Incidental Mutation 'R7621:Csrnp1'
ID 589152
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 045688-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7621 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 119800229-119813724 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 119806158 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 39 (A39S)
Ref Sequence ENSEMBL: ENSMUSP00000035101 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035101] [ENSMUST00000177637] [ENSMUST00000213936] [ENSMUST00000214058] [ENSMUST00000215916] [ENSMUST00000216929]
AlphaFold P59054
Predicted Effect probably benign
Transcript: ENSMUST00000035101
AA Change: A39S

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000035101
Gene: ENSMUSG00000032515
AA Change: A39S

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
AA Change: A39S

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000214058
AA Change: A39S

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000215916
AA Change: A39S

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000216929
AA Change: A39S

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (45/45)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T A 11: 110,051,359 (GRCm39) K112N probably benign Het
Brwd1 A G 16: 95,866,087 (GRCm39) S232P probably damaging Het
Calm5 A T 13: 3,904,629 (GRCm39) M108L possibly damaging Het
Ces1g A T 8: 94,055,094 (GRCm39) V201D probably damaging Het
Cltc C A 11: 86,598,312 (GRCm39) V1017L probably benign Het
Cpt1c C T 7: 44,616,516 (GRCm39) R245Q probably damaging Het
Elf1 A G 14: 79,808,322 (GRCm39) D258G possibly damaging Het
Entrep1 A C 19: 23,972,168 (GRCm39) S179A possibly damaging Het
Glipr1l1 A T 10: 111,896,300 (GRCm39) D29V probably benign Het
Gm4340 T C 10: 104,031,820 (GRCm39) V188A probably benign Het
Gsdma2 T C 11: 98,540,375 (GRCm39) M98T probably benign Het
Hars1 A T 18: 36,903,476 (GRCm39) D315E probably benign Het
Hsph1 A C 5: 149,555,540 (GRCm39) Y89D probably damaging Het
Ighv11-2 T A 12: 114,012,008 (GRCm39) D69V probably benign Het
Kirrel1 C T 3: 86,995,528 (GRCm39) G438D possibly damaging Het
Krt6a G T 15: 101,600,187 (GRCm39) T355K possibly damaging Het
Lce1m T C 3: 92,925,177 (GRCm39) probably null Het
Lmbrd1 A T 1: 24,767,625 (GRCm39) probably null Het
Lmtk3 A G 7: 45,442,841 (GRCm39) E508G probably damaging Het
Lrrc2 G A 9: 110,809,899 (GRCm39) V312I probably benign Het
Lyn A T 4: 3,789,834 (GRCm39) K477* probably null Het
Nfe2l2 T C 2: 75,509,757 (GRCm39) D21G probably damaging Het
Or14c45 G A 7: 86,176,280 (GRCm39) C105Y probably benign Het
Or4f14d T C 2: 111,960,926 (GRCm39) T77A probably benign Het
Or55b3 G A 7: 102,126,472 (GRCm39) R202C possibly damaging Het
Or8c15 T C 9: 38,120,447 (GRCm39) F31L probably benign Het
Pgap6 C A 17: 26,336,865 (GRCm39) P261Q probably benign Het
Pkm T A 9: 59,585,441 (GRCm39) C474* probably null Het
Prr36 T A 8: 4,263,150 (GRCm39) I839F unknown Het
Qtrt2 A G 16: 43,689,303 (GRCm39) probably null Het
Ripk4 A T 16: 97,547,125 (GRCm39) V379E probably damaging Het
Rreb1 C A 13: 38,133,042 (GRCm39) P304Q Het
Saxo2 A T 7: 82,297,625 (GRCm39) C5S possibly damaging Het
Scart2 G A 7: 139,876,742 (GRCm39) G711D probably damaging Het
Sema5a C A 15: 32,609,378 (GRCm39) T428N possibly damaging Het
Setd5 C A 6: 113,121,010 (GRCm39) P1073Q possibly damaging Het
Sh2d5 T G 4: 137,984,150 (GRCm39) C173G probably benign Het
Slc4a10 T G 2: 62,080,823 (GRCm39) V350G probably damaging Het
Slco1a6 A G 6: 142,106,743 (GRCm39) C15R probably damaging Het
Smg7 A T 1: 152,717,295 (GRCm39) F940Y possibly damaging Het
Spata17 T A 1: 186,854,833 (GRCm39) probably null Het
Specc1 A G 11: 62,019,210 (GRCm39) N603S possibly damaging Het
Tbc1d1 A G 5: 64,421,673 (GRCm39) D355G probably damaging Het
Thbs2 T C 17: 14,894,426 (GRCm39) D807G probably benign Het
Usp53 T C 3: 122,754,934 (GRCm39) T174A probably benign Het
Vmn2r52 A G 7: 9,907,274 (GRCm39) Y151H probably benign Het
Wdr12 G A 1: 60,136,748 (GRCm39) probably benign 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
R6101:Csrnp1 UTSW 9 119,802,551 (GRCm39) missense probably damaging 0.97
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'- CAAGGTGTCTCTGCAGAGTG -3'
(R):5'- ATCTTCATCCCAGGCGTCTG -3'

Sequencing Primer
(F):5'- TTCACAGAAGGAGGCACCCTG -3'
(R):5'- CTGTCCTCGGCTGTTGGAAC -3'
Posted On 2019-10-24