Incidental Mutation 'R5429:Csrnp2'
ID 427092
Institutional Source Beutler Lab
Gene Symbol Csrnp2
Ensembl Gene ENSMUSG00000044636
Gene Name cysteine-serine-rich nuclear protein 2
Synonyms CSRNP-2
MMRRC Submission 042995-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5429 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 100479570-100495488 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 100482054 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 452 (V452A)
Ref Sequence ENSEMBL: ENSMUSP00000052144 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037001] [ENSMUST00000061457] [ENSMUST00000229012] [ENSMUST00000229648] [ENSMUST00000230294]
AlphaFold Q8BGQ2
Predicted Effect probably benign
Transcript: ENSMUST00000037001
SMART Domains Protein: ENSMUSP00000037546
Gene: ENSMUSG00000037353

Pfam:LETM1 78 346 1.5e-72 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000061457
AA Change: V452A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000052144
Gene: ENSMUSG00000044636
AA Change: V452A

low complexity region 14 40 N/A INTRINSIC
Pfam:CSRNP_N 61 280 5e-106 PFAM
low complexity region 330 349 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000229012
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229372
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229596
Predicted Effect probably benign
Transcript: ENSMUST00000229648
Predicted Effect probably benign
Transcript: ENSMUST00000230294
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231001
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the CSRNP family of nuclear proteins that share conserved regions, including cysteine- and serine- rich regions, a basic domain, a transcriptional activation domain, and bind the sequence 'AGAGTG', thus have the hallmark of transcription factors. Studies in mice suggest that these genes may have redundant functions. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and healthy and display normal development, hematopoiesis and T cell function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap13 T G 7: 75,602,904 (GRCm38) S261A possibly damaging Het
Ankrd34a G A 3: 96,597,521 (GRCm38) G14R probably damaging Het
Auts2 G A 5: 131,472,335 (GRCm38) T289M probably damaging Het
Btaf1 G A 19: 36,994,857 (GRCm38) V1331I possibly damaging Het
Ciz1 T A 2: 32,376,043 (GRCm38) I609K possibly damaging Het
Clca3b C T 3: 144,846,459 (GRCm38) V154I probably damaging Het
Csde1 A G 3: 103,052,841 (GRCm38) T564A possibly damaging Het
Ctnnd1 C T 2: 84,616,789 (GRCm38) V371M probably damaging Het
Dock6 T C 9: 21,832,881 (GRCm38) D677G probably damaging Het
Filip1l A T 16: 57,570,255 (GRCm38) E402V probably damaging Het
Gad1-ps G A 10: 99,445,147 (GRCm38) noncoding transcript Het
Ghr G A 15: 3,388,675 (GRCm38) Q37* probably null Het
Gm10770 C T 2: 150,179,423 (GRCm38) R58H probably benign Het
Gm12789 T C 4: 101,989,961 (GRCm38) Y148H possibly damaging Het
Herc4 T A 10: 63,275,013 (GRCm38) N234K probably benign Het
Itih3 A G 14: 30,923,521 (GRCm38) V10A probably benign Het
Kat14 T A 2: 144,393,323 (GRCm38) D234E probably benign Het
Kif13a A G 13: 46,772,769 (GRCm38) probably null Het
Kif2b A G 11: 91,577,229 (GRCm38) V76A probably benign Het
Mboat1 A G 13: 30,219,667 (GRCm38) T150A probably benign Het
Mfsd1 T A 3: 67,599,960 (GRCm38) L398H probably damaging Het
Myt1l G A 12: 29,832,332 (GRCm38) G509R unknown Het
Nfx1 T C 4: 41,004,343 (GRCm38) C705R probably damaging Het
Or13a27 A G 7: 140,345,273 (GRCm38) F239L possibly damaging Het
Or2ak5 T A 11: 58,720,524 (GRCm38) N175Y probably damaging Het
Pcdh10 T C 3: 45,384,200 (GRCm38) S931P probably benign Het
Pdpk1 T C 17: 24,091,560 (GRCm38) E205G probably benign Het
Ppp2r2a A T 14: 67,023,756 (GRCm38) F172I probably damaging Het
Ppp2r5e T A 12: 75,453,763 (GRCm38) D452V probably damaging Het
Rims2 A T 15: 39,345,355 (GRCm38) T185S probably damaging Het
Rpusd4 T C 9: 35,272,602 (GRCm38) V209A probably benign Het
Safb T C 17: 56,588,822 (GRCm38) V20A probably benign Het
Scaf8 C A 17: 3,197,110 (GRCm38) P903T probably benign Het
Slc30a7 A G 3: 116,006,925 (GRCm38) S31P possibly damaging Het
Slc9b1 T C 3: 135,373,263 (GRCm38) probably null Het
Sntb1 C G 15: 55,642,795 (GRCm38) G461R probably damaging Het
Tbc1d32 T C 10: 56,027,993 (GRCm38) D1226G probably damaging Het
Tlnrd1 G T 7: 83,882,314 (GRCm38) T303N probably damaging Het
Tmc1 G T 19: 20,789,622 (GRCm38) N738K possibly damaging Het
Tmem41a A G 16: 21,934,856 (GRCm38) I255T probably benign Het
Trim7 G A 11: 48,849,955 (GRCm38) C293Y probably damaging Het
Trpc6 C T 9: 8,634,074 (GRCm38) Q385* probably null Het
Ttc39b A G 4: 83,243,953 (GRCm38) I330T possibly damaging Het
Vil1 C T 1: 74,432,331 (GRCm38) T757I probably benign Het
Zfp462 T C 4: 55,060,077 (GRCm38) V1201A probably damaging Het
Zfp473 T A 7: 44,732,848 (GRCm38) E686V possibly damaging Het
Zfp998 G A 13: 66,431,828 (GRCm38) P199S probably benign Het
Other mutations in Csrnp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01617:Csrnp2 APN 15 100,484,643 (GRCm38) missense probably benign 0.21
R0674:Csrnp2 UTSW 15 100,487,991 (GRCm38) missense probably damaging 1.00
R1988:Csrnp2 UTSW 15 100,489,440 (GRCm38) missense probably damaging 1.00
R3683:Csrnp2 UTSW 15 100,481,998 (GRCm38) missense probably benign
R4688:Csrnp2 UTSW 15 100,482,360 (GRCm38) missense probably damaging 0.97
R4846:Csrnp2 UTSW 15 100,484,690 (GRCm38) missense probably damaging 1.00
R5678:Csrnp2 UTSW 15 100,481,804 (GRCm38) makesense probably null
R6056:Csrnp2 UTSW 15 100,482,382 (GRCm38) missense probably benign 0.23
R6765:Csrnp2 UTSW 15 100,482,693 (GRCm38) missense probably damaging 1.00
R6925:Csrnp2 UTSW 15 100,481,958 (GRCm38) missense probably benign 0.03
R7513:Csrnp2 UTSW 15 100,482,416 (GRCm38) missense probably benign 0.10
R7697:Csrnp2 UTSW 15 100,488,072 (GRCm38) missense probably damaging 1.00
R8081:Csrnp2 UTSW 15 100,489,581 (GRCm38) missense probably damaging 0.98
R9582:Csrnp2 UTSW 15 100,488,186 (GRCm38) missense possibly damaging 0.94
X0020:Csrnp2 UTSW 15 100,484,703 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-09-01