Incidental Mutation 'R4496:Hnrnpc'
ID 330989
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 041749-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4496 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 52310834-52341485 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 52312888 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 229 (S229P)
Ref Sequence ENSEMBL: ENSMUSP00000133052 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111610] [ENSMUST00000164655] [ENSMUST00000227242] [ENSMUST00000227458] [ENSMUST00000227536] [ENSMUST00000228198] [ENSMUST00000228232] [ENSMUST00000228748]
AlphaFold Q9Z204
Predicted Effect probably benign
Transcript: ENSMUST00000111610
AA Change: S229P

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000107237
Gene: ENSMUSG00000060373
AA Change: S229P

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: ENSMUST00000164655
AA Change: S229P

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000133052
Gene: ENSMUSG00000060373
AA Change: S229P

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 unknown
Transcript: ENSMUST00000227242
AA Change: S216P
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227288
Predicted Effect probably benign
Transcript: ENSMUST00000227458
Predicted Effect unknown
Transcript: ENSMUST00000227536
AA Change: S216P
Predicted Effect probably benign
Transcript: ENSMUST00000228198
Predicted Effect probably benign
Transcript: ENSMUST00000228232
Predicted Effect probably benign
Transcript: ENSMUST00000228748
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 100% (50/50)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,602,947 (GRCm39) L514H possibly damaging Het
Abca7 T C 10: 79,838,768 (GRCm39) F647S probably damaging Het
Ahi1 A G 10: 20,841,444 (GRCm39) K244E probably benign Het
Ankhd1 G A 18: 36,693,839 (GRCm39) D17N probably damaging Het
Arvcf G T 16: 18,223,932 (GRCm39) K890N probably damaging Het
Atosa T A 9: 74,938,813 (GRCm39) S1038T probably damaging Het
Atp11c T C X: 59,326,104 (GRCm39) D478G probably damaging Het
Clasrp C A 7: 19,319,165 (GRCm39) probably benign Het
Clca3a2 C T 3: 144,797,926 (GRCm39) D180N possibly damaging Het
Comt T C 16: 18,230,437 (GRCm39) probably null Het
Cylc2 C G 4: 51,229,651 (GRCm39) T331R unknown Het
Cyp2d11 C T 15: 82,276,149 (GRCm39) probably benign Het
Fam169b G T 7: 68,007,954 (GRCm39) C289F possibly damaging Het
Fastkd5 T C 2: 130,458,501 (GRCm39) T30A probably benign Het
Fchsd2 A C 7: 100,931,702 (GRCm39) T753P probably benign Het
Gatd3a T C 10: 77,999,377 (GRCm39) I145V probably damaging Het
Glis3 G A 19: 28,643,527 (GRCm39) S5L possibly damaging Het
Gpr158 T A 2: 21,831,810 (GRCm39) M970K probably damaging Het
Gpt A T 15: 76,582,663 (GRCm39) Q276L probably damaging Het
Gtf3c3 G T 1: 54,463,291 (GRCm39) S302R probably benign Het
Ikzf5 T C 7: 130,998,393 (GRCm39) probably null Het
Mal2 T C 15: 54,461,835 (GRCm39) V110A probably damaging Het
Mideas C T 12: 84,203,245 (GRCm39) G886S probably benign Het
Myo3b A G 2: 70,084,748 (GRCm39) D702G probably benign Het
Myo9b G A 8: 71,786,981 (GRCm39) R721Q probably benign Het
Nat10 T A 2: 103,588,084 (GRCm39) I14F probably damaging Het
Nat14 C T 7: 4,926,918 (GRCm39) T30M probably damaging Het
Ndst4 C A 3: 125,476,922 (GRCm39) A49D probably damaging Het
Nnt A T 13: 119,518,301 (GRCm39) M292K probably damaging Het
Obox7 C T 7: 14,399,299 (GRCm39) T175I probably benign Het
Or2t26 T A 11: 49,039,214 (GRCm39) N43K possibly damaging Het
Or6c5c T G 10: 129,299,430 (GRCm39) V295G possibly damaging Het
Plekhm3 T C 1: 64,900,395 (GRCm39) E634G probably damaging Het
Plxdc2 T A 2: 16,517,040 (GRCm39) I107K probably damaging Het
Psmb10 T A 8: 106,662,660 (GRCm39) R226S probably damaging Het
Ptprr T A 10: 116,065,407 (GRCm39) V160E possibly damaging Het
Sema5a T A 15: 32,641,133 (GRCm39) L649H probably damaging Het
Sephs1 T A 2: 4,911,494 (GRCm39) I356K probably benign Het
Serpinb3d C T 1: 107,007,022 (GRCm39) V229M probably damaging Het
Slc7a4 T C 16: 17,393,676 (GRCm39) D41G probably damaging Het
Sort1 T C 3: 108,217,461 (GRCm39) V121A probably benign Het
Tcf20 C A 15: 82,739,185 (GRCm39) Q755H probably damaging Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Ttll13 A T 7: 79,906,667 (GRCm39) Y445F probably benign Het
Usp40 T C 1: 87,923,459 (GRCm39) I271V possibly damaging Het
Vmn1r72 A G 7: 11,403,791 (GRCm39) I219T probably damaging 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
R5191:Hnrnpc UTSW 14 52,314,964 (GRCm39) missense probably damaging 1.00
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'- GTAATCACCTGGTCATCCCC -3'
(R):5'- TTCTCTTCTGGAAAGCCTGG -3'

Sequencing Primer
(F):5'- CCCGATCTTCATTATCGTCATCATC -3'
(R):5'- GCAAGCAAGCAGGTAATAGTC -3'
Posted On 2015-07-21