Incidental Mutation 'R9582:Csrnp2'
ID 722626
Institutional Source Beutler Lab
Gene Symbol Csrnp2
Ensembl Gene ENSMUSG00000044636
Gene Name cysteine-serine-rich nuclear protein 2
Synonyms CSRNP-2
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9582 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 100377451-100393120 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 100386067 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Lysine at position 57 (R57K)
Ref Sequence ENSEMBL: ENSMUSP00000052144 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061457]
AlphaFold Q8BGQ2
Predicted Effect possibly damaging
Transcript: ENSMUST00000061457
AA Change: R57K

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000052144
Gene: ENSMUSG00000044636
AA Change: R57K

DomainStartEndE-ValueType
low complexity region 14 40 N/A INTRINSIC
Pfam:CSRNP_N 61 280 5e-106 PFAM
low complexity region 330 349 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T A 3: 137,772,766 (GRCm39) F652I probably damaging Het
Adam17 A T 12: 21,386,665 (GRCm39) I457K probably benign Het
Arpin T C 7: 79,585,038 (GRCm39) probably benign Het
Bhlhe40 A G 6: 108,638,467 (GRCm39) E51G probably benign Het
Ces1a C T 8: 93,766,156 (GRCm39) D153N probably benign Het
Cog7 T C 7: 121,536,200 (GRCm39) M547V probably benign Het
Dact1 A T 12: 71,365,619 (GRCm39) K763M probably damaging Het
Ddost A T 4: 138,035,583 (GRCm39) I101F possibly damaging Het
Dyrk1b C T 7: 27,882,028 (GRCm39) R130W probably damaging Het
Ep400 A C 5: 110,824,315 (GRCm39) probably null Het
Fam227a A G 15: 79,501,978 (GRCm39) V532A probably benign Het
Flnc C A 6: 29,460,736 (GRCm39) T2609K probably damaging Het
Gbp10 A G 5: 105,372,256 (GRCm39) V168A probably benign Het
Gp5 A G 16: 30,127,057 (GRCm39) V539A probably benign Het
H2-T13 T A 17: 36,392,375 (GRCm39) R33S unknown Het
Itih5 A G 2: 10,195,013 (GRCm39) E135G probably benign Het
L2hgdh A G 12: 69,739,172 (GRCm39) V433A probably benign Het
Leng9 A G 7: 4,152,263 (GRCm39) S138P probably damaging Het
Ltbp2 G A 12: 84,837,864 (GRCm39) P1192L probably benign Het
Ly6g6e T C 17: 35,296,159 (GRCm39) V10A probably benign Het
Lypla1 C T 1: 4,911,248 (GRCm39) P178S probably benign Het
Mark1 A G 1: 184,651,858 (GRCm39) F216L possibly damaging Het
Mertk G A 2: 128,624,527 (GRCm39) R646Q possibly damaging Het
Mmp9 A C 2: 164,791,235 (GRCm39) D135A probably benign Het
Nefl A G 14: 68,324,849 (GRCm39) K529E unknown Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Nwd1 A G 8: 73,421,917 (GRCm39) T988A probably damaging Het
P4ha2 T A 11: 54,022,065 (GRCm39) C529* probably null Het
Pcdhb4 T A 18: 37,441,417 (GRCm39) F242L probably damaging Het
Pced1b A G 15: 97,282,450 (GRCm39) N163S probably damaging Het
Pde8b A G 13: 95,169,369 (GRCm39) V585A probably damaging Het
Pknox2 T A 9: 36,804,252 (GRCm39) T432S probably damaging Het
Rad18 A G 6: 112,658,298 (GRCm39) probably null Het
Rpgrip1l C T 8: 91,996,886 (GRCm39) V665I probably benign Het
Rreb1 A G 13: 38,114,734 (GRCm39) I698V probably benign Het
Schip1 TCTGGCC TC 3: 68,525,060 (GRCm39) probably null Het
Slc2a4 C T 11: 69,837,450 (GRCm39) V32M probably damaging Het
Slc40a1 A G 1: 45,950,499 (GRCm39) Y318H probably damaging Het
Spag16 A G 1: 69,897,717 (GRCm39) T156A probably benign Het
Srebf1 C A 11: 60,097,868 (GRCm39) A103S probably benign Het
Sspn C T 6: 145,899,334 (GRCm39) probably benign Het
Stoml2 A T 4: 43,030,238 (GRCm39) probably null Het
Stra6 T A 9: 58,054,770 (GRCm39) V319E probably damaging Het
Syt7 T C 19: 10,416,780 (GRCm39) F414L probably damaging Het
Tet3 G T 6: 83,381,226 (GRCm39) P314Q probably damaging Het
Tnrc18 A T 5: 142,757,128 (GRCm39) L1313Q Het
Topors A T 4: 40,260,460 (GRCm39) D941E unknown Het
Txnip T A 3: 96,465,659 (GRCm39) C36* probably null Het
Uba3 A T 6: 97,168,491 (GRCm39) M178K probably damaging Het
Vmn1r6 A G 6: 56,979,925 (GRCm39) T196A probably benign Het
Vwc2 T A 11: 11,066,129 (GRCm39) S72R probably benign Het
Wnk2 A G 13: 49,210,975 (GRCm39) S1627P probably benign Het
Other mutations in Csrnp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01617:Csrnp2 APN 15 100,382,524 (GRCm39) missense probably benign 0.21
R0674:Csrnp2 UTSW 15 100,385,872 (GRCm39) missense probably damaging 1.00
R1988:Csrnp2 UTSW 15 100,387,321 (GRCm39) missense probably damaging 1.00
R3683:Csrnp2 UTSW 15 100,379,879 (GRCm39) missense probably benign
R4688:Csrnp2 UTSW 15 100,380,241 (GRCm39) missense probably damaging 0.97
R4846:Csrnp2 UTSW 15 100,382,571 (GRCm39) missense probably damaging 1.00
R5429:Csrnp2 UTSW 15 100,379,935 (GRCm39) missense probably benign
R5678:Csrnp2 UTSW 15 100,379,685 (GRCm39) makesense probably null
R6056:Csrnp2 UTSW 15 100,380,263 (GRCm39) missense probably benign 0.23
R6765:Csrnp2 UTSW 15 100,380,574 (GRCm39) missense probably damaging 1.00
R6925:Csrnp2 UTSW 15 100,379,839 (GRCm39) missense probably benign 0.03
R7513:Csrnp2 UTSW 15 100,380,297 (GRCm39) missense probably benign 0.10
R7697:Csrnp2 UTSW 15 100,385,953 (GRCm39) missense probably damaging 1.00
R8081:Csrnp2 UTSW 15 100,387,462 (GRCm39) missense probably damaging 0.98
X0020:Csrnp2 UTSW 15 100,382,584 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTTGCGCAAACTCACAGAGG -3'
(R):5'- AGACTTGGAAATAGCCTCTCTCAG -3'

Sequencing Primer
(F):5'- CACAGAGGGTGTAGCTGCGTAC -3'
(R):5'- CAGATTTCTGAGTTCAAGGCCAGC -3'
Posted On 2022-08-09