Mutagenetix > Incidental Mutation

Incidental Mutation 'R7674:Srp72'

592362

Institutional Source

Beutler Lab

Gene Symbol

Srp72

Ensembl Gene

ENSMUSG00000036323

Gene Name

signal recognition particle 72

Synonyms

5730576P14Rik, 72kDa

MMRRC Submission

045744-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.947) question?

Stock #

R7674 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77122548-77147782 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 77122673 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 35 (N35Y)

Ref Sequence

ENSEMBL: ENSMUSP00000098648 (fasta)

Gene Model

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

AlphaFold

F8VQC1

Predicted Effect

probably damaging
Transcript: ENSMUST00000101087
AA Change: N35Y

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000098648
Gene: ENSMUSG00000036323
AA Change: N35Y

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 damaging
Transcript: ENSMUST00000120550
AA Change: N35Y

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113312
Gene: ENSMUSG00000036323
AA Change: N35Y

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

Meta Mutation Damage Score

0.3063

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (58/58)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	A	11: 110,110,123 (GRCm39)	I607F	probably damaging	Het
Abcc4	A	T	14: 118,848,899 (GRCm39)	D559E	probably damaging	Het
Abl1	T	C	2: 31,579,841 (GRCm39)	V8A	possibly damaging	Het
Alkal1	A	T	1: 6,459,712 (GRCm39)	Y96F	probably damaging	Het
Asb3	T	A	11: 31,031,435 (GRCm39)	C352S	possibly damaging	Het
B4galnt3	G	T	6: 120,192,166 (GRCm39)	D523E	probably benign	Het
Cadps	C	A	14: 12,411,581 (GRCm38)	E1258D	probably damaging	Het
Carmil2	A	T	8: 106,423,918 (GRCm39)	Q1257L	possibly damaging	Het
Cars1	A	G	7: 143,140,840 (GRCm39)		probably null	Het
Ccdc88c	G	T	12: 100,911,491 (GRCm39)	A781E	probably benign	Het
Ccr10	A	T	11: 101,065,475 (GRCm39)	D18E	probably benign	Het
Cdcp1	C	A	9: 123,045,071 (GRCm39)		probably benign	Het
Ces5a	C	A	8: 94,240,897 (GRCm39)	R400L	probably damaging	Het
Clcn6	C	T	4: 148,097,151 (GRCm39)	V636M	probably damaging	Het
Cluh	T	A	11: 74,558,546 (GRCm39)	L1206H	probably damaging	Het
Cog2	C	A	8: 125,264,621 (GRCm39)	N333K	probably damaging	Het
Dnah14	A	T	1: 181,535,098 (GRCm39)	I2355L	probably benign	Het
Dok4	T	C	8: 95,593,190 (GRCm39)	Y165C	probably damaging	Het
Dpy19l3	A	C	7: 35,394,734 (GRCm39)	D601E	probably damaging	Het
Egr3	G	A	14: 70,315,526 (GRCm39)		probably null	Het
Elapor1	T	G	3: 108,370,307 (GRCm39)	R698S	probably damaging	Het
Elp1	T	C	4: 56,792,075 (GRCm39)	Q231R	probably damaging	Het
Evpl	T	C	11: 116,113,394 (GRCm39)	K1432R	probably benign	Het
Fbxw8	A	T	5: 118,263,036 (GRCm39)	C214*	probably null	Het
Gm45861	A	C	8: 28,030,147 (GRCm39)	Y821S	unknown	Het
Gm5519	G	C	19: 33,802,428 (GRCm39)	G157A	probably benign	Het
Gys1	T	C	7: 45,104,495 (GRCm39)	S641P	probably damaging	Het
Ighv6-6	T	A	12: 114,398,837 (GRCm39)	I10L	probably benign	Het
Jmy	C	T	13: 93,579,107 (GRCm39)	R675Q	probably damaging	Het
Kif14	C	T	1: 136,396,558 (GRCm39)	T288I	probably damaging	Het
Kpna3	A	T	14: 61,605,086 (GRCm39)	N520K	probably benign	Het
Lonp2	A	T	8: 87,392,386 (GRCm39)	Q484L	probably benign	Het
Lrp1b	T	A	2: 42,542,921 (GRCm39)		probably benign	Het
Mpeg1	A	T	19: 12,438,751 (GRCm39)	M70L	probably benign	Het
Msh3	C	A	13: 92,349,011 (GRCm39)	V1074L	probably benign	Het
Muc6	A	T	7: 141,224,247 (GRCm39)	L1645Q	unknown	Het
Nipbl	C	T	15: 8,322,585 (GRCm39)	V2609I	probably benign	Het
Nucks1	C	A	1: 131,858,844 (GRCm39)	T202N	probably benign	Het
Or10al3	A	G	17: 38,011,573 (GRCm39)	N4S	probably benign	Het
Or4c127	A	T	2: 89,833,389 (GRCm39)	Y213F	probably damaging	Het
Or4e2	A	G	14: 52,687,899 (GRCm39)	T10A	probably benign	Het
Or5m12	A	C	2: 85,734,880 (GRCm39)	F173V	probably damaging	Het
Or8b12i	A	G	9: 20,082,549 (GRCm39)	L106P	possibly damaging	Het
Plekha2	A	G	8: 25,547,314 (GRCm39)	S257P	probably damaging	Het
Pnlip	G	C	19: 58,663,586 (GRCm39)	G187A	possibly damaging	Het
Pramel22	T	A	4: 143,382,175 (GRCm39)	K174*	probably null	Het
Rasgrf2	C	T	13: 92,267,914 (GRCm39)	S30N	possibly damaging	Het
Rho	G	T	6: 115,909,294 (GRCm39)	C110F	probably damaging	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Slc2a12	A	G	10: 22,569,893 (GRCm39)	D528G	probably damaging	Het
Sorcs2	G	A	5: 36,555,296 (GRCm39)	R32C	probably damaging	Het
Sp110	G	A	1: 85,506,813 (GRCm39)	R417C	probably benign	Het
Tm2d2	C	A	8: 25,508,280 (GRCm39)	Y141*	probably null	Het
Tor3a	G	A	1: 156,483,478 (GRCm39)	H315Y	possibly damaging	Het
Usp17la	A	T	7: 104,510,654 (GRCm39)	K420*	probably null	Het
Vmn2r26	T	C	6: 124,016,321 (GRCm39)	W262R	probably benign	Het
Yipf7	A	T	5: 69,676,572 (GRCm39)	V189D	probably damaging	Het
Zan	T	A	5: 137,465,370 (GRCm39)	M462L	possibly damaging	Het
Zc3h18	AGG	AG	8: 123,110,295 (GRCm39)		probably null	Het
Zfp930	A	T	8: 69,681,337 (GRCm39)	H344L	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
R6986:Srp72	UTSW	5	77,142,723 (GRCm39)	missense	probably benign	0.16
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'- ACTTCGAGATCCTCTTCCGG -3'
(R):5'- ACGCCATGGTCTCTTTAAGTC -3'

Sequencing Primer
(F):5'- ATCCTCTTCCGGGGCAGAG -3'
(R):5'- AGTACACGTGGCCTTAAGC -3'

Posted On

2019-11-12