Incidental Mutation 'R5624:Srprb'
ID 441743
Institutional Source Beutler Lab
Gene Symbol Srprb
Ensembl Gene ENSMUSG00000032553
Gene Name signal recognition particle receptor, B subunit
Synonyms
MMRRC Submission 043163-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5624 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 103065232-103079264 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103074800 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 114 (I114T)
Ref Sequence ENSEMBL: ENSMUSP00000035157 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035157] [ENSMUST00000166836]
AlphaFold P47758
PDB Structure The Structure of the Mammalian SRP Receptor [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000035157
AA Change: I114T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000035157
Gene: ENSMUSG00000032553
AA Change: I114T

DomainStartEndE-ValueType
Pfam:Arf 49 221 1.1e-17 PFAM
Pfam:SRPRB 60 239 1.2e-75 PFAM
Pfam:FeoB_N 63 214 7e-7 PFAM
Pfam:MMR_HSR1 64 179 3.8e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163567
Predicted Effect probably damaging
Transcript: ENSMUST00000166836
AA Change: I823T

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000127808
Gene: ENSMUSG00000090639
AA Change: I823T

DomainStartEndE-ValueType
low complexity region 6 19 N/A INTRINSIC
TR_FER 25 338 4.98e-175 SMART
TR_FER 346 672 8.64e-193 SMART
Pfam:Arf 758 928 1.5e-15 PFAM
Pfam:SRPRB 769 948 1.4e-73 PFAM
Pfam:MMR_HSR1 773 888 7.8e-8 PFAM
Meta Mutation Damage Score 0.2781 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 98% (47/48)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has similarity to mouse protein which is a subunit of the signal recognition particle receptor (SR). This subunit is a transmembrane GTPase belonging to the GTPase superfamily. It anchors alpha subunit, a peripheral membrane GTPase, to the ER membrane. SR is required for the cotranslational targeting of both secretory and membrane proteins to the ER membrane. [provided by RefSeq, Jul 2008]
Allele List at MGI

