Mutagenetix > Incidental Mutation

Incidental Mutation 'R4864:Srp72'

374739

Institutional Source

Beutler Lab

Gene Symbol

Srp72

Ensembl Gene

ENSMUSG00000036323

Gene Name

signal recognition particle 72

Synonyms

5730576P14Rik, 72kDa

MMRRC Submission

042474-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.951) question?

Stock #

R4864 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77122548-77147782 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 77132009 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 229 (H229Q)

Ref Sequence

ENSEMBL: ENSMUSP00000098648 (fasta)

Gene Model

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

AlphaFold

F8VQC1

Predicted Effect

probably benign
Transcript: ENSMUST00000101087
AA Change: H229Q

PolyPhen 2 Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000098648
Gene: ENSMUSG00000036323
AA Change: H229Q

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

SMART Domains

Protein: ENSMUSP00000113312
Gene: ENSMUSG00000036323

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141873

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148423

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150661

Meta Mutation Damage Score

0.0845

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

99% (93/94)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	C	T	14: 64,210,658 (GRCm39)	R190H	probably benign	Het
Acp6	T	C	3: 97,066,683 (GRCm39)		probably null	Het
Adora3	T	A	3: 105,815,131 (GRCm39)	Y148N	probably damaging	Het
Ahnak2	G	A	12: 112,740,040 (GRCm39)	S538L	probably damaging	Het
Aox3	T	G	1: 58,215,646 (GRCm39)	V1026G	probably damaging	Het
Ap3d1	TTCTCTCTCTCTCTCTCT	TTCTCTCTCTCTCTCT	10: 80,548,612 (GRCm39)		probably null	Het
Arhgef37	G	A	18: 61,627,996 (GRCm39)	A649V	probably benign	Het
Atp5f1a	G	A	18: 77,869,015 (GRCm39)	R413H	possibly damaging	Het
Bace1	A	T	9: 45,766,109 (GRCm39)	I179F	probably damaging	Het
Brinp1	A	G	4: 68,717,123 (GRCm39)	F242L	probably damaging	Het
Brk1	T	C	6: 113,592,805 (GRCm39)	Y63H	possibly damaging	Het
Ccdc74a	A	G	16: 17,466,736 (GRCm39)	T148A	probably benign	Het
Cenpc1	T	A	5: 86,193,180 (GRCm39)	L236F	probably damaging	Het
Col13a1	C	T	10: 61,698,439 (GRCm39)	E541K	unknown	Het
Copg1	T	A	6: 87,866,678 (GRCm39)	C44S	probably damaging	Het
D130043K22Rik	A	G	13: 25,047,595 (GRCm39)	E380G	probably damaging	Het
Dchs1	T	C	7: 105,404,460 (GRCm39)	D2694G	probably damaging	Het
Dgkd	A	T	1: 87,844,560 (GRCm39)	N242I	possibly damaging	Het
Dnah2	C	T	11: 69,313,416 (GRCm39)	V4248I	probably damaging	Het
Dpy19l3	T	A	7: 35,411,607 (GRCm39)	K376*	probably null	Het
Eef1d	A	G	15: 75,775,255 (GRCm39)	S135P	possibly damaging	Het
Epc2	T	A	2: 49,427,177 (GRCm39)	S574T	probably benign	Het
Eps15	G	A	4: 109,223,727 (GRCm39)		probably benign	Het
Eps8	T	C	6: 137,455,967 (GRCm39)		probably benign	Het
Exoc5	A	T	14: 49,289,839 (GRCm39)	V13E	probably benign	Het
Fbn1	A	T	2: 125,214,317 (GRCm39)	C765S	possibly damaging	Het
Fbxo5	A	T	10: 5,752,392 (GRCm39)	C74S	probably benign	Het
Fbxw9	T	C	8: 85,792,530 (GRCm39)	S322P	probably damaging	Het
Fmo5	T	A	3: 97,553,195 (GRCm39)	I381N	probably damaging	Het
Fmo6	T	C	1: 162,751,964 (GRCm39)	D175G	probably benign	Het
Gm7361	A	G	5: 26,467,008 (GRCm39)		probably null	Het
Gm9961	G	A	16: 11,720,899 (GRCm39)		probably benign	Het
Golga7b	T	A	19: 42,255,405 (GRCm39)		probably null	Het
Gorab	T	C	1: 163,213,967 (GRCm39)	E321G	probably benign	Het
