Incidental Mutation 'R9250:Rp9'
ID 701491
Institutional Source Beutler Lab
Gene Symbol Rp9
Ensembl Gene ENSMUSG00000032239
Gene Name retinitis pigmentosa 9 (human)
Synonyms Rp9h, PAP-1
MMRRC Submission 068989-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9250 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 22359607-22379652 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 22365086 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 124 (Q124*)
Ref Sequence ENSEMBL: ENSMUSP00000034763 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034763] [ENSMUST00000168332] [ENSMUST00000215715] [ENSMUST00000216973]
AlphaFold P97762
Predicted Effect probably null
Transcript: ENSMUST00000034763
AA Change: Q124*
SMART Domains Protein: ENSMUSP00000034763
Gene: ENSMUSG00000032239
AA Change: Q124*

DomainStartEndE-ValueType
low complexity region 19 28 N/A INTRINSIC
ZnF_C2HC 96 114 5.17e0 SMART
low complexity region 161 213 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000168332
Predicted Effect probably null
Transcript: ENSMUST00000215715
AA Change: Q124*
Predicted Effect probably null
Transcript: ENSMUST00000216973
AA Change: Q39*
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.0%
Validation Efficiency 98% (55/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene can be bound and phosphorylated by the protooncogene PIM1 product, a serine/threonine protein kinase . This protein localizes in nuclear speckles containing the splicing factors, and has a role in pre-mRNA splicing. CBF1-interacting protein (CIR), a corepressor of CBF1, can also bind to this protein and effects alternative splicing. Mutations in this gene result in autosomal dominant retinitis pigmentosa-9. This gene has a pseudogene (GeneID: 441212), which is located in tandem array approximately 166 kb distal to this gene. [provided by RefSeq, Sep 2009]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik C G 3: 137,772,389 (GRCm39) A526G probably damaging Het
AAdacl4fm3 A T 4: 144,442,011 (GRCm39) I80K probably benign Het
Ablim3 A G 18: 61,944,501 (GRCm39) L526P probably damaging Het
Aknad1 T C 3: 108,664,143 (GRCm39) S369P probably damaging Het
Aldh8a1 T C 10: 21,258,259 (GRCm39) S119P probably damaging Het
Brpf3 T C 17: 29,054,788 (GRCm39) I1110T probably damaging Het
Cdk12 T C 11: 98,101,398 (GRCm39) S419P probably benign Het
Cmklr1 G C 5: 113,752,043 (GRCm39) H319Q probably benign Het
Crim1 C T 17: 78,677,471 (GRCm39) H891Y probably benign Het
Dapp1 T C 3: 137,638,919 (GRCm39) E269G probably benign Het
Ddt T C 10: 75,609,063 (GRCm39) D32G probably benign Het
Dlg5 T C 14: 24,240,543 (GRCm39) D236G probably benign Het
Edem1 C A 6: 108,805,850 (GRCm39) D50E probably benign Het
Exoc5 A T 14: 49,256,915 (GRCm39) N490K probably damaging Het
Fam117a C A 11: 95,228,071 (GRCm39) D60E possibly damaging Het
Fam186a A G 15: 99,845,330 (GRCm39) S305P unknown Het
Fbxw21 A G 9: 108,972,846 (GRCm39) F363L probably benign Het
Fhl2 A G 1: 43,167,422 (GRCm39) C224R probably damaging Het
Gad1 T A 2: 70,409,543 (GRCm39) N211K probably damaging Het
Igdcc4 A G 9: 65,038,932 (GRCm39) T906A possibly damaging Het
Igkv3-5 T C 6: 70,640,758 (GRCm39) S80P probably benign Het
Igkv4-90 C A 6: 68,784,331 (GRCm39) G62* probably null Het
