Incidental Mutation 'R5514:Prr5'
ID 440263
Institutional Source Beutler Lab
Gene Symbol Prr5
Ensembl Gene ENSMUSG00000036106
Gene Name proline rich 5 (renal)
Synonyms Protor-1, C030017C09Rik
MMRRC Submission 043074-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.106) question?
Stock # R5514 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 84553821-84587874 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 84587096 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 282 (P282Q)
Ref Sequence ENSEMBL: ENSMUSP00000127890 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065499] [ENSMUST00000171460]
AlphaFold Q812A5
Predicted Effect probably benign
Transcript: ENSMUST00000065499
AA Change: P291Q

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000066396
Gene: ENSMUSG00000036106
AA Change: P291Q

DomainStartEndE-ValueType
Pfam:HbrB 38 144 6.9e-17 PFAM
low complexity region 333 344 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000171460
AA Change: P282Q

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000127890
Gene: ENSMUSG00000036106
AA Change: P282Q

DomainStartEndE-ValueType
Pfam:HbrB 27 159 1.3e-36 PFAM
low complexity region 324 335 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with a proline-rich domain. This gene is located in a region of chromosome 22 reported to contain a tumor suppressor gene that may be involved in breast and colorectal tumorigenesis. The protein is a component of the mammalian target of rapamycin complex 2 (mTORC2), and it regulates platelet-derived growth factor (PDGF) receptor beta expression and PDGF signaling to Akt and S6K1. Alternative splicing and the use of alternative promoters results in transcripts encoding different isoforms. Read-through transcripts from this gene into the downstream Rho GTPase activating protein 8 (ARHGAP8) gene also exist, which led to the original description of PRR5 and ARHGAP8 being a single gene. [provided by RefSeq, Nov 2010]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam17 T C 12: 21,390,520 (GRCm39) S382G probably damaging Het
Agr2 G A 12: 36,046,090 (GRCm39) V74I probably benign Het
Aldh3a1 T C 11: 61,108,867 (GRCm39) S423P probably damaging Het
Ampd1 C T 3: 102,986,488 (GRCm39) H56Y possibly damaging Het
Arhgef2 C A 3: 88,550,304 (GRCm39) P670T probably benign Het
Blk T G 14: 63,615,930 (GRCm39) D333A probably damaging Het
Bmi1 T C 2: 18,686,714 (GRCm39) I31T probably damaging Het
Cacna1d G A 14: 30,072,790 (GRCm39) Q62* probably null Het
Ccdc88c A G 12: 100,879,698 (GRCm39) S1801P probably damaging Het
Cdkal1 C T 13: 29,961,270 (GRCm39) A100T probably damaging Het
Cfap251 G T 5: 123,425,829 (GRCm39) probably null Het
Chst4 G T 8: 110,756,606 (GRCm39) S419Y probably damaging Het
Cntn4 T C 6: 106,649,844 (GRCm39) I680T probably damaging Het
Ddx55 T C 5: 124,694,875 (GRCm39) V101A probably damaging Het
Ddx60 A T 8: 62,411,091 (GRCm39) E451V probably damaging Het
Dffa T A 4: 149,190,772 (GRCm39) probably null Het
Dgkd A G 1: 87,861,832 (GRCm39) R796G probably damaging Het
