Mutagenetix > Incidental Mutation

Incidental Mutation 'R6986:Srp72'

542965

Institutional Source

Beutler Lab

Gene Symbol

Srp72

Ensembl Gene

ENSMUSG00000036323

Gene Name

signal recognition particle 72

Synonyms

5730576P14Rik, 72kDa

MMRRC Submission

045093-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.947) question?

Stock #

R6986 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

77122548-77147782 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 77142723 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 428 (S428T)

Ref Sequence

ENSEMBL: ENSMUSP00000113312 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000101087] [ENSMUST00000120550]

AlphaFold

F8VQC1

Predicted Effect

probably benign
Transcript: ENSMUST00000101087
AA Change: S489T

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000098648
Gene: ENSMUSG00000036323
AA Change: S489T

Domain	Start	End	E-Value	Type
low complexity region	3	11	N/A	INTRINSIC
Pfam:TPR_9	19	70	2.7e-2	PFAM
Pfam:SRP_TPR_like	30	157	5.5e-25	PFAM
Pfam:TPR_8	176	208	2.3e-3	PFAM
Pfam:TPR_1	226	259	2.4e-4	PFAM
Pfam:TPR_2	226	259	4.9e-5	PFAM
Pfam:TPR_8	226	259	1.1e-2	PFAM
Pfam:TPR_9	412	490	1.3e-3	PFAM
Pfam:SRP72	531	588	6.2e-26	PFAM
low complexity region	630	639	N/A	INTRINSIC
low complexity region	647	668	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000120550
AA Change: S428T

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000113312
Gene: ENSMUSG00000036323
AA Change: S428T

