Mutagenetix > Incidental Mutation

Incidental Mutation 'R5517:Srpr'

431356

Institutional Source

Beutler Lab

Gene Symbol

Srpr

Ensembl Gene

ENSMUSG00000032042

Gene Name

signal recognition particle receptor ('docking protein')

Synonyms

D11Mgi27, 1300011P19Rik

MMRRC Submission

043076-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R5517 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35200175-35247973 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35211350 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 21 (V21A)

Ref Sequence

ENSEMBL: ENSMUSP00000034541 (fasta)

Gene Model

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

AlphaFold

Q9DBG7

Predicted Effect

probably benign
Transcript: ENSMUST00000034541
AA Change: V21A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000034541
Gene: ENSMUSG00000032042
AA Change: V21A

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: 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

probably benign
Transcript: ENSMUST00000132799

SMART Domains

Protein: ENSMUSP00000115104
Gene: ENSMUSG00000032042

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

Predicted Effect

probably benign
Transcript: ENSMUST00000138287

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: 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

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

noncoding transcript
Transcript: ENSMUST00000143039

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151082

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

noncoding transcript
Transcript: ENSMUST00000154005

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216618

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

Meta Mutation Damage Score

0.0616

Coding Region Coverage

1x: 98.5%
3x: 97.4%
10x: 95.2%
20x: 90.5%

Validation Efficiency

99% (67/68)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	C	T	17: 35,958,341	R675K	possibly damaging	Het
Aire	A	T	10: 78,039,691	S282T	probably benign	Het
Ak9	A	G	10: 41,340,891	E283G	probably benign	Het
Akap2	T	C	4: 57,855,987	Y439H	probably damaging	Het
Akap9	T	A	5: 4,001,665	D1477E	possibly damaging	Het
Ap2a1	T	C	7: 44,906,981	D273G	possibly damaging	Het
Apob	T	C	12: 7,990,906	L664P	probably damaging	Het
Arhgap35	A	T	7: 16,563,489	F550L	probably damaging	Het
Armc2	T	C	10: 41,963,850	E373G	probably benign	Het
Atp8b2	C	A	3: 89,946,031	A726S	probably benign	Het
C030048H21Rik	T	A	2: 26,255,887	Q87L	probably damaging	Het
Cd244	T	A	1: 171,577,974		probably benign	Het
Cdk10	T	A	8: 123,230,587		probably null	Het
Cenpe	C	A	3: 135,223,265	P310Q	probably damaging	Het
Chuk	T	A	19: 44,097,533		probably null	Het
Crebl2	T	C	6: 134,851,176	S104P	probably benign	Het
Ddo	A	G	10: 40,647,730	K239E	probably benign	Het
Defb5	A	G	8: 19,250,852		probably null	Het
Dhx35	T	A	2: 158,834,912	M422K	probably damaging	Het
Fchsd1	C	T	18: 37,959,873		probably benign	Het
Gatm	G	A	2: 122,595,543	T409I	probably damaging	Het
Gdpd1	A	T	11: 87,059,506	D80E	probably damaging	Het
Gspt1	C	A	16: 11,253,979	G7C	unknown	Het
Hells	G	A	19: 38,954,800	S516N	probably benign	Het
Ints1	A	G	5: 139,752,787	S2069P	possibly damaging	Het
Kank4	G	A	4: 98,774,881	T690M	probably damaging	Het
Kcnq4	T	C	4: 120,715,809	N265S	possibly damaging	Het
Kif5b	C	A	18: 6,220,954	A385S	probably benign	Het
Map2	T	C	1: 66,415,256	S1102P	probably benign	Het
Mcm7	A	G	5: 138,164,871	S340P	possibly damaging	Het
Mcrs1	C	T	15: 99,246,995	R246H	possibly damaging	Het
Myo16	T	A	8: 10,560,226	M1189K	probably benign	Het
Olfr1302	G	T	2: 111,780,459	M46I	probably benign	Het
Olfr463	A	T	11: 87,893,066	I286N	probably damaging	Het
Olfr847	G	A	9: 19,375,767	T38I	probably damaging	Het
Otog	A	G	7: 46,274,571	N1118S	probably damaging	Het
Pcdhb7	G	T	18: 37,341,793		probably benign	Het
Picalm	C	T	7: 90,170,598	T189I	possibly damaging	Het
Ptx4	T	A	17: 25,124,786	S337T	possibly damaging	Het
Rad51ap2	C	T	12: 11,458,312	S745L	probably benign	Het
Rspry1	G	A	8: 94,636,760		probably null	Het
Scn5a	T	G	9: 119,495,713	I1350L	probably damaging	Het
Sgk2	T	C	2: 162,997,835	L121P	probably damaging	Het
Slc17a1	A	T	13: 23,872,592		probably benign	Het
Slc6a12	A	G	6: 121,354,339	N183S	probably benign	Het
Smg9	C	A	7: 24,414,913		probably benign	Het
Spred1	G	A	2: 117,177,714	S367N	probably damaging	Het
Taar2	A	T	10: 23,940,729	I56F	possibly damaging	Het
Taf1a	T	G	1: 183,395,985	L67R	probably damaging	Het
Tbc1d10b	C	A	7: 127,198,607	R787S	possibly damaging	Het
Topbp1	T	A	9: 103,336,114	N1044K	probably benign	Het
Usp24	A	G	4: 106,375,674	T886A	probably benign	Het
Vmn2r26	A	G	6: 124,050,717	D472G	probably damaging	Het
Zyg11a	T	C	4: 108,204,746	N286S	possibly damaging	Het

Other mutations in Srpr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01065:Srpr	APN	9	35213438	missense	probably damaging	1.00
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
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
R8861:Srpr	UTSW	9	35215749	missense	probably benign	0.00
R9481:Srpr	UTSW	9	35214719	missense	probably damaging	1.00
R9729:Srpr	UTSW	9	35214273	missense	probably benign	0.03
R9765:Srpr	UTSW	9	35211374	missense	possibly damaging	0.69

Predicted Primers

PCR Primer
(F):5'- TGAGTCTACGTCATCTCGCG -3'
(R):5'- CCGACCAGTTTGAGGAGATC -3'

Sequencing Primer
(F):5'- AGGCTCGTAGCGGAAGTGC -3'
(R):5'- CGACCAGTTTGAGGAGATCAGAAC -3'

Posted On

2016-10-05