Mutagenetix > Incidental Mutation

Incidental Mutation 'R0136:Hnrnpk'

21976

Institutional Source

Beutler Lab

Gene Symbol

Hnrnpk

Ensembl Gene

ENSMUSG00000021546

Gene Name

heterogeneous nuclear ribonucleoprotein K

Synonyms

Hnrpk, KBBP, hnRNPK

MMRRC Submission

038421-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.873) question?

Stock #

R0136 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

58538956-58551157 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 58542991 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 211 (D211E)

Ref Sequence

ENSEMBL: ENSMUSP00000153487 (fasta)

Gene Model

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

AlphaFold

P61979

Predicted Effect

probably benign
Transcript: ENSMUST00000043269
AA Change: D211E

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

SMART Domains

Protein: ENSMUSP00000039269
Gene: ENSMUSG00000021546
AA Change: D211E

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 benign
Transcript: ENSMUST00000116403
AA Change: D211E

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

SMART Domains

Protein: ENSMUSP00000112104
Gene: ENSMUSG00000021546
AA Change: D211E

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 benign
Transcript: ENSMUST00000176207
AA Change: D187E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000135354
Gene: ENSMUSG00000021546
AA Change: D187E

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 benign
Transcript: ENSMUST00000176305
AA Change: D211E

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

SMART Domains

Protein: ENSMUSP00000135305
Gene: ENSMUSG00000021546
AA Change: D211E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000176849
AA Change: D187E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000135342
Gene: ENSMUSG00000021546
AA Change: D187E

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

probably benign
Transcript: ENSMUST00000177019
AA Change: D187E

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

SMART Domains

Protein: ENSMUSP00000135647
Gene: ENSMUSG00000021546
AA Change: D187E

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

unknown
Transcript: ENSMUST00000176797
AA Change: D7E

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176359

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177051

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176269

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176888

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176609

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176725

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177377

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 benign
Transcript: ENSMUST00000177060

SMART Domains

Protein: ENSMUSP00000135407
Gene: ENSMUSG00000021546

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

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: ENSMUST00000177497
AA Change: D142E

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000135833
Gene: ENSMUSG00000021546
AA Change: D142E

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 benign
Transcript: ENSMUST00000225176
AA Change: D211E

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

probably benign
Transcript: ENSMUST00000225674
AA Change: D211E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000224182
AA Change: D211E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000223822

Predicted Effect

probably benign
Transcript: ENSMUST00000224524

Predicted Effect

probably benign
Transcript: ENSMUST00000225031

Predicted Effect

probably benign
Transcript: ENSMUST00000224836

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224782

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226015

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224531

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225866

Predicted Effect

probably benign
Transcript: ENSMUST00000224030

Predicted Effect

probably benign
Transcript: ENSMUST00000224342

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.5%
20x: 93.3%

Validation Efficiency

89% (56/63)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap4b1	T	C	3: 103,717,262 (GRCm39)	M1T	probably null	Het
Arg2	T	C	12: 79,196,780 (GRCm39)	L167P	probably damaging	Het
Atxn1	A	G	13: 45,720,645 (GRCm39)	S417P	probably damaging	Het
Baz2b	A	G	2: 59,732,298 (GRCm39)	V1949A	probably benign	Het
Bcl3	A	G	7: 19,543,494 (GRCm39)	V324A	probably damaging	Het
Btbd10	A	T	7: 112,929,085 (GRCm39)	S230T	possibly damaging	Het
Camta1	A	G	4: 151,163,426 (GRCm39)	S1479P	probably damaging	Het
Cd69	C	T	6: 129,247,025 (GRCm39)	S64N	probably benign	Het
Col5a1	T	C	2: 27,914,843 (GRCm39)	L153P	probably damaging	Het
Crat	C	A	2: 30,297,042 (GRCm39)	V304L	probably benign	Het
Csmd3	T	C	15: 47,710,527 (GRCm39)	T1687A	probably benign	Het
Dnah1	C	T	14: 30,998,115 (GRCm39)	G2574D	probably damaging	Het
Fau	T	C	19: 6,109,210 (GRCm39)	V86A	possibly damaging	Het
Garem1	T	G	18: 21,263,048 (GRCm39)	S589R	probably damaging	Het
Gbp3	T	G	3: 142,269,862 (GRCm39)		probably null	Het
Gin1	T	A	1: 97,710,741 (GRCm39)	S141R	possibly damaging	Het
Gtf2h1	A	T	7: 46,464,840 (GRCm39)	Q419L	possibly damaging	Het
Hipk3	A	G	2: 104,269,638 (GRCm39)	I517T	probably benign	Het
Hivep2	T	C	10: 14,007,622 (GRCm39)	S1407P	probably benign	Het
Hnrnpul2	T	C	19: 8,804,165 (GRCm39)	L588P	probably damaging	Het
Il18rap	A	T	1: 40,564,218 (GRCm39)	H112L	probably benign	Het
Itgb1	T	G	8: 129,449,335 (GRCm39)	Y585D	possibly damaging	Het
Kmt2d	C	T	15: 98,752,159 (GRCm39)		probably benign	Het
Map7d1	A	T	4: 126,130,424 (GRCm39)		probably null	Het
Me2	A	G	18: 73,903,744 (GRCm39)	S575P	probably benign	Het
Med13l	A	G	5: 118,862,115 (GRCm39)	T353A	probably benign	Het
Mgat4b	T	C	11: 50,121,908 (GRCm39)	V143A	possibly damaging	Het
Mlxip	T	A	5: 123,580,369 (GRCm39)	W211R	probably damaging	Het
Morc2a	T	G	11: 3,635,907 (GRCm39)		probably null	Het
Muc4	A	T	16: 32,569,013 (GRCm39)		probably benign	Het
Ndufa10	A	T	1: 92,390,850 (GRCm39)	Y233*	probably null	Het
Nek8	C	T	11: 78,062,033 (GRCm39)	S237N	probably benign	Het
Neto1	G	A	18: 86,479,445 (GRCm39)	R211Q	probably benign	Het
Nfatc2ip	A	G	7: 125,990,507 (GRCm39)	S165P	probably benign	Het
Nsd2	A	G	5: 34,012,880 (GRCm39)	K404E	possibly damaging	Het
Nsd3	G	T	8: 26,149,870 (GRCm39)	E352*	probably null	Het
Nudt9	A	G	5: 104,194,972 (GRCm39)	T23A	probably benign	Het
Or1e34	T	C	11: 73,778,611 (GRCm39)	M196V	probably benign	Het
Or1e34	C	T	11: 73,778,656 (GRCm39)	V181I	probably benign	Het
Or8b57	A	G	9: 40,003,315 (GRCm39)	*312Q	probably null	Het
Patj	C	A	4: 98,555,885 (GRCm39)	Q297K	probably damaging	Het
Pelo	A	T	13: 115,225,439 (GRCm39)	C40*	probably null	Het
Pnpla3	G	A	15: 84,058,679 (GRCm39)		probably null	Het
Pramel1	C	A	4: 143,124,016 (GRCm39)	N230K	probably damaging	Het
Psg20	A	C	7: 18,416,432 (GRCm39)	L228R	probably damaging	Het
Rsph10b	T	C	5: 143,896,639 (GRCm39)	F44L	probably benign	Het
Septin2	G	A	1: 93,434,772 (GRCm39)	G358R	possibly damaging	Het
Slamf7	G	A	1: 171,476,499 (GRCm39)		probably benign	Het
Slc12a8	A	G	16: 33,428,583 (GRCm39)	D297G	probably damaging	Het
Slc17a5	G	A	9: 78,485,956 (GRCm39)	A43V	probably damaging	Het
Slc22a1	A	T	17: 12,881,483 (GRCm39)	F335L	probably benign	Het
Slc26a5	T	C	5: 22,039,345 (GRCm39)	N216S	probably damaging	Het
Snrnp27	T	C	6: 86,653,187 (GRCm39)	S144G	probably benign	Het
Spata20	T	A	11: 94,371,435 (GRCm39)	D643V	probably damaging	Het
Spata24	T	C	18: 35,793,515 (GRCm39)	K99R	probably damaging	Het
Taar5	A	G	10: 23,847,607 (GRCm39)	Y335C	probably damaging	Het
Tpr	A	G	1: 150,306,346 (GRCm39)	H1540R	probably benign	Het
Vmn1r27	A	G	6: 58,192,704 (GRCm39)	F100S	possibly damaging	Het
Vmn2r37	A	T	7: 9,220,782 (GRCm39)	Y360*	probably null	Het
Ybx1	C	A	4: 119,139,551 (GRCm39)	R36L	possibly damaging	Het
Zfp369	A	G	13: 65,445,016 (GRCm39)	K720E	probably benign	Het
Zfp599	A	G	9: 22,161,038 (GRCm39)	S376P	probably benign	Het
Zic2	A	G	14: 122,713,953 (GRCm39)	E289G	probably damaging	Het
Zzef1	T	C	11: 72,712,677 (GRCm39)	V199A	probably benign	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
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
R5937:Hnrnpk	UTSW	13	58,543,016 (GRCm39)	missense	probably damaging	1.00
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'- ACTACAGGGACCTTTGAGTAAGGACC -3'
(R):5'- GTTGATTCATCAGAGTCTGGCAGGAG -3'

Sequencing Primer
(F):5'- CTTTGAGTAAGGACCAAAGGCAC -3'
(R):5'- CTAGGTCCTGTGTAGTTGACCAC -3'

Posted On

2013-04-12