Mutagenetix > Incidental Mutation

Incidental Mutation 'R4930:Srpr'

434665

Institutional Source

Beutler Lab

Gene Symbol

Srpr

Ensembl Gene

ENSMUSG00000032042

Gene Name

signal recognition particle receptor ('docking protein')

Synonyms

D11Mgi27, 1300011P19Rik

MMRRC Submission

042531-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R4930 (G1)

Quality Score

209

Status

Validated

Chromosome

Chromosomal Location

35200175-35247973 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35215030 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 506 (F506L)

Ref Sequence

ENSEMBL: ENSMUSP00000034541 (fasta)

Gene Model

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

AlphaFold

Q9DBG7

Predicted Effect

probably benign
Transcript: ENSMUST00000034541
AA Change: F506L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000034541
Gene: ENSMUSG00000032042
AA Change: F506L

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

probably benign
Transcript: ENSMUST00000132799
AA Change: F44L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000115104
Gene: ENSMUSG00000032042
AA Change: F44L

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

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: 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

noncoding transcript
Transcript: ENSMUST00000154005

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151082

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143039

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: 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: 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: 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

Meta Mutation Damage Score

0.0611

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.1%

Validation Efficiency

99% (88/89)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	C	T	12: 72,906,234 (GRCm38)	E242K	possibly damaging	Het
A930011G23Rik	A	G	5: 99,222,404 (GRCm38)	M499T	possibly damaging	Het
Abcb8	G	A	5: 24,400,781 (GRCm38)	V196M	possibly damaging	Het
Ahnak	T	C	19: 9,010,967 (GRCm38)	M3205T	possibly damaging	Het
Ankrd1	A	G	19: 36,115,033 (GRCm38)	Y265H	probably damaging	Het
Apeh	A	G	9: 108,087,825 (GRCm38)	S446P	probably benign	Het
Apip	C	A	2: 103,091,881 (GRCm38)	Y197*	probably null	Het
Arhgef11	T	G	3: 87,728,594 (GRCm38)	V925G	probably damaging	Het
Arid4b	T	C	13: 14,187,477 (GRCm38)	V929A	probably damaging	Het
Asah2	T	A	19: 32,052,906 (GRCm38)	D122V	probably benign	Het
B2m	A	T	2: 122,151,647 (GRCm38)	D116V	possibly damaging	Het
BC067074	G	T	13: 113,327,662 (GRCm38)	G1453C	probably damaging	Het
Bhmt-ps1	A	G	4: 26,369,184 (GRCm38)		noncoding transcript	Het
Cacna1g	T	A	11: 94,444,073 (GRCm38)	I803F	probably damaging	Het
Ccdc43	A	T	11: 102,690,285 (GRCm38)	V113E	probably damaging	Het
Cenpj	A	T	14: 56,534,781 (GRCm38)	Y388*	probably null	Het
Chd3	G	A	11: 69,354,208 (GRCm38)		probably benign	Het
Chil3	C	T	3: 106,164,208 (GRCm38)	D47N	possibly damaging	Het
Colgalt2	A	G	1: 152,499,959 (GRCm38)	T361A	possibly damaging	Het
Cops3	C	A	11: 59,835,367 (GRCm38)		probably benign	Het
Crb2	G	T	2: 37,783,314 (GRCm38)	G74V	probably damaging	Het
Cyp20a1	A	T	1: 60,366,719 (GRCm38)	Y224F	probably damaging	Het
Diaph3	A	G	14: 87,141,166 (GRCm38)		probably benign	Het
Dnah3	A	T	7: 119,951,681 (GRCm38)	Y3127*	probably null	Het
Eef1akmt3	A	C	10: 127,041,355 (GRCm38)	S14A	possibly damaging	Het