Dzank1 T A 2: 144,323,605 (GRCm39) M614L probably benign Het
Elf2 G T 3: 51,215,555 (GRCm39) Q52K probably damaging Het
Fcamr T A 1: 130,741,793 (GRCm39) L522Q probably damaging Het
Fscn2 T C 11: 120,258,858 (GRCm39) Y468H probably damaging Het
Gm12689 T C 4: 99,184,402 (GRCm39) I85T unknown Het
Gm4787 A G 12: 81,425,102 (GRCm39) V352A possibly damaging Het
Gtsf1 T C 15: 103,336,802 (GRCm39) Q13R probably benign Het
Itpkb G A 1: 180,241,474 (GRCm39) V715M probably damaging Het
Jmjd1c T A 10: 67,053,928 (GRCm39) S263T probably damaging Het
Krba1 T G 6: 48,390,429 (GRCm39) L736R probably damaging Het
Lrrc8d C G 5: 105,960,650 (GRCm39) F353L probably damaging Het
Lrrc8d G A 5: 105,960,651 (GRCm39) E354K probably benign Het
Mtor T A 4: 148,630,901 (GRCm39) V2286E probably damaging Het
Mybbp1a T A 11: 72,341,462 (GRCm39) V1100E possibly damaging Het
Myo5a G A 9: 75,061,048 (GRCm39) G518D probably damaging Het
Nalcn A T 14: 123,521,123 (GRCm39) I1594N probably benign Het
Nav1 C G 1: 135,398,299 (GRCm39) G761A probably benign Het
Ncoa2 A T 1: 13,251,445 (GRCm39) L276H probably damaging Het
Ndufaf7 T C 17: 79,245,051 (GRCm39) Y57H probably damaging Het
Nfkb2 A G 19: 46,299,847 (GRCm39) Y807C probably damaging Het
Nid2 A T 14: 19,852,535 (GRCm39) Q1081L probably damaging Het
Nkain2 T A 10: 31,827,189 (GRCm39) I134F probably damaging Het
Nmu A C 5: 76,497,979 (GRCm39) S69A probably damaging Het
Or4c15b A T 2: 89,112,817 (GRCm39) I220N probably damaging Het
Or5t7 T C 2: 86,507,225 (GRCm39) I151V probably benign Het
Pard3 A G 8: 128,153,086 (GRCm39) R886G probably damaging Het
Pde6b G T 5: 108,571,317 (GRCm39) Q423H probably benign Het
Pip5k1b A T 19: 24,327,505 (GRCm39) D450E probably damaging Het
Plcg1 T C 2: 160,595,275 (GRCm39) probably null Het
Pnpt1 T C 11: 29,103,246 (GRCm39) S504P possibly damaging Het
Pomt2 A T 12: 87,175,797 (GRCm39) D312E probably damaging Het
Ppp1r1b T C 11: 98,246,228 (GRCm39) L70P probably damaging Het
Reln A T 5: 22,176,883 (GRCm39) W1928R possibly damaging Het
Sacm1l A T 9: 123,415,419 (GRCm39) R465* probably null Het
Sema7a A G 9: 57,863,046 (GRCm39) Y239C probably damaging Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Svep1 T C 4: 58,044,054 (GRCm39) T3531A possibly damaging Het
Tjp1 A T 7: 65,004,609 (GRCm39) W19R probably damaging Het
Tmc2 T A 2: 130,083,564 (GRCm39) M507K possibly damaging Het
Unc13a A G 8: 72,095,795 (GRCm39) Y1241H probably damaging Het
Upp1 C T 11: 9,081,771 (GRCm39) P103S probably damaging Het
Vldlr A G 19: 27,221,624 (GRCm39) E663G probably damaging Het
Vmn2r68 G A 7: 84,886,767 (GRCm39) T49I possibly damaging Het
Xirp2 A T 2: 67,335,465 (GRCm39) M95L probably benign Het
Other mutations in Prr5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01023:Prr5 APN 15 84,583,856 (GRCm39) missense possibly damaging 0.47
IGL01790:Prr5 APN 15 84,651,415 (GRCm39) missense possibly damaging 0.87
IGL01950:Prr5 APN 15 84,650,550 (GRCm39) missense probably benign 0.33
IGL02156:Prr5 APN 15 84,654,236 (GRCm39) missense possibly damaging 0.87
