Incidental Mutation 'IGL03132:Srpra'
ID 410393
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Srpra
Ensembl Gene ENSMUSG00000032042
Gene Name signal recognition particle receptor alpha
Synonyms D11Mgi27, 1300011P19Rik, Srpr
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # IGL03132
Quality Score
Status
Chromosome 9
Chromosomal Location 35122499-35128299 bp(+) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) G to A at 35125574 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000034541 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034541] [ENSMUST00000034541] [ENSMUST00000034541] [ENSMUST00000043805] [ENSMUST00000059057] [ENSMUST00000063782] [ENSMUST00000121564] [ENSMUST00000127996] [ENSMUST00000138287] [ENSMUST00000151658] [ENSMUST00000132799] [ENSMUST00000139703] [ENSMUST00000154691] [ENSMUST00000138692] [ENSMUST00000142595]
AlphaFold Q9DBG7
Predicted Effect probably null
Transcript: ENSMUST00000034541
SMART Domains Protein: ENSMUSP00000034541
Gene: ENSMUSG00000032042

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 null
Transcript: ENSMUST00000034541
SMART Domains Protein: ENSMUSP00000034541
Gene: ENSMUSG00000032042

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 null
Transcript: ENSMUST00000034541
SMART Domains Protein: ENSMUSP00000034541
Gene: ENSMUSG00000032042

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: ENSMUST00000043805
SMART Domains Protein: ENSMUSP00000038924
Gene: ENSMUSG00000039048

DomainStartEndE-ValueType
low complexity region 3 20 N/A INTRINSIC
Pfam:DAO 65 462 2.8e-50 PFAM
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: ENSMUST00000138287
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143039
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130072
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154005
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151082
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
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: ENSMUST00000139703
SMART Domains Protein: ENSMUSP00000122535
Gene: ENSMUSG00000039048

DomainStartEndE-ValueType
low complexity region 3 20 N/A INTRINSIC
Pfam:DAO 65 184 1.6e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154691
SMART Domains Protein: ENSMUSP00000123496
Gene: ENSMUSG00000039048

DomainStartEndE-ValueType
low complexity region 3 20 N/A INTRINSIC
low complexity region 29 43 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000138692
SMART Domains Protein: ENSMUSP00000120556
Gene: ENSMUSG00000039048

DomainStartEndE-ValueType
low complexity region 3 20 N/A INTRINSIC
low complexity region 29 43 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: ENSMUST00000133739
SMART Domains Protein: ENSMUSP00000121690
Gene: ENSMUSG00000050471

DomainStartEndE-ValueType
low complexity region 30 45 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb1 G A 6: 88,815,941 (GRCm39) R177C probably benign Het
Adam21 C A 12: 81,607,148 (GRCm39) G205* probably null Het
Baz2b T A 2: 59,738,097 (GRCm39) probably benign Het
Col6a3 C T 1: 90,731,615 (GRCm39) G939D probably damaging Het
Csf1r A G 18: 61,261,171 (GRCm39) E749G probably benign Het
Dnm3 C T 1: 161,838,674 (GRCm39) probably null Het
Dsg3 A G 18: 20,657,653 (GRCm39) D241G probably damaging Het
Dst T C 1: 34,295,722 (GRCm39) S6015P probably benign Het
Dvl2 T C 11: 69,896,514 (GRCm39) S183P probably benign Het
Exoc6b T C 6: 84,768,246 (GRCm39) N699S possibly damaging Het
Fat2 T C 11: 55,144,746 (GRCm39) R4043G probably benign Het
Gbp9 T A 5: 105,232,819 (GRCm39) T278S possibly damaging Het
Gm2a T A 11: 54,994,474 (GRCm39) I48N probably damaging Het
Gorasp2 T C 2: 70,514,379 (GRCm39) V232A probably benign Het
Gpa33 G A 1: 165,980,218 (GRCm39) D94N probably benign Het
Il1rap A T 16: 26,498,869 (GRCm39) S123C probably damaging Het
Kctd17 T C 15: 78,319,887 (GRCm39) S102P probably damaging Het
Lamb1 A G 12: 31,350,333 (GRCm39) probably null Het
Mfsd1 T A 3: 67,495,273 (GRCm39) I131K possibly damaging Het
Pkhd1l1 G A 15: 44,438,013 (GRCm39) C3576Y probably damaging Het
Pla2g4a A T 1: 149,778,035 (GRCm39) probably benign Het
Ptpn11 T A 5: 121,272,878 (GRCm39) D575V possibly damaging Het
Reck A T 4: 43,938,898 (GRCm39) R755* probably null Het
Scgb2b21 A G 7: 33,219,299 (GRCm39) V35A possibly damaging Het
Stk11ip T C 1: 75,512,733 (GRCm39) S1025P probably benign Het
Tmprss9 G A 10: 80,730,699 (GRCm39) V742M probably damaging Het
Trh T C 6: 92,220,755 (GRCm39) T36A probably benign Het
Trim35 A G 14: 66,546,595 (GRCm39) E454G probably damaging Het
Vmn2r99 C T 17: 19,598,485 (GRCm39) Q170* probably null 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
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
R6208:Srpra UTSW 9 35,127,291 (GRCm39) missense possibly damaging 0.95
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
Posted On 2016-08-02