Incidental Mutation 'R0318:Srp72'
ID 25495
Institutional Source Beutler Lab
Gene Symbol Srp72
Ensembl Gene ENSMUSG00000036323
Gene Name signal recognition particle 72
Synonyms 5730576P14Rik, 72kDa
MMRRC Submission 038528-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.947) question?
Stock # R0318 (G1)
Quality Score 224
Status Not validated
Chromosome 5
Chromosomal Location 77122548-77147782 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 77132047 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 242 (T242I)
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: T242I

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000098648
Gene: ENSMUSG00000036323
AA Change: T242I

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 0.0928 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 94.4%
  • 20x: 86.5%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130401M01Rik A T 15: 57,892,370 (GRCm39) L79Q probably damaging Het
Add1 T C 5: 34,782,684 (GRCm39) V130A probably damaging Het
Ankrd23 G T 1: 36,573,153 (GRCm39) T73K probably benign Het
Blk A G 14: 63,611,646 (GRCm39) Y430H probably damaging Het
C3 C T 17: 57,531,709 (GRCm39) V272M probably damaging Het
Cerk C T 15: 86,035,766 (GRCm39) A254T possibly damaging Het
Ces2a G A 8: 105,467,456 (GRCm39) A494T probably damaging Het
Cfap46 T C 7: 139,234,482 (GRCm39) Y258C probably damaging Het
Chaf1a C T 17: 56,369,227 (GRCm39) T486I possibly damaging Het
Colec12 A G 18: 9,848,446 (GRCm39) N208S possibly damaging Het
Coro7 T A 16: 4,493,671 (GRCm39) H63L probably benign Het
Cps1 T A 1: 67,216,173 (GRCm39) W833R probably damaging Het
Csmd3 A T 15: 47,522,549 (GRCm39) W2707R probably damaging Het
Dbn1 C T 13: 55,622,729 (GRCm39) E585K probably damaging Het
Ddx50 A T 10: 62,478,616 (GRCm39) I190K probably damaging Het
Dnmt3l G A 10: 77,890,889 (GRCm39) V264M probably damaging Het
Dnpep A G 1: 75,293,270 (GRCm39) V33A probably damaging Het
Fam163a A G 1: 155,955,715 (GRCm39) C26R probably damaging Het
Fam83h A G 15: 75,875,478 (GRCm39) S620P probably benign Het
Fcna A G 2: 25,515,071 (GRCm39) S263P probably benign Het
Fnip2 A T 3: 79,419,685 (GRCm39) S165R probably damaging Het
Fpr-rs3 T C 17: 20,844,410 (GRCm39) T244A probably benign Het
Gpr152 T C 19: 4,193,541 (GRCm39) S361P possibly damaging Het
Grm5 A T 7: 87,252,175 (GRCm39) I142L probably damaging Het
Gucy2g A G 19: 55,226,230 (GRCm39) S229P probably benign Het
Htr7 C T 19: 35,946,886 (GRCm39) G376D probably damaging Het
Irgc T C 7: 24,131,896 (GRCm39) D307G probably benign Het
Irs1 A T 1: 82,266,381 (GRCm39) S612T probably benign Het
Maml2 C T 9: 13,531,890 (GRCm39) T368I probably damaging Het
Mapkapk2 A G 1: 131,025,072 (GRCm39) V64A probably damaging Het
Marf1 C T 16: 13,960,398 (GRCm39) A549T probably damaging Het
Nptx1 C T 11: 119,433,367 (GRCm39) E411K probably damaging Het
Or2z8 C T 8: 72,812,244 (GRCm39) T240M probably damaging Het
Or5ak25 C A 2: 85,268,581 (GRCm39) R307M possibly damaging Het
Pcgf5 A T 19: 36,389,590 (GRCm39) K22N possibly damaging Het
Psmd9 C A 5: 123,372,712 (GRCm39) A65E possibly damaging Het
Sh3bp1 A G 15: 78,795,907 (GRCm39) T679A probably damaging Het
Sipa1l2 G A 8: 126,174,436 (GRCm39) P1281S possibly damaging Het
Slc17a3 C T 13: 24,039,841 (GRCm39) S293F probably damaging Het
Slc25a24 A G 3: 109,064,316 (GRCm39) M222V probably benign Het
Smg9 T C 7: 24,120,313 (GRCm39) F429S possibly damaging Het
Snapc1 C T 12: 74,021,806 (GRCm39) R81C probably damaging Het
Sorl1 T A 9: 41,993,250 (GRCm39) Y258F probably damaging Het
Stc1 A T 14: 69,275,867 (GRCm39) Q220L probably damaging Het
Tas2r122 T C 6: 132,688,795 (GRCm39) T33A possibly damaging Het
Tbc1d10b A G 7: 126,798,206 (GRCm39) L645P probably damaging Het
Thoc2l T C 5: 104,665,619 (GRCm39) F47S probably benign Het
Timd4 T A 11: 46,727,898 (GRCm39) H272Q probably benign Het
Ttll5 T G 12: 85,923,368 (GRCm39) probably null Het
Veph1 G T 3: 65,964,680 (GRCm39) S783Y probably damaging Het
Vmn1r230 T C 17: 21,067,078 (GRCm39) L89S possibly damaging Het
Xcr1 A G 9: 123,685,219 (GRCm39) V165A possibly damaging Het
Zfp286 T C 11: 62,675,788 (GRCm39) D58G probably damaging Het
Zfyve26 C T 12: 79,323,055 (GRCm39) R897H probably damaging Het
Other mutations in Srp72
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- TGGCAATTCTCAAAACTGAGTCTCAGG -3'
(R):5'- GGCACCCTCCAAAAGTTTAGCCTC -3'

Sequencing Primer
(F):5'- GGAAGATTCCTGAAGTTACATGAG -3'
(R):5'- CTGGGATAATGACGTTCTCAGC -3'
Posted On 2013-04-16