Incidental Mutation 'IGL03033:Rtp3'
ID 408530
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rtp3
Ensembl Gene ENSMUSG00000066319
Gene Name receptor transporter protein 3
Synonyms Tmem7
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # IGL03033
Quality Score
Status
Chromosome 9
Chromosomal Location 110814003-110818781 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to T at 110815162 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143100 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035076] [ENSMUST00000084922] [ENSMUST00000198702] [ENSMUST00000199891]
AlphaFold Q5QGU6
Predicted Effect probably benign
Transcript: ENSMUST00000035076
SMART Domains Protein: ENSMUSP00000035076
Gene: ENSMUSG00000032495

DomainStartEndE-ValueType
Blast:LRR 143 165 5e-7 BLAST
LRR_TYP 166 189 4.87e-4 SMART
LRR 236 258 1.41e1 SMART
LRR 259 282 2.27e1 SMART
Predicted Effect unknown
Transcript: ENSMUST00000084922
AA Change: I401N
SMART Domains Protein: ENSMUSP00000081985
Gene: ENSMUSG00000066319
AA Change: I401N

DomainStartEndE-ValueType
zf-3CxxC 52 164 2.13e-52 SMART
low complexity region 356 404 N/A INTRINSIC
low complexity region 458 474 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185439
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197321
Predicted Effect probably benign
Transcript: ENSMUST00000198702
SMART Domains Protein: ENSMUSP00000143100
Gene: ENSMUSG00000066319

DomainStartEndE-ValueType
Pfam:zf-3CxxC 52 81 2.5e-6 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000199891
AA Change: I401N
SMART Domains Protein: ENSMUSP00000143305
Gene: ENSMUSG00000066319
AA Change: I401N

DomainStartEndE-ValueType
zf-3CxxC 52 164 2.13e-52 SMART
low complexity region 356 404 N/A INTRINSIC
low complexity region 458 474 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aoc1l2 A T 6: 48,909,452 (GRCm39) T566S probably benign Het
Ap3b1 A G 13: 94,585,003 (GRCm39) T405A probably benign Het
Bicd2 G T 13: 49,533,396 (GRCm39) V587L probably benign Het
Bsn A T 9: 107,993,192 (GRCm39) D853E probably damaging Het
Cacna1i C A 15: 80,246,440 (GRCm39) N611K probably damaging Het
Capn11 A G 17: 45,953,473 (GRCm39) L227P probably damaging Het
Copb2 A G 9: 98,452,426 (GRCm39) N70S probably benign Het
Ddb1 T C 19: 10,603,290 (GRCm39) V866A possibly damaging Het
Dst A G 1: 34,208,826 (GRCm39) probably benign Het
Ero1b A G 13: 12,596,551 (GRCm39) Y117C probably damaging Het
Esyt1 T G 10: 128,352,252 (GRCm39) R758S probably benign Het
Gm20441 A G 10: 75,607,326 (GRCm39) F55S probably damaging Het
Gm20547 A T 17: 35,078,492 (GRCm39) M362K probably damaging Het
Gucy1b2 A G 14: 62,653,393 (GRCm39) V334A probably benign Het
Hnrnph3 A T 10: 62,853,958 (GRCm39) F53L probably benign Het
Kcnk18 C T 19: 59,223,616 (GRCm39) P254S probably benign Het
Lrfn5 T A 12: 61,886,833 (GRCm39) L207Q probably damaging Het
Lrp3 T C 7: 34,902,052 (GRCm39) M589V possibly damaging Het
Nlrp1b A G 11: 71,052,665 (GRCm39) V918A probably benign Het
Nsg2 A G 11: 31,951,836 (GRCm39) T29A probably damaging Het
Or51b4 T A 7: 103,530,724 (GRCm39) H242L probably damaging Het
Pank4 C T 4: 155,059,172 (GRCm39) T435I probably damaging Het
Prom1 C T 5: 44,163,502 (GRCm39) probably null Het
Prr14 G T 7: 127,071,135 (GRCm39) L3F probably damaging Het
Rfx7 A T 9: 72,440,271 (GRCm39) probably benign Het
Rhbdl3 A G 11: 80,237,653 (GRCm39) N295S probably damaging Het
Ripk3 A G 14: 56,024,622 (GRCm39) probably benign Het
Ror1 A T 4: 100,269,092 (GRCm39) N310I possibly damaging Het
Rpl23a T C 11: 78,072,408 (GRCm39) Y74C possibly damaging Het
Sbno1 A T 5: 124,514,213 (GRCm39) N1326K probably damaging Het
Sepsecs T C 5: 52,818,018 (GRCm39) N253S probably damaging Het
Setd2 A C 9: 110,380,343 (GRCm39) E1386A possibly damaging Het
Sf3b3 T C 8: 111,537,596 (GRCm39) I1211V possibly damaging Het
Sh3tc2 G A 18: 62,107,549 (GRCm39) V187M possibly damaging Het
Slc30a6 G T 17: 74,716,373 (GRCm39) E136* probably null Het
Sptan1 T A 2: 29,881,045 (GRCm39) V438E probably damaging Het
Stab2 A G 10: 86,832,667 (GRCm39) probably null Het
Sult2a1 T A 7: 13,566,635 (GRCm39) probably benign Het
Tmem198 A G 1: 75,459,612 (GRCm39) D189G possibly damaging Het
Tnfrsf8 C A 4: 145,019,219 (GRCm39) L205F possibly damaging Het
Vmn1r68 T A 7: 10,262,074 (GRCm39) E8V probably damaging Het
Wnk3 G A X: 150,059,924 (GRCm39) D742N probably damaging Het
Xpc A T 6: 91,468,297 (GRCm39) probably null Het
Zfp113 A T 5: 138,149,458 (GRCm39) probably benign Het
Zfp120 A T 2: 149,961,794 (GRCm39) D51E probably benign Het
Zfp473 C T 7: 44,382,522 (GRCm39) V603M probably benign Het
Other mutations in Rtp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00329:Rtp3 APN 9 110,815,666 (GRCm39) missense probably benign 0.03
IGL02212:Rtp3 APN 9 110,816,389 (GRCm39) splice site probably benign
R0392:Rtp3 UTSW 9 110,818,621 (GRCm39) missense probably damaging 0.98
R0529:Rtp3 UTSW 9 110,816,152 (GRCm39) missense possibly damaging 0.93
R0645:Rtp3 UTSW 9 110,816,168 (GRCm39) missense probably damaging 0.97
R1282:Rtp3 UTSW 9 110,815,988 (GRCm39) missense probably benign 0.01
R1609:Rtp3 UTSW 9 110,815,085 (GRCm39) unclassified probably benign
R1649:Rtp3 UTSW 9 110,815,772 (GRCm39) missense probably benign 0.00
R1662:Rtp3 UTSW 9 110,815,751 (GRCm39) missense probably benign 0.23
R2011:Rtp3 UTSW 9 110,815,102 (GRCm39) unclassified probably benign
R3697:Rtp3 UTSW 9 110,816,262 (GRCm39) missense possibly damaging 0.86
R4661:Rtp3 UTSW 9 110,815,519 (GRCm39) splice site probably null
R4707:Rtp3 UTSW 9 110,815,279 (GRCm39) unclassified probably benign
R4764:Rtp3 UTSW 9 110,816