Incidental Mutation 'R0739:Srprb'
ID 70628
Institutional Source Beutler Lab
Gene Symbol Srprb
Ensembl Gene ENSMUSG00000032553
Gene Name signal recognition particle receptor, B subunit
Synonyms
MMRRC Submission 038920-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0739 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 103065232-103079264 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 103074794 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 116 (L116H)
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: L116H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035157
Gene: ENSMUSG00000032553
AA Change: L116H

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: L825H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000127808
Gene: ENSMUSG00000090639
AA Change: L825H

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 0.9387 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 95.0%
Validation Efficiency 98% (48/49)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl6 A G 11: 54,227,961 (GRCm39) E327G probably damaging Het
Adcy6 T C 15: 98,496,260 (GRCm39) D593G probably benign Het
Ankmy1 T C 1: 92,816,370 (GRCm39) D248G probably damaging Het
Atp2a1 T C 7: 126,047,428 (GRCm39) I743V possibly damaging Het
Axdnd1 T C 1: 156,208,456 (GRCm39) N396D possibly damaging Het
Cacna1e C T 1: 154,318,024 (GRCm39) A1391T probably damaging Het
Ccr8 G A 9: 119,923,415 (GRCm39) G177S probably damaging Het
Clmn C T 12: 104,747,276 (GRCm39) G757D possibly damaging Het
Cntn2 T A 1: 132,456,750 (GRCm39) I99F probably damaging Het
D6Ertd527e C G 6: 87,088,650 (GRCm39) A271G unknown Het
Dnah1 A T 14: 30,987,872 (GRCm39) C3515* probably null Het
Eif2d A G 1: 131,082,100 (GRCm39) Y64C probably damaging Het
Elovl4 A G 9: 83,667,162 (GRCm39) F65S probably damaging Het
F5 G C 1: 164,026,486 (GRCm39) R1686P probably damaging Het
Fbn1 T C 2: 125,209,550 (GRCm39) E938G probably benign Het
Foxn1 T C 11: 78,249,825 (GRCm39) T567A probably benign Het
Gabrr1 T C 4: 33,162,781 (GRCm39) M449T probably benign Het
Gdf2 C T 14: 33,663,178 (GRCm39) P24L probably damaging Het
Itgb3bp T C 4: 99,690,433 (GRCm39) I29V probably benign Het
Kcnk7 C T 19: 5,754,830 (GRCm39) probably null Het
Klf11 T C 12: 24,710,247 (GRCm39) S432P probably damaging Het
Neo1 C T 9: 58,829,160 (GRCm39) A580T probably benign Het
Nexmif G T X: 103,128,555 (GRCm39) Q1121K probably benign Het
Or51aa5 T C 7: 103,166,931 (GRCm39) Y220C probably damaging Het
Or51f5 T C 7: 102,423,872 (GRCm39) I47T probably damaging Het
Or5p62 T C 7: 107,771,217 (GRCm39) T245A probably benign Het
Osgepl1 G T 1: 53,362,354 (GRCm39) E399* probably null Het
Parvg T A 15: 84,215,222 (GRCm39) V197E probably damaging Het
Pcyt2 A G 11: 120,502,870 (GRCm39) L257P probably damaging Het
Pou3f2 T C 4: 22,486,960 (GRCm39) D391G possibly damaging Het
Psmd2 C T 16: 20,474,079 (GRCm39) R261C probably benign Het
Ptpn13 T C 5: 103,722,998 (GRCm39) F1981L probably benign Het
Rbp3 A T 14: 33,680,604 (GRCm39) I1069F probably benign Het
Rhbdf2 A T 11: 116,490,987 (GRCm39) L655Q probably damaging Het
Sec16a A T 2: 26,331,063 (GRCm39) N317K possibly damaging Het
Serpina3f T C 12: 104,184,612 (GRCm39) V252A probably damaging Het
Slc22a23 C T 13: 34,528,366 (GRCm39) G139S possibly damaging Het
Smyd2 T C 1: 189,621,059 (GRCm39) T220A possibly damaging Het
Snrpb2 T A 2: 142,907,281 (GRCm39) probably benign Het
Spopfm1 A G 3: 94,173,102 (GRCm39) M37V probably benign Het
Sptan1 A T 2: 29,903,530 (GRCm39) I1502F probably damaging Het
Stradb T A 1: 59,016,174 (GRCm39) probably benign Het
Tm9sf4 C A 2: 153,045,734 (GRCm39) F535L probably damaging Het
Tmprss15 A T 16: 78,821,736 (GRCm39) S440T possibly damaging Het
Tpr C T 1: 150,283,248 (GRCm39) A293V possibly damaging Het
Usp34 C T 11: 23,417,243 (GRCm39) T2964I possibly damaging Het
Usp35 C A 7: 96,960,874 (GRCm39) E851* probably null Het
Zc3h14 T A 12: 98,723,460 (GRCm39) V250D probably damaging Het
Zfp568 T A 7: 29,722,746 (GRCm39) C564S probably damaging Het
Other mutations in Srprb
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0308:Srprb UTSW 9 103,079,204 (GRCm39) missense possibly damaging 0.64
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
R5624:Srprb UTSW 9 103,074,800 (GRCm39) missense probably damaging 1.00
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'- GCAATCTGAAAAGCCAGCCTTAAGC -3'
(R):5'- AGAAATCCATCTGACTTGCTGCCTG -3'

Sequencing Primer
(F):5'- GTTCTAGCACCCCAGAAATGG -3'
(R):5'- CAGTGTGCTGATCTGATGGT -3'
Posted On 2013-09-30