Domain	Start	End	E-Value	Type
low complexity region	3	11	N/A	INTRINSIC
Pfam:TPR_9	19	72	2.5e-2	PFAM
Blast:TPR	109	142	2e-11	BLAST
Blast:TPR	176	209	5e-10	BLAST
Pfam:TPR_6	280	310	2.5e-3	PFAM
Pfam:TPR_9	351	429	1.4e-3	PFAM
Pfam:SRP72	465	527	5.8e-24	PFAM
low complexity region	569	578	N/A	INTRINSIC
low complexity region	586	607	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 98.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the 72 kDa subunit of the signal recognition particle (SRP), a ribonucleoprotein complex that mediates the targeting of secretory proteins to the endoplasmic reticulum (ER). The SRP complex consists of a 7S RNA and 6 protein subunits: SRP9, SRP14, SRP19, SRP54, SRP68, and SRP72, that are bound to the 7S RNA as monomers or heterodimers. SRP has at least 3 distinct functions that can be associated with the protein subunits: signal recognition, translational arrest, and ER membrane targeting by interaction with the docking protein. Mutations in this gene are associated with familial bone marrow failure. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy9	T	C	16: 4,129,441 (GRCm39)	N482D	probably damaging	Het
Agbl3	A	G	6: 34,816,387 (GRCm39)	K766E	probably benign	Het
Aldh3a1	T	A	11: 61,105,077 (GRCm39)	I154N	probably damaging	Het
Cdca2	C	T	14: 67,932,446 (GRCm39)	V486I	probably benign	Het
Celf3	G	C	3: 94,395,024 (GRCm39)	A313P	possibly damaging	Het
Cgrrf1	T	C	14: 47,069,586 (GRCm39)		probably benign	Het
Chd7	T	A	4: 8,859,285 (GRCm39)	N2458K	possibly damaging	Het
Chrna5	T	A	9: 54,913,741 (GRCm39)	M429K	possibly damaging	Het
Cux2	A	T	5: 122,006,642 (GRCm39)	L876Q	possibly damaging	Het
Cyb5rl	T	A	4: 106,928,073 (GRCm39)	S3T	probably benign	Het
Ehd4	A	T	2: 119,927,571 (GRCm39)	M321K	probably damaging	Het
Ell2	C	A	13: 75,910,006 (GRCm39)	L119M	probably damaging	Het
Endod1	T	C	9: 14,268,606 (GRCm39)	E293G	probably damaging	Het
Fat3	G	A	9: 15,932,631 (GRCm39)	T1434I	probably damaging	Het
Flrt2	T	A	12: 95,747,459 (GRCm39)	I599N	probably damaging	Het
Gm6370	T	A	5: 146,430,398 (GRCm39)		probably null	Het
Gm7247	T	C	14: 51,602,832 (GRCm39)	M56T	possibly damaging	Het
H3c8	A	G	13: 23,719,603 (GRCm39)		probably benign	Het
Herc2	G	A	7: 55,756,201 (GRCm39)	R747H	possibly damaging	Het
Ints8	T	C	4: 11,204,474 (GRCm39)	Y994C	probably damaging	Het
Irf1	A	G	11: 53,664,966 (GRCm39)	T165A	probably damaging	Het
Lgr6	G	T	1: 134,921,694 (GRCm39)	Q217K	possibly damaging	Het
Lrrc36	T	C	8: 106,185,079 (GRCm39)	S619P	probably damaging	Het
Morn4	T	C	19: 42,066,453 (GRCm39)	N45D	possibly damaging	Het
Mtarc2	T	C	1: 184,573,460 (GRCm39)	H53R	probably benign	Het
Mtmr3	T	C	11: 4,439,692 (GRCm39)	T583A	probably damaging	Het
Ncdn	A	G	4: 126,641,022 (GRCm39)	Y493H	probably damaging	Het
Nckap1	T	A	2: 80,350,911 (GRCm39)	Y726F	probably benign	Het
Optc	T	A	1: 133,825,702 (GRCm39)	M275L	probably benign	Het
Or2w25	A	G	11: 59,504,924 (GRCm39)	K378R	possibly damaging	Het
Or6c69c	G	A	10: 129,911,199 (GRCm39)	V307M	possibly damaging	Het
Perm1	A	T	4: 156,302,976 (GRCm39)	K507*	probably null	Het
Pgbd5	C	T	8: 125,111,212 (GRCm39)	E160K	possibly damaging	Het
Polr2k	C	A	15: 36,175,181 (GRCm39)	P14T	probably benign	Het
Ppp2r3d	A	T	9: 124,439,080 (GRCm38)	Y112*	probably null	Het
Pramel14	T	A	4: 143,719,888 (GRCm39)	D159V	probably damaging	Het
Rnase9	T	C	14: 51,276,537 (GRCm39)	N147S	probably benign	Het
Rnls	C	T	19: 33,359,781 (GRCm39)	G11D	probably damaging	Het
Sbf2	T	C	7: 109,929,822 (GRCm39)	T333A	probably damaging	Het
Scn3a	A	T	2: 65,338,962 (GRCm39)	N572K	probably damaging	Het
Serinc3	A	G	2: 163,469,891 (GRCm39)	L319P	probably benign	Het
Setbp1	T	C	18: 78,901,054 (GRCm39)	D871G	probably damaging	Het
Sf3b2	T	C	19: 5,329,923 (GRCm39)	T661A	probably benign	Het
Sgsm2	T	A	11: 74,782,867 (GRCm39)	R30W	probably damaging	Het
Sh3tc1	A	G	5: 35,881,288 (GRCm39)	S52P	probably benign	Het
Smox	C	T	2: 131,364,031 (GRCm39)	A45V	possibly damaging	Het
Snrpa	A	T	7: 26,892,389 (GRCm39)	M57K	probably damaging	Het
Spata31f3	A	G	4: 42,868,696 (GRCm39)	V309A	possibly damaging	Het
Srbd1	A	T	17: 86,292,650 (GRCm39)	I973N	probably damaging	Het
Ss18l2	A	G	9: 121,541,671 (GRCm39)	Y50C	probably damaging	Het
St14	A	G	9: 31,007,845 (GRCm39)	L578P	probably damaging	Het
Ticam1	C	T	17: 56,576,900 (GRCm39)	E732K	probably benign	Het
Tmc1	T	C	19: 20,801,647 (GRCm39)	N460D	probably benign	Het
Tnni3k	C	T	3: 154,667,501 (GRCm39)	G280R	probably damaging	Het
Trgv6	G	T	13: 19,374,814 (GRCm39)	G40W	possibly damaging	Het
Trpc3	A	G	3: 36,709,165 (GRCm39)		probably null	Het
Tshr	C	T	12: 91,500,731 (GRCm39)	A152V	probably damaging	Het
Tuft1	G	A	3: 94,521,461 (GRCm39)	P358S	probably damaging	Het
Vmn2r120	A	T	17: 57,816,340 (GRCm39)	S672T	probably damaging	Het
Vmn2r83	G	T	10: 79,316,093 (GRCm39)	E496D	probably benign	Het
Vmn2r91	A	G	17: 18,356,271 (GRCm39)	N646S	probably benign	Het
Zfp9	A	G	6: 118,441,426 (GRCm39)	V412A	possibly damaging	Het
Zmynd8	G	T	2: 165,675,335 (GRCm39)	H273N	probably damaging	Het