IGL02656:Prr5 APN 15 84,583,337 (GRCm39) missense probably damaging 1.00
IGL03102:Prr5 APN 15 84,650,508 (GRCm39) splice site probably benign
R0234:Prr5 UTSW 15 84,587,322 (GRCm39) missense probably damaging 1.00
R0234:Prr5 UTSW 15 84,587,322 (GRCm39) missense probably damaging 1.00
R0389:Prr5 UTSW 15 84,587,152 (GRCm39) missense probably benign 0.00
R0514:Prr5 UTSW 15 84,586,967 (GRCm39) missense probably benign 0.19
R1414:Prr5 UTSW 15 84,583,912 (GRCm39) nonsense probably null
R2027:Prr5 UTSW 15 84,585,580 (GRCm39) missense probably damaging 0.99
R2230:Prr5 UTSW 15 84,586,981 (GRCm39) missense probably benign 0.15
R2231:Prr5 UTSW 15 84,586,981 (GRCm39) missense probably benign 0.15
R2232:Prr5 UTSW 15 84,586,981 (GRCm39) missense probably benign 0.15
R3003:Prr5 UTSW 15 84,656,031 (GRCm39) missense probably damaging 0.99
R3498:Prr5 UTSW 15 84,587,345 (GRCm39) missense probably benign 0.12
R3791:Prr5 UTSW 15 84,565,417 (GRCm39) missense probably damaging 1.00
R3910:Prr5 UTSW 15 84,587,345 (GRCm39) missense probably benign 0.12
R4562:Prr5 UTSW 15 84,626,114 (GRCm39) missense probably damaging 0.99
R4866:Prr5 UTSW 15 84,626,105 (GRCm39) missense probably damaging 1.00
R4867:Prr5 UTSW 15 84,624,967 (GRCm39) missense probably benign 0.17
R5620:Prr5 UTSW 15 84,640,570 (GRCm39) missense probably benign 0.09
R5793:Prr5 UTSW 15 84,656,223 (GRCm39) missense probably benign
R5905:Prr5 UTSW 15 84,626,178 (GRCm39) missense possibly damaging 0.53
R5911:Prr5 UTSW 15 84,585,635 (GRCm39) nonsense probably null
R6033:Prr5 UTSW 15 84,626,126 (GRCm39) missense probably damaging 1.00
R6033:Prr5 UTSW 15 84,626,126 (GRCm39) missense probably damaging 1.00
R6085:Prr5 UTSW 15 84,572,106 (GRCm39) missense probably damaging 1.00
R6187:Prr5 UTSW 15 84,577,973 (GRCm39) missense probably damaging 1.00
R6394:Prr5 UTSW 15 84,583,925 (GRCm39) missense probably damaging 0.99
R6422:Prr5 UTSW 15 84,578,005 (GRCm39) missense probably damaging 1.00
R6631:Prr5 UTSW 15 84,586,978 (GRCm39) missense probably damaging 0.99
R7212:Prr5 UTSW 15 84,629,993 (GRCm39) missense probably null 0.99
R7548:Prr5 UTSW 15 84,641,259 (GRCm39) missense possibly damaging 0.76
R7614:Prr5 UTSW 15 84,641,276 (GRCm39) missense probably benign 0.44
R7822:Prr5 UTSW 15 84,649,933 (GRCm39) missense probably damaging 1.00
R8113:Prr5 UTSW 15 84,577,993 (GRCm39) missense probably damaging 1.00
R8268:Prr5 UTSW 15 84,587,192 (GRCm39) missense probably benign 0.02
R8328:Prr5 UTSW 15 84,587,387 (GRCm39) makesense probably null
R8488:Prr5 UTSW 15 84,578,005 (GRCm39) missense probably damaging 1.00
R8874:Prr5 UTSW 15 84,583,916 (GRCm39) missense probably damaging 1.00
R9058:Prr5 UTSW 15 84,641,241 (GRCm39) missense probably benign 0.00
R9317:Prr5 UTSW 15 84,583,324 (GRCm39) nonsense probably null
R9456:Prr5 UTSW 15 84,585,682 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GCACCCACCATCTTAGTGTATG -3'
(R):5'- GGATCTGGTCCACAAGAGTC -3'

Sequencing Primer
(F):5'- TCTGTTCCTGCAGAGAAACG -3'
(R):5'- ATCTGGTCCACAAGAGTCTCTGG -3'
Posted On 2016-11-08