Mutagenetix > Incidental Mutation

Incidental Mutation 'R5044:Hipk2'

394252

Institutional Source

Beutler Lab

Gene Symbol

Hipk2

Ensembl Gene

ENSMUSG00000061436

Gene Name

homeodomain interacting protein kinase 2

Synonyms

1110014O20Rik, Stank, B230339E18Rik

MMRRC Submission

042634-MU

Accession Numbers

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

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R5044 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38694390-38876165 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 38818879 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 152 (P152S)

Ref Sequence

ENSEMBL: ENSMUSP00000125150 (fasta)

Gene Model

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

AlphaFold

Q9QZR5

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000114855

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159894

Predicted Effect

probably benign
Transcript: ENSMUST00000160360
AA Change: P152S

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000125500
Gene: ENSMUSG00000061436
AA Change: P152S

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 benign
Transcript: ENSMUST00000160962
AA Change: P145S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000125572
Gene: ENSMUSG00000061436
AA Change: P145S

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 benign
Transcript: ENSMUST00000161779
AA Change: P152S

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000124133
Gene: ENSMUSG00000061436
AA Change: P152S

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 benign
Transcript: ENSMUST00000162359
AA Change: P152S

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000125150
Gene: ENSMUSG00000061436
AA Change: P152S

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

Meta Mutation Damage Score

0.0685

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

96% (73/76)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,373,323	F3387I	possibly damaging	Het
Acacb	T	A	5: 114,166,027	S170R	probably benign	Het
Adamtsl4	A	G	3: 95,681,650		probably null	Het
Adgrv1	A	G	13: 81,488,931	C3464R	probably benign	Het
Apbb1	A	T	7: 105,565,682		probably benign	Het
Cad	A	G	5: 31,055,021	T23A	probably benign	Het
Cdca7	A	G	2: 72,483,415	R183G	probably benign	Het
Cdpf1	T	C	15: 85,809,312	T5A	probably benign	Het
Cep85	T	C	4: 134,156,179	D133G	probably damaging	Het
Chrna9	T	C	5: 65,971,016	L189P	probably damaging	Het
Clca1	A	C	3: 145,007,928		probably null	Het
Cntn1	G	T	15: 92,242,995	V201F	probably damaging	Het
Col4a3	A	G	1: 82,666,546	E352G	unknown	Het
Ddhd2	T	C	8: 25,752,137	Y237C	probably damaging	Het
Dnah6	A	C	6: 73,037,622	F3609V	probably benign	Het
Epha3	T	C	16: 63,602,287	K580R	possibly damaging	Het
Fam135b	T	C	15: 71,462,711	N878S	probably benign	Het
Fam71e2	T	C	7: 4,758,661	N351D	probably benign	Het
Fbn1	T	G	2: 125,329,102	T1938P	probably damaging	Het
Foxg1	T	C	12: 49,385,186	V234A	probably damaging	Het
Glt1d1	A	T	5: 127,644,414	N55I	probably benign	Het
Gm17641	C	A	3: 68,869,474		probably benign	Het
Gm7665	A	G	18: 16,274,731		noncoding transcript	Het
Hgf	A	C	5: 16,614,894	N541T	probably benign	Het
Jarid2	C	T	13: 44,906,565	L720F	probably damaging	Het
Kifc5b	A	G	17: 26,924,787	E511G	probably damaging	Het
Ldlr	G	A	9: 21,735,242	A235T	probably benign	Het
Lmln	A	G	16: 33,074,180	D231G	possibly damaging	Het
Lrp1	A	G	10: 127,567,495	C2070R	probably damaging	Het
Mbl1	A	G	14: 41,158,724	T190A	possibly damaging	Het
Mpdz	A	T	4: 81,381,697	S355T	probably benign	Het
Muc19	C	T	15: 91,888,138		noncoding transcript	Het
Mycbp2	A	C	14: 103,139,235		probably null	Het
Naa20	T	C	2: 145,915,842	S164P	probably damaging	Het
Nme4	A	T	17: 26,093,833		probably benign	Het
Npas2	A	T	1: 39,347,506	R619*	probably null	Het
Nudt19	G	A	7: 35,555,746	T20I	possibly damaging	Het
Olfr1224-ps1	T	A	2: 89,156,939	K79*	probably null	Het
Olfr1447	A	G	19: 12,901,001	Y260H	probably damaging	Het
Pitpnc1	A	G	11: 107,296,228	Y90H	possibly damaging	Het
Rcor2	A	G	19: 7,269,785	T6A	probably benign	Het
Rif1	T	A	2: 52,109,928	S1131R	probably damaging	Het
Rtkn	T	A	6: 83,150,991	D377E	probably benign	Het
Rtn4rl2	T	A	2: 84,872,502	N242I	probably damaging	Het
Sbno2	G	A	10: 80,062,188	L719F	probably benign	Het
Scn11a	G	T	9: 119,819,831	D55E	probably damaging	Het
Setd1b	T	A	5: 123,151,866	I632N	unknown	Het
Spaca6	A	G	17: 17,831,196	T45A	probably benign	Het
Srpk2	A	T	5: 23,524,392	D416E	possibly damaging	Het
Sspo	A	T	6: 48,466,955		probably null	Het
Sycp1	A	T	3: 102,845,054	I804N	probably benign	Het
Tdp2	G	A	13: 24,831,826	R32Q	probably benign	Het
Tgfbr3	A	G	5: 107,136,929	V618A	possibly damaging	Het
Tmc3	C	T	7: 83,609,118	P439S	probably benign	Het
Tnxb	A	T	17: 34,717,483	D2740V	probably damaging	Het
Tspyl4	A	G	10: 34,297,937	T142A	probably benign	Het
Ttn	T	C	2: 76,880,441		probably benign	Het
Tubgcp4	T	C	2: 121,173,580	L34P	probably damaging	Het
Tubgcp6	G	T	15: 89,099,545		probably benign	Het
Unc79	T	A	12: 103,112,703	V1690E	probably benign	Het
Vps4b	T	C	1: 106,796,418		probably null	Het
Wtap	A	G	17: 12,967,638	S341P	possibly damaging	Het
Wwc1	T	C	11: 35,883,345	T363A	probably benign	Het
Zbtb8a	G	A	4: 129,360,500	T67M	probably damaging	Het
Zfp865	T	C	7: 5,034,669		probably benign	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
R1995:Hipk2	UTSW	6	38715974	missense	probably damaging	1.00
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
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'- ACTTGCCCAAATGTCCCTCG -3'
(R):5'- ACGAGCAGACCATCATCTTC -3'

Sequencing Primer
(F):5'- ATGTCCCTCGCCCCAAG -3'
(R):5'- CTGGACACATAGTTGTAACATCAGC -3'

Posted On

2016-06-15