Mutagenetix > Incidental Mutation

Incidental Mutation 'R5937:Hnrnpk'

462337

Institutional Source

Beutler Lab

Gene Symbol

Hnrnpk

Ensembl Gene

ENSMUSG00000021546

Gene Name

heterogeneous nuclear ribonucleoprotein K

Synonyms

Hnrpk, KBBP, hnRNPK

MMRRC Submission

043242-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.842) question?

Stock #

R5937 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58538956-58551157 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 58543016 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 134 (V134G)

Ref Sequence

ENSEMBL: ENSMUSP00000135833 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043269] [ENSMUST00000116403] [ENSMUST00000175847] [ENSMUST00000176207] [ENSMUST00000177060] [ENSMUST00000176305] [ENSMUST00000176849] [ENSMUST00000177019] [ENSMUST00000177117] [ENSMUST00000176558] [ENSMUST00000177497] [ENSMUST00000224182] [ENSMUST00000225176] [ENSMUST00000225674] [ENSMUST00000224836] [ENSMUST00000224030] [ENSMUST00000224342] [ENSMUST00000225031] [ENSMUST00000224524] [ENSMUST00000223822]

AlphaFold

P61979

Predicted Effect

probably damaging
Transcript: ENSMUST00000043269
AA Change: V203G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000039269
Gene: ENSMUSG00000021546
AA Change: V203G

Domain	Start	End	E-Value	Type
KH	41	109	4.56e-11	SMART
KH	143	214	2.66e-12	SMART
low complexity region	252	279	N/A	INTRINSIC
low complexity region	285	301	N/A	INTRINSIC
low complexity region	307	315	N/A	INTRINSIC
low complexity region	323	335	N/A	INTRINSIC
low complexity region	365	381	N/A	INTRINSIC
KH	386	456	3.12e-18	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083500

Predicted Effect

probably damaging
Transcript: ENSMUST00000116403
AA Change: V203G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112104
Gene: ENSMUSG00000021546
AA Change: V203G

Domain	Start	End	E-Value	Type
KH	41	109	4.56e-11	SMART
KH	143	214	2.66e-12	SMART
low complexity region	252	279	N/A	INTRINSIC
low complexity region	285	301	N/A	INTRINSIC
low complexity region	307	315	N/A	INTRINSIC
low complexity region	323	335	N/A	INTRINSIC
low complexity region	365	381	N/A	INTRINSIC
KH	386	456	3.12e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000175847

SMART Domains

Protein: ENSMUSP00000134837
Gene: ENSMUSG00000021546

Domain	Start	End	E-Value	Type
Pfam:ROKNT	1	43	7.6e-24	PFAM
Pfam:KH_4	21	70	1.4e-9	PFAM
Pfam:KH_2	25	74	4.4e-7	PFAM
Pfam:KH_1	44	72	3.5e-8	PFAM
Pfam:KH_3	54	73	9.6e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175939

Predicted Effect

probably damaging
Transcript: ENSMUST00000176207
AA Change: V179G

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

SMART Domains

Protein: ENSMUSP00000135354
Gene: ENSMUSG00000021546
AA Change: V179G

Domain	Start	End	E-Value	Type
KH	41	109	4.56e-11	SMART
KH	119	190	2.66e-12	SMART
low complexity region	228	255	N/A	INTRINSIC
low complexity region	261	277	N/A	INTRINSIC
low complexity region	283	291	N/A	INTRINSIC
low complexity region	299	311	N/A	INTRINSIC
low complexity region	341	357	N/A	INTRINSIC
KH	362	432	3.12e-18	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176257

Predicted Effect

probably damaging
Transcript: ENSMUST00000177060
AA Change: V176G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000135407
Gene: ENSMUSG00000021546
AA Change: V176G

Domain	Start	End	E-Value	Type
KH	38	106	4.56e-11	SMART
KH	116	177	2.28e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000176305
AA Change: V203G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000135305
Gene: ENSMUSG00000021546
AA Change: V203G

Domain	Start	End	E-Value	Type
KH	41	109	4.56e-11	SMART
KH	143	214	2.66e-12	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176609

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176725

Predicted Effect

probably damaging
Transcript: ENSMUST00000176849
AA Change: V179G

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

SMART Domains

Protein: ENSMUSP00000135342
Gene: ENSMUSG00000021546
AA Change: V179G

Domain	Start	End	E-Value	Type
KH	41	109	4.56e-11	SMART
KH	119	190	2.66e-12	SMART
low complexity region	228	255	N/A	INTRINSIC
low complexity region	261	277	N/A	INTRINSIC
low complexity region	283	291	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176888

Predicted Effect

probably damaging
Transcript: ENSMUST00000177019
AA Change: V179G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135647
Gene: ENSMUSG00000021546
AA Change: V179G