Ehf	C	A	2: 103,266,857 (GRCm38)	R250L	probably damaging	Het
Eps8l1	G	A	7: 4,460,916 (GRCm38)	R13Q	possibly damaging	Het
Frem2	A	C	3: 53,656,315 (GRCm38)	V257G	possibly damaging	Het
Gc	T	C	5: 89,439,589 (GRCm38)	T259A	probably benign	Het
Gm4952	A	T	19: 12,627,012 (GRCm38)	N263Y	probably benign	Het
Gpcpd1	T	A	2: 132,546,874 (GRCm38)	H326L	probably damaging	Het
Helz	T	C	11: 107,620,168 (GRCm38)	F617L	probably damaging	Het
Hoxb4	T	C	11: 96,318,836 (GRCm38)	Y23H	probably damaging	Het
Hsf4	T	A	8: 105,272,698 (GRCm38)		probably null	Het
Ighv1-81	T	C	12: 115,920,304 (GRCm38)	D109G	probably damaging	Het
Irx4	T	C	13: 73,268,913 (GRCm38)	V476A	probably benign	Het
Katnb1	T	A	8: 95,097,294 (GRCm38)		probably null	Het
L3mbtl1	A	G	2: 162,965,772 (GRCm38)	Y490C	probably damaging	Het
Lemd2	A	G	17: 27,193,832 (GRCm38)		probably null	Het
Lrrc38	A	T	4: 143,369,868 (GRCm38)	T250S	probably damaging	Het
Map3k8	A	T	18: 4,349,215 (GRCm38)	Y34*	probably null	Het
Mgst1	T	A	6: 138,153,509 (GRCm38)	F79I	probably benign	Het
Midn	T	C	10: 80,155,355 (GRCm38)	S357P	probably benign	Het
Mmp3	T	A	9: 7,447,640 (GRCm38)	D208E	probably benign	Het
Mrps26	A	G	2: 130,564,942 (GRCm38)	E163G	probably damaging	Het
Mycbpap	A	T	11: 94,503,157 (GRCm38)	M371K	probably benign	Het
Mynn	A	C	3: 30,607,042 (GRCm38)	N91T	probably damaging	Het
Nek11	A	G	9: 105,300,066 (GRCm38)	L292P	probably damaging	Het
Nid1	A	T	13: 13,510,011 (GRCm38)	R1228W	probably damaging	Het
Nphs2	T	C	1: 156,320,929 (GRCm38)	Y121H	probably damaging	Het
Olfr1020	T	A	2: 85,849,893 (GRCm38)	I147N	probably benign	Het
Olfr1166	A	C	2: 88,124,340 (GRCm38)	I215S	probably benign	Het
Olfr1178	G	A	2: 88,391,940 (GRCm38)	R231H	probably benign	Het
Olfr1497	T	C	19: 13,795,551 (GRCm38)	H20R	probably benign	Het
Olfr161	T	G	16: 3,592,435 (GRCm38)	L13R	probably damaging	Het
Olfr204	C	A	16: 59,314,873 (GRCm38)	C178F	probably damaging	Het
Olfr872	T	C	9: 20,260,017 (GRCm38)	I59T	probably damaging	Het
P2rx7	C	T	5: 122,670,479 (GRCm38)	T308M	probably damaging	Het
Prdx6	C	T	1: 161,241,693 (GRCm38)		probably benign	Het
Rad54b	T	A	4: 11,615,579 (GRCm38)	D862E	probably damaging	Het
Ripor1	A	G	8: 105,617,182 (GRCm38)	Y344C	probably damaging	Het
Rnf112	T	C	11: 61,453,465 (GRCm38)	M43V	probably benign	Het
Rp1l1	A	G	14: 64,032,206 (GRCm38)	N1747S	probably benign	Het
Rps27	A	G	3: 90,212,999 (GRCm38)	V22A	probably damaging	Het
Spaca1	A	G	4: 34,044,236 (GRCm38)	V86A	possibly damaging	Het
Spdef	A	G	17: 27,718,162 (GRCm38)	Y156H	probably damaging	Het
Specc1	A	C	11: 62,118,958 (GRCm38)	E433D	possibly damaging	Het
Stxbp5	A	G	10: 9,760,866 (GRCm38)		probably benign	Het
Syne1	C	T	10: 5,052,777 (GRCm38)	R8046Q	probably damaging	Het
Tbx5	T	A	5: 119,883,025 (GRCm38)	S365R	probably benign	Het
Terb1	G	T	8: 104,447,948 (GRCm38)	P698Q	probably benign	Het
Tmbim7	T	A	5: 3,661,948 (GRCm38)	Y27*	probably null	Het
Tmem106c	C	A	15: 97,965,028 (GRCm38)	A60E	possibly damaging	Het
Ttc26	A	T	6: 38,391,540 (GRCm38)	Y174F	probably damaging	Het
Ttc6	T	A	12: 57,673,823 (GRCm38)		probably null	Het
Ttn	T	C	2: 76,732,370 (GRCm38)	I28747V	possibly damaging	Het
Unc13a	C	T	8: 71,630,504 (GRCm38)		probably null	Het
Wdr81	T	C	11: 75,451,924 (GRCm38)	D839G	probably benign	Het
Wfdc15a	G	C	2: 164,199,805 (GRCm38)	Q33E	probably benign	Het
Zfp456	T	C	13: 67,366,946 (GRCm38)	R214G	probably benign	Het
Zfp457	T	A	13: 67,294,100 (GRCm38)	Y137F	probably damaging	Het

