Incidental Mutation 'R7240:Rnpc3'
ID 563132
Institutional Source Beutler Lab
Gene Symbol Rnpc3
Ensembl Gene ENSMUSG00000027981
Gene Name RNA-binding region (RNP1, RRM) containing 3
Synonyms C030014B17Rik, 2810441O16Rik
MMRRC Submission 045347-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7240 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 113398716-113423798 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 113410480 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 270 (R270S)
Ref Sequence ENSEMBL: ENSMUSP00000089792 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092154] [ENSMUST00000106535] [ENSMUST00000106536]
AlphaFold Q3UZ01
Predicted Effect probably damaging
Transcript: ENSMUST00000092154
AA Change: R270S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000089792
Gene: ENSMUSG00000027981
AA Change: R270S

DomainStartEndE-ValueType
RRM 28 98 2.28e-9 SMART
low complexity region 218 253 N/A INTRINSIC
low complexity region 371 382 N/A INTRINSIC
RRM 419 497 1.35e-11 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000106535
AA Change: R270S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000102145
Gene: ENSMUSG00000027981
AA Change: R270S

DomainStartEndE-ValueType
RRM 28 98 2.28e-9 SMART
low complexity region 218 253 N/A INTRINSIC
low complexity region 371 382 N/A INTRINSIC
RRM 419 497 4.1e-11 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000106536
AA Change: R270S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102146
Gene: ENSMUSG00000027981
AA Change: R270S

DomainStartEndE-ValueType
RRM 28 98 2.28e-9 SMART
low complexity region 218 253 N/A INTRINSIC
low complexity region 371 382 N/A INTRINSIC
RRM 419 497 1.35e-11 SMART
Predicted Effect
SMART Domains Protein: ENSMUSP00000115492
Gene: ENSMUSG00000027981
AA Change: R218S