Domain	Start	End	E-Value	Type
KH	41	109	4.56e-11	SMART
KH	119	190	2.66e-12	SMART
low complexity region	228	255	N/A	INTRINSIC
low complexity region	261	277	N/A	INTRINSIC
low complexity region	283	291	N/A	INTRINSIC
low complexity region	299	311	N/A	INTRINSIC
low complexity region	341	357	N/A	INTRINSIC
KH	362	432	3.12e-18	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176359

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177051

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176269

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177377

Predicted Effect

probably benign
Transcript: ENSMUST00000177117

SMART Domains

Protein: ENSMUSP00000135109
Gene: ENSMUSG00000021546

Domain	Start	End	E-Value	Type
Blast:KH	3	40	2e-18	BLAST
Pfam:KH_1	53	87	2.2e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176797

Predicted Effect

probably benign
Transcript: ENSMUST00000176558

SMART Domains

Protein: ENSMUSP00000135623
Gene: ENSMUSG00000021546

Domain	Start	End	E-Value	Type
KH	41	96	6.49e-1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000177497
AA Change: V134G

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

SMART Domains

Protein: ENSMUSP00000135833
Gene: ENSMUSG00000021546
AA Change: V134G

Domain	Start	End	E-Value	Type
Blast:KH	3	40	8e-16	BLAST
KH	74	145	2.66e-12	SMART
low complexity region	183	210	N/A	INTRINSIC
low complexity region	216	232	N/A	INTRINSIC
low complexity region	238	246	N/A	INTRINSIC
low complexity region	254	266	N/A	INTRINSIC
low complexity region	296	312	N/A	INTRINSIC
KH	317	387	3.12e-18	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000224182
AA Change: V203G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000225176
AA Change: V203G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000225674
AA Change: V203G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224531

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224782

Predicted Effect

probably benign
Transcript: ENSMUST00000224836

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226015

Predicted Effect

probably benign
Transcript: ENSMUST00000224030

Predicted Effect

probably benign
Transcript: ENSMUST00000224342

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225866

Predicted Effect

probably benign
Transcript: ENSMUST00000225031

Predicted Effect

probably benign
Transcript: ENSMUST00000224524

Predicted Effect

probably benign
Transcript: ENSMUST00000223822

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.3%
20x: 91.5%

Validation Efficiency

MGI Phenotype

FUNCTION: The protein encoded by this gene is a component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complex, and is a poly-cytosine binding protein (PCBP). It is found in multiple subcellular compartments including the nucleus, cytoplasm and mitochondria. This gene product is thought to interact with RNA, DNA, and protein, and is involved in multiple cellular processes, including transcription, chromatin remodeling, DNA damage response, signal transduction, mRNA splicing, export, and translation. Multiple transcript variants and protein isoforms exist, with some isoforms containing a unique C-terminus. There are four pseudogenes of this gene, found on chromosomes 2, 3, 7 and 13. [provided by RefSeq, Aug 2014]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	A	T	15: 60,791,495 (GRCm39)	W314R	probably benign	Het
Adgrv1	A	T	13: 81,255,194 (GRCm39)	V6143E	probably damaging	Het
Agap3	C	T	5: 24,682,815 (GRCm39)	T261I	probably damaging	Het
Ano6	T	C	15: 95,811,838 (GRCm39)	I241T	probably damaging	Het
Arhgef28	T	C	13: 98,076,051 (GRCm39)	T1328A	probably benign	Het
Capn10	C	T	1: 92,867,105 (GRCm39)	R112W	probably damaging	Het
Car5a	A	T	8: 122,666,560 (GRCm39)	W46R	probably damaging	Het
Cntn6	C	A	6: 104,810,064 (GRCm39)	T582K	possibly damaging	Het
Ctsh	T	C	9: 89,943,509 (GRCm39)	V60A	probably benign	Het
Ctsll3	A	G	13: 60,947,410 (GRCm39)	F259L	probably damaging	Het
Dennd2b	A	T	7: 109,156,478 (GRCm39)	C91S	possibly damaging	Het
Fam228a	T	C	12: 4,787,725 (GRCm39)	E16G	probably damaging	Het
G3bp2	A	G	5: 92,203,256 (GRCm39)	I388T	probably damaging	Het
Galnt5	A	T	2: 57,928,949 (GRCm39)	K926N	probably benign	Het
Gm10097	G	A	10: 5,019,485 (GRCm39)		probably benign	Het
Gm9978	T	A	10: 78,322,675 (GRCm39)		noncoding transcript	Het
Gria1	A	G	11: 57,080,559 (GRCm39)	T112A	probably benign	Het
Insr	A	G	8: 3,224,808 (GRCm39)	V220A	probably benign	Het
Lhx4	A	G	1: 155,586,023 (GRCm39)	I96T	probably damaging	Het
Lrp1	T	C	10: 127,419,745 (GRCm39)	T955A	possibly damaging	Het
Lrtm1	T	C	14: 28,743,787 (GRCm39)	V85A	possibly damaging	Het
Man2a2	T	C	7: 80,013,251 (GRCm39)	Y514C	probably damaging	Het
Npas1	T	A	7: 16,197,187 (GRCm39)	D226V	probably benign	Het
Nrcam	G	A	12: 44,619,074 (GRCm39)	V858I	probably benign	Het
Or14c40	G	T	7: 86,313,684 (GRCm39)	L271F	probably benign	Het
Or5b108	T	A	19: 13,168,675 (GRCm39)	S215T	probably damaging	Het
Pde6b	G	T	5: 108,572,193 (GRCm39)	A478S	probably benign	Het
Pex1	T	A	5: 3,674,487 (GRCm39)	N789K	possibly damaging	Het
Plekha6	A	G	1: 133,187,839 (GRCm39)	D120G	possibly damaging	Het
Pomgnt1	A	G	4: 116,011,110 (GRCm39)	T220A	probably benign	Het
Sdr39u1	A	T	14: 56,135,364 (GRCm39)	I193K	probably damaging	Het
Sec61a2	C	A	2: 5,891,368 (GRCm39)	M54I	probably benign	Het
Sema5a	A	G	15: 32,574,987 (GRCm39)	Y365C	probably damaging	Het
Sra1	C	T	18: 36,804,652 (GRCm39)		probably null	Het
Taf5	C	T	19: 47,070,334 (GRCm39)	S640L	probably damaging	Het
Tas2r140	T	A	6: 133,032,236 (GRCm39)	H174L	probably benign	Het
Tmem63a	T	A	1: 180,788,716 (GRCm39)	V351D	probably damaging	Het
Ttll7	C	T	3: 146,649,847 (GRCm39)	Q626*	probably null	Het
Ubn2	T	A	6: 38,440,917 (GRCm39)	V263E	possibly damaging	Het
Vmn2r106	C	T	17: 20,505,667 (GRCm39)	W9*	probably null	Het
Xrcc3	C	G	12: 111,774,406 (GRCm39)	C141S	probably null	Het
Zfp516	T	A	18: 82,974,958 (GRCm39)	D385E	probably damaging	Het