All alleles(6) : Gene trapped(6)
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adad2 T A 8: 120,341,844 (GRCm39) probably null Het
Aoah A T 13: 21,179,649 (GRCm39) N372I probably damaging Het
Ash1l T A 3: 88,892,916 (GRCm39) D1598E probably damaging Het
Bcas2 T C 3: 103,080,577 (GRCm39) C72R probably benign Het
Car9 T A 4: 43,509,146 (GRCm39) F238Y probably benign Het
Ccnd1 T C 7: 144,491,749 (GRCm39) S97G probably benign Het
Cfap52 C G 11: 67,818,184 (GRCm39) C509S possibly damaging Het
Clcn4 C A 7: 7,291,943 (GRCm39) V623L probably benign Het
Dnajc11 T C 4: 152,063,967 (GRCm39) V483A probably benign Het
E2f8 G T 7: 48,527,709 (GRCm39) D144E probably damaging Het
Epb41l1 G A 2: 156,375,691 (GRCm39) probably benign Het
Fam186a A C 15: 99,839,628 (GRCm39) H2205Q possibly damaging Het
Fhit A G 14: 10,421,534 (GRCm38) S85P probably damaging Het
Fzd8 G A 18: 9,213,268 (GRCm39) G117S unknown Het
Gsdmc4 A G 15: 63,764,503 (GRCm39) M379T possibly damaging Het
Hemk1 T C 9: 107,208,727 (GRCm39) R157G probably benign Het
Il10 A G 1: 130,951,940 (GRCm39) M158V probably benign Het
Jmjd1c G A 10: 67,069,193 (GRCm39) M1656I probably damaging Het
Kit A T 5: 75,770,054 (GRCm39) K155N probably benign Het
Lmtk3 C A 7: 45,436,286 (GRCm39) A114E probably damaging Het
Lztr1 A G 16: 17,329,993 (GRCm39) probably benign Het
Mras A G 9: 99,293,538 (GRCm39) F34S probably damaging Het
Myo1c A G 11: 75,553,461 (GRCm39) T516A probably damaging Het
Nme8 A C 13: 19,862,038 (GRCm39) V197G possibly damaging Het
Or13p5 T A 4: 118,592,568 (GRCm39) Y281N probably damaging Het
Or8k39 T C 2: 86,563,149 (GRCm39) D269G probably benign Het
Pcdhb9 A T 18: 37,534,459 (GRCm39) Y151F probably benign Het
Pcnx2 C T 8: 126,488,262 (GRCm39) probably null Het
Plekhg4 T C 8: 106,107,382 (GRCm39) F892S probably damaging Het
Prmt3 T A 7: 49,430,082 (GRCm39) F62I probably damaging Het
Ralgapa1 T C 12: 55,659,523 (GRCm39) Y1999C probably damaging Het
Rims2 A T 15: 39,208,809 (GRCm39) Q204L possibly damaging Het
Slc6a16 T G 7: 44,910,532 (GRCm39) H352Q probably benign Het
Snx9 T A 17: 5,942,084 (GRCm39) C70* probably null Het
Tas2r119 A T 15: 32,178,114 (GRCm39) I227F probably damaging Het
Tasor2 A G 13: 3,634,996 (GRCm39) S604P possibly damaging Het
Tg A T 15: 66,709,906 (GRCm39) Y163F probably benign Het
Tm2d2 A G 8: 25,512,784 (GRCm39) T211A probably damaging Het
Tmem132b A G 5: 125,699,710 (GRCm39) S83G probably benign Het
Trav9-4 T C 14: 53,913,886 (GRCm39) S47P probably benign Het
Vmn2r8 T A 5: 108,950,325 (GRCm39) H174L probably damaging Het
Xrcc1 A G 7: 24,259,270 (GRCm39) D85G possibly damaging Het
Zfp106 C G 2: 120,362,438 (GRCm39) A34P probably damaging Het
Zfp608 A T 18: 55,031,344 (GRCm39) N865K probably damaging Het
Zscan5b A G 7: 6,233,518 (GRCm39) D114G probably benign Het
Other mutations in Srprb
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0308:Srprb UTSW 9 103,079,204 (GRCm39) missense possibly damaging 0.64
R0739:Srprb UTSW 9 103,074,794 (GRCm39) missense probably damaging 1.00
R1434:Srprb UTSW 9 103,067,501 (GRCm39) missense probably damaging 1.00
R1679:Srprb UTSW 9 103,069,406 (GRCm39) splice site probably benign
R2370:Srprb UTSW 9 103,074,755 (GRCm39) missense probably damaging 0.99
R2851:Srprb UTSW 9 103,076,038 (GRCm39) nonsense probably null
R2853:Srprb UTSW 9 103,076,038 (GRCm39) nonsense probably null
R4161:Srprb UTSW 9 103,078,529 (GRCm39) missense possibly damaging 0.88
R4914:Srprb UTSW 9 103,079,147 (GRCm39) missense possibly damaging 0.59
R5260:Srprb UTSW 9 103,079,119 (GRCm39) missense probably damaging 1.00
R5588:Srprb UTSW 9 103,076,048 (GRCm39) nonsense probably null
R6052:Srprb UTSW 9 103,067,415 (GRCm39) missense possibly damaging 0.76
R9680:Srprb UTSW 9 103,074,807 (GRCm39) missense possibly damaging 0.60
R9691:Srprb UTSW 9 103,069,481 (GRCm39) missense probably damaging 1.00
R9775:Srprb UTSW 9 103,078,490 (GRCm39) missense probably benign 0.19
Predicted Primers PCR Primer
(F):5'- GGTTCATCCCATACCAGTGTC -3'
(R):5'- GCCTCACATATACTAGGCAAGC -3'

Sequencing Primer
(F):5'- CCAGTGTCAAAAGTCTTGGC -3'
(R):5'- CACCTGTGTTTACTATTAAGACATCC -3'
Posted On 2016-11-08