Incidental Mutation 'IGL02984:Csrnp3'
ID 453258
Institutional Source Beutler Lab
Gene Symbol Csrnp3
Ensembl Gene ENSMUSG00000044647
Gene Name cysteine-serine-rich nuclear protein 3
Synonyms mbu1, CSRNP-3, A330102K23Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.210) question?
Stock # IGL02984 (G1)
Quality Score 120
Status Validated
Chromosome 2
Chromosomal Location 65676111-65861890 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 65852553 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 315 (D315G)
Ref Sequence ENSEMBL: ENSMUSP00000135019 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053910] [ENSMUST00000112394] [ENSMUST00000112397] [ENSMUST00000122912] [ENSMUST00000145598] [ENSMUST00000176109]
AlphaFold P59055
Predicted Effect probably benign
Transcript: ENSMUST00000053910
AA Change: D327G

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000055719
Gene: ENSMUSG00000044647
AA Change: D327G

DomainStartEndE-ValueType
low complexity region 31 52 N/A INTRINSIC
low complexity region 123 140 N/A INTRINSIC
low complexity region 161 176 N/A INTRINSIC
Blast:CXC 221 268 3e-15 BLAST
low complexity region 342 359 N/A INTRINSIC
low complexity region 377 400 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112394
AA Change: D315G

PolyPhen 2 Score 0.372 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000108013
Gene: ENSMUSG00000044647
AA Change: D315G

DomainStartEndE-ValueType
low complexity region 19 40 N/A INTRINSIC
low complexity region 111 128 N/A INTRINSIC
low complexity region 149 164 N/A INTRINSIC
Blast:CXC 209 256 3e-15 BLAST
low complexity region 330 347 N/A INTRINSIC
low complexity region 365 388 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112397
SMART Domains Protein: ENSMUSP00000135151
Gene: ENSMUSG00000044647

DomainStartEndE-ValueType
low complexity region 31 52 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000122912
AA Change: D327G

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000117533
Gene: ENSMUSG00000044647
AA Change: D327G

DomainStartEndE-ValueType
low complexity region 31 52 N/A INTRINSIC
Pfam:CSRNP_N 70 291 5e-107 PFAM
low complexity region 342 359 N/A INTRINSIC
low complexity region 377 400 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000145598
AA Change: D315G

PolyPhen 2 Score 0.372 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000135605
Gene: ENSMUSG00000044647
AA Change: D315G

DomainStartEndE-ValueType
low complexity region 19 40 N/A INTRINSIC
low complexity region 111 128 N/A INTRINSIC
low complexity region 149 164 N/A INTRINSIC
Blast:CXC 209 256 3e-15 BLAST
low complexity region 330 347 N/A INTRINSIC
low complexity region 365 388 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176109
AA Change: D315G

PolyPhen 2 Score 0.372 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000135019
Gene: ENSMUSG00000044647
AA Change: D315G

