298,732	V837M	probably damaging	Het
Nkain2	A	G	10: 32,402,351	I26T	possibly damaging	Het
Nuggc	A	G	14: 65,611,174	R175G	probably benign	Het
Olfr1122	T	G	2: 87,387,831	I42R	probably damaging	Het
Olfr1161	T	A	2: 88,025,672	S317T	probably benign	Het
Olfr205	A	G	16: 59,329,291	S73P	probably damaging	Het
Olfr965	T	C	9: 39,719,413	F62S	probably damaging	Het
Pcnt	G	A	10: 76,392,799	Q1511*	probably null	Het
Piezo2	G	T	18: 63,078,781	T1311K	probably damaging	Het
Pik3c2a	T	C	7: 116,354,006	Y1218C	probably damaging	Het
Pik3r4	T	A	9: 105,669,165	S905T	probably benign	Het
Pikfyve	T	A	1: 65,246,708	D1035E	probably damaging	Het
Pkn3	G	C	2: 30,089,977	G744A	probably damaging	Het
Pms1	A	G	1: 53,195,015	S781P	probably benign	Het
Pogz	C	T	3: 94,877,944	R793W	probably damaging	Het
Prrc2a	A	T	17: 35,157,429	V795D	probably damaging	Het
Rock1	G	A	18: 10,101,026	R630*	probably null	Het
Scd4	T	A	19: 44,334,178	I70N	possibly damaging	Het
Serpine2	A	G	1: 79,821,442	S32P	probably damaging	Het
Slc9c1	A	C	16: 45,554,255	T328P	probably damaging	Het
Spata31d1b	G	C	13: 59,716,380	L447F	probably benign	Het
Speer2	A	G	16: 69,858,077	S167P	probably benign	Het
Sphkap	G	A	1: 83,277,515	R838*	probably null	Het
Tbcel	C	A	9: 42,451,661	G29W	probably damaging	Het
Tmcc3	T	C	10: 94,578,606	S57P	possibly damaging	Het
Tmem240	T	A	4: 155,739,847	D125E	possibly damaging	Het
Ttll7	G	A	3: 146,961,755	C792Y	possibly damaging	Het
Vmn1r177	T	A	7: 23,865,687	I255F	probably damaging	Het
Zp2	T	A	7: 120,135,165	I554F	probably damaging	Het

Other mutations in Hipk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00582:Hipk2	APN	6	38819322	splice site	probably benign
IGL00814:Hipk2	APN	6	38818549	missense	probably damaging	1.00
IGL00907:Hipk2	APN	6	38818273	missense	probably damaging	1.00
IGL01350:Hipk2	APN	6	38818315	missense	probably damaging	1.00
IGL01714:Hipk2	APN	6	38819182	missense	probably damaging	1.00
IGL01893:Hipk2	APN	6	38818395	missense	probably benign	0.05
IGL02028:Hipk2	APN	6	38818756	missense	possibly damaging	0.67
IGL02133:Hipk2	APN	6	38819134	missense	probably benign
IGL02135:Hipk2	APN	6	38818999	missense	possibly damaging	0.90
IGL02543:Hipk2	APN	6	38703501	missense	possibly damaging	0.95
IGL02630:Hipk2	APN	6	38818521	missense	possibly damaging	0.48
IGL02896:Hipk2	APN	6	38698447	missense	probably damaging	1.00
IGL02900:Hipk2	APN	6	38729944	missense	probably damaging	0.96
IGL03345:Hipk2	APN	6	38748002	splice site	probably benign
R0070:Hipk2	UTSW	6	38818984	nonsense	probably null
R0070:Hipk2	UTSW	6	38818984	nonsense	probably null
R0092:Hipk2	UTSW	6	38743229	missense	probably damaging	0.97
R0184:Hipk2	UTSW	6	38718931	missense	possibly damaging	0.77
R0494:Hipk2	UTSW	6	38729989	missense	probably benign	0.03
R0617:Hipk2	UTSW	6	38747485	missense	possibly damaging	0.70
R0720:Hipk2	UTSW	6	38698556	missense	probably damaging	1.00
R1812:Hipk2	UTSW	6	38698163	missense	probably benign	0.14
R1864:Hipk2	UTSW	6	38718935	critical splice acceptor site	probably null
R1919:Hipk2	UTSW	6	38818984	nonsense	probably null
R2079:Hipk2	UTSW	6	38818785	missense	probably damaging	1.00
R2238:Hipk2	UTSW	6	38729915	splice site	probably benign
R2384:Hipk2	UTSW	6	38818371	missense	probably damaging	0.99
R3775:Hipk2	UTSW	6	38743094	missense	probably damaging	0.99
R3792:Hipk2	UTSW	6	38698556	missense	probably damaging	1.00
R3841:Hipk2	UTSW	6	38818926	missense	probably damaging	1.00
R3883:Hipk2	UTSW	6	38699265	missense	probably damaging	1.00
R4471:Hipk2	UTSW	6	38736922	intron	probably benign
R4724:Hipk2	UTSW	6	38698392	missense	probably benign	0.10
R4838:Hipk2	UTSW	6	38818404	missense	possibly damaging	0.94
R4843:Hipk2	UTSW	6	38819257	missense	possibly damaging	0.94
R5040:Hipk2	UTSW	6	38730881	missense	possibly damaging	0.82
R5044:Hipk2	UTSW	6	38818879	missense	probably benign	0.06
R5320:Hipk2	UTSW	6	38818277	missense	probably damaging	1.00
R5409:Hipk2	UTSW	6	38730042	missense	probably damaging	1.00
R5682:Hipk2	UTSW	6	38737473	missense	possibly damaging	0.50
R5695:Hipk2	UTSW	6	38818875	missense	possibly damaging	0.64
R5876:Hipk2	UTSW	6	38730867	critical splice donor site	probably null
R6309:Hipk2	UTSW	6	38698511	missense	probably damaging	1.00
R6612:Hipk2	UTSW	6	38818873	missense	probably benign	0.04
R6815:Hipk2	UTSW	6	38818842	missense	probably damaging	1.00
R7104:Hipk2	UTSW	6	38818644	missense	probably damaging	0.98
R7124:Hipk2	UTSW	6	38818478	nonsense	probably null
R7238:Hipk2	UTSW	6	38716057	missense	probably benign	0.45
R7712:Hipk2	UTSW	6	38703634	missense	probably benign	0.02
R7994:Hipk2	UTSW	6	38818468	missense	possibly damaging	0.94
R8190:Hipk2	UTSW	6	38818793	missense	possibly damaging	0.88
R8388:Hipk2	UTSW	6	38745695	missense	probably damaging	1.00
R8796:Hipk2	UTSW	6	38698223	missense	probably damaging	0.99
R9041:Hipk2	UTSW	6	38747974	nonsense	probably null
R9388:Hipk2	UTSW	6	38731021	missense	probably damaging	1.00
R9480:Hipk2	UTSW	6	38703442	missense	probably benign	0.37
R9485:Hipk2	UTSW	6	38703510	missense	possibly damaging	0.94
R9562:Hipk2	UTSW	6	38747455	missense	probably damaging	0.99
R9565:Hipk2	UTSW	6	38747455	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGTTAAAACTAAGCTGGGACTGGG -3'
(R):5'- AGCGTGTCAAGGAGAACACTC -3'

Sequencing Primer
(F):5'- ACTGGGAGCCTAGTTTTTATAGTCTC -3'
(R):5'- GAGAACACTCCCCCACGGTG -3'

Posted On

2014-08-25