Incidental Mutation 'IGL01065:Srpr'
ID51858
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Srpr
Ensembl Gene ENSMUSG00000032042
Gene Namesignal recognition particle receptor ('docking protein')
SynonymsD11Mgi27, 1300011P19Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.962) question?
Stock #IGL01065
Quality Score
Status
Chromosome9
Chromosomal Location35200175-35247973 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 35213438 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Arginine at position 112 (W112R)
Ref Sequence ENSEMBL: ENSMUSP00000149923 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034541] [ENSMUST00000043805] [ENSMUST00000059057] [ENSMUST00000063782] [ENSMUST00000121564] [ENSMUST00000127996] [ENSMUST00000132799] [ENSMUST00000138287] [ENSMUST00000138692] [ENSMUST00000151658] [ENSMUST00000154691] [ENSMUST00000142595] [ENSMUST00000139703]
Predicted Effect probably damaging
Transcript: ENSMUST00000034541
AA Change: W247R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034541
Gene: ENSMUSG00000032042
AA Change: W247R

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 noncoding transcript
Transcript: ENSMUST00000130072
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: ENSMUST00000133739
SMART Domains Protein: ENSMUSP00000121690
Gene: ENSMUSG00000050471

DomainStartEndE-ValueType
low complexity region 30 45 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000138287
AA Change: W112R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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 noncoding transcript
Transcript: ENSMUST00000143039
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: 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: 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: 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
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
Aen G A 7: 78,907,302 M299I probably damaging Het
Apob A G 12: 8,003,299 Y1247C probably damaging Het
Atg16l1 A T 1: 87,785,931 N401I probably damaging Het
Bcam T C 7: 19,756,799 H591R probably benign Het
Bcat1 T C 6: 145,000,289 S446G possibly damaging Het
C2cd5 A G 6: 143,078,279 S262P probably damaging Het
Clrn1 T C 3: 58,885,025 K6E probably damaging Het
D17H6S53E A T 17: 35,127,283 K57* probably null Het
Dennd1a T A 2: 37,844,905 I17F probably benign Het
Depdc7 A C 2: 104,722,081 Y460* probably null Het
Disp3 T C 4: 148,261,183 Y400C probably damaging Het
Edem3 T C 1: 151,777,551 Y203H probably damaging Het
Fam71a T C 1: 191,163,027 D473G probably benign Het
Fbxl5 A G 5: 43,745,334 C679R probably damaging Het
Fhad1 T C 4: 141,905,612 T1194A probably benign Het
Gipc2 A G 3: 152,102,657 L253P possibly damaging Het
Gpr26 T C 7: 131,967,501 Y192H probably damaging Het
Hoxb6 A G 11: 96,300,809 T186A probably damaging Het
Kif24 A G 4: 41,423,639 probably benign Het
Lonp1 T C 17: 56,615,500 probably benign Het
Lrp1 A G 10: 127,575,038 I1427T probably benign Het
Lrp2 C T 2: 69,469,436 E3091K possibly damaging Het
Lzts1 T C 8: 69,136,092 N404S probably benign Het
Map3k4 A T 17: 12,232,990 D1470E probably damaging Het
Med30 A T 15: 52,721,060 N125Y probably benign Het
Mgam G A 6: 40,662,710 probably null Het
Mrps33 G A 6: 39,802,513 R83* probably null Het
Notch3 A T 17: 32,146,416 Y1107* probably null Het
Rc3h2 T A 2: 37,377,844 probably benign Het
Rev1 T C 1: 38,099,009 E65G possibly damaging Het
Rgl1 T C 1: 152,519,142 N760S probably damaging Het
Slc16a4 T C 3: 107,303,100 I362T possibly damaging Het
Slc25a24 G A 3: 109,158,651 probably benign Het
Slc2a4 G T 11: 69,945,956 probably benign Het
Slc39a13 T A 2: 91,063,706 I256F probably damaging Het
Spdya A T 17: 71,556,325 N23I possibly damaging Het
Tbc1d4 A C 14: 101,449,193 probably benign Het
Ttc39d G A 17: 80,216,274 G121R probably damaging Het
Tuba3a C T 6: 125,282,957 V9M possibly damaging Het
Upf2 A G 2: 5,961,300 K244E unknown Het
Usp39 T C 6: 72,339,975 Y141C probably damaging Het
Other mutations in Srpr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01806:Srpr APN 9 35214905 missense possibly damaging 0.90
IGL02581:Srpr APN 9 35215032 critical splice donor site probably null
IGL03002:Srpr APN 9 35214721 missense probably damaging 0.98
IGL03132:Srpr APN 9 35214278 splice site probably null
R0294:Srpr UTSW 9 35215515 missense probably damaging 1.00
R0455:Srpr UTSW 9 35214981 missense probably benign 0.01
R0483:Srpr UTSW 9 35215995 missense possibly damaging 0.95
R0531:Srpr UTSW 9 35213501 missense probably benign
R1112:Srpr UTSW 9 35214959 missense probably benign 0.03
R1507:Srpr UTSW 9 35215470 missense probably benign 0.08
R1771:Srpr UTSW 9 35212851 missense possibly damaging 0.69
R1970:Srpr UTSW 9 35213538 splice site probably null
R1971:Srpr UTSW 9 35213538 splice site probably null
R2442:Srpr UTSW 9 35212001 missense possibly damaging 0.90
R4475:Srpr UTSW 9 35212859 missense possibly damaging 0.92
R4575:Srpr UTSW 9 35214608 missense possibly damaging 0.92
R4576:Srpr UTSW 9 35214608 missense possibly damaging 0.92
R4578:Srpr UTSW 9 35214608 missense possibly damaging 0.92
R4793:Srpr UTSW 9 35213151 missense probably benign 0.12
R4930:Srpr UTSW 9 35215030 missense probably benign 0.00
R4942:Srpr UTSW 9 35215470 missense probably benign 0.08
R5517:Srpr UTSW 9 35211350 missense probably benign
R6208:Srpr UTSW 9 35215995 missense possibly damaging 0.95
R8340:Srpr UTSW 9 35215806 missense probably damaging 1.00
R8414:Srpr UTSW 9 35214837 missense probably benign 0.08
Posted On2013-06-21