Incidental Mutation 'R6208:Srpra'
ID 503266
Institutional Source Beutler Lab
Gene Symbol Srpra
Ensembl Gene ENSMUSG00000032042
Gene Name signal recognition particle receptor alpha
Synonyms D11Mgi27, 1300011P19Rik, Srpr
MMRRC Submission 044342-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # R6208 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 35122499-35128299 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35127291 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 614 (T614A)
Ref Sequence ENSEMBL: ENSMUSP00000034541 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034541] [ENSMUST00000059057] [ENSMUST00000063782] [ENSMUST00000121564] [ENSMUST00000127996] [ENSMUST00000132799] [ENSMUST00000138287] [ENSMUST00000142595] [ENSMUST00000151658]
AlphaFold Q9DBG7
Predicted Effect possibly damaging
Transcript: ENSMUST00000034541
AA Change: T614A

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000034541
Gene: ENSMUSG00000032042
AA Change: T614A

DomainStartEndE-ValueType
Pfam:SRP-alpha_N 27 301 4.4e-69 PFAM
SRP54_N 318 395 4.04e-6 SMART
AAA 415 568 9.65e-10 SMART
SRP54 416 635 3.47e-78 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000059057
SMART Domains Protein: ENSMUSP00000058377
Gene: ENSMUSG00000050471

DomainStartEndE-ValueType
low complexity region 71 86 N/A INTRINSIC
Pfam:SIR2_2 157 301 1.9e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000063782
SMART Domains Protein: ENSMUSP00000066281
Gene: ENSMUSG00000050471

DomainStartEndE-ValueType
Pfam:SIR2_2 75 225 7.7e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121564
SMART Domains Protein: ENSMUSP00000113537
Gene: ENSMUSG00000050471

DomainStartEndE-ValueType
low complexity region 71 86 N/A INTRINSIC
Pfam:SIR2_2 157 301 2.7e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127996
SMART Domains Protein: ENSMUSP00000118037
Gene: ENSMUSG00000039048

DomainStartEndE-ValueType
low complexity region 3 20 N/A INTRINSIC
Pfam:DAO 65 456 1.8e-62 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132799
SMART Domains Protein: ENSMUSP00000115104
Gene: ENSMUSG00000032042

DomainStartEndE-ValueType
Pfam:SRP54 3 132 8.6e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000138287
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154005
Predicted Effect probably benign
Transcript: ENSMUST00000133739
SMART Domains Protein: ENSMUSP00000121690
Gene: ENSMUSG00000050471

DomainStartEndE-ValueType
low complexity region 30 45 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000142595
SMART Domains Protein: ENSMUSP00000117147
Gene: ENSMUSG00000039048

DomainStartEndE-ValueType
low complexity region 3 20 N/A INTRINSIC
Pfam:DAO 65 187 3.4e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000151658
SMART Domains Protein: ENSMUSP00000120284
Gene: ENSMUSG00000039048