DomainStartEndE-ValueType
Blast:RRM 2 47 8e-22 BLAST
SCOP:d1urna_ 3 53 4e-4 SMART
low complexity region 167 202 N/A INTRINSIC
low complexity region 320 331 N/A INTRINSIC
RRM 368 446 1.35e-11 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 96% (50/52)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Two types of spliceosomes catalyze splicing of pre-mRNAs. The major U2-type spliceosome is found in all eukaryotes and removes U2-type introns, which represent more than 99% of pre-mRNA introns. The minor U12-type spliceosome is found in some eukaryotes and removes U12-type introns, which are rare and have distinct splice consensus signals. The U12-type spliceosome consists of several small nuclear RNAs and associated proteins. This gene encodes a 65K protein that is a component of the U12-type spliceosome. This protein contains two RNA recognition motifs (RRMs), suggesting that it may contact one of the small nuclear RNAs of the minor spliceosome. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210017I01Rik A G 3: 92,512,382 (GRCm39) I59T unknown Het
Aspm C T 1: 139,406,389 (GRCm39) Q1759* probably null Het
Atn1 A T 6: 124,724,861 (GRCm39) I124K unknown Het
Catsper2 TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT 2: 121,228,053 (GRCm39) probably benign Het
Ccdc88c C T 12: 100,911,198 (GRCm39) V879M probably benign Het
Cd300c A G 11: 114,850,609 (GRCm39) C65R possibly damaging Het
Cd69 A T 6: 129,247,005 (GRCm39) S112T possibly damaging Het
Cdh19 T C 1: 110,821,137 (GRCm39) T534A probably benign Het
Cdk5rap2 T A 4: 70,210,145 (GRCm39) D701V probably damaging Het
D130052B06Rik A G 11: 33,573,874 (GRCm39) H157R possibly damaging Het
Dpf1 T A 7: 29,011,052 (GRCm39) F150L probably benign Het
Dsg1c T C 18: 20,416,166 (GRCm39) L689P probably damaging Het
Dstyk G A 1: 132,381,861 (GRCm39) M538I probably benign Het
E4f1 T A 17: 24,663,299 (GRCm39) I669F probably damaging Het
Gm7138 T C 10: 77,612,589 (GRCm39) T64A unknown Het
Gnai2 A C 9: 107,492,972 (GRCm39) D310E Het
Iqca1 A G 1: 89,998,272 (GRCm39) V567A possibly damaging Het
Iqgap1 A T 7: 80,409,587 (GRCm39) N249K probably benign Het
Lamc1 A G 1: 153,110,396 (GRCm39) V1093A possibly damaging Het
Mfap3 A G 11: 57,420,582 (GRCm39) K188E probably damaging Het
N4bp2 T A 5: 65,951,888 (GRCm39) V431D probably damaging Het
Notch4 A G 17: 34,795,445 (GRCm39) T792A probably benign Het
Ntn4 A G 10: 93,581,603 (GRCm39) H592R probably damaging Het
Ofcc1 A G 13: 40,362,317 (GRCm39) C202R probably benign Het
Or10j2 T C 1: 173,098,561 (GRCm39) I273T probably benign Het
Or2a7 A G 6: 43,151,435 (GRCm39) K172E probably benign Het
Or5p55 T C 7: 107,567,395 (GRCm39) S264P probably benign Het
Or5p72 A G 7: 108,022,140 (GRCm39) M121V probably damaging Het
Or8b55 A G 9: 38,727,009 (GRCm39) D70G probably benign Het
Or8g24 A T 9: 38,989,906 (GRCm39) M45K probably damaging Het
Parpbp G A 10: 87,960,802 (GRCm39) T228I probably damaging Het
Pcdhgb8 G A 18: 37,896,756 (GRCm39) V609M probably damaging Het
Pla2g4d T C 2: 120,100,830 (GRCm39) N543S probably damaging Het
Puf60 A G 15: 75,944,388 (GRCm39) probably benign Het
Rbm6 A T 9: 107,730,095 (GRCm39) D184E probably damaging Het
Rnase9 A C 14: 51,276,436 (GRCm39) S181A probably benign Het
Rundc1 T C 11: 101,322,374 (GRCm39) probably null Het
Ryr1 T C 7: 28,751,440 (GRCm39) S3715G possibly damaging Het
Scn3a A T 2: 65,299,386 (GRCm39) D1373E possibly damaging Het
Serpina3k T G 12: 104,306,861 (GRCm39) I31S probably benign Het
Sipa1l2 A G 8: 126,196,599 (GRCm39) F712L probably damaging Het
Slc22a29 A G 19: 8,138,875 (GRCm39) V529A probably damaging Het
Tdrd3 A G 14: 87,696,239 (GRCm39) N58S probably benign Het
Tmc2 C T 2: 130,076,724 (GRCm39) T350I possibly damaging Het
Tpst2 T C 5: 112,455,544 (GRCm39) C28R probably benign Het
Trbv21 A T 6: 41,179,892 (GRCm39) K69N probably benign Het
Trpm2 A G 10: 77,771,710 (GRCm39) probably null Het
Ttn A G 2: 76,679,334 (GRCm39) V10796A unknown Het
Ush2a A G 1: 188,643,858 (GRCm39) T4407A possibly damaging Het
Vmn2r95 A G 17: 18,672,225 (GRCm39) H726R probably benign Het
Zfp777 A G 6: 48,021,383 (GRCm39) S80P probably benign Het
Other mutations in Rnpc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02365:Rnpc3 APN 3 113,402,048 (GRCm39) missense probably damaging 1.00
IGL02750:Rnpc3 APN 3 113,415,588 (GRCm39) missense possibly damaging 0.81
R0316:Rnpc3 UTSW 3 113,423,622 (GRCm39) missense probably damaging 1.00
R0420:Rnpc3 UTSW 3 113,415,518 (GRCm39) missense probably benign 0.00
R0601:Rnpc3 UTSW 3 113,413,755 (GRCm39) missense probably benign 0.18
R1051:Rnpc3 UTSW 3 113,423,595 (GRCm39) missense possibly damaging 0.94
R1386:Rnpc3 UTSW 3 113,407,433 (GRCm39) nonsense probably null
R1865:Rnpc3 UTSW 3 113,415,559 (GRCm39) nonsense probably null
R1870:Rnpc3 UTSW 3 113,404,704 (GRCm39) unclassified probably benign
R2045:Rnpc3 UTSW 3 113,402,009 (GRCm39) missense possibly damaging 0.90
R4447:Rnpc3 UTSW 3 113,404,786 (GRCm39) unclassified probably benign
R4450:Rnpc3 UTSW 3 113,404,786 (GRCm39) unclassified probably benign
R4934:Rnpc3 UTSW 3 113,418,628 (GRCm39) missense possibly damaging 0.86
R5436:Rnpc3 UTSW 3 113,418,648 (GRCm39) missense probably damaging 1.00
R5474:Rnpc3 UTSW 3 113,409,158 (GRCm39) nonsense probably null
R5498:Rnpc3 UTSW 3 113,404,856 (GRCm39) critical splice donor site probably null
R5505:Rnpc3 UTSW 3 113,409,102 (GRCm39) missense probably damaging 0.98
R5868:Rnpc3 UTSW 3 113,410,360 (GRCm39) splice site probably null
R6123:Rnpc3 UTSW 3 113,402,705 (GRCm39) splice site probably null
R7220:Rnpc3 UTSW 3 113,422,004 (GRCm39) missense probably benign 0.01
R7507:Rnpc3 UTSW 3 113,410,410 (GRCm39) missense probably benign
R7537:Rnpc3 UTSW 3 113,407,481 (GRCm39) missense probably benign
R7818:Rnpc3 UTSW 3 113,423,600 (GRCm39) missense probably damaging 1.00
R7872:Rnpc3 UTSW 3 113,416,096 (GRCm39) nonsense probably null
R8738:Rnpc3 UTSW 3 113,414,805 (GRCm39) missense probably benign 0.13
R9269:Rnpc3 UTSW 3 113,404,895 (GRCm39) missense probably damaging 0.97
R9375:Rnpc3 UTSW 3 113,404,913 (GRCm39) missense probably damaging 1.00
RF023:Rnpc3 UTSW 3 113,413,723 (GRCm39) missense probably damaging 0.98
X0012:Rnpc3 UTSW 3 113,423,558 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCGGTCAACAAAGTAAACTGAC -3'
(R):5'- GGAACCAGATGCTTGCTTATTG -3'

Sequencing Primer
(F):5'- GGTCAACAAAGTAAACTGACAAACTG -3'
(R):5'- ATGGTGCAGGTTAATTTAGAAAGTG -3'
Posted On 2019-06-26