Mutagenetix > Incidental Mutation

Incidental Mutation 'R5260:Srprb'

401384

Institutional Source

Beutler Lab

Gene Symbol

Srprb

Ensembl Gene

ENSMUSG00000032553

Gene Name

signal recognition particle receptor, B subunit

Synonyms

MMRRC Submission

042829-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5260 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103065232-103079264 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103079119 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 756 (L756Q)

Ref Sequence

ENSEMBL: ENSMUSP00000127808 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035157] [ENSMUST00000112645] [ENSMUST00000166836]

AlphaFold

P47758

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035157
AA Change: L47Q

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000035157
Gene: ENSMUSG00000032553
AA Change: L47Q

Domain	Start	End	E-Value	Type
Pfam:Arf	49	221	1.1e-17	PFAM
Pfam:SRPRB	60	239	1.2e-75	PFAM
Pfam:FeoB_N	63	214	7e-7	PFAM
Pfam:MMR_HSR1	64	179	3.8e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000112645

SMART Domains

Protein: ENSMUSP00000108264
Gene: ENSMUSG00000032554

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
TR_FER	25	352	5.04e-194	SMART
TR_FER	360	686	8.64e-193	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163567

Predicted Effect

probably damaging
Transcript: ENSMUST00000166836
AA Change: L756Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000127808
Gene: ENSMUSG00000090639
AA Change: L756Q

Domain	Start	End	E-Value	Type
low complexity region	6	19	N/A	INTRINSIC
TR_FER	25	338	4.98e-175	SMART
TR_FER	346	672	8.64e-193	SMART
Pfam:Arf	758	928	1.5e-15	PFAM
Pfam:SRPRB	769	948	1.4e-73	PFAM
Pfam:MMR_HSR1	773	888	7.8e-8	PFAM

Meta Mutation Damage Score

0.2913

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.0%

Validation Efficiency

99% (77/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has similarity to mouse protein which is a subunit of the signal recognition particle receptor (SR). This subunit is a transmembrane GTPase belonging to the GTPase superfamily. It anchors alpha subunit, a peripheral membrane GTPase, to the ER membrane. SR is required for the cotranslational targeting of both secretory and membrane proteins to the ER membrane. [provided by RefSeq, Jul 2008]

Allele List at MGI

All alleles(6) : Gene trapped(6)

