Incidental Mutation 'IGL03349:Snrpn'
ID 419634
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: 0.154) question?
Stock # IGL03349
Quality Score
Status
Chromosome 7
Chromosomal Location 59632243-59789967 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 59635613 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 129 (G129D)
Ref Sequence ENSEMBL: ENSMUSP00000096003 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059305] [ENSMUST00000098402] [ENSMUST00000179360] [ENSMUST00000189432]
AlphaFold P63163
Predicted Effect probably damaging
Transcript: ENSMUST00000059305
AA Change: G129D

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000055941
Gene: ENSMUSG00000102252
AA Change: G129D

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 damaging
Transcript: ENSMUST00000098402
AA Change: G129D

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000096003
Gene: ENSMUSG00000102252
AA Change: G129D

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 noncoding transcript
Transcript: ENSMUST00000158750
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191491
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,629,455 (GRCm39) Y3648H probably benign Het
Akr1c20 T A 13: 4,558,249 (GRCm39) R172* probably null Het
Apba1 A T 19: 23,894,939 (GRCm39) E458D probably benign Het
Atg2a T A 19: 6,308,054 (GRCm39) V1590D possibly damaging Het
Atp13a4 A G 16: 29,275,489 (GRCm39) S332P probably benign Het
Atp8b2 A T 3: 89,865,124 (GRCm39) F163I probably damaging Het
Azin2 A T 4: 128,839,907 (GRCm39) Y228* probably null Het
Cd109 C T 9: 78,543,767 (GRCm39) H104Y probably benign Het
Ces2a G T 8: 105,460,712 (GRCm39) L3F probably damaging Het
Crebbp A G 16: 3,935,222 (GRCm39) V889A possibly damaging Het
Crim1 A T 17: 78,662,579 (GRCm39) K801* probably null Het
Cxcr1 T C 1: 74,231,687 (GRCm39) T112A possibly damaging Het
Cyp1a2 A G 9: 57,587,158 (GRCm39) S378P possibly damaging Het
Cyp2c67 T C 19: 39,632,128 (GRCm39) Y80C probably damaging Het
Dennd4a T C 9: 64,796,256 (GRCm39) W761R probably damaging Het
Dgki C T 6: 37,074,562 (GRCm39) probably null Het
Dnase1l3 T C 14: 7,984,146 (GRCm38) T89A probably benign Het
Dock4 C A 12: 40,783,309 (GRCm39) Q748K probably benign Het
Elmo3 A G 8: 106,033,020 (GRCm39) E68G possibly damaging Het
Fer1l4 C A 2: 155,886,654 (GRCm39) E692* probably null Het
Fkbp9 T A 6: 56,826,703 (GRCm39) M101K probably damaging Het
Grin1 C A 2: 25,200,448 (GRCm39) V225L probably benign Het
Gucy2d T C 7: 98,099,048 (GRCm39) V288A possibly damaging Het
Heatr5b C A 17: 79,062,749 (GRCm39) K1933N probably benign Het
Hsdl1 A T 8: 120,292,436 (GRCm39) S260T probably benign Het
Hspg2 T C 4: 137,287,833 (GRCm39) probably benign Het
Ift172 A T 5: 31,441,474 (GRCm39) V220E probably benign Het
Igkv12-47 C T 6: 69,727,850 (GRCm39) noncoding transcript Het
Ism1 C T 2: 139,573,895 (GRCm39) R82* probably null Het
Lrch3 A G 16: 32,775,694 (GRCm39) T187A probably damaging Het
Ltbr T A 6: 125,289,329 (GRCm39) D160V probably damaging Het
Lypd11 T A 7: 24,422,261 (GRCm39) S163C probably damaging Het
Mark3 A T 12: 111,594,684 (GRCm39) K353I probably benign Het
Mrm3 A T 11: 76,140,772 (GRCm39) H260L probably damaging Het
Nckap1 T C 2: 80,355,904 (GRCm39) Q627R probably benign Het
Neb T A 2: 52,168,964 (GRCm39) Y1857F possibly damaging Het
Ntsr1 A G 2: 180,142,295 (GRCm39) T29A probably benign Het
Ofcc1 C T 13: 40,226,228 (GRCm39) G768D probably benign Het
Or5k17 T C 16: 58,746,323 (GRCm39) M204V probably benign Het
Pde8b T C 13: 95,179,551 (GRCm39) probably benign Het
Pld4 A T 12: 112,734,313 (GRCm39) Q393L probably benign Het
Prss23 T C 7: 89,159,065 (GRCm39) I335V probably benign Het
Prune2 A G 19: 17,100,710 (GRCm39) I2071M probably damaging Het
Ptprz1 T A 6: 23,000,331 (GRCm39) V807E probably damaging Het
Rnf20 G A 4: 49,655,936 (GRCm39) A961T probably damaging Het
Slc25a24 A G 3: 109,056,865 (GRCm39) Q126R possibly damaging Het
Slc35e1 A T 8: 73,237,696 (GRCm39) Y382N probably damaging Het
Spag9 A T 11: 93,984,335 (GRCm39) N386I possibly damaging Het
Ssna1 T C 2: 25,161,542 (GRCm39) N102D possibly damaging Het
Tex21 A T 12: 76,268,365 (GRCm39) I139N probably benign Het
Trgc2 T A 13: 19,489,346 (GRCm39) T129S probably benign Het
Trim21 T C 7: 102,212,484 (GRCm39) T161A probably benign Het
Vmn2r82 T A 10: 79,213,703 (GRCm39) H96Q probably benign Het
Other mutations in Snrpn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02081:Snrpn APN 7 59,637,194 (GRCm39) missense possibly damaging 0.80
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 2016-08-02