Incidental Mutation 'R6379:Srp68'
ID515216
Institutional Source Beutler Lab
Gene Symbol Srp68
Ensembl Gene ENSMUSG00000020780
Gene Namesignal recognition particle 68
Synonyms2610024I03Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.949) question?
Stock #R6379 (G1)
Quality Score225.009
Status Not validated
Chromosome11
Chromosomal Location116245166-116274217 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 116265401 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Arginine at position 172 (C172R)
Ref Sequence ENSEMBL: ENSMUSP00000021133 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021133] [ENSMUST00000106425]
Predicted Effect probably damaging
Transcript: ENSMUST00000021133
AA Change: C172R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021133
Gene: ENSMUSG00000020780
AA Change: C172R

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: C134R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102033
Gene: ENSMUSG00000020780
AA Change: C134R

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 96.7%
Validation Efficiency
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011H14Rik T A 14: 49,243,734 I99F probably benign Het
2010111I01Rik T A 13: 63,068,243 I443K probably damaging Het
6820408C15Rik A T 2: 152,427,992 R21S probably benign Het
9130011E15Rik A T 19: 45,921,697 V472D possibly damaging Het
9430007A20Rik G T 4: 144,522,342 R93L probably benign Het
9530053A07Rik A C 7: 28,157,592 T2122P probably damaging Het
Adcy5 A T 16: 35,293,999 T991S probably benign Het
Aldh18a1 A T 19: 40,577,770 probably null Het
Anxa1 T C 19: 20,373,715 *347W probably null Het
Arid1a G T 4: 133,680,927 L2090I unknown Het
Bambi T A 18: 3,512,198 L194Q probably damaging Het
Card9 A G 2: 26,356,777 V353A probably damaging Het
Ccdc60 C A 5: 116,131,023 probably null Het
Ccdc71 A G 9: 108,463,612 K208R possibly damaging Het
Cdh12 T C 15: 21,492,657 V254A probably benign Het
Cep295nl T A 11: 118,333,730 N96I probably benign Het
Ces1f C A 8: 93,279,651 C17F probably benign Het
Clic6 C A 16: 92,539,535 T577K probably damaging Het
Col28a1 T C 6: 8,012,996 M1019V probably benign Het
Ctnnd2 C A 15: 30,634,698 S73Y probably damaging Het
Daam1 C T 12: 71,951,938 L556F unknown Het
Dchs2 A C 3: 83,355,146 N2907T probably damaging Het
Dlgap3 A C 4: 127,234,974 E829A probably damaging Het
Dpysl5 A T 5: 30,777,973 probably null Het
Draxin C A 4: 148,107,943 C304F probably damaging Het
Eif3j1 A G 2: 122,047,524 D131G possibly damaging Het
Fads1 T C 19: 10,183,187 Y46H probably damaging Het
Figla T A 6: 86,018,580 I72K probably damaging Het
Fnbp4 T A 2: 90,751,124 S174T probably benign Het
Foxn3 C A 12: 99,196,278 A455S probably benign Het
Fyn C T 10: 39,455,074 probably benign Het
Gm17727 T A 9: 35,778,085 probably benign Het
Gtse1 G A 15: 85,864,224 G277S probably benign Het
Hist1h2bn T A 13: 21,754,418 V99E probably benign Het
Icam4 C A 9: 21,029,782 A110E probably damaging Het
Itih3 G A 14: 30,909,724 S802L probably damaging Het
Kcng4 T A 8: 119,633,620 R6* probably null Het
Kmt2c A T 5: 25,359,341 C977S probably damaging Het
Lrrc8d A T 5: 105,812,809 M362L probably benign Het
Mtus2 T C 5: 148,077,198 I267T probably benign Het
Nab1 A G 1: 52,480,997 V275A probably damaging Het
Nfasc G A 1: 132,570,542 Q1308* probably null Het
Nop9 T C 14: 55,745,792 S7P possibly damaging Het
Npbwr1 G T 1: 5,917,219 N25K probably benign Het
Nptx2 T C 5: 144,553,442 L227P probably damaging Het
Nrg1 T C 8: 32,883,721 probably benign Het
Nup160 T A 2: 90,702,409 C571* probably null Het
