Incidental Mutation 'R5747:Rp9'
ID 445822
Institutional Source Beutler Lab
Gene Symbol Rp9
Ensembl Gene ENSMUSG00000032239
Gene Name retinitis pigmentosa 9 (human)
Synonyms Rp9h, PAP-1
MMRRC Submission 043354-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5747 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 22359607-22379652 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to G at 22359960 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000150271 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034763] [ENSMUST00000058868] [ENSMUST00000215715] [ENSMUST00000216973]
AlphaFold P97762
Predicted Effect unknown
Transcript: ENSMUST00000034763
AA Change: S212P
SMART Domains Protein: ENSMUSP00000034763
Gene: ENSMUSG00000032239
AA Change: S212P

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: ENSMUST00000058868
SMART Domains Protein: ENSMUSP00000062120
Gene: ENSMUSG00000036411

DomainStartEndE-ValueType
low complexity region 79 100 N/A INTRINSIC
DUF1704 202 511 1.28e-137 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213133
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213598
Predicted Effect probably benign
Transcript: ENSMUST00000215715
Predicted Effect unknown
Transcript: ENSMUST00000216973
AA Change: S127P
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217370
Meta Mutation Damage Score 0.1346 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 100% (54/54)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 A T 1: 25,865,643 (GRCm39) Y67N probably damaging Het
Akap8l T C 17: 32,564,352 (GRCm39) T12A probably damaging Het
Anapc1 A G 2: 128,466,836 (GRCm39) V1620A probably benign Het
Ank2 A G 3: 126,735,400 (GRCm39) probably benign Het
Ankrd34c C T 9: 89,611,814 (GRCm39) V176M possibly damaging Het
Arhgap39 C T 15: 76,625,735 (GRCm39) D190N possibly damaging Het
Cbl A G 9: 44,112,416 (GRCm39) L93P probably damaging Het
Crebl2 C T 6: 134,828,103 (GRCm39) L92F probably damaging Het
Dclre1a A G 19: 56,529,964 (GRCm39) V791A probably damaging Het
Dzip1l T A 9: 99,521,862 (GRCm39) probably null Het
Echs1 T C 7: 139,691,725 (GRCm39) probably benign Het
Eif1ad16 C T 12: 87,985,366 (GRCm39) C59Y possibly damaging Het
Epha4 A G 1: 77,483,520 (GRCm39) I163T probably damaging Het
Fdft1 A G 14: 63,384,288 (GRCm39) S388P probably damaging Het
Gbx2 A G 1: 89,856,437 (GRCm39) S318P probably damaging Het
Gkn1 T A 6: 87,323,319 (GRCm39) T165S probably benign Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Gm10801 G C 2: 98,494,352 (GRCm39) R143T possibly damaging Het
Gm5093 T G 17: 46,750,916 (GRCm39) E37A possibly damaging Het
Gm527 A T 12: 64,967,620 (GRCm39) N14I probably damaging Het
Gnaz C T 10: 74,827,235 (GRCm39) probably benign Het
Grik2 T C 10: 49,399,870 (GRCm39) T287A probably benign Het
Gtf2h4 T C 17: 35,981,273 (GRCm39) Y220C possibly damaging Het
Igkv8-28 T C 6: 70,121,141 (GRCm39) E2G probably benign Het
Itgbl1 T A 14: 124,209,576 (GRCm39) Y318* probably null Het
Kcnh5 T C 12: 74,945,194 (GRCm39) E685G probably benign Het
Kctd18 A T 1: 58,001,183 (GRCm39) probably benign Het
Ldhal6b A C 17: 5,468,094 (GRCm39) V280G probably damaging Het
Ldhd T C 8: 112,355,703 (GRCm39) T182A probably damaging Het
Lman2l T C 1: 36,464,038 (GRCm39) D272G possibly damaging Het
Lrrc63 T C 14: 75,363,904 (GRCm39) T76A probably benign Het
Map3k3 A G 11: 106,041,236 (GRCm39) T402A probably benign Het
Mdga1 C T 17: 30,069,525 (GRCm39) D174N probably benign Het
Mob4 A G 1: 55,187,737 (GRCm39) M68V probably damaging Het
Or1j15 A T 2: 36,458,979 (GRCm39) Y123F probably damaging Het
Rassf8 A G 6: 145,761,541 (GRCm39) E289G probably benign Het
Rnf17 T C 14: 56,703,276 (GRCm39) probably null Het
Rrm2b T C 15: 37,927,634 (GRCm39) Q92R probably benign Het
Sema6d C T 2: 124,506,867 (GRCm39) P879S probably damaging Het
Slc27a2 T A 2: 126,406,658 (GRCm39) M114K probably benign Het
Slc4a5 T A 6: 83,248,011 (GRCm39) Y521N probably damaging Het
Slc6a4 A T 11: 76,901,337 (GRCm39) N24I probably damaging Het
Spata13 T A 14: 60,984,952 (GRCm39) D815E probably benign Het
Spocd1 A G 4: 129,848,738 (GRCm39) D656G probably damaging Het
Susd1 T A 4: 59,424,108 (GRCm39) N39I probably damaging Het
Vps13d G A 4: 144,894,853 (GRCm39) T417I probably benign Het
Wdr31 C T 4: 62,381,637 (GRCm39) V65I probably damaging Het
Zfp783 T C 6: 47,925,829 (GRCm39) probably benign 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
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
R9250:Rp9 UTSW 9 22,365,086 (GRCm39) nonsense probably null
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'- CACAGACACGGTGACCATAAGG -3'
(R):5'- CAGTGCTGCCTGATGAAGTG -3'

Sequencing Primer
(F):5'- CCATAAGGTAGAGGACACAGGTG -3'
(R):5'- CTGTCTAGGATCCAGCAGTTAAAGC -3'
Posted On 2016-11-21