Incidental Mutation 'R5769:Srp68'
ID 446453
Institutional Source Beutler Lab
Gene Symbol Srp68
Ensembl Gene ENSMUSG00000020780
Gene Name signal recognition particle 68
Synonyms 2610024I03Rik
MMRRC Submission 043369-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.958) question?
Stock # R5769 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 116135992-116165043 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 116137495 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 525 (S525P)
Ref Sequence ENSEMBL: ENSMUSP00000021133 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021133] [ENSMUST00000106425]
AlphaFold Q8BMA6
Predicted Effect probably damaging
Transcript: ENSMUST00000021133
AA Change: S525P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021133
Gene: ENSMUSG00000020780
AA Change: S525P

DomainStartEndE-ValueType
low complexity region 9 34 N/A INTRINSIC
Pfam:SRP68 74 596 5.5e-156 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106425
AA Change: S487P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000102033
Gene: ENSMUSG00000020780
AA Change: S487P

DomainStartEndE-ValueType
low complexity region 9 34 N/A INTRINSIC
PDB:4P3F|B 46 215 1e-112 PDB
Blast:TPR 149 182 5e-15 BLAST
Blast:TPR 424 457 1e-14 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127205
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128808
Meta Mutation Damage Score 0.3271 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 98% (65/66)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the signal recognition particle (SRP). The SRP is a ribonucleoprotein complex that transports secreted and membrane proteins to the endoplasmic reticulum for processing. The complex includes a 7S RNA and six protein subunits. The encoded protein is the 68kDa component of the SRP, and forms a heterodimer with the 72kDa subunit that is required for SRP function. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and three pseudogenes of this gene are located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, May 2012]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik T A 5: 138,644,595 (GRCm39) V160E possibly damaging Het
Abcb1a A C 5: 8,733,426 (GRCm39) E106A probably benign Het
Acap3 A T 4: 155,986,857 (GRCm39) D371V probably damaging Het
Ahi1 T C 10: 20,835,981 (GRCm39) probably null Het
Coq8a A G 1: 180,006,681 (GRCm39) Y69H probably damaging Het
Defb33 T A 8: 21,387,543 (GRCm39) F27I possibly damaging Het
Dhx29 T A 13: 113,090,251 (GRCm39) L776Q probably damaging Het
Dnah3 G A 7: 119,689,175 (GRCm39) R80* probably null Het
Dtna A T 18: 23,784,611 (GRCm39) D646V probably benign Het
Eml5 T A 12: 98,756,878 (GRCm39) D1964V probably damaging Het
Fbn2 A T 18: 58,238,271 (GRCm39) N575K probably damaging Het
Fbxo38 G A 18: 62,648,036 (GRCm39) P834L probably benign Het
Fyb2 G T 4: 104,870,518 (GRCm39) K706N probably damaging Het
Fyb2 T A 4: 104,872,841 (GRCm39) V738E probably damaging Het
Gcm1 A G 9: 77,972,249 (GRCm39) T397A probably benign Het
Gins1 A T 2: 150,767,918 (GRCm39) E149D probably damaging Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Grin2a C T 16: 9,579,390 (GRCm39) R291K possibly damaging Het
Hdac10 T C 15: 89,007,819 (GRCm39) M646V probably benign Het
Hes6 G T 1: 91,340,671 (GRCm39) R38S probably damaging Het
Hipk3 G A 2: 104,265,298 (GRCm39) P667S possibly damaging Het
Jrk T C 15: 74,577,917 (GRCm39) Q456R probably benign Het
Klf18 A C 4: 117,586,162 (GRCm39) probably benign Het
Loxl3 A G 6: 83,027,581 (GRCm39) T708A probably damaging Het
Lyg1 T C 1: 37,989,831 (GRCm39) S19G unknown Het
Magel2 T A 7: 62,027,861 (GRCm39) M255K probably benign Het
Mctp1 A G 13: 76,907,927 (GRCm39) D242G probably damaging Het
Med13 A T 11: 86,236,829 (GRCm39) N109K probably benign Het
Mms19 A G 19: 41,952,825 (GRCm39) F95L probably damaging Het
Nav1 A G 1: 135,379,995 (GRCm39) L1569P probably damaging Het
Nup188 A G 2: 30,220,747 (GRCm39) E940G probably benign Het
Oas1d T C 5: 121,054,917 (GRCm39) F163S probably benign Het
