Incidental Mutation 'R9656:Snrpn'
ID 727321
Institutional Source Beutler Lab
Gene Symbol Snrpn
Ensembl Gene ENSMUSG00000102252
Gene Name small nuclear ribonucleoprotein N
Synonyms 2410045I01Rik, Pwcr1, Peg4
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.154) question?
Stock # R9656 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 59632243-59789967 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 59635715 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 95 (V95E)
Ref Sequence ENSEMBL: ENSMUSP00000055941 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059305] [ENSMUST00000098402] [ENSMUST00000179360] [ENSMUST00000189432]
AlphaFold P63163
Predicted Effect possibly damaging
Transcript: ENSMUST00000059305
AA Change: V95E

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000055941
Gene: ENSMUSG00000102252
AA Change: V95E

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: V95E

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000096003
Gene: ENSMUSG00000102252
AA Change: V95E

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: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd13 G A 8: 10,037,991 (GRCm39) G196E possibly damaging Het
Atad5 G T 11: 79,980,542 (GRCm39) probably benign Het
Atxn2 C T 5: 121,922,061 (GRCm39) T635I possibly damaging Het
Bbs10 T A 10: 111,135,545 (GRCm39) N219K probably benign Het
Bsn T A 9: 107,994,407 (GRCm39) T623S probably benign Het
Btnl9 T C 11: 49,060,008 (GRCm39) D580G probably damaging Het
Cckar A G 5: 53,857,318 (GRCm39) L364P probably damaging Het
Ccn5 A G 2: 163,670,985 (GRCm39) D164G probably benign Het
Cfap46 A T 7: 139,235,816 (GRCm39) M631K Het
Col1a1 T A 11: 94,839,372 (GRCm39) S1006T unknown Het
Cpe T C 8: 65,047,980 (GRCm39) Y428C probably damaging Het
Cyp2d26 C A 15: 82,677,059 (GRCm39) V122L probably benign Het
Fam114a1 T C 5: 65,163,246 (GRCm39) I181T probably benign Het
Fam83b A G 9: 76,452,863 (GRCm39) V68A probably benign Het
Fanca A C 8: 124,031,482 (GRCm39) V403G probably benign Het
Grin2a T C 16: 9,397,471 (GRCm39) H872R possibly damaging Het
Grpel2 G T 18: 61,859,361 (GRCm39) R4S probably benign Het
Gstm1 T C 3: 107,925,072 (GRCm39) Y7C probably damaging Het
Hace1 A T 10: 45,547,545 (GRCm39) I497F probably benign Het
Hspg2 T C 4: 137,279,196 (GRCm39) V3093A probably benign Het
Ighv3-4 A T 12: 114,217,295 (GRCm39) F99I possibly damaging Het
Ints3 T C 3: 90,299,839 (GRCm39) M963V probably null Het
Krt12 T C 11: 99,309,471 (GRCm39) E263G Het
L1td1 T C 4: 98,622,223 (GRCm39) F262L probably benign Het
Lrp2bp A G 8: 46,466,158 (GRCm39) H110R probably benign Het
Mcm5 C T 8: 75,844,168 (GRCm39) S313F probably benign Het
Ncoa6 A G 2: 155,274,846 (GRCm39) I135T probably damaging Het
Nfatc3 G A 8: 106,830,766 (GRCm39) R695H probably damaging Het
Nkx1-2 T A 7: 132,201,228 (GRCm39) K10* probably null Het
Or2t44 G A 11: 58,677,635 (GRCm39) A192T possibly damaging Het
Or4f54 A T 2: 111,122,633 (GRCm39) T7S probably benign Het
Or5b110-ps1 T C 19: 13,260,035 (GRCm39) H129R possibly damaging Het
Or5b21 A G 19: 12,839,247 (GRCm39) Y36C probably damaging Het
Otog A G 7: 45,959,567 (GRCm39) T719A probably damaging Het
Prkdc T G 16: 15,617,818 (GRCm39) I3216M probably benign Het
Pygm A G 19: 6,438,187 (GRCm39) D252G probably benign Het
Rae1 T A 2: 172,854,590 (GRCm39) Y332* probably null Het
Rbm12 A T 2: 155,940,121 (GRCm39) D50E unknown Het
Rbm6 G A 9: 107,656,778 (GRCm39) R1000W probably damaging Het
Rd3l A T 12: 111,946,614 (GRCm39) V54E possibly damaging Het
Rft1 T C 14: 30,404,714 (GRCm39) V370A probably benign Het
Rfx8 T C 1: 39,709,679 (GRCm39) I449M probably benign Het
Satb1 A T 17: 52,112,264 (GRCm39) S117T possibly damaging Het
Slc24a2 T C 4: 86,968,144 (GRCm39) Y370C probably damaging Het
Slc5a4b C A 10: 75,944,391 (GRCm39) V85L probably damaging Het
Spata31e5 G T 1: 28,816,536 (GRCm39) H499N probably benign Het
Spata33 A T 8: 123,948,758 (GRCm39) N130I possibly damaging Het
Spmip2 T A 3: 79,313,183 (GRCm39) F86I probably benign Het
Tap1 A G 17: 34,412,525 (GRCm39) S521G probably damaging Het
Tbc1d13 C T 2: 30,032,429 (GRCm39) T180I possibly damaging Het
Tgm7 G A 2: 120,940,191 (GRCm39) probably benign Het
Tiam1 A G 16: 89,664,459 (GRCm39) M583T probably damaging Het
Ttn C T 2: 76,715,357 (GRCm39) E7912K unknown Het
Vmn1r43 A T 6: 89,847,440 (GRCm39) H15Q possibly damaging Het
Zfp329 A T 7: 12,544,417 (GRCm39) V369E probably damaging Het
Zfp467 T A 6: 48,419,603 (GRCm39) E35V 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
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
Predicted Primers PCR Primer
(F):5'- AGACACATCTTCATGCTTCCG -3'
(R):5'- GAGAAGAAGTTGTTCAGGGTTTACC -3'

Sequencing Primer
(F):5'- CGCATTTCATCATTCTCAGGC -3'
(R):5'- GTTTACCCTGTTTATGTTTATGCAAG -3'
Posted On 2022-10-06