DomainStartEndE-ValueType
low complexity region 19 40 N/A INTRINSIC
low complexity region 111 128 N/A INTRINSIC
low complexity region 149 164 N/A INTRINSIC
Blast:CXC 209 256 3e-15 BLAST
low complexity region 330 347 N/A INTRINSIC
low complexity region 365 388 N/A INTRINSIC
Meta Mutation Damage Score 0.2330 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 100% (43/43)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal development, hematopoiesis and T cell function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik T A 5: 88,120,662 (GRCm39) I473N probably damaging Het
4933416I08Rik TCC TCCC X: 52,692,862 (GRCm39) noncoding transcript Het
A530064D06Rik T C 17: 48,470,448 (GRCm39) I178V probably benign Het
Acvr1b A G 15: 101,100,959 (GRCm39) R374G probably damaging Het
Aldh1l2 G A 10: 83,363,199 (GRCm39) P55S probably damaging Het
Bglap3 T C 3: 88,276,098 (GRCm39) T85A possibly damaging Het
Cilp TGGG TGG 9: 65,187,412 (GRCm39) probably null Het
Crb1 CG C 1: 139,164,824 (GRCm39) probably null Het
Dclk3 T C 9: 111,317,643 (GRCm39) Y760H probably damaging Het
Eef1akmt2 A G 7: 132,438,935 (GRCm39) *52R probably null Het
Epc2 A G 2: 49,418,866 (GRCm39) K225E probably damaging Het
Fcna G C 2: 25,520,693 (GRCm39) probably benign Het
Foxi2 C T 7: 135,012,127 (GRCm39) T5M possibly damaging Het
Frmd4b T A 6: 97,273,221 (GRCm39) T670S probably damaging Het
Gm14137 G T 2: 119,005,961 (GRCm39) E173D probably damaging Het
Kif12 GGGGC GGGGCCTCCACCCGGCGGGC 4: 63,089,660 (GRCm39) probably benign Het
Mfsd4b3-ps G A 10: 39,823,184 (GRCm39) probably benign Het
Mlst8 A G 17: 24,695,127 (GRCm39) F252S probably damaging Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Mogs A G 6: 83,094,296 (GRCm39) K371R probably benign Het
Nsun2 T C 13: 69,691,727 (GRCm39) probably benign Het
Otog T A 7: 45,954,932 (GRCm39) C2702S probably damaging Het
Plekhg4 A G 8: 106,107,020 (GRCm39) E905G probably damaging Het
Rtn4rl1 T C 11: 75,156,087 (GRCm39) V173A probably benign Het
Sall3 T C 18: 81,016,665 (GRCm39) E421G probably benign Het
Setd6 G A 8: 96,442,903 (GRCm39) probably null Het
Sh3tc1 T C 5: 35,871,403 (GRCm39) probably null Het
Slc35f5 T A 1: 125,490,250 (GRCm39) Y71N probably benign Het
Snx1 A G 9: 65,996,390 (GRCm39) probably benign Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
Sspo T C 6: 48,472,089 (GRCm39) V792A probably benign Het
Sufu C A 19: 46,462,038 (GRCm39) D350E probably benign Het
Trav18 C A 14: 54,069,026 (GRCm39) Q23K probably damaging Het
Ugt1a1 AT A 1: 88,140,093 (GRCm39) probably null Het
Usp17le T A 7: 104,418,311 (GRCm39) H277L probably benign Het
Wdsub1 A G 2: 59,707,173 (GRCm39) S20P probably damaging Het
Other mutations in Csrnp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01676:Csrnp3 APN 2 65,779,336 (GRCm39) missense probably damaging 0.99
IGL02427:Csrnp3 APN 2 65,708,380 (GRCm39) utr 5 prime probably benign
IGL02558:Csrnp3 APN 2 65,852,573 (GRCm39) missense probably damaging 1.00
IGL02605:Csrnp3 APN 2 65,853,153 (GRCm39) missense probably damaging 1.00
Uncle UTSW 2 65,852,615 (GRCm39) missense probably benign 0.34
R0417:Csrnp3 UTSW 2 65,849,887 (GRCm39) missense probably benign 0.43
R0709:Csrnp3 UTSW 2 65,852,907 (GRCm39) missense probably damaging 0.99
R1340:Csrnp3 UTSW 2 65,832,740 (GRCm39) missense probably damaging 1.00
R1712:Csrnp3 UTSW 2 65,832,826 (GRCm39) missense probably damaging 1.00
R1960:Csrnp3 UTSW 2 65,853,363 (GRCm39) missense probably null 1.00
R1997:Csrnp3 UTSW 2 65,779,446 (GRCm39) missense probably damaging 1.00
R4839:Csrnp3 UTSW 2 65,852,375 (GRCm39) nonsense probably null
R5233:Csrnp3 UTSW 2 65,852,684 (GRCm39) missense possibly damaging 0.95
R5340:Csrnp3 UTSW 2 65,852,781 (GRCm39) missense probably benign 0.00
R6157:Csrnp3 UTSW 2 65,779,363 (GRCm39) missense probably damaging 1.00
R6781:Csrnp3 UTSW 2 65,852,615 (GRCm39) missense probably benign 0.34
R6974:Csrnp3 UTSW 2 65,779,408 (GRCm39) missense possibly damaging 0.59
R7120:Csrnp3 UTSW 2 65,853,354 (GRCm39) missense probably damaging 1.00
R7293:Csrnp3 UTSW 2 65,779,344 (GRCm39) missense probably damaging 1.00
R8250:Csrnp3 UTSW 2 65,852,562 (GRCm39) missense probably damaging 0.99
R8478:Csrnp3 UTSW 2 65,708,400 (GRCm39) splice site probably null
R8899:Csrnp3 UTSW 2 65,852,987 (GRCm39) missense possibly damaging 0.71
R9396:Csrnp3 UTSW 2 65,832,841 (GRCm39) missense probably damaging 1.00
R9477:Csrnp3 UTSW 2 65,852,819 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGAATTCAATCCTATCCGTGTCCG -3'
(R):5'- CTCCGAGCCCTTCTACAAAG -3'

Sequencing Primer
(F):5'- GTCCGGACTCATTTTTTGC -3'
(R):5'- ACAAAGCCATCTCCCTTGTCG -3'
Posted On 2017-02-01