Odf2l A G 3: 144,841,492 (GRCm39) K304R possibly damaging Het
Otud3 T A 4: 138,625,421 (GRCm39) N211I possibly damaging Het
Pabpc6 A T 17: 9,886,772 (GRCm39) L593* probably null Het
Pdcd11 T A 19: 47,091,076 (GRCm39) L350Q possibly damaging Het
Pdia4 A G 6: 47,792,446 (GRCm39) probably benign Het
Pik3cb G A 9: 98,975,212 (GRCm39) Q223* probably null Het
Plb1 G A 5: 32,474,866 (GRCm39) V696M probably benign Het
Ppp2r5a T C 1: 191,104,863 (GRCm39) D61G probably benign Het
Preb G T 5: 31,115,635 (GRCm39) Y87* probably null Het
Rdh16f2 A T 10: 127,712,758 (GRCm39) N252I probably benign Het
Rida T C 15: 34,484,704 (GRCm39) probably benign Het
Rxrb T C 17: 34,251,821 (GRCm39) probably benign Het
Sis T A 3: 72,835,568 (GRCm39) K931N probably damaging Het
Srcap T A 7: 127,158,994 (GRCm39) probably benign Het
Susd2 C T 10: 75,473,853 (GRCm39) A581T probably damaging Het
Synj1 A G 16: 90,735,141 (GRCm39) probably benign Het
Syt12 T C 19: 4,501,072 (GRCm39) Y326C probably damaging Het
Tesk2 A G 4: 116,659,512 (GRCm39) probably null Het
Tmem41b G A 7: 109,577,945 (GRCm39) T113I possibly damaging Het
Tmtc2 T C 10: 105,205,907 (GRCm39) I463V probably benign Het
Trak1 A T 9: 121,277,904 (GRCm39) D320V probably damaging Het
Ushbp1 A T 8: 71,838,863 (GRCm39) N570K probably benign Het
Vmn1r33 T A 6: 66,588,817 (GRCm39) I246F possibly damaging Het
Vmn2r54 A C 7: 12,349,209 (GRCm39) L791R possibly damaging Het
Washc1 A T 17: 66,425,111 (GRCm39) T372S probably benign Het
Zfp1005 A G 2: 150,110,198 (GRCm39) E296G possibly damaging Het
Other mutations in Srp68
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01654:Srp68 APN 11 116,138,638 (GRCm39) splice site probably benign
IGL02974:Srp68 APN 11 116,137,051 (GRCm39) missense probably benign 0.31
tipsy UTSW 11 116,136,638 (GRCm39) missense probably damaging 1.00
P0028:Srp68 UTSW 11 116,151,746 (GRCm39) missense probably damaging 0.99
R0211:Srp68 UTSW 11 116,156,377 (GRCm39) missense probably damaging 1.00
R0211:Srp68 UTSW 11 116,156,377 (GRCm39) missense probably damaging 1.00
R0468:Srp68 UTSW 11 116,139,590 (GRCm39) missense probably damaging 0.98
R0796:Srp68 UTSW 11 116,137,509 (GRCm39) missense probably benign 0.12
R1291:Srp68 UTSW 11 116,154,107 (GRCm39) missense probably damaging 1.00
R1906:Srp68 UTSW 11 116,141,587 (GRCm39) missense probably damaging 1.00
R2149:Srp68 UTSW 11 116,151,693 (GRCm39) missense possibly damaging 0.93
R3732:Srp68 UTSW 11 116,164,782 (GRCm39) nonsense probably null
R4651:Srp68 UTSW 11 116,164,840 (GRCm39) missense probably benign
R4652:Srp68 UTSW 11 116,164,840 (GRCm39) missense probably benign
R4686:Srp68 UTSW 11 116,156,227 (GRCm39) missense probably damaging 0.98
R4924:Srp68 UTSW 11 116,151,684 (GRCm39) missense probably damaging 1.00
R5077:Srp68 UTSW 11 116,136,638 (GRCm39) missense probably damaging 1.00
R5095:Srp68 UTSW 11 116,139,573 (GRCm39) missense probably damaging 0.98
R5166:Srp68 UTSW 11 116,156,300 (GRCm39) missense probably damaging 0.99
R5167:Srp68 UTSW 11 116,156,300 (GRCm39) missense probably damaging 0.99
R5168:Srp68 UTSW 11 116,156,300 (GRCm39) missense probably damaging 0.99
R6379:Srp68 UTSW 11 116,156,227 (GRCm39) missense probably damaging 1.00
R6577:Srp68 UTSW 11 116,156,290 (GRCm39) missense probably damaging 1.00
R6777:Srp68 UTSW 11 116,153,730 (GRCm39) missense probably damaging 1.00
R7089:Srp68 UTSW 11 116,162,733 (GRCm39) splice site probably null
R7561:Srp68 UTSW 11 116,139,593 (GRCm39) missense probably damaging 0.99
R7823:Srp68 UTSW 11 116,156,265 (GRCm39) missense probably damaging 1.00
R7854:Srp68 UTSW 11 116,144,909 (GRCm39) splice site probably null
R8206:Srp68 UTSW 11 116,164,809 (GRCm39) missense probably damaging 0.98
R8407:Srp68 UTSW 11 116,143,589 (GRCm39) missense probably benign 0.00
Z1088:Srp68 UTSW 11 116,164,861 (GRCm39) small insertion probably benign
Predicted Primers PCR Primer
(F):5'- TGCCTAGTTTAACAGGCAATAAGG -3'
(R):5'- ACAGGGCAGTGCTGGTATTG -3'

Sequencing Primer
(F):5'- AAAGGTGGCATTGAGTGTG -3'
(R):5'- CAAACTCAACTGTGTGGCTG -3'
Posted On 2016-11-21