Incidental Mutation 'IGL02081:Snrpn'
ID 192577
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Snrpn
Ensembl Gene ENSMUSG00000102252
Gene Name small nuclear ribonucleoprotein N
Synonyms 2410045I01Rik, Pwcr1, Peg4
Accession Numbers
Essential gene? Probably non essential (E-score: 0.166) question?
Stock # IGL02081
Quality Score
Status
Chromosome 7
Chromosomal Location 59632243-59789967 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 59637194 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 41 (I41V)
Ref Sequence ENSEMBL: ENSMUSP00000096003 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059305] [ENSMUST00000098402] [ENSMUST00000179360] [ENSMUST00000189432]
AlphaFold P63163
Predicted Effect possibly damaging
Transcript: ENSMUST00000059305
AA Change: I41V

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000055941
Gene: ENSMUSG00000102252
AA Change: I41V

DomainStartEndE-ValueType
Sm 7 82 9.25e-25 SMART
low complexity region 93 119 N/A INTRINSIC
low complexity region 148 164 N/A INTRINSIC
low complexity region 169 209 N/A INTRINSIC
low complexity region 212 240 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000098402
AA Change: I41V

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000096003
Gene: ENSMUSG00000102252
AA Change: I41V

DomainStartEndE-ValueType
Sm 7 82 9.25e-25 SMART
low complexity region 93 119 N/A INTRINSIC
low complexity region 148 164 N/A INTRINSIC
low complexity region 169 209 N/A INTRINSIC
low complexity region 212 240 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000179360
SMART Domains Protein: ENSMUSP00000136053
Gene: ENSMUSG00000000948

DomainStartEndE-ValueType
Pfam:SNURF 1 70 4.4e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000189432
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is one polypeptide of a small nuclear ribonucleoprotein complex, and it plays a role in pre-mRNA processing. Although individual snRNPs are believed to recognize specific nucleic acid sequences through RNA-RNA base pairing, the specific role of this family member is unknown. This protein arises from a bicistronic transcript that also encodes a protein identified as the Snrpn upstream reading frame (Snurf). Multiple transcription initiation sites have been identified and extensive alternative splicing occurs in the 5' untranslated region. Additional splice variants have been described but sequences for the complete transcripts have not been determined. The 5' UTR of this gene has been identified as an imprinting center. Alternative splicing or deletion caused by a translocation event in this paternally-expressed region in human and mouse is responsible for Angelman syndrome or Prader-Willi syndrome due to parental imprint switch failure. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted intragenic deletions are phenotypically normal. Deletions that also encompass neighboring genes on the paternal chromosome exhibit growth retardation, hypotonia, and high mortality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a G T 8: 44,023,233 (GRCm39) L86I probably damaging Het
Adamts17 C T 7: 66,711,858 (GRCm39) R726C probably damaging Het
Aff1 A G 5: 103,982,171 (GRCm39) K778R probably damaging Het
Agr2 G A 12: 36,045,655 (GRCm39) probably null Het
Alms1 T A 6: 85,597,285 (GRCm39) C1173S possibly damaging Het
Apol7b A G 15: 77,307,736 (GRCm39) L253P possibly damaging Het
Atp10a A T 7: 58,477,604 (GRCm39) T1268S possibly damaging Het
Atr A T 9: 95,765,258 (GRCm39) K1149N probably damaging Het
Bri3bp G A 5: 125,518,961 (GRCm39) probably null Het
Ccser1 T A 6: 61,288,152 (GRCm39) L105* probably null Het
Cyp4a10 G A 4: 115,378,369 (GRCm39) A152T possibly damaging Het
Dock2 C T 11: 34,204,355 (GRCm39) D1396N probably benign Het
Ext1 A T 15: 52,936,842 (GRCm39) Y634* probably null Het
Fbh1 T C 2: 11,768,938 (GRCm39) D285G probably benign Het
Gcn1 A G 5: 115,723,930 (GRCm39) K529E probably damaging Het
H2-Q2 A G 17: 35,561,684 (GRCm39) D58G probably damaging Het
Hid1 T C 11: 115,239,332 (GRCm39) D776G possibly damaging Het
Il18r1 A T 1: 40,537,665 (GRCm39) S477C probably damaging Het
Irag1 T C 7: 110,523,281 (GRCm39) probably null Het
Jmjd1c T G 10: 67,055,305 (GRCm39) F242V probably benign Het
Krtap4-1 G A 11: 99,519,010 (GRCm39) probably benign Het
Mms19 A G 19: 41,938,418 (GRCm39) probably null Het
Mpdz T C 4: 81,254,106 (GRCm39) T1009A probably damaging Het
Mrpl22 T C 11: 58,062,647 (GRCm39) I19T probably benign Het
Nup88 A G 11: 70,845,480 (GRCm39) probably benign Het
Or5b94 A T 19: 12,652,180 (GRCm39) I204F probably benign Het
Pnpo T C 11: 96,830,150 (GRCm39) Y183C probably damaging Het
Poln C T 5: 34,286,483 (GRCm39) M228I probably benign Het
Scara5 T C 14: 65,968,104 (GRCm39) W126R possibly damaging Het
Scmh1 T G 4: 120,372,275 (GRCm39) C359W probably damaging Het
St8sia1 T C 6: 142,774,953 (GRCm39) M209V probably benign Het
Stard9 T A 2: 120,495,391 (GRCm39) S89T probably damaging Het
Tet1 T C 10: 62,649,597 (GRCm39) T1667A probably damaging Het
Tmem217 C T 17: 29,745,347 (GRCm39) G128S probably damaging Het
Ttpal A G 2: 163,457,308 (GRCm39) N260S probably benign Het
Vwa2 A G 19: 56,890,668 (GRCm39) D233G probably benign Het
Wdr83 A G 8: 85,802,472 (GRCm39) F258L probably benign Het
Zfp277 A T 12: 40,378,795 (GRCm39) L354* probably null Het
Zfp516 A G 18: 82,973,858 (GRCm39) R19G probably benign Het
Other mutations in Snrpn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03349:Snrpn APN 7 59,635,613 (GRCm39) missense probably damaging 0.99
R0032:Snrpn UTSW 7 59,634,830 (GRCm39) missense probably damaging 0.99
R1789:Snrpn UTSW 7 59,633,207 (GRCm39) utr 3 prime probably benign
R2057:Snrpn UTSW 7 59,637,204 (GRCm39) missense possibly damaging 0.95
R4621:Snrpn UTSW 7 59,637,274 (GRCm39) missense possibly damaging 0.84
R7600:Snrpn UTSW 7 59,638,351 (GRCm39) start codon destroyed probably null 0.61
R7664:Snrpn UTSW 7 59,637,239 (GRCm39) missense probably benign 0.15
R8183:Snrpn UTSW 7 59,634,830 (GRCm39) missense probably damaging 0.99
R8250:Snrpn UTSW 7 59,636,633 (GRCm39) critical splice acceptor site probably null
R9485:Snrpn UTSW 7 59,637,212 (GRCm39) missense probably damaging 1.00
R9656:Snrpn UTSW 7 59,635,715 (GRCm39) missense possibly damaging 0.67
Posted On 2014-05-14