Incidental Mutation 'R9398:Rp9'
ID 710952
Institutional Source Beutler Lab
Gene Symbol Rp9
Ensembl Gene ENSMUSG00000032239
Gene Name retinitis pigmentosa 9 (human)
Synonyms Rp9h, PAP-1
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9398 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 22359607-22379652 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 22360082 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Stop codon at position 171 (S171*)
Ref Sequence ENSEMBL: ENSMUSP00000034763 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034763] [ENSMUST00000058868] [ENSMUST00000215715] [ENSMUST00000216973]
AlphaFold P97762
Predicted Effect probably null
Transcript: ENSMUST00000034763
AA Change: S171*
SMART Domains Protein: ENSMUSP00000034763
Gene: ENSMUSG00000032239
AA Change: S171*

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 probably benign
Transcript: ENSMUST00000215715
Predicted Effect probably null
Transcript: ENSMUST00000216973
AA Change: S86*
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvrl1 A T 15: 101,034,924 (GRCm39) K228* probably null Het
Adrb2 T C 18: 62,312,276 (GRCm39) D183G probably benign Het
Ap1m2 A G 9: 21,216,935 (GRCm39) Y134H probably damaging Het
Arid5a A G 1: 36,358,073 (GRCm39) T217A probably benign Het
Cdnf C T 2: 3,522,075 (GRCm39) T89I possibly damaging Het
Cntnap3 G A 13: 65,051,648 (GRCm39) R3W probably benign Het
Col6a6 A G 9: 105,651,825 (GRCm39) I1062T probably benign Het
Ctss T C 3: 95,454,258 (GRCm39) F270S possibly damaging Het
Ddhd1 C T 14: 45,895,117 (GRCm39) G118R possibly damaging Het
Ddx11 A G 17: 66,436,912 (GRCm39) K69E probably benign Het
Dgkb G A 12: 38,189,657 (GRCm39) G328D probably damaging Het
Dock1 C T 7: 134,774,228 (GRCm39) T1852M probably damaging Het
Gm19410 T C 8: 36,272,356 (GRCm39) Y1346H probably benign Het
Gprin1 G T 13: 54,887,383 (GRCm39) T297N probably damaging Het
Gramd1c A G 16: 43,833,381 (GRCm39) F187S probably damaging Het
Gse1 A G 8: 121,303,074 (GRCm39) N1072D unknown Het
Gtf3c6 G A 10: 40,133,520 (GRCm39) probably benign Het
Hipk3 T A 2: 104,263,562 (GRCm39) T897S probably benign Het
Igsf21 T A 4: 139,973,762 (GRCm39) probably benign Het
Itgb1 A G 8: 129,452,605 (GRCm39) I757V probably damaging Het
Lamb2 C T 9: 108,364,366 (GRCm39) R1102W possibly damaging Het
Lzts2 T G 19: 45,013,208 (GRCm39) C374W unknown Het
Mapk10 A T 5: 103,061,152 (GRCm39) S462T probably damaging Het
Mtcl1 A T 17: 66,755,462 (GRCm39) D293E possibly damaging Het
Nf1 T G 11: 79,438,018 (GRCm39) H109Q probably damaging Het
Nlrp9b T C 7: 19,783,435 (GRCm39) L926P probably damaging Het
Notch2 G A 3: 98,009,668 (GRCm39) D532N probably damaging Het
Olfm4 A T 14: 80,249,249 (GRCm39) Y122F probably benign Het
Or52e19b T A 7: 103,032,487 (GRCm39) T241S probably damaging Het
Or52r1 A G 7: 102,537,000 (GRCm39) M120T probably damaging Het
Or56a4 A T 7: 104,806,006 (GRCm39) Y294* probably null Het
Or5g24-ps1 T C 2: 85,464,367 (GRCm39) V198A probably benign Het
Or5p76 T C 7: 108,123,035 (GRCm39) T41A probably damaging Het
Or5t18 A G 2: 86,637,160 (GRCm39) L61P possibly damaging Het
P2rx2 A T 5: 110,488,138 (GRCm39) M472K probably benign Het
Pbxip1 A G 3: 89,354,941 (GRCm39) K487E probably benign Het
Plxnb2 A G 15: 89,045,122 (GRCm39) V1108A probably benign Het
Polq A G 16: 36,881,394 (GRCm39) N1186S probably benign Het
Por T A 5: 135,754,597 (GRCm39) W6R unknown Het
Prex2 G A 1: 11,207,028 (GRCm39) V529I probably benign Het
Rgs6 T G 12: 82,698,615 (GRCm39) S5A probably benign Het
Sec11c T A 18: 65,942,568 (GRCm39) I47N possibly damaging Het
Sh2b1 GCCACGGGGACCAGCTC GCCACGGGGACCAGCTCATCCACGGGGACCAGCTC 7: 126,066,756 (GRCm39) probably benign Het
Sh2b1 TGGGGACCAGCTCAGCCACGGGGACCAGCTC TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC 7: 126,066,742 (GRCm39) probably benign Het
Sh2b1 GACCAGCTCAGCCACGGG GACCAGCTCAGCCACGGGTACCAGCTCAGCCACGGG 7: 126,066,746 (GRCm39) probably benign Het
Slco1a8 A G 6: 141,940,511 (GRCm39) S137P possibly damaging Het
Sorcs1 A G 19: 50,213,651 (GRCm39) M692T possibly damaging Het
Sult1d1 T A 5: 87,713,954 (GRCm39) Q30L probably benign Het
Tcea2 A G 2: 181,322,243 (GRCm39) D15G probably damaging Het
Tep1 T C 14: 51,066,429 (GRCm39) S2344G possibly damaging Het
Ttc6 T A 12: 57,784,404 (GRCm39) Y1824* probably null Het
Ubqln5 T C 7: 103,777,985 (GRCm39) T280A probably benign Het
Ush1c T C 7: 45,869,934 (GRCm39) R342G probably benign Het
Vmn1r185 T A 7: 26,311,056 (GRCm39) I150F probably benign Het
Vmn1r43 G A 6: 89,846,877 (GRCm39) T203M probably damaging Het
Vmn1r86 A G 7: 12,836,261 (GRCm39) M205T probably damaging Het
Vps13d A T 4: 144,896,956 (GRCm39) Y321* probably null 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
R9250:Rp9 UTSW 9 22,365,086 (GRCm39) nonsense probably null
R9273:Rp9 UTSW 9 22,379,573 (GRCm39) intron probably benign
Predicted Primers PCR Primer
(F):5'- GTGCTAGATGTCCAGTCTCTCAC -3'
(R):5'- TGCACTCCTGTCAACAGTG -3'

Sequencing Primer
(F):5'- AGATGTCCAGTCTCTCACTCTCGG -3'
(R):5'- ACTCCTGTCAACAGTGCGGATG -3'
Posted On 2022-04-18