Incidental Mutation 'R5191:Hnrnpc'
ID 398193
Institutional Source Beutler Lab
Gene Symbol Hnrnpc
Ensembl Gene ENSMUSG00000060373
Gene Name heterogeneous nuclear ribonucleoprotein C
Synonyms D14Wsu171e, Hnrpc1, Hnrpc2, hnRNP C2, hnRNP C1, Hnrpc, hnRNPC1, hnRNPC2
MMRRC Submission 043263-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5191 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 52310834-52341485 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 52314964 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 141 (V141E)
Ref Sequence ENSEMBL: ENSMUSP00000154166 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111610] [ENSMUST00000164655] [ENSMUST00000227195] [ENSMUST00000227242] [ENSMUST00000227458] [ENSMUST00000227536] [ENSMUST00000228232] [ENSMUST00000228748] [ENSMUST00000228198]
AlphaFold Q9Z204
Predicted Effect possibly damaging
Transcript: ENSMUST00000111610
AA Change: V154E

PolyPhen 2 Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000107237
Gene: ENSMUSG00000060373
AA Change: V154E

DomainStartEndE-ValueType
RRM 17 83 8.13e-15 SMART
low complexity region 112 121 N/A INTRINSIC
low complexity region 140 155 N/A INTRINSIC
low complexity region 175 191 N/A INTRINSIC
low complexity region 210 225 N/A INTRINSIC
low complexity region 260 303 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000164655
AA Change: V154E

PolyPhen 2 Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000133052
Gene: ENSMUSG00000060373
AA Change: V154E

DomainStartEndE-ValueType
RRM 17 83 8.13e-15 SMART
low complexity region 112 121 N/A INTRINSIC
low complexity region 140 155 N/A INTRINSIC
low complexity region 175 191 N/A INTRINSIC
low complexity region 210 225 N/A INTRINSIC
low complexity region 260 303 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000227195
Predicted Effect possibly damaging
Transcript: ENSMUST00000227242
AA Change: V141E

PolyPhen 2 Score 0.738 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000227458
AA Change: V141E

PolyPhen 2 Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000227536
AA Change: V141E

PolyPhen 2 Score 0.738 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect probably damaging
Transcript: ENSMUST00000228232
AA Change: V141E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000228748
AA Change: V141E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect possibly damaging
Transcript: ENSMUST00000228198
AA Change: V154E