Other mutations in Srp72

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00473:Srp72	APN	5	77,132,023 (GRCm39)	missense	probably damaging	1.00
IGL00915:Srp72	APN	5	77,126,460 (GRCm39)	nonsense	probably null
IGL02731:Srp72	APN	5	77,142,062 (GRCm39)	missense	probably damaging	0.98
PIT4468001:Srp72	UTSW	5	77,142,053 (GRCm39)	missense	probably benign
R0009:Srp72	UTSW	5	77,135,732 (GRCm39)	missense	probably damaging	0.98
R0318:Srp72	UTSW	5	77,132,047 (GRCm39)	missense	probably benign	0.27
R1645:Srp72	UTSW	5	77,146,125 (GRCm39)	missense	probably benign	0.05
R1678:Srp72	UTSW	5	77,128,154 (GRCm39)	missense	probably damaging	1.00
R1682:Srp72	UTSW	5	77,135,717 (GRCm39)	missense	possibly damaging	0.95
R2037:Srp72	UTSW	5	77,124,338 (GRCm39)	missense	probably damaging	1.00
R2364:Srp72	UTSW	5	77,132,209 (GRCm39)	missense	probably benign	0.00
R2876:Srp72	UTSW	5	77,143,767 (GRCm39)	splice site	probably benign
R4072:Srp72	UTSW	5	77,146,098 (GRCm39)	missense	probably benign	0.24
R4073:Srp72	UTSW	5	77,146,098 (GRCm39)	missense	probably benign	0.24
R4074:Srp72	UTSW	5	77,146,098 (GRCm39)	missense	probably benign	0.24
R4638:Srp72	UTSW	5	77,138,142 (GRCm39)	missense	probably benign	0.00
R4803:Srp72	UTSW	5	77,132,231 (GRCm39)	missense	probably damaging	0.97
R4864:Srp72	UTSW	5	77,132,009 (GRCm39)	missense	probably benign	0.35
R5188:Srp72	UTSW	5	77,122,598 (GRCm39)	missense	possibly damaging	0.54
R5217:Srp72	UTSW	5	77,128,375 (GRCm39)	missense	probably damaging	1.00
R5459:Srp72	UTSW	5	77,132,185 (GRCm39)	missense	probably benign	0.16
R5616:Srp72	UTSW	5	77,135,781 (GRCm39)	missense	probably damaging	1.00
R6460:Srp72	UTSW	5	77,135,838 (GRCm39)	missense	probably damaging	1.00
R6595:Srp72	UTSW	5	77,132,047 (GRCm39)	missense	probably benign	0.27
R6959:Srp72	UTSW	5	77,142,070 (GRCm39)	missense	possibly damaging	0.91
R7674:Srp72	UTSW	5	77,122,673 (GRCm39)	missense	probably damaging	0.98
R8729:Srp72	UTSW	5	77,142,005 (GRCm39)	missense	probably benign	0.11
R9402:Srp72	UTSW	5	77,124,329 (GRCm39)	nonsense	probably null
R9533:Srp72	UTSW	5	77,128,274 (GRCm39)	missense	probably benign	0.00
Z1177:Srp72	UTSW	5	77,146,200 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGACCTAGAACAGCTGTGG -3'
(R):5'- GTGGAAGCAAGTCTATGAGTTG -3'

Sequencing Primer
(F):5'- CAGCTGTGGAAGTAAGCTCTG -3'
(R):5'- TCACTCTGTAGACCAGACTGG -3'

Posted On

2018-11-28