Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01806:Srpra'

155686

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: 0.962) question?

Stock #

IGL01806

Quality Score

Status

Chromosome

Chromosomal Location

35122499-35128299 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35126201 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 465 (T465A)

Ref Sequence

ENSEMBL: ENSMUSP00000034541 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034541] [ENSMUST00000043805] [ENSMUST00000059057] [ENSMUST00000063782] [ENSMUST00000121564] [ENSMUST00000127996] [ENSMUST00000132799] [ENSMUST00000138287] [ENSMUST00000138692] [ENSMUST00000142595] [ENSMUST00000151658] [ENSMUST00000154691] [ENSMUST00000139703]

AlphaFold

Q9DBG7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034541
AA Change: T465A

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000034541
Gene: ENSMUSG00000032042
AA Change: T465A

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:SIR2_2	75	225	7.7e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121564

SMART Domains

Protein: ENSMUSP00000113537
Gene: ENSMUSG00000050471

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
low complexity region	3	20	N/A	INTRINSIC
Pfam:DAO	65	456	1.8e-62	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130072

Predicted Effect

possibly damaging
Transcript: ENSMUST00000132799
AA Change: T3A

PolyPhen 2 Score 0.643 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000115104
Gene: ENSMUSG00000032042
AA Change: T3A

Domain	Start	End	E-Value	Type
Pfam:SRP54	3	132	8.6e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138287

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143039

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154005

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151082

Predicted Effect

probably benign
Transcript: ENSMUST00000138692

SMART Domains

Protein: ENSMUSP00000120556
Gene: ENSMUSG00000039048

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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: ENSMUST00000133739

SMART Domains

Protein: ENSMUSP00000121690
Gene: ENSMUSG00000050471

Domain	Start	End	E-Value	Type
low complexity region	30	45	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000154691

SMART Domains

Protein: ENSMUSP00000123496
Gene: ENSMUSG00000039048

Domain	Start	End	E-Value	Type
low complexity region	3	20	N/A	INTRINSIC
low complexity region	29	43	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000139703

SMART Domains

Protein: ENSMUSP00000122535
Gene: ENSMUSG00000039048

Domain	Start	End	E-Value	Type
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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg1	T	C	8: 95,739,559 (GRCm39)	S670P	probably damaging	Het
Ap5m1	T	A	14: 49,317,797 (GRCm39)	F351L	probably damaging	Het
Cacnb2	A	G	2: 14,619,079 (GRCm39)	Y38C	probably damaging	Het
Ccdc28a	C	T	10: 18,095,262 (GRCm39)	A151T	possibly damaging	Het
Cgnl1	T	C	9: 71,557,604 (GRCm39)	E976G	probably damaging	Het
Cyp2c39	A	G	19: 39,525,264 (GRCm39)	Y189C	probably damaging	Het
Dbt	T	C	3: 116,326,954 (GRCm39)	V101A	probably damaging	Het
Evc	A	G	5: 37,477,578 (GRCm39)		probably null	Het
Fastkd5	A	G	2: 130,457,532 (GRCm39)	Y353H	probably benign	Het
Gm6408	G	A	5: 146,418,892 (GRCm39)	R30H	probably damaging	Het
Lhx8	A	G	3: 154,027,992 (GRCm39)	S156P	probably damaging	Het
Mki67	T	C	7: 135,300,686 (GRCm39)	I1449M	probably damaging	Het
Mtrr	A	T	13: 68,728,719 (GRCm39)	V27E	possibly damaging	Het
Myh14	A	G	7: 44,307,363 (GRCm39)	V226A	probably benign	Het
Nek1	T	C	8: 61,577,246 (GRCm39)	S1076P	possibly damaging	Het
Or52z14	C	T	7: 103,253,548 (GRCm39)	A229V	probably benign	Het
Or6ae1	G	T	7: 139,742,841 (GRCm39)	N7K	probably benign	Het
Pcdhb7	A	G	18: 37,475,548 (GRCm39)	D228G	possibly damaging	Het
Pias3	T	C	3: 96,611,073 (GRCm39)	S414P	probably benign	Het
Plcd4	G	A	1: 74,591,192 (GRCm39)	V196I	probably benign	Het
Proca1	A	G	11: 78,095,737 (GRCm39)	D123G	probably damaging	Het
Ptpn3	A	G	4: 57,254,915 (GRCm39)		probably null	Het
Ptprq	C	A	10: 107,535,469 (GRCm39)	R432L	probably damaging	Het
Rasgrp4	A	G	7: 28,838,475 (GRCm39)	K108E	possibly damaging	Het
Siglecg	A	G	7: 43,060,888 (GRCm39)		probably null	Het
Tmpo	G	A	10: 90,999,104 (GRCm39)	R228C	probably benign	Het
Zeb1	G	A	18: 5,767,867 (GRCm39)	V793M	possibly damaging	Het

Other mutations in Srpra

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01065:Srpra	APN	9	35,124,734 (GRCm39)	missense	probably damaging	1.00
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
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

2014-02-04