Incidental Mutation 'R8250:Snrpn'
ID 640282
Institutional Source Beutler Lab
Gene Symbol Snrpn
Ensembl Gene ENSMUSG00000102252
Gene Name small nuclear ribonucleoprotein N
Synonyms 2410045I01Rik, Pwcr1, Peg4
MMRRC Submission 067676-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.154) question?
Stock # R8250 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 59632243-59789967 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to A at 59636633 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000055941 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059305] [ENSMUST00000098402] [ENSMUST00000179360] [ENSMUST00000189432]
AlphaFold P63163
Predicted Effect probably null
Transcript: ENSMUST00000059305
SMART Domains Protein: ENSMUSP00000055941
Gene: ENSMUSG00000102252

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: ENSMUST00000098402
SMART Domains Protein: ENSMUSP00000096003
Gene: ENSMUSG00000102252

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 A T 4: 86,260,846 (GRCm39) E1027V probably damaging Het
Agbl2 G A 2: 90,627,908 (GRCm39) G238R probably damaging Het
Bltp1 T C 3: 36,971,811 (GRCm39) S515P probably damaging Het
Ccdc27 A T 4: 154,126,245 (GRCm39) D81E unknown Het
Csrnp3 A G 2: 65,852,562 (GRCm39) E330G probably damaging Het
Dcp1a A G 14: 30,244,883 (GRCm39) T570A possibly damaging Het
Fat1 A G 8: 45,406,336 (GRCm39) N1029S probably damaging Het
Ftcd T G 10: 76,417,461 (GRCm39) I300R probably damaging Het
Fxr1 T A 3: 34,101,178 (GRCm39) Y161* probably null Het
Gabrg2 C T 11: 41,858,379 (GRCm39) V250I probably benign Het
Gmcl1 T C 6: 86,698,384 (GRCm39) D171G possibly damaging Het
Grk2 A G 19: 4,339,962 (GRCm39) F375S probably damaging Het
Kat2b T A 17: 53,970,564 (GRCm39) I650N probably damaging Het
Lhfpl6 T C 3: 52,950,759 (GRCm39) I11T probably benign Het
Mbtd1 A G 11: 93,801,176 (GRCm39) Y141C probably damaging Het
Mon1b A T 8: 114,366,351 (GRCm39) E449V probably damaging Het
Mrpl47 T C 3: 32,785,382 (GRCm39) N112S probably damaging Het
Myo9a T A 9: 59,767,392 (GRCm39) H865Q probably damaging Het
Notch3 T C 17: 32,351,310 (GRCm39) N1895S probably damaging Het
Nuggc A G 14: 65,879,318 (GRCm39) I693V probably benign Het
Oip5 A G 2: 119,446,110 (GRCm39) S133P probably benign Het
Opcml A G 9: 28,586,566 (GRCm39) I95V probably damaging Het
Or10v1 A T 19: 11,873,741 (GRCm39) M119L probably damaging Het
Or52l1 T C 7: 104,830,518 (GRCm39) M16V Het
Or8k20 T C 2: 86,106,498 (GRCm39) E111G probably damaging Het
P2rx3 A C 2: 84,852,735 (GRCm39) V221G probably damaging Het
Prr27 A G 5: 87,990,556 (GRCm39) N56S possibly damaging Het
Psmd11 T C 11: 80,336,752 (GRCm39) S135P possibly damaging Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Sall3 T C 18: 81,016,743 (GRCm39) D395G probably benign Het
Scube2 T C 7: 109,463,377 (GRCm39) N62S probably benign Het
Sema6a A T 18: 47,423,182 (GRCm39) S275T probably damaging Het
Sirpb1a A T 3: 15,444,104 (GRCm39) L382Q possibly damaging Het
Sox5 A T 6: 144,100,777 (GRCm39) S71T possibly damaging Het
Synpo2l G T 14: 20,712,344 (GRCm39) T321K probably benign Het
Tex15 G A 8: 34,055,233 (GRCm39) E285K probably null Het
Tmem126b G A 7: 90,118,317 (GRCm39) L188F probably damaging Het
Ttll2 T C 17: 7,618,767 (GRCm39) T387A probably benign Het
Ttn A G 2: 76,667,155 (GRCm39) Y11484H unknown Het
Vmn2r76 T A 7: 85,875,231 (GRCm39) Y582F possibly damaging Het
Zfp786 A T 6: 47,797,729 (GRCm39) L403Q possibly damaging Het
Other mutations in Snrpn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02081:Snrpn APN 7 59,637,194 (GRCm39) missense possibly damaging 0.80
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
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
Predicted Primers PCR Primer
(F):5'- CCAGTACATAGGTGCATAGGTG -3'
(R):5'- TATTGACGCATTCACAGGAAAC -3'

Sequencing Primer
(F):5'- CTTAATTCCTAAGGCTACAGATGTAC -3'
(R):5'- CGCATTCACAGGAAACTAATTTTAC -3'
Posted On 2020-07-28