Incidental Mutation 'R9691:Srprb'
ID 729168
Institutional Source Beutler Lab
Gene Symbol Srprb
Ensembl Gene ENSMUSG00000032553
Gene Name signal recognition particle receptor, B subunit
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9691 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 103065232-103079264 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103069481 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 158 (Y158H)
Ref Sequence ENSEMBL: ENSMUSP00000035157 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035157] [ENSMUST00000166836] [ENSMUST00000190760]
AlphaFold P47758
PDB Structure The Structure of the Mammalian SRP Receptor [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000035157
AA Change: Y158H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035157
Gene: ENSMUSG00000032553
AA Change: Y158H

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 probably damaging
Transcript: ENSMUST00000166836
AA Change: Y867H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000127808
Gene: ENSMUSG00000090639
AA Change: Y867H

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
Predicted Effect probably damaging
Transcript: ENSMUST00000190760
AA Change: Y11H

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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 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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T C 19: 8,989,090 (GRCm39) M3458T possibly damaging Het
Akap9 T G 5: 4,010,491 (GRCm39) L398R probably damaging Het
Anks3 A T 16: 4,759,840 (GRCm39) C635S probably benign Het
Ankzf1 C A 1: 75,175,196 (GRCm39) Q649K probably benign Het
Atp8a2 T C 14: 60,245,829 (GRCm39) E621G probably damaging Het
Bscl2 A G 19: 8,817,110 (GRCm39) T13A probably benign Het
Cd109 T C 9: 78,611,074 (GRCm39) L1230P possibly damaging Het
Celsr2 T A 3: 108,301,551 (GRCm39) S2678C probably damaging Het
Cnot10 A G 9: 114,420,715 (GRCm39) L709P probably damaging Het
Col5a1 G A 2: 27,842,994 (GRCm39) R449Q unknown Het
Cyp3a25 T A 5: 145,931,732 (GRCm39) E125D probably benign Het
Ddx50 T G 10: 62,476,524 (GRCm39) I250L probably benign Het
Dnah10 A G 5: 124,852,249 (GRCm39) N1859S probably damaging Het
Dnajc13 A G 9: 104,042,211 (GRCm39) L2008P probably damaging Het
Dock4 C T 12: 40,686,097 (GRCm39) L111F probably damaging Het
Ffar3 C G 7: 30,555,119 (GRCm39) R67P probably damaging Het
Gdap2 C T 3: 100,109,441 (GRCm39) A486V probably benign Het
Gm45871 G A 18: 90,610,111 (GRCm39) V450M possibly damaging Het
Golgb1 T A 16: 36,718,996 (GRCm39) S342T probably damaging Het
Grip1 G A 10: 119,874,569 (GRCm39) E778K possibly damaging Het
Grm5 T C 7: 87,723,903 (GRCm39) I731T probably damaging Het
Gxylt2 A T 6: 100,760,109 (GRCm39) T215S probably damaging Het
Jakmip2 A T 18: 43,673,685 (GRCm39) I793N probably damaging Het
Kcnc1 C A 7: 46,076,955 (GRCm39) C252* probably null Het
Kdr T A 5: 76,129,521 (GRCm39) D122V probably damaging Het
Kmt2a G A 9: 44,731,557 (GRCm39) P2920L unknown Het
Lrrc31 T C 3: 30,741,617 (GRCm39) E264G probably damaging Het
Mbnl1 A G 3: 60,529,614 (GRCm39) T256A probably benign Het
Myh3 A G 11: 66,991,921 (GRCm39) E1822G possibly damaging Het
Ndst4 A G 3: 125,518,344 (GRCm39) N155S unknown Het
Negr1 T C 3: 156,267,898 (GRCm39) C23R probably damaging Het
Nfia T A 4: 97,671,465 (GRCm39) D58E probably damaging Het
Nrp1 A T 8: 129,202,650 (GRCm39) N545I probably damaging Het
Nrtn T A 17: 57,059,480 (GRCm39) probably benign Het
Or2a14 A G 6: 43,130,629 (GRCm39) H130R probably benign Het
Or4c100 T C 2: 88,356,421 (GRCm39) F165L probably benign Het
Or5an11 C T 19: 12,246,379 (GRCm39) R262* probably null Het
Pclo G A 5: 14,727,558 (GRCm39) D2139N unknown Het
Phlpp1 C T 1: 106,246,699 (GRCm39) Q630* probably null Het
Pkd1 T C 17: 24,796,812 (GRCm39) V2429A possibly damaging Het
Pramel20 T A 4: 143,299,328 (GRCm39) H330Q probably benign Het
Pramel30 T C 4: 144,056,844 (GRCm39) L9P probably damaging Het
Prkch A G 12: 73,805,730 (GRCm39) K502E probably damaging Het
Rad51ap2 A G 12: 11,509,413 (GRCm39) K930E possibly damaging Het
Reep4 T A 14: 70,785,683 (GRCm39) N204K probably benign Het
Rin2 T C 2: 145,690,764 (GRCm39) L144P probably damaging Het
Scfd2 T C 5: 74,691,611 (GRCm39) S224G possibly damaging Het
Thbs4 T A 13: 92,890,896 (GRCm39) H857L probably damaging Het
Tmem184a A G 5: 139,798,790 (GRCm39) L77P possibly damaging Het
Trbv26 G T 6: 41,204,478 (GRCm39) C7F probably benign Het
Trip11 A G 12: 101,850,123 (GRCm39) S1314P probably benign Het
Ttc28 A T 5: 111,431,879 (GRCm39) T1951S probably benign Het
Ttc29 A C 8: 78,972,895 (GRCm39) D115A possibly damaging Het
Upf2 G A 2: 6,032,024 (GRCm39) V857I unknown Het
Vmn2r43 A G 7: 8,247,787 (GRCm39) V792A probably damaging Het
Washc5 A T 15: 59,218,706 (GRCm39) I687N probably damaging Het
Wwc2 G A 8: 48,281,799 (GRCm39) probably benign Het
Xirp2 G A 2: 67,340,539 (GRCm39) E927K possibly damaging Het
Zc3hav1l A G 6: 38,276,112 (GRCm39) F22L probably benign Het
Zfp407 C T 18: 84,578,312 (GRCm39) A934T probably benign Het
Zfp986 T A 4: 145,626,070 (GRCm39) S243R probably benign Het
Zfyve9 T C 4: 108,576,305 (GRCm39) T259A 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
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
R9775:Srprb UTSW 9 103,078,490 (GRCm39) missense probably benign 0.19
Predicted Primers PCR Primer
(F):5'- TGGGACAACCTGGTAAAAGACC -3'
(R):5'- GACCCTTGAAAGCCCAAGTC -3'

Sequencing Primer
(F):5'- CCTTAATTAATGCTTAATTCCAGCCC -3'
(R):5'- GAAAGCCCAAGTCATTTCTTGTGTC -3'
Posted On 2022-10-06