Gpx1	T	A	9: 108,216,594 (GRCm39)	V28E	probably benign	Het
H2-T15	T	A	17: 36,369,253 (GRCm39)		probably benign	Het
H3c14	T	C	3: 96,154,575 (GRCm39)	I125T	probably damaging	Het
Hk1	T	C	10: 62,178,318 (GRCm39)	S8G	probably benign	Het
Iqsec1	C	T	6: 90,641,038 (GRCm39)	R1026H	probably damaging	Het
Kdm4b	A	T	17: 56,660,091 (GRCm39)	Y86F	probably benign	Het
Kprp	C	T	3: 92,731,829 (GRCm39)	R407Q	unknown	Het
Lamb1	C	T	12: 31,371,005 (GRCm39)	T1400M	probably benign	Het
Lcor	G	T	19: 41,573,803 (GRCm39)	A853S	probably benign	Het
Lrriq3	T	A	3: 154,893,447 (GRCm39)	Y383N	possibly damaging	Het
Map3k21	T	C	8: 126,654,294 (GRCm39)	I371T	probably benign	Het
Mllt1	A	T	17: 57,212,819 (GRCm39)	F105I	probably damaging	Het
Nfatc2	A	G	2: 168,378,312 (GRCm39)	M451T	probably damaging	Het
Nfkbiz	A	C	16: 55,638,787 (GRCm39)	N224K	probably damaging	Het
Nlrp4d	A	G	7: 10,115,088 (GRCm39)	V531A	noncoding transcript	Het
Noc3l	A	G	19: 38,778,081 (GRCm39)	Y778H	probably benign	Het
Nup98	C	A	7: 101,802,403 (GRCm39)	A734S	possibly damaging	Het
Or2ag18	T	C	7: 106,405,171 (GRCm39)	Y166C	probably damaging	Het
Or4k2	T	A	14: 50,424,039 (GRCm39)	I212F	probably damaging	Het
Or9g20	A	G	2: 85,630,033 (GRCm39)	Y194H	probably damaging	Het
Or9r7	T	A	10: 129,962,756 (GRCm39)	R57*	probably null	Het
Pate4	A	T	9: 35,519,535 (GRCm39)	C52S	probably damaging	Het
Pecr	C	A	1: 72,316,490 (GRCm39)	A72S	probably benign	Het
Pomt1	A	G	2: 32,142,004 (GRCm39)	N578S	probably benign	Het
Ppm1a	T	C	12: 72,830,738 (GRCm39)	S88P	probably benign	Het
Ppm1l	T	A	3: 69,449,844 (GRCm39)		probably benign	Het
Prdm13	A	G	4: 21,685,543 (GRCm39)	S86P	unknown	Het
Prph2	T	C	17: 47,221,848 (GRCm39)	S76P	probably benign	Het
Sarnp	G	A	10: 128,669,212 (GRCm39)	R23H	probably damaging	Het
Septin1	T	C	7: 126,816,064 (GRCm39)		probably benign	Het
Serpini1	T	C	3: 75,520,481 (GRCm39)	I26T	probably benign	Het
Setdb2	A	G	14: 59,646,715 (GRCm39)	I616T	probably benign	Het
Slc2a10	T	C	2: 165,356,541 (GRCm39)	F67S	probably benign	Het
Slc38a6	T	A	12: 73,390,424 (GRCm39)		probably null	Het
Smg6	T	C	11: 74,820,988 (GRCm39)	S420P	possibly damaging	Het
Ston2	A	G	12: 91,615,448 (GRCm39)	V320A	possibly damaging	Het
Stx3	A	T	19: 11,754,515 (GRCm39)	I269N	possibly damaging	Het
Tdg-ps	A	G	15: 82,400,843 (GRCm39)		noncoding transcript	Het
Tecpr1	T	A	5: 144,150,935 (GRCm39)	N291I	probably benign	Het
Tmem177	A	G	1: 119,838,553 (GRCm39)	V42A	probably benign	Het
Trim26	T	A	17: 37,168,886 (GRCm39)		probably benign	Het
Ttc17	A	G	2: 94,196,980 (GRCm39)	S456P	probably benign	Het
Tubgcp6	T	C	15: 88,988,021 (GRCm39)	Y984C	probably benign	Het
Unc5cl	A	G	17: 48,766,872 (GRCm39)	E82G	possibly damaging	Het
Uncx	T	C	5: 139,529,875 (GRCm39)	S43P	probably damaging	Het
Vmn1r1	A	G	1: 181,985,332 (GRCm39)	V111A	probably benign	Het
Vmn1r168	A	G	7: 23,240,907 (GRCm39)	I255V	probably damaging	Het
Vwce	A	G	19: 10,628,000 (GRCm39)	T487A	probably benign	Het
Xaf1	A	G	11: 72,197,682 (GRCm39)		probably benign	Het
Zfp27	G	T	7: 29,594,261 (GRCm39)	P568Q	probably damaging	Het
Zfp382	A	T	7: 29,832,885 (GRCm39)	I179F	possibly 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
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
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'- CCATACCCAGTTCTCTACAGTGG -3'
(R):5'- TGTTATTTGCGATTACAGCGAG -3'

Sequencing Primer
(F):5'- GTGGCAATTCTCAAAACTGAGTCTC -3'
(R):5'- CACATCTGTTGGCCTGTGAACAAG -3'

Posted On

2016-03-17