Other mutations in Srpr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01065:Srpr	APN	9	35,213,438 (GRCm38)	missense	probably damaging	1.00
IGL01806:Srpr	APN	9	35,214,905 (GRCm38)	missense	possibly damaging	0.90
IGL02581:Srpr	APN	9	35,215,032 (GRCm38)	critical splice donor site	probably null
IGL03002:Srpr	APN	9	35,214,721 (GRCm38)	missense	probably damaging	0.98
IGL03132:Srpr	APN	9	35,214,278 (GRCm38)	splice site	probably null
R0294:Srpr	UTSW	9	35,215,515 (GRCm38)	missense	probably damaging	1.00
R0455:Srpr	UTSW	9	35,214,981 (GRCm38)	missense	probably benign	0.01
R0483:Srpr	UTSW	9	35,215,995 (GRCm38)	missense	possibly damaging	0.95
R0531:Srpr	UTSW	9	35,213,501 (GRCm38)	missense	probably benign
R1112:Srpr	UTSW	9	35,214,959 (GRCm38)	missense	probably benign	0.03
R1507:Srpr	UTSW	9	35,215,470 (GRCm38)	missense	probably benign	0.08
R1771:Srpr	UTSW	9	35,212,851 (GRCm38)	missense	possibly damaging	0.69
R1970:Srpr	UTSW	9	35,213,538 (GRCm38)	splice site	probably null
R1971:Srpr	UTSW	9	35,213,538 (GRCm38)	splice site	probably null
R2442:Srpr	UTSW	9	35,212,001 (GRCm38)	missense	possibly damaging	0.90
R4475:Srpr	UTSW	9	35,212,859 (GRCm38)	missense	possibly damaging	0.92
R4575:Srpr	UTSW	9	35,214,608 (GRCm38)	missense	possibly damaging	0.92
R4576:Srpr	UTSW	9	35,214,608 (GRCm38)	missense	possibly damaging	0.92
R4578:Srpr	UTSW	9	35,214,608 (GRCm38)	missense	possibly damaging	0.92
R4793:Srpr	UTSW	9	35,213,151 (GRCm38)	missense	probably benign	0.12
R4942:Srpr	UTSW	9	35,215,470 (GRCm38)	missense	probably benign	0.08
R5517:Srpr	UTSW	9	35,211,350 (GRCm38)	missense	probably benign
R6208:Srpr	UTSW	9	35,215,995 (GRCm38)	missense	possibly damaging	0.95
R8340:Srpr	UTSW	9	35,215,806 (GRCm38)	missense	probably damaging	1.00
R8414:Srpr	UTSW	9	35,214,837 (GRCm38)	missense	probably benign	0.08
R8861:Srpr	UTSW	9	35,215,749 (GRCm38)	missense	probably benign	0.00
R9481:Srpr	UTSW	9	35,214,719 (GRCm38)	missense	probably damaging	1.00
R9729:Srpr	UTSW	9	35,214,273 (GRCm38)	missense	probably benign	0.03
R9765:Srpr	UTSW	9	35,211,374 (GRCm38)	missense	possibly damaging	0.69

Predicted Primers

PCR Primer
(F):5'- TGCTGCCTGTGATACATTTCGG -3'
(R):5'- AAAACCTGTCCTATTCTTGGCC -3'

Sequencing Primer
(F):5'- ATACATTTCGGGCTGGGGC -3'
(R):5'- CCAAAACCATTCAGGGAAAGG -3'

Posted On

2016-10-21