DomainStartEndE-ValueType
low complexity region 3 20 N/A INTRINSIC
Pfam:DAO 65 121 5.8e-9 PFAM
low complexity region 128 138 N/A INTRINSIC
Meta Mutation Damage Score 0.2737 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 98% (57/58)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene encodes a subunit of the endoplasmic reticulum signal recognition particle receptor that, in conjunction with the signal recognition particle, is involved in the targeting and translocation of signal sequence tagged secretory and membrane proteins across the endoplasmic reticulum. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6a A T 3: 32,766,043 (GRCm39) I18F probably benign Het
Apol11a C T 15: 77,401,241 (GRCm39) R243C probably damaging Het
Asap3 A G 4: 135,968,508 (GRCm39) M687V probably benign Het
Axdnd1 C T 1: 156,220,426 (GRCm39) probably benign Het
Baz2b A G 2: 59,755,150 (GRCm39) F1026S probably damaging Het
Bsg T C 10: 79,544,672 (GRCm39) L70P probably damaging Het
Col10a1 A G 10: 34,270,582 (GRCm39) N185D possibly damaging Het
Col6a2 T A 10: 76,450,891 (GRCm39) N50I possibly damaging Het
Cux2 G A 5: 121,998,885 (GRCm39) P1352S possibly damaging Het
Defa25 A G 8: 21,575,197 (GRCm39) probably null Het
Emc1 G T 4: 139,081,582 (GRCm39) R70L probably damaging Het
Fat1 T C 8: 45,480,650 (GRCm39) F3028S probably damaging Het
Fhit T C 14: 9,573,435 (GRCm38) E205G probably benign Het
Gaa C A 11: 119,171,997 (GRCm39) A700D probably benign Het
Gm20830 T G Y: 6,916,792 (GRCm39) E109A probably benign Homo
Grm1 A T 10: 10,595,690 (GRCm39) F646Y probably damaging Het
Hp1bp3 A G 4: 137,944,481 (GRCm39) probably benign Het
Lce1d G A 3: 92,593,312 (GRCm39) P34S unknown Het
Lpar1 G A 4: 58,504,630 (GRCm39) Q13* probably null Het
Lrrc61 C T 6: 48,545,839 (GRCm39) R221* probably null Het
Map2 A G 1: 66,470,749 (GRCm39) N328D probably damaging Het
Mndal T A 1: 173,684,988 (GRCm39) D527V possibly damaging Het
Mycbp2 T G 14: 103,532,664 (GRCm39) N430T probably benign Het
Myo1e A G 9: 70,283,887 (GRCm39) Y861C probably damaging Het
Nav2 A G 7: 49,213,851 (GRCm39) T1622A probably damaging Het
Nom1 A T 5: 29,654,617 (GRCm39) H773L possibly damaging Het
Npc2 G T 12: 84,803,919 (GRCm39) P144Q probably damaging Het
Npnt A G 3: 132,655,774 (GRCm39) probably benign Het
Nxpe4 A T 9: 48,304,678 (GRCm39) Y255F probably benign Het
Obscn G A 11: 58,958,474 (GRCm39) A3769V possibly damaging Het
Optc T C 1: 133,832,737 (GRCm39) D121G probably damaging Het
Pard6a T C 8: 106,428,866 (GRCm39) F26L probably damaging Het
Pcdhga4 T A 18: 37,819,762 (GRCm39) I437N probably damaging Het
Phf12 G T 11: 77,914,417 (GRCm39) V71F probably damaging Het
Phf21b T A 15: 84,679,317 (GRCm39) S282C probably damaging Het
Pou5f1 T C 17: 35,821,357 (GRCm39) F323S possibly damaging Het
Psmd5 A T 2: 34,757,023 (GRCm39) I67N probably damaging Het
Pyroxd1 A G 6: 142,303,182 (GRCm39) K273R probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rpusd1 A T 17: 25,949,352 (GRCm39) H174L probably damaging Het
Ryr2 T C 13: 11,910,106 (GRCm39) K94R probably benign Het
Scn2b A G 9: 45,029,328 (GRCm39) R3G probably benign Het
Sf3b2 A T 19: 5,325,126 (GRCm39) M782K possibly damaging Het
Skint7 A G 4: 111,842,073 (GRCm39) probably null Het
Slc43a1 A G 2: 84,687,184 (GRCm39) I319V possibly damaging Het
