Incidental Mutation 'R6101:Csrnp1'
ID 485264
Institutional Source Beutler Lab
Gene Symbol Csrnp1
Ensembl Gene ENSMUSG00000032515
Gene Name cysteine-serine-rich nuclear protein 1
Synonyms taip-3, Axud1, 4931429D10Rik, CSRNP-1
MMRRC Submission 044251-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6101 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 119800229-119813724 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 119802551 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 220 (D220G)
Ref Sequence ENSEMBL: ENSMUSP00000149214 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035101] [ENSMUST00000177637] [ENSMUST00000213936] [ENSMUST00000214058] [ENSMUST00000215916] [ENSMUST00000216929]
AlphaFold P59054
Predicted Effect probably damaging
Transcript: ENSMUST00000035101
AA Change: D220G

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000035101
Gene: ENSMUSG00000032515
AA Change: D220G

DomainStartEndE-ValueType
low complexity region 17 41 N/A INTRINSIC
Pfam:CSRNP_N 79 304 1.6e-93 PFAM
low complexity region 327 361 N/A INTRINSIC
low complexity region 398 410 N/A INTRINSIC
low complexity region 463 482 N/A INTRINSIC
low complexity region 487 499 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000177637
SMART Domains Protein: ENSMUSP00000136413
Gene: ENSMUSG00000052336

DomainStartEndE-ValueType
Pfam:7tm_1 49 294 3.5e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213936
Predicted Effect probably damaging
Transcript: ENSMUST00000214058
AA Change: D220G

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000215916
AA Change: D220G

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000216929
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that localizes to the nucleus and expression of this gene is induced in response to elevated levels of axin. The Wnt signalling pathway, which is negatively regulated by axin, is important in axis formation in early development and impaired regulation of this signalling pathway is often involved in tumors. A decreased level of expression of this gene in tumors compared to the level of expression in their corresponding normal tissues suggests that this gene product has a tumor suppressor function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit postnatal lethality and skeletal and craniofacial defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam9 A T 8: 25,460,775 (GRCm39) C570S probably damaging Het
Adh6b T A 3: 138,063,471 (GRCm39) I350K possibly damaging Het
Ahnak G A 19: 8,981,463 (GRCm39) V916I probably benign Het
Aldh4a1 C T 4: 139,365,806 (GRCm39) P266S possibly damaging Het
Arhgap11a G A 2: 113,665,219 (GRCm39) R460* probably null Het
Chl1 A T 6: 103,669,993 (GRCm39) D477V probably damaging Het
Clstn3 A T 6: 124,438,629 (GRCm39) L45Q probably damaging Het
Cnot7 C T 8: 40,963,078 (GRCm39) R32Q probably benign Het
Cyb5a G A 18: 84,889,718 (GRCm39) R49Q possibly damaging Het
Fblim1 G A 4: 141,312,033 (GRCm39) R231C probably damaging Het
Glul T A 1: 153,782,177 (GRCm39) Y137* probably null Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Igha T A 12: 113,220,017 (GRCm39) probably benign Het
Kif2b A G 11: 91,466,814 (GRCm39) S490P probably benign Het
Kxd1 A T 8: 70,972,589 (GRCm39) N33K probably benign Het
Lrrk2 T C 15: 91,607,338 (GRCm39) I567T probably benign Het
Man2a2 T C 7: 80,016,749 (GRCm39) D355G probably damaging Het
Map6 T C 7: 98,917,314 (GRCm39) V29A probably damaging Het
Mical3 A T 6: 121,010,671 (GRCm39) V437D probably damaging Het
Mief1 T C 15: 80,133,941 (GRCm39) Y333H probably benign Het
Or12j4 T A 7: 140,046,432 (GRCm39) V106D probably benign Het
Or4f7 A G 2: 111,644,598 (GRCm39) F158L probably benign Het
Or8b52 A G 9: 38,576,916 (GRCm39) S75P probably damaging Het
Or8d2b T C 9: 38,788,604 (GRCm39) L44P possibly damaging Het
Pak1ip1 T A 13: 41,158,361 (GRCm39) L78Q probably damaging Het
Pikfyve A G 1: 65,303,504 (GRCm39) probably null Het
Pinlyp C T 7: 24,245,405 (GRCm39) R5K possibly damaging Het
Pkd1l3 A G 8: 110,367,478 (GRCm39) D1225G probably damaging Het
Pnma8b T A 7: 16,680,493 (GRCm39) S492R probably benign Het
Postn A G 3: 54,279,641 (GRCm39) probably null Het
Ptprq A G 10: 107,416,127 (GRCm39) Y1724H possibly damaging Het
Rpn2 T A 2: 157,152,108 (GRCm39) probably null Het
Scn5a A G 9: 119,351,716 (GRCm39) V755A probably damaging Het
Slc22a30 T C 19: 8,315,232 (GRCm39) probably null Het
Specc1l T C 10: 75,084,466 (GRCm39) S730P probably damaging Het
Steap2 T A 5: 5,725,891 (GRCm39) I378F possibly damaging Het
Tdrd12 A T 7: 35,180,558 (GRCm39) Y818* probably null Het
Thbs4 G T 13: 92,911,993 (GRCm39) Q246K possibly damaging Het
Tnfsf10 A G 3: 27,389,698 (GRCm39) Y253C probably damaging Het
Tnpo3 G T 6: 29,588,042 (GRCm39) C125* probably null Het
Trim58 A G 11: 58,542,441 (GRCm39) N467S probably benign Het
Trpm6 C T 19: 18,831,112 (GRCm39) R1326* probably null Het
Zc3hav1l A G 6: 38,270,012 (GRCm39) V279A probably benign Het
Zfp618 A T 4: 63,051,478 (GRCm39) Q753L probably benign Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L probably damaging Het
Zkscan17 A T 11: 59,394,401 (GRCm39) C67S probably damaging Het
Other mutations in Csrnp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01459:Csrnp1 APN 9 119,802,024 (GRCm39) missense probably damaging 1.00
IGL02348:Csrnp1 APN 9 119,801,709 (GRCm39) missense probably damaging 1.00
R0463:Csrnp1 UTSW 9 119,801,841 (GRCm39) unclassified probably benign
R1530:Csrnp1 UTSW 9 119,802,612 (GRCm39) missense possibly damaging 0.69
R3901:Csrnp1 UTSW 9 119,801,707 (GRCm39) missense probably damaging 1.00
R5851:Csrnp1 UTSW 9 119,802,144 (GRCm39) missense possibly damaging 0.93
R7621:Csrnp1 UTSW 9 119,806,158 (GRCm39) missense probably benign 0.12
R7658:Csrnp1 UTSW 9 119,801,469 (GRCm39) missense probably benign
R8122:Csrnp1 UTSW 9 119,802,273 (GRCm39) missense probably damaging 1.00
R9322:Csrnp1 UTSW 9 119,801,853 (GRCm39) missense probably damaging 1.00
R9352:Csrnp1 UTSW 9 119,801,997 (GRCm39) missense probably benign 0.18
R9768:Csrnp1 UTSW 9 119,801,819 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGGGATTATAGGCACACCC -3'
(R):5'- TGTGGAGCACAGTGTGTACC -3'

Sequencing Primer
(F):5'- CCCCTTATCTTACCCAGTCCGAC -3'
(R):5'- AGCACAGTGTGTACCCCTCC -3'
Posted On 2017-08-16