Other mutations in Hnrnpk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00234:Hnrnpk	APN	13	58,543,111 (GRCm39)	splice site	probably benign
IGL03181:Hnrnpk	APN	13	58,542,130 (GRCm39)	missense	possibly damaging	0.67
R0136:Hnrnpk	UTSW	13	58,542,991 (GRCm39)	missense	probably benign	0.01
R1131:Hnrnpk	UTSW	13	58,541,979 (GRCm39)	splice site	probably null
R1690:Hnrnpk	UTSW	13	58,548,168 (GRCm39)	missense	probably benign	0.23
R1956:Hnrnpk	UTSW	13	58,544,000 (GRCm39)	critical splice donor site	probably null
R4525:Hnrnpk	UTSW	13	58,541,696 (GRCm39)	splice site	probably benign
R4663:Hnrnpk	UTSW	13	58,542,331 (GRCm39)	missense	probably damaging	0.98
R4754:Hnrnpk	UTSW	13	58,546,950 (GRCm39)	unclassified	probably benign
R5473:Hnrnpk	UTSW	13	58,541,913 (GRCm39)	missense	probably damaging	0.99
R5830:Hnrnpk	UTSW	13	58,545,548 (GRCm39)	nonsense	probably null
R5997:Hnrnpk	UTSW	13	58,546,971 (GRCm39)	missense	probably damaging	1.00
R6188:Hnrnpk	UTSW	13	58,541,967 (GRCm39)	missense	probably benign	0.11
R6461:Hnrnpk	UTSW	13	58,541,008 (GRCm39)	critical splice donor site	probably null
R7505:Hnrnpk	UTSW	13	58,547,783 (GRCm39)	missense	probably benign
R9491:Hnrnpk	UTSW	13	58,541,050 (GRCm39)	missense	probably benign	0.18
R9499:Hnrnpk	UTSW	13	58,544,058 (GRCm39)	missense	probably benign	0.31
R9551:Hnrnpk	UTSW	13	58,544,058 (GRCm39)	missense	probably benign	0.31

Predicted Primers

PCR Primer
(F):5'- TGGCACTACAGGGACCTTTG -3'
(R):5'- GTTGACCACATTCTGTATTGAGAG -3'

Sequencing Primer
(F):5'- CACTACAGGGACCTTTGAGTAAG -3'
(R):5'- CCACATTCTGTATTGAGAGTAATTGG -3'

Posted On

2017-02-28