Incidental Mutation 'R0136:Snrnp27'
ID 21948
Institutional Source Beutler Lab
Gene Symbol Snrnp27
Ensembl Gene ENSMUSG00000001158
Gene Name small nuclear ribonucleoprotein 27 (U4/U6.U5)
Synonyms 2610209M04Rik
MMRRC Submission 038421-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0136 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 6
Chromosomal Location 86652151-86661473 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86653187 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 144 (S144G)
Ref Sequence ENSEMBL: ENSMUSP00000109313 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001186] [ENSMUST00000113683]
AlphaFold Q8K194
Predicted Effect probably benign
Transcript: ENSMUST00000001186
SMART Domains Protein: ENSMUSP00000001186
Gene: ENSMUSG00000001158

DomainStartEndE-ValueType
Pfam:DUF1777 1 151 1.8e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113683
AA Change: S144G

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000109313
Gene: ENSMUSG00000001158
AA Change: S144G

DomainStartEndE-ValueType
Pfam:DUF1777 1 139 1.9e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131674
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.3%
Validation Efficiency 89% (56/63)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serine/arginine-rich (SR) protein. SR proteins play important roles in pre-mRNA splicing by facilitating the recognition and selection of splice sites. The encoded protein associates with the 25S U4/U6.U5 tri-snRNP, a major component of the U2-type spiceosome. The expression of this gene may be altered in cells infected with the human T-cell lymphotropic virus type 1 (HTLV-1) retrovirus. A pseudogene of this gene is located on the long arm of chromosome 5. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap4b1 T C 3: 103,717,262 (GRCm39) M1T probably null Het
Arg2 T C 12: 79,196,780 (GRCm39) L167P probably damaging Het
Atxn1 A G 13: 45,720,645 (GRCm39) S417P probably damaging Het
Baz2b A G 2: 59,732,298 (GRCm39) V1949A probably benign Het
Bcl3 A G 7: 19,543,494 (GRCm39) V324A probably damaging Het
Btbd10 A T 7: 112,929,085 (GRCm39) S230T possibly damaging Het
Camta1 A G 4: 151,163,426 (GRCm39) S1479P probably damaging Het
Cd69 C T 6: 129,247,025 (GRCm39) S64N probably benign Het
Col5a1 T C 2: 27,914,843 (GRCm39) L153P probably damaging Het
Crat C A 2: 30,297,042 (GRCm39) V304L probably benign Het
Csmd3 T C 15: 47,710,527 (GRCm39) T1687A probably benign Het
Dnah1 C T 14: 30,998,115 (GRCm39) G2574D probably damaging Het
Fau T C 19: 6,109,210 (GRCm39) V86A possibly damaging Het
Garem1 T G 18: 21,263,048 (GRCm39) S589R probably damaging Het
Gbp3 T G 3: 142,269,862 (GRCm39) probably null Het
Gin1 T A 1: 97,710,741 (GRCm39) S141R possibly damaging Het
Gtf2h1 A T 7: 46,464,840 (GRCm39) Q419L possibly damaging Het
Hipk3 A G 2: 104,269,638 (GRCm39) I517T probably benign Het
Hivep2 T C 10: 14,007,622 (GRCm39) S1407P probably benign Het
Hnrnpk G T 13: 58,542,991 (GRCm39) D211E probably benign Het
Hnrnpul2 T C 19: 8,804,165 (GRCm39) L588P probably damaging Het
Il18rap A T 1: 40,564,218 (GRCm39) H112L probably benign Het
Itgb1 T G 8: 129,449,335 (GRCm39) Y585D possibly damaging Het
Kmt2d C T 15: 98,752,159 (GRCm39) probably benign Het
Map7d1 A T 4: 126,130,424 (GRCm39) probably null Het
Me2 A G 18: 73,903,744 (GRCm39) S575P probably benign Het
Med13l A G 5: 118,862,115 (GRCm39) T353A probably benign Het
