Incidental Mutation 'R9413:Snrnp27'
ID 711897
Institutional Source Beutler Lab
Gene Symbol Snrnp27
Ensembl Gene ENSMUSG00000001158
Gene Name small nuclear ribonucleoprotein 27 (U4/U6.U5)
Synonyms 2610209M04Rik
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9413 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 86652151-86661473 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86653255 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 121 (D121G)
Ref Sequence ENSEMBL: ENSMUSP00000109313 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001186] [ENSMUST00000113683]
AlphaFold Q8K194
Predicted Effect probably damaging
Transcript: ENSMUST00000001186
AA Change: D121G

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000001186
Gene: ENSMUSG00000001158
AA Change: D121G

DomainStartEndE-ValueType
Pfam:DUF1777 1 151 1.8e-39 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000113683
AA Change: D121G

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000109313
Gene: ENSMUSG00000001158
AA Change: D121G

DomainStartEndE-ValueType
Pfam:DUF1777 1 139 1.9e-24 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 97% (35/36)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A T 7: 120,126,422 (GRCm39) T1194S probably benign Het
Akr7a5 A T 4: 139,038,059 (GRCm39) probably benign Het
Ap3b2 G T 7: 81,127,757 (GRCm39) P140T possibly damaging Het
Ap3s1 T C 18: 46,887,531 (GRCm39) probably null Het
Arrdc2 C T 8: 71,288,892 (GRCm39) R381H probably damaging Het
Atg13 T C 2: 91,511,970 (GRCm39) D286G probably benign Het
C1qtnf4 T C 2: 90,720,648 (GRCm39) F307S probably damaging Het
Cdk5rap1 A T 2: 154,207,880 (GRCm39) probably null Het
Chsy3 C T 18: 59,309,170 (GRCm39) A141V possibly damaging Het
Creb3l1 C T 2: 91,822,231 (GRCm39) probably null Het
D5Ertd579e A G 5: 36,772,278 (GRCm39) S706P probably damaging Het
Ell2 A G 13: 75,917,705 (GRCm39) D545G Het
Ephb6 T C 6: 41,591,509 (GRCm39) L222P Het
Flnc G A 6: 29,441,484 (GRCm39) R422Q probably benign Het
Gm6619 A T 6: 131,468,370 (GRCm39) D167V unknown Het
Gucy2c T C 6: 136,700,771 (GRCm39) D581G possibly damaging Het
Hectd1 G A 12: 51,792,880 (GRCm39) R2471* probably null Het
Kif1a A T 1: 92,949,019 (GRCm39) M1501K probably benign Het
Mycbpap A G 11: 94,392,321 (GRCm39) V390A probably damaging Het
Or2n1d A T 17: 38,646,320 (GRCm39) T91S possibly damaging Het
Pex3 A G 10: 13,410,454 (GRCm39) Y236H probably damaging Het
Pglyrp3 G T 3: 91,930,106 (GRCm39) A91S probably damaging Het
Ppp1ca T C 19: 4,244,897 (GRCm39) S292P probably damaging Het
Prkci T C 3: 31,097,915 (GRCm39) V455A probably damaging Het
Prrx1 A G 1: 163,140,182 (GRCm39) V8A probably benign Het
Psd4 C T 2: 24,287,472 (GRCm39) T468I probably benign Het
Rnf213 A G 11: 119,357,059 (GRCm39) E4203G Het
Spag6 A T 2: 18,739,029 (GRCm39) M320L probably benign Het
Spata16 T A 3: 26,978,486 (GRCm39) M484K possibly damaging Het
Trim69 G A 2: 122,009,083 (GRCm39) W381* probably null Het
Tubgcp3 A C 8: 12,674,885 (GRCm39) I745S probably damaging Het
Ubxn2b A G 4: 6,204,607 (GRCm39) D156G probably damaging Het
Vmn2r103 A G 17: 20,032,158 (GRCm39) N644S possibly damaging 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
R0136:Snrnp27 UTSW 6 86,653,187 (GRCm39) missense probably benign 0.07
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
Predicted Primers PCR Primer
(F):5'- CGGGCAGAGCTAGTTGTTAC -3'
(R):5'- CCCCAAATGACTGCTTATTTGTAC -3'

Sequencing Primer
(F):5'- GTGGCAGATGCTTGTAATCCCAAC -3'
(R):5'- TGACTGCTTATTTGTACACTGTATTG -3'
Posted On 2022-05-16