Nynrin T C 14: 55,870,391 L985P probably damaging Het
Obsl1 A C 1: 75,503,143 L341R probably damaging Het
Olfr398 T G 11: 73,984,273 S112R probably damaging Het
Phip G T 9: 82,913,857 N570K probably damaging Het
Pigx A T 16: 32,084,523 I240N probably damaging Het
Platr25 T C 13: 62,706,237 D37G probably damaging Het
Ppl A T 16: 5,097,691 M639K probably benign Het
Pqlc2 G A 4: 139,299,985 L349F probably benign Het
Scnn1b T G 7: 121,915,328 M441R probably benign Het
Sh3gl1 A T 17: 56,019,143 M121K probably damaging Het
Slc30a4 A T 2: 122,689,549 V132D probably damaging Het
Slc38a7 A G 8: 95,848,527 S42P probably benign Het
Suz12 A T 11: 80,015,188 D292V possibly damaging Het
Sv2b A T 7: 75,136,300 D457E possibly damaging Het
Tas2r120 T C 6: 132,657,810 V285A probably benign Het
Tdo2 T A 3: 81,958,795 probably benign Het
Them7 G T 2: 105,284,686 probably null Het
Tnip2 T C 5: 34,503,635 T158A probably damaging Het
Tonsl C T 15: 76,629,742 R1209H probably benign Het
Trpc2 T A 7: 102,096,091 L838* probably null Het
Trpm1 A G 7: 64,199,194 I63V probably benign Het
Vps13d A T 4: 145,088,258 N90K probably benign Het
Ylpm1 C T 12: 85,030,800 S1433F probably damaging Het
Zbtb18 A G 1: 177,447,575 D158G probably damaging Het
Zfhx2 T A 14: 55,074,338 T300S probably benign Het
Zscan2 T A 7: 80,863,337 D23E probably benign Het
Other mutations in Srp68
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01654:Srp68 APN 11 116247812 splice site probably benign
IGL02974:Srp68 APN 11 116246225 missense probably benign 0.31
tipsy UTSW 11 116245812 missense probably damaging 1.00
P0028:Srp68 UTSW 11 116260920 missense probably damaging 0.99
R0211:Srp68 UTSW 11 116265551 missense probably damaging 1.00
R0211:Srp68 UTSW 11 116265551 missense probably damaging 1.00
R0468:Srp68 UTSW 11 116248764 missense probably damaging 0.98
R0796:Srp68 UTSW 11 116246683 missense probably benign 0.12
R1291:Srp68 UTSW 11 116263281 missense probably damaging 1.00
R1906:Srp68 UTSW 11 116250761 missense probably damaging 1.00
R2149:Srp68 UTSW 11 116260867 missense possibly damaging 0.93
R3732:Srp68 UTSW 11 116273956 nonsense probably null
R4651:Srp68 UTSW 11 116274014 missense probably benign
R4652:Srp68 UTSW 11 116274014 missense probably benign
R4686:Srp68 UTSW 11 116265401 missense probably damaging 0.98
R4924:Srp68 UTSW 11 116260858 missense probably damaging 1.00
R5077:Srp68 UTSW 11 116245812 missense probably damaging 1.00
R5095:Srp68 UTSW 11 116248747 missense probably damaging 0.98
R5166:Srp68 UTSW 11 116265474 missense probably damaging 0.99
R5167:Srp68 UTSW 11 116265474 missense probably damaging 0.99
R5168:Srp68 UTSW 11 116265474 missense probably damaging 0.99
R5769:Srp68 UTSW 11 116246669 missense probably damaging 1.00
R6577:Srp68 UTSW 11 116265464 missense probably damaging 1.00
R6777:Srp68 UTSW 11 116262904 missense probably damaging 1.00
R7089:Srp68 UTSW 11 116271907 splice site probably null
R7561:Srp68 UTSW 11 116248767 missense probably damaging 0.99
R7823:Srp68 UTSW 11 116265439 missense probably damaging 1.00
R7854:Srp68 UTSW 11 116254083 splice site probably null
R8206:Srp68 UTSW 11 116273983 missense probably damaging 0.98
R8407:Srp68 UTSW 11 116252763 missense probably benign 0.00
Z1088:Srp68 UTSW 11 116274035 small insertion probably benign
Predicted Primers PCR Primer
(F):5'- GATACACTAACTTAGCCCTTCAAAG -3'
(R):5'- CACTGTACCTCAGAGTGCACTG -3'

Sequencing Primer
(F):5'- TTAGCCCTTCAAAGAAAAATCGG -3'
(R):5'- AGTGCACTGGGCCCTTGTTC -3'
Posted On2018-05-04