Mgat4b T C 11: 50,121,908 (GRCm39) V143A possibly damaging Het
Mlxip T A 5: 123,580,369 (GRCm39) W211R probably damaging Het
Morc2a T G 11: 3,635,907 (GRCm39) probably null Het
Muc4 A T 16: 32,569,013 (GRCm39) probably benign Het
Ndufa10 A T 1: 92,390,850 (GRCm39) Y233* probably null Het
Nek8 C T 11: 78,062,033 (GRCm39) S237N probably benign Het
Neto1 G A 18: 86,479,445 (GRCm39) R211Q probably benign Het
Nfatc2ip A G 7: 125,990,507 (GRCm39) S165P probably benign Het
Nsd2 A G 5: 34,012,880 (GRCm39) K404E possibly damaging Het
Nsd3 G T 8: 26,149,870 (GRCm39) E352* probably null Het
Nudt9 A G 5: 104,194,972 (GRCm39) T23A probably benign Het
Or1e34 T C 11: 73,778,611 (GRCm39) M196V probably benign Het
Or1e34 C T 11: 73,778,656 (GRCm39) V181I probably benign Het
Or8b57 A G 9: 40,003,315 (GRCm39) *312Q probably null Het
Patj C A 4: 98,555,885 (GRCm39) Q297K probably damaging Het
Pelo A T 13: 115,225,439 (GRCm39) C40* probably null Het
Pnpla3 G A 15: 84,058,679 (GRCm39) probably null Het
Pramel1 C A 4: 143,124,016 (GRCm39) N230K probably damaging Het
Psg20 A C 7: 18,416,432 (GRCm39) L228R probably damaging Het
Rsph10b T C 5: 143,896,639 (GRCm39) F44L probably benign Het
Septin2 G A 1: 93,434,772 (GRCm39) G358R possibly damaging Het
Slamf7 G A 1: 171,476,499 (GRCm39) probably benign Het
Slc12a8 A G 16: 33,428,583 (GRCm39) D297G probably damaging Het
Slc17a5 G A 9: 78,485,956 (GRCm39) A43V probably damaging Het
Slc22a1 A T 17: 12,881,483 (GRCm39) F335L probably benign Het
Slc26a5 T C 5: 22,039,345 (GRCm39) N216S probably damaging Het
Spata20 T A 11: 94,371,435 (GRCm39) D643V probably damaging Het
Spata24 T C 18: 35,793,515 (GRCm39) K99R probably damaging Het
Taar5 A G 10: 23,847,607 (GRCm39) Y335C probably damaging Het
Tpr A G 1: 150,306,346 (GRCm39) H1540R probably benign Het
Vmn1r27 A G 6: 58,192,704 (GRCm39) F100S possibly damaging Het
Vmn2r37 A T 7: 9,220,782 (GRCm39) Y360* probably null Het
Ybx1 C A 4: 119,139,551 (GRCm39) R36L possibly damaging Het
Zfp369 A G 13: 65,445,016 (GRCm39) K720E probably benign Het
Zfp599 A G 9: 22,161,038 (GRCm39) S376P probably benign Het
Zic2 A G 14: 122,713,953 (GRCm39) E289G probably damaging Het
Zzef1 T C 11: 72,712,677 (GRCm39) V199A probably benign Het
Other mutations in Snrnp27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02028:Snrnp27 APN 6 86,659,955 (GRCm39) missense unknown
IGL03198:Snrnp27 APN 6 86,659,968 (GRCm39) splice site probably null
PIT4131001:Snrnp27 UTSW 6 86,659,893 (GRCm39) missense unknown
R0242:Snrnp27 UTSW 6 86,652,575 (GRCm39) unclassified probably benign
R0375:Snrnp27 UTSW 6 86,657,935 (GRCm39) missense possibly damaging 0.83
R2164:Snrnp27 UTSW 6 86,653,196 (GRCm39) missense probably benign 0.03
R5245:Snrnp27 UTSW 6 86,659,941 (GRCm39) missense unknown
R6042:Snrnp27 UTSW 6 86,659,902 (GRCm39) missense unknown
R7667:Snrnp27 UTSW 6 86,657,935 (GRCm39) missense possibly damaging 0.83
R8812:Snrnp27 UTSW 6 86,653,196 (GRCm39) missense probably benign 0.03
R8946:Snrnp27 UTSW 6 86,653,226 (GRCm39) missense probably damaging 1.00
R9330:Snrnp27 UTSW 6 86,653,184 (GRCm39) missense probably benign 0.03
R9413:Snrnp27 UTSW 6 86,653,255 (GRCm39) missense possibly damaging 0.89
Predicted Primers PCR Primer
(F):5'- CCTCAATGCAATAACGGGCAGAGC -3'
(R):5'- GTGCCATGCACATCACATGCAAG -3'

Sequencing Primer
(F):5'- GTTGTTACCATGTAAATTGGAAGGAC -3'
(R):5'- agatggcacagcggttaag -3'
Posted On 2013-04-12