Snupn T A 9: 56,890,247 (GRCm39) M356K probably damaging Het
Spata31d1a C A 13: 59,848,378 (GRCm39) R1250M probably damaging Het
Sprr2h T C 3: 92,294,216 (GRCm39) V21A unknown Het
Stk36 A T 1: 74,650,591 (GRCm39) Q327L probably benign Het
Syne3 A G 12: 104,909,622 (GRCm39) I738T probably benign Het
Tcea3 A T 4: 135,975,360 (GRCm39) M1L probably damaging Het
Tead2 G T 7: 44,867,526 (GRCm39) R85L probably damaging Het
Thap7 T C 16: 17,346,300 (GRCm39) N228D possibly damaging Het
Trip11 T A 12: 101,865,154 (GRCm39) E173V probably damaging Het
Ttc38 T A 15: 85,725,698 (GRCm39) M187K possibly damaging Het
Vmn1r193 T A 13: 22,403,138 (GRCm39) T285S possibly damaging Het
Vmn2r106 T C 17: 20,488,591 (GRCm39) T603A probably damaging Het
Vps39 A T 2: 120,163,897 (GRCm39) M355K probably damaging Het
Wnt5b G T 6: 119,423,473 (GRCm39) L51I probably damaging Het
Xxylt1 A G 16: 30,826,626 (GRCm39) Y230H probably benign Het
Other mutations in Srpra
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01065:Srpra APN 9 35,124,734 (GRCm39) missense probably damaging 1.00
IGL01806:Srpra APN 9 35,126,201 (GRCm39) missense possibly damaging 0.90
IGL02581:Srpra APN 9 35,126,328 (GRCm39) critical splice donor site probably null
IGL03002:Srpra APN 9 35,126,017 (GRCm39) missense probably damaging 0.98
IGL03132:Srpra APN 9 35,125,574 (GRCm39) splice site probably null
R0294:Srpra UTSW 9 35,126,811 (GRCm39) missense probably damaging 1.00
R0455:Srpra UTSW 9 35,126,277 (GRCm39) missense probably benign 0.01
R0483:Srpra UTSW 9 35,127,291 (GRCm39) missense possibly damaging 0.95
R0531:Srpra UTSW 9 35,124,797 (GRCm39) missense probably benign
R1112:Srpra UTSW 9 35,126,255 (GRCm39) missense probably benign 0.03
R1507:Srpra UTSW 9 35,126,766 (GRCm39) missense probably benign 0.08
R1771:Srpra UTSW 9 35,124,147 (GRCm39) missense possibly damaging 0.69
R1970:Srpra UTSW 9 35,124,834 (GRCm39) splice site probably null
R1971:Srpra UTSW 9 35,124,834 (GRCm39) splice site probably null
R2442:Srpra UTSW 9 35,123,297 (GRCm39) missense possibly damaging 0.90
R4475:Srpra UTSW 9 35,124,155 (GRCm39) missense possibly damaging 0.92
R4575:Srpra UTSW 9 35,125,904 (GRCm39) missense possibly damaging 0.92
R4576:Srpra UTSW 9 35,125,904 (GRCm39) missense possibly damaging 0.92
R4578:Srpra UTSW 9 35,125,904 (GRCm39) missense possibly damaging 0.92
R4793:Srpra UTSW 9 35,124,447 (GRCm39) missense probably benign 0.12
R4930:Srpra UTSW 9 35,126,326 (GRCm39) missense probably benign 0.00
R4942:Srpra UTSW 9 35,126,766 (GRCm39) missense probably benign 0.08
R5517:Srpra UTSW 9 35,122,646 (GRCm39) missense probably benign
R8340:Srpra UTSW 9 35,127,102 (GRCm39) missense probably damaging 1.00
R8414:Srpra UTSW 9 35,126,133 (GRCm39) missense probably benign 0.08
R8861:Srpra UTSW 9 35,127,045 (GRCm39) missense probably benign 0.00
R9481:Srpra UTSW 9 35,126,015 (GRCm39) missense probably damaging 1.00
R9729:Srpra UTSW 9 35,125,569 (GRCm39) missense probably benign 0.03
R9765:Srpra UTSW 9 35,122,670 (GRCm39) missense possibly damaging 0.69
Predicted Primers PCR Primer
(F):5'- CTCGGCTCATTGATGGCATTG -3'
(R):5'- TACACTGAAGACAAGTTGCTCAC -3'

Sequencing Primer
(F):5'- TTTGACACCATTGATGACAAGG -3'
(R):5'- TGAAGACAAGTTGCTCACATACTC -3'
Posted On 2018-02-27