PolyPhen 2 Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)
Meta Mutation Damage Score 0.1620 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 100% (69/69)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene can act as a tetramer and is involved in the assembly of 40S hnRNP particles. Multiple transcript variants encoding at least two different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele fail to undergo gastrulation, appear to arrest at the egg cylinder stage, and are resorbed at various times thereafter. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvrl1 A G 15: 101,034,946 (GRCm39) E235G probably damaging Het
Adam26b T C 8: 43,973,028 (GRCm39) D658G probably damaging Het
Adamts12 A G 15: 11,327,843 (GRCm39) R1407G probably benign Het
Aknad1 T C 3: 108,659,306 (GRCm39) S107P probably benign Het
Aknad1 G A 3: 108,659,867 (GRCm39) V294I probably benign Het
Arfgef2 A G 2: 166,718,431 (GRCm39) T1407A probably damaging Het
Atp5f1a C T 18: 77,867,929 (GRCm39) P318S probably damaging Het
Atp9a C T 2: 168,503,983 (GRCm39) V494M possibly damaging Het
Ccdc69 A T 11: 54,943,719 (GRCm39) probably null Het
Crh T C 3: 19,748,093 (GRCm39) E183G probably damaging Het
Cyp2c40 A C 19: 39,791,035 (GRCm39) N265K probably damaging Het
D630003M21Rik C T 2: 158,042,955 (GRCm39) A862T probably benign Het
Dact3 T G 7: 16,609,375 (GRCm39) V9G probably damaging Het
Dnaaf9 A T 2: 130,579,323 (GRCm39) I638N possibly damaging Het
Dnah8 A G 17: 30,965,739 (GRCm39) E2357G probably damaging Het
Dzip1 C T 14: 119,148,805 (GRCm39) M291I probably damaging Het
Etl4 G T 2: 20,344,810 (GRCm39) S38I probably damaging Het
Fyb2 G T 4: 104,852,994 (GRCm39) C558F possibly damaging Het
Galnt3 T C 2: 65,924,050 (GRCm39) E406G probably damaging Het
Golga3 T A 5: 110,332,173 (GRCm39) probably benign Het
Gpr179 T A 11: 97,228,975 (GRCm39) Q1060L possibly damaging Het
Havcr1 A T 11: 46,647,024 (GRCm39) I153F probably benign Het
Kcnj2 C T 11: 110,963,297 (GRCm39) Q230* probably null Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Limch1 T C 5: 67,184,904 (GRCm39) L631P probably damaging Het
Lpin1 T C 12: 16,630,829 (GRCm39) N23S possibly damaging Het
Macf1 A G 4: 123,366,755 (GRCm39) S1104P probably benign Het
Man2b1 A G 8: 85,811,088 (GRCm39) D73G probably damaging Het
Marf1 A G 16: 13,963,942 (GRCm39) F454L probably damaging Het
Mcpt4 T A 14: 56,298,466 (GRCm39) I90L probably benign Het
Mfsd4b5 T C 10: 39,846,668 (GRCm39) E304G probably damaging Het
Mst1r G A 9: 107,788,750 (GRCm39) R423H probably damaging Het
Muc20 G A 16: 32,614,846 (GRCm39) S177L unknown Het
Muc5b A G 7: 141,412,276 (GRCm39) T1741A unknown Het
Myo1g C T 11: 6,465,105 (GRCm39) A447T probably benign Het
Nr1h2 C A 7: 44,199,840 (GRCm39) A360S probably damaging Het
Nufip1 A G 14: 76,349,429 (GRCm39) K154E probably damaging Het
Or12k8 T G 2: 36,974,990 (GRCm39) M257L probably benign Het
Or2a54 T A 6: 43,092,800 (GRCm39) N41K probably damaging Het
Or7e166 G A 9: 19,624,630 (GRCm39) C169Y probably damaging Het
Pecr A T 1: 72,314,136 (GRCm39) probably null Het
Pkd2 G A 5: 104,634,547 (GRCm39) R526Q probably benign Het
Plec T C 15: 76,059,365 (GRCm39) E3551G probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sarm1 G A 11: 78,387,945 (GRCm39) Q114* probably null Het
Sec31a T C 5: 100,553,370 (GRCm39) E112G possibly damaging Het
Slc22a30 G A 19: 8,321,757 (GRCm39) Q436* probably null Het
Slc9a2 G T 1: 40,783,053 (GRCm39) R439L probably damaging Het
Sptb C A 12: 76,659,608 (GRCm39) E1097D probably benign Het
Stk38 A C 17: 29,193,344 (GRCm39) C362G probably benign Het
Stmn2 A T 3: 8,610,635 (GRCm39) M40L probably benign Het
Sytl2 A T 7: 90,024,860 (GRCm39) T283S probably damaging Het
Tcf4 A G 18: 69,775,954 (GRCm39) S48G probably damaging Het
Tlr4 A T 4: 66,759,616 (GRCm39) H803L probably damaging Het
Ttn C T 2: 76,709,432 (GRCm39) probably benign Het
Tyk2 G T 9: 21,018,793 (GRCm39) Q1099K probably damaging Het
Usp30 C T 5: 114,203,755 (GRCm39) probably benign Het
Vmn1r175 A G 7: 23,508,447 (GRCm39) V60A possibly damaging Het
Zc3h12d C A 10: 7,743,582 (GRCm39) P451T possibly damaging Het
Zeb2 T C 2: 44,892,612 (GRCm39) S146G probably benign Het
Zfp236 T A 18: 82,639,548 (GRCm39) N1233I probably damaging Het
Zfp954 A G 7: 7,119,022 (GRCm39) V174A probably damaging Het
Zswim1 G A 2: 164,667,939 (GRCm39) S397N probably benign Het
Other mutations in Hnrnpc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01876:Hnrnpc APN 14 52,319,330 (GRCm39) missense probably null 0.01
IGL02654:Hnrnpc APN 14 52,321,574 (GRCm39) missense probably damaging 0.98
IGL03248:Hnrnpc APN 14 52,312,896 (GRCm39) intron probably benign
R0502:Hnrnpc UTSW 14 52,312,629 (GRCm39) splice site probably benign
R1663:Hnrnpc UTSW 14 52,312,852 (GRCm39) missense probably damaging 1.00
R4496:Hnrnpc UTSW 14 52,312,888 (GRCm39) missense probably benign 0.10
R7555:Hnrnpc UTSW 14 52,312,610 (GRCm39) nonsense probably null
R7570:Hnrnpc UTSW 14 52,312,556 (GRCm39) missense possibly damaging 0.53
R8035:Hnrnpc UTSW 14 52,321,719 (GRCm39) missense possibly damaging 0.95
R8860:Hnrnpc UTSW 14 52,312,792 (GRCm39) missense possibly damaging 0.73
Z1177:Hnrnpc UTSW 14 52,314,886 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- GTGGACATCACCCAGACTCAA -3'
(R):5'- TAGACCAGGCTGGCTTCAAATT -3'

Sequencing Primer
(F):5'- AAGCTCTCAGGGAAGTTCAGTTCTC -3'
(R):5'- GGCTGGCTTCAAATTCAGAAATCC -3'
Posted On 2016-07-06