Il31ra A T 13: 112,669,508 (GRCm39) Y386N probably damaging Het
Kif13a G T 13: 46,928,909 (GRCm39) H1159N probably damaging Het
Kmt2a G A 9: 44,759,683 (GRCm39) S722F possibly damaging Het
Mipep T C 14: 61,028,358 (GRCm39) Y157H probably damaging Het
Mipol1 A G 12: 57,461,169 (GRCm39) E293G probably damaging Het
Mmp7 A T 9: 7,697,885 (GRCm39) probably benign Het
Mr1 A G 1: 155,013,325 (GRCm39) L84P probably damaging Het
Neb A G 2: 52,168,913 (GRCm39) V1874A possibly damaging Het
Nefm T C 14: 68,358,570 (GRCm39) probably benign Het
Nek1 T C 8: 61,465,151 (GRCm39) M80T probably damaging Het
Nubp2 A G 17: 25,103,373 (GRCm39) probably null Het
Or10ab4 C T 7: 107,655,014 (GRCm39) T275M probably damaging Het
Or5w11 T C 2: 87,459,278 (GRCm39) I41T probably benign Het
Or8b101 T A 9: 38,020,718 (GRCm39) C240* probably null Het
Ovch2 C A 7: 107,392,542 (GRCm39) R267L probably damaging Het
Pole A G 5: 110,447,687 (GRCm39) E741G possibly damaging Het
Ptprh T A 7: 4,576,289 (GRCm39) T324S probably benign Het
Pxk T A 14: 8,144,123 (GRCm38) H290Q probably damaging Het
Rab11fip3 G T 17: 26,237,219 (GRCm39) T5N unknown Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,121 (GRCm39) probably benign Het
Runx2 A G 17: 45,125,459 (GRCm39) L19P probably benign Het
Sf1 C T 19: 6,424,764 (GRCm39) P473L unknown Het
Slc9a2 C T 1: 40,806,987 (GRCm39) T758I probably benign Het
Spef1l C A 7: 139,556,395 (GRCm39) K197N probably benign Het
Tas2r105 T G 6: 131,663,951 (GRCm39) H159P probably benign Het
Tas2r120 T A 6: 132,633,954 (GRCm39) M12K probably benign Het
Thoc2l A G 5: 104,667,320 (GRCm39) Y614C probably benign Het
Trpv4 T C 5: 114,764,941 (GRCm39) Y691C probably damaging Het
Unc93a A G 17: 13,334,488 (GRCm39) V337A probably benign Het
Usp17le T G 7: 104,418,839 (GRCm39) Q101P probably damaging Het
Usp3 A T 9: 66,449,793 (GRCm39) probably null Het
Zfp445 T C 9: 122,681,092 (GRCm39) S950G possibly damaging Het
Zfp644 T G 5: 106,784,699 (GRCm39) D616A probably damaging Het
Zfp759 T G 13: 67,288,461 (GRCm39) C671G probably damaging Het
Zgrf1 G T 3: 127,379,797 (GRCm39) C1111F probably damaging Het
Zmym2 T A 14: 57,148,732 (GRCm39) S349T probably damaging Het
Other mutations in Rp9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03210:Rp9 APN 9 22,368,724 (GRCm39) missense probably benign 0.40
R0512:Rp9 UTSW 9 22,370,015 (GRCm39) missense probably benign 0.00
R1157:Rp9 UTSW 9 22,370,036 (GRCm39) missense probably damaging 1.00
R1500:Rp9 UTSW 9 22,368,751 (GRCm39) missense probably damaging 1.00
R1677:Rp9 UTSW 9 22,365,097 (GRCm39) missense probably damaging 0.99
R2135:Rp9 UTSW 9 22,379,425 (GRCm39) missense possibly damaging 0.68
R3944:Rp9 UTSW 9 22,361,154 (GRCm39) missense probably damaging 1.00
R5747:Rp9 UTSW 9 22,359,960 (GRCm39) intron probably benign
R5853:Rp9 UTSW 9 22,360,065 (GRCm39) intron probably benign
R6342:Rp9 UTSW 9 22,361,154 (GRCm39) missense probably damaging 1.00
R8075:Rp9 UTSW 9 22,368,788 (GRCm39) missense probably damaging 0.96
R9273:Rp9 UTSW 9 22,379,573 (GRCm39) intron probably benign
R9398:Rp9 UTSW 9 22,360,082 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGCTTGTTATCTGTCACACAATGC -3'
(R):5'- GCAGTTAGTTGACCCTCATTGC -3'

Sequencing Primer
(F):5'- TCTGTCACACAATGCATACAGGTG -3'
(R):5'- GCTTTCTGGGACCTTCACGG -3'
Posted On 2022-03-25