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abraxas2	A	T	7: 132,461,003 (GRCm39)	I14F	probably damaging	Het
Acin1	T	C	14: 54,880,279 (GRCm39)		probably benign	Het
Adamts9	C	A	6: 92,784,118 (GRCm39)	V1579L	probably benign	Het
Adra2a	T	A	19: 54,035,039 (GRCm39)	C132S	probably damaging	Het
Aif1	T	A	17: 35,390,917 (GRCm39)		probably null	Het
Atf5	A	T	7: 44,464,510 (GRCm39)	Y27*	probably null	Het
Atm	A	G	9: 53,417,911 (GRCm39)	S799P	probably damaging	Het
Bmp2k	T	G	5: 97,235,210 (GRCm39)		probably benign	Het
Chaf1a	C	T	17: 56,372,000 (GRCm39)	H723Y	probably damaging	Het
Clint1	T	C	11: 45,798,769 (GRCm39)	W493R	probably damaging	Het
Cyb561a3	T	A	19: 10,565,230 (GRCm39)	V198D	possibly damaging	Het
Cyp2j8	T	C	4: 96,389,301 (GRCm39)	E174G	possibly damaging	Het
Cyp4v3	C	T	8: 45,760,017 (GRCm39)	G512S	probably damaging	Het
Dnah8	T	A	17: 30,919,393 (GRCm39)	V1122D	probably benign	Het
Doc2b	C	A	11: 75,676,989 (GRCm39)	G128V	probably damaging	Het
Dysf	T	C	6: 84,127,016 (GRCm39)	V1378A	probably damaging	Het
Efcab5	A	T	11: 77,028,477 (GRCm39)	S421T	possibly damaging	Het
Efcab6	T	G	15: 83,829,324 (GRCm39)	D672A	probably benign	Het
Eif2ak3	C	A	6: 70,870,113 (GRCm39)	H933Q	probably damaging	Het
Erc1	A	T	6: 119,738,120 (GRCm39)	N574K	probably damaging	Het
Eri2	A	T	7: 119,387,069 (GRCm39)		probably benign	Het
Faxc	A	G	4: 21,948,744 (GRCm39)	Y152C	probably damaging	Het
Fbxl7	T	A	15: 26,543,585 (GRCm39)	Y354F	probably damaging	Het
Fras1	T	A	5: 96,883,046 (GRCm39)	I2526N	possibly damaging	Het
Gm5424	A	T	10: 61,907,374 (GRCm39)		noncoding transcript	Het
Gm6728	T	C	6: 136,463,701 (GRCm39)		noncoding transcript	Het
Golgb1	A	T	16: 36,733,503 (GRCm39)	S917C	probably benign	Het
Gtpbp3	T	C	8: 71,942,062 (GRCm39)		probably benign	Het
Gusb	A	T	5: 130,028,829 (GRCm39)	Y220*	probably null	Het
Gvin3	A	G	7: 106,198,411 (GRCm39)		noncoding transcript	Het
Hmcn1	A	G	1: 150,471,612 (GRCm39)	V4914A	possibly damaging	Het
Iars2	C	A	1: 185,055,931 (GRCm39)	C211F	probably damaging	Het
Kif5b	A	G	18: 6,211,058 (GRCm39)	L802P	probably damaging	Het
Kif5c	A	G	2: 49,625,602 (GRCm39)	E624G	probably damaging	Het
Kmt2d	G	T	15: 98,740,741 (GRCm39)		probably benign	Het
Krt82	C	A	15: 101,456,823 (GRCm39)	G186C	possibly damaging	Het
Lca5	G	A	9: 83,305,276 (GRCm39)	R177C	probably damaging	Het
Mab21l4	A	T	1: 93,087,700 (GRCm39)	V51E	probably damaging	Het
Mier1	T	C	4: 103,019,907 (GRCm39)	S318P	probably benign	Het
Obscn	A	T	11: 58,894,195 (GRCm39)	I1207N	probably damaging	Het
Oog4	C	T	4: 143,164,424 (GRCm39)	G369D	probably benign	Het
Or4c126	A	G	2: 89,824,526 (GRCm39)	D263G	probably damaging	Het
Or4k52	A	G	2: 111,611,526 (GRCm39)	Y287C	probably damaging	Het
Or52d13	A	G	7: 103,109,822 (GRCm39)	F198L	probably benign	Het
Or5d35	A	C	2: 87,855,818 (GRCm39)	I251L	probably benign	Het
Plec	T	C	15: 76,060,824 (GRCm39)	T3060A	probably damaging	Het
Plekhh2	C	T	17: 84,884,593 (GRCm39)	T769I	probably damaging	Het
Prkaa1	A	T	15: 5,190,149 (GRCm39)	S65C	probably damaging	Het
Psma3	T	C	12: 71,031,416 (GRCm39)		probably benign	Het
Ptpn18	T	A	1: 34,502,591 (GRCm39)		probably benign	Het
Ptprv	T	C	1: 135,039,998 (GRCm39)		noncoding transcript	Het
Rac1	C	A	5: 143,493,886 (GRCm39)	V104L	probably benign	Het
Serpinb7	A	T	1: 107,362,479 (GRCm39)	N61I	possibly damaging	Het
Sirt7	A	C	11: 120,511,347 (GRCm39)		probably benign	Het
Srl	G	A	16: 4,300,759 (GRCm39)	R333*	probably null	Het
Tchhl1	T	C	3: 93,378,102 (GRCm39)	S269P	probably damaging	Het
Tdo2	C	T	3: 81,882,630 (GRCm39)		probably null	Het
Teddm1a	T	C	1: 153,767,646 (GRCm39)	Y37H	probably benign	Het
Tenm3	T	C	8: 48,689,890 (GRCm39)	Y1899C	probably damaging	Het
Tep1	T	C	14: 51,076,088 (GRCm39)	T1681A	probably benign	Het
Timm44	G	T	8: 4,325,919 (GRCm39)		probably null	Het
Trp73	A	G	4: 154,147,059 (GRCm39)	V322A	possibly damaging	Het
Tsr1	A	C	11: 74,796,781 (GRCm39)	E611A	probably damaging	Het
Unc80	A	G	1: 66,685,746 (GRCm39)	N2290S	possibly damaging	Het
Ush2a	T	C	1: 188,679,276 (GRCm39)	V4828A	possibly damaging	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Wnt9b	C	A	11: 103,622,875 (GRCm39)	S176I	possibly damaging	Het
Zfp329	A	G	7: 12,540,453 (GRCm39)		probably benign	Het
Zfp352	T	A	4: 90,112,697 (GRCm39)	V279D	probably damaging	Het
Zfp932	C	T	5: 110,157,501 (GRCm39)	Q400*	probably null	Het
Zxdc	T	A	6: 90,359,075 (GRCm39)	L569Q	probably damaging	Het

Other mutations in Srprb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0308:Srprb	UTSW	9	103,079,204 (GRCm39)	missense	possibly damaging	0.64
R0739:Srprb	UTSW	9	103,074,794 (GRCm39)	missense	probably damaging	1.00
R1434:Srprb	UTSW	9	103,067,501 (GRCm39)	missense	probably damaging	1.00
R1679:Srprb	UTSW	9	103,069,406 (GRCm39)	splice site	probably benign
R2370:Srprb	UTSW	9	103,074,755 (GRCm39)	missense	probably damaging	0.99
R2851:Srprb	UTSW	9	103,076,038 (GRCm39)	nonsense	probably null
R2853:Srprb	UTSW	9	103,076,038 (GRCm39)	nonsense	probably null
R4161:Srprb	UTSW	9	103,078,529 (GRCm39)	missense	possibly damaging	0.88
R4914:Srprb	UTSW	9	103,079,147 (GRCm39)	missense	possibly damaging	0.59
R5588:Srprb	UTSW	9	103,076,048 (GRCm39)	nonsense	probably null
R5624:Srprb	UTSW	9	103,074,800 (GRCm39)	missense	probably damaging	1.00
R6052:Srprb	UTSW	9	103,067,415 (GRCm39)	missense	possibly damaging	0.76
R9680:Srprb	UTSW	9	103,074,807 (GRCm39)	missense	possibly damaging	0.60
R9691:Srprb	UTSW	9	103,069,481 (GRCm39)	missense	probably damaging	1.00
R9775:Srprb	UTSW	9	103,078,490 (GRCm39)	missense	probably benign	0.19

Predicted Primers

PCR Primer
(F):5'- CGCCTCATGTAAGTCCTGTC -3'
(R):5'- ACTACAACTCCCGTGATGCC -3'

Sequencing Primer
(F):5'- TCATGTAAGTCCTGTCCCAAGAC -3'
(R):5'- TAGAGCCACGTAACTTTGGC -3'

Posted On

2016-07-06