Incidental Mutation 'R5732:Snrpd2'
ID 451488
Institutional Source Beutler Lab
Gene Symbol Snrpd2
Ensembl Gene ENSMUSG00000040824
Gene Name small nuclear ribonucleoprotein D2
Synonyms SMD2, 1810009A06Rik
MMRRC Submission 043347-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R5732 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 18883370-18886659 bp(+) (GRCm39)
Type of Mutation splice site (3448 bp from exon)
DNA Base Change (assembly) T to C at 18886538 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000092384 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032566] [ENSMUST00000049294] [ENSMUST00000094790]
AlphaFold P62317
Predicted Effect probably benign
Transcript: ENSMUST00000032566
SMART Domains Protein: ENSMUSP00000032566
Gene: ENSMUSG00000030407

DomainStartEndE-ValueType
low complexity region 27 48 N/A INTRINSIC
Pfam:Peptidase_M28 151 377 2.3e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000049294
AA Change: I107T

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000037597
Gene: ENSMUSG00000040824
AA Change: I107T

DomainStartEndE-ValueType
Sm 32 111 3.94e-19 SMART
Predicted Effect probably null
Transcript: ENSMUST00000094790
SMART Domains Protein: ENSMUSP00000092384
Gene: ENSMUSG00000030406

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
HormR 53 123 6.14e-23 SMART
Pfam:7tm_2 130 384 1.3e-81 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206766
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206857
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.3%
  • 10x: 96.8%
  • 20x: 94.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the small nuclear ribonucleoprotein core protein family. It is required for pre-mRNA splicing and small nuclear ribonucleoprotein biogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaa1b T A 9: 118,977,462 (GRCm39) M407L possibly damaging Het
Acsf2 T C 11: 94,460,768 (GRCm39) probably benign Het
Apob A G 12: 8,060,353 (GRCm39) D2945G probably benign Het
Atg2a T C 19: 6,307,490 (GRCm39) Y1475H probably damaging Het
Capn5 A G 7: 97,778,593 (GRCm39) L342P possibly damaging Het
Ccdc152 A G 15: 3,321,860 (GRCm39) probably null Het
Ccdc7b A G 8: 129,799,195 (GRCm39) M91V possibly damaging Het
Cd3g T C 9: 44,884,929 (GRCm39) E105G possibly damaging Het
Cdadc1 A G 14: 59,834,360 (GRCm39) L44P probably damaging Het
Cdh23 A G 10: 60,167,096 (GRCm39) V1852A possibly damaging Het
Cdx2 T C 5: 147,238,833 (GRCm39) Q252R possibly damaging Het
Cps1 A T 1: 67,196,923 (GRCm39) I325F probably benign Het
Dctn1 G A 6: 83,174,931 (GRCm39) probably null Het
Dcun1d3 T C 7: 119,457,256 (GRCm39) K152R probably benign Het
Dhx35 G A 2: 158,673,705 (GRCm39) V379M probably damaging Het
Fam171a2 T C 11: 102,330,807 (GRCm39) E224G possibly damaging Het
Flt1 G T 5: 147,571,293 (GRCm39) Y671* probably null Het
Fndc3b T C 3: 27,515,922 (GRCm39) Y628C probably damaging Het
Foxj3 A T 4: 119,443,008 (GRCm39) D144V probably damaging Het
Gp2 A G 7: 119,048,331 (GRCm39) V429A probably damaging Het
Hydin T A 8: 111,178,690 (GRCm39) I1095N probably benign Het
Kat2a A G 11: 100,599,066 (GRCm39) F571S probably damaging Het
Kcnq1 C A 7: 142,702,493 (GRCm39) probably benign Het
Letm2 A C 8: 26,077,341 (GRCm39) S250A possibly damaging Het
Llgl1 T C 11: 60,600,286 (GRCm39) V545A probably benign Het
Lrfn3 T C 7: 30,059,031 (GRCm39) D398G probably benign Het
Lrig1 G T 6: 94,676,520 (GRCm39) C49* probably null Het
Mug1 A G 6: 121,855,452 (GRCm39) I929V probably benign Het
Naaa G A 5: 92,411,314 (GRCm39) T291I probably damaging Het
Ndufaf1 G A 2: 119,490,521 (GRCm39) Q180* probably null Het
Nr3c1 A T 18: 39,548,752 (GRCm39) H741Q probably damaging Het
Nsun5 T C 5: 135,400,204 (GRCm39) L109P probably damaging Het
Pacsin3 A G 2: 91,090,605 (GRCm39) E18G probably damaging Het
Rpgr G A X: 10,032,511 (GRCm39) P857L probably benign Het
Siglec1 G A 2: 130,916,188 (GRCm39) T1254M probably benign Het
Slc35a4 A T 18: 36,815,394 (GRCm39) T75S probably benign Het
Slc52a2 T C 15: 76,425,274 (GRCm39) I434T probably benign Het
Slco2a1 C T 9: 102,927,455 (GRCm39) T116I probably damaging Het
Tbc1d32 T A 10: 55,964,489 (GRCm39) L903F probably damaging Het
Tex10 G T 4: 48,460,046 (GRCm39) T435K probably damaging Het
Tmem266 T C 9: 55,288,120 (GRCm39) S66P probably damaging Het
Top2b A T 14: 16,400,106 (GRCm38) E581D possibly damaging Het
Uggt1 A T 1: 36,200,852 (GRCm39) probably null Het
Wdr47 T A 3: 108,540,472 (GRCm39) Y622* probably null Het
Zfp644 A T 5: 106,784,989 (GRCm39) H519Q probably damaging Het
Zfp687 T C 3: 94,918,528 (GRCm39) M415V possibly damaging Het
Other mutations in Snrpd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4049:Snrpd2 UTSW 7 18,885,232 (GRCm39) missense probably damaging 0.96
R5502:Snrpd2 UTSW 7 18,885,247 (GRCm39) missense probably benign 0.06
R5810:Snrpd2 UTSW 7 18,886,447 (GRCm39) missense probably benign 0.03
R8823:Snrpd2 UTSW 7 18,886,535 (GRCm39) missense probably benign 0.16
R9187:Snrpd2 UTSW 7 18,886,505 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCACACAGTGCCAGGCAAAG -3'
(R):5'- GGCTGTTATATACCGCAGCAC -3'

Sequencing Primer
(F):5'- CAGGCAAAGGTGGGCACTC -3'
(R):5'- GTCCTAGTGCTCAGCCCAAC -3'
Posted On 2017-01-03