Incidental Mutation 'R7505:Hnrnpk'
ID 581752
Institutional Source Beutler Lab
Gene Symbol Hnrnpk
Ensembl Gene ENSMUSG00000021546
Gene Name heterogeneous nuclear ribonucleoprotein K
Synonyms Hnrpk, KBBP, hnRNPK
MMRRC Submission 045578-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.873) question?
Stock # R7505 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 58538956-58551157 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 58547783 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 27 (M27T)
Ref Sequence ENSEMBL: ENSMUSP00000112104 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042450] [ENSMUST00000043269] [ENSMUST00000116403] [ENSMUST00000175847] [ENSMUST00000176207] [ENSMUST00000176305] [ENSMUST00000176558] [ENSMUST00000176849] [ENSMUST00000177019] [ENSMUST00000177060] [ENSMUST00000177117] [ENSMUST00000177497] [ENSMUST00000223822] [ENSMUST00000224030] [ENSMUST00000224182] [ENSMUST00000224342] [ENSMUST00000224524] [ENSMUST00000224836] [ENSMUST00000225031] [ENSMUST00000225176] [ENSMUST00000225674] [ENSMUST00000225815] [ENSMUST00000225828]
AlphaFold P61979
Predicted Effect probably benign
Transcript: ENSMUST00000042450
SMART Domains Protein: ENSMUSP00000041035
Gene: ENSMUSG00000035367

DomainStartEndE-ValueType
DUF1767 11 104 1.62e-34 SMART
low complexity region 243 259 N/A INTRINSIC
low complexity region 271 285 N/A INTRINSIC
Pfam:RMI1_C 479 614 4.2e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000043269
AA Change: M27T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000039269
Gene: ENSMUSG00000021546
AA Change: M27T

DomainStartEndE-ValueType
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: ENSMUST00000116403
AA Change: M27T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000112104
Gene: ENSMUSG00000021546
AA Change: M27T

DomainStartEndE-ValueType
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
AA Change: M27T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000134837
Gene: ENSMUSG00000021546
AA Change: M27T

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000176207
AA Change: M27T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000135354
Gene: ENSMUSG00000021546
AA Change: M27T

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000176305
AA Change: M27T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000135305
Gene: ENSMUSG00000021546
AA Change: M27T

DomainStartEndE-ValueType
KH 41 109 4.56e-11 SMART
KH 143 214 2.66e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000176558
AA Change: M27T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000135623
Gene: ENSMUSG00000021546
AA Change: M27T

DomainStartEndE-ValueType
KH 41 96 6.49e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000176797
Predicted Effect probably benign
Transcript: ENSMUST00000176849
AA Change: M27T

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000135342
Gene: ENSMUSG00000021546
AA Change: M27T

DomainStartEndE-ValueType
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: M27T

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000135647
Gene: ENSMUSG00000021546
AA Change: M27T

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000177060
AA Change: M24T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000135407
Gene: ENSMUSG00000021546
AA Change: M24T

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Blast:KH 3 40 2e-18 BLAST
Pfam:KH_1 53 87 2.2e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177497
SMART Domains Protein: ENSMUSP00000135833
Gene: ENSMUSG00000021546

DomainStartEndE-ValueType
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: ENSMUST00000223822
AA Change: M27T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000224030
AA Change: M27T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000224182
AA Change: M27T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000224342
AA Change: M27T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000224524
AA Change: M27T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000224836
AA Change: M27T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000225031
AA Change: M27T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000225176
AA Change: M27T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000225674
AA Change: M27T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000225815
Predicted Effect probably benign
Transcript: ENSMUST00000225828
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 T A 15: 91,033,260 (GRCm39) N719Y possibly damaging Het
Adamts2 T C 11: 50,687,347 (GRCm39) I1058T probably benign Het
Alb T A 5: 90,617,368 (GRCm39) Y356N probably damaging Het
Ankrd52 A G 10: 128,225,924 (GRCm39) N971D probably damaging Het
Atp6v1c2 A G 12: 17,347,724 (GRCm39) probably null Het
Atp6v1h A T 1: 5,194,561 (GRCm39) I247L probably benign Het
Cacna1s C T 1: 136,013,187 (GRCm39) R593* probably null Het
Cacna2d3 C T 14: 28,767,501 (GRCm39) probably null Het
Cdh15 G A 8: 123,575,231 (GRCm39) G2D probably benign Het
Cebpe G T 14: 54,948,113 (GRCm39) N243K probably damaging Het
Celf2 A T 2: 6,629,511 (GRCm39) M136K probably damaging Het
Cep290 A G 10: 100,352,127 (GRCm39) I778V probably benign Het
Col22a1 A T 15: 71,671,248 (GRCm39) C1592* probably null Het
Cpne2 A T 8: 95,275,094 (GRCm39) N34I possibly damaging Het
Cps1 A G 1: 67,219,240 (GRCm39) N860S probably benign Het
Disp2 T G 2: 118,621,569 (GRCm39) L767R probably damaging Het
Eif1ad19 A T 12: 87,740,270 (GRCm39) N96K probably benign Het
Evpl A G 11: 116,117,813 (GRCm39) probably null Het
F7 A T 8: 13,078,745 (GRCm39) N59Y possibly damaging Het
Fam98a A T 17: 75,845,233 (GRCm39) H504Q unknown Het
Fbxo4 G A 15: 4,000,903 (GRCm39) R270C probably benign Het
Fcgbp T C 7: 27,789,099 (GRCm39) V555A probably damaging Het
Fgf4 T C 7: 144,415,498 (GRCm39) V86A possibly damaging Het
Fpgt G T 3: 154,792,413 (GRCm39) A538D possibly damaging Het
Gars1 A G 6: 55,029,162 (GRCm39) T181A probably benign Het
Gask1a G C 9: 121,805,483 (GRCm39) G425R probably benign Het
Gbx2 A G 1: 89,856,455 (GRCm39) S312P probably benign Het
Gm29735 C T 7: 141,710,327 (GRCm39) C175Y unknown Het
Gm7995 A G 14: 42,132,314 (GRCm39) T49A Het
Idh3b A G 2: 130,126,147 (GRCm39) S20P probably benign Het
Idh3b G C 2: 130,126,153 (GRCm39) R18G probably benign Het
Ighg2b T A 12: 113,268,600 (GRCm39) T354S Het
Lrfn2 T A 17: 49,403,479 (GRCm39) M534K probably benign Het
Mcpt8 G A 14: 56,320,548 (GRCm39) A127V probably benign Het
Msi2 A T 11: 88,304,743 (GRCm39) N176K possibly damaging Het
Mtr G T 13: 12,236,362 (GRCm39) D621E probably benign Het
Nlrp5 T A 7: 23,106,925 (GRCm39) I63N probably benign Het
Nol6 T C 4: 41,120,352 (GRCm39) D455G probably damaging Het
Nrde2 A T 12: 100,098,757 (GRCm39) S637T probably benign Het
Ntn4 G T 10: 93,543,146 (GRCm39) G291W probably damaging Het
Or13a28 C A 7: 140,217,965 (GRCm39) T117K probably damaging Het
Or4d10 T A 19: 12,051,969 (GRCm39) E9V possibly damaging Het
Otof T A 5: 30,528,364 (GRCm39) T1865S probably benign Het
Plec A T 15: 76,065,394 (GRCm39) S1559T unknown Het
Plekhm1 C T 11: 103,270,855 (GRCm39) probably null Het
Plin4 T A 17: 56,416,357 (GRCm39) Q49L possibly damaging Het
Polrmt A G 10: 79,573,717 (GRCm39) F995L probably benign Het
Polrmt A G 10: 79,579,010 (GRCm39) probably null Het
Pramel16 A G 4: 143,676,273 (GRCm39) I277T possibly damaging Het
Pramel28 C T 4: 143,691,556 (GRCm39) C389Y probably benign Het
Rims1 T C 1: 22,573,077 (GRCm39) T375A possibly damaging Het
Ryr3 A T 2: 112,542,774 (GRCm39) M3145K probably damaging Het
S100a11 A G 3: 93,433,339 (GRCm39) K61R probably benign Het
Sar1a A G 10: 61,527,073 (GRCm39) T164A probably benign Het
Sec31b C T 19: 44,532,146 (GRCm39) A25T probably damaging Het
Smpd2 A G 10: 41,363,350 (GRCm39) V371A probably benign Het
Speer1g T A 5: 11,181,135 (GRCm39) Y141N possibly damaging Het
Spg11 A T 2: 121,905,832 (GRCm39) L1271* probably null Het
Svep1 T C 4: 58,115,862 (GRCm39) T944A possibly damaging Het
Taf6 A T 5: 138,178,207 (GRCm39) C431* probably null Het
Tdrd6 A G 17: 43,938,570 (GRCm39) V826A not run Het
Tent4a G T 13: 69,655,047 (GRCm39) P476T probably damaging Het
Tmem132a A G 19: 10,836,037 (GRCm39) V831A probably damaging Het
Tnfrsf8 T G 4: 144,995,685 (GRCm39) D458A probably damaging Het
Trpv5 A G 6: 41,651,590 (GRCm39) I196T probably damaging Het
Ttn T A 2: 76,608,898 (GRCm39) D17706V probably damaging Het
Uimc1 T C 13: 55,223,444 (GRCm39) Y276C probably damaging Het
Usp24 T A 4: 106,236,276 (GRCm39) I988K probably damaging Het
Vmn2r74 T A 7: 85,606,279 (GRCm39) R356* probably null Het
Wdr37 A T 13: 8,869,971 (GRCm39) H429Q probably damaging Het
Wwc2 A T 8: 48,333,185 (GRCm39) L277Q probably damaging Het
Zscan12 T A 13: 21,552,756 (GRCm39) N193K possibly damaging Het
Other mutations in Hnrnpk
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- GGGGTCTCAAAACAAATGAACC -3'
(R):5'- GAAGTAACCTTTTCTTGCACAGG -3'

Sequencing Primer
(F):5'- ACCCTTTAAAAACCTTTTATTCAACG -3'
(R):5'- CTTGCACAGGTTAAAAAGCAGTAC -3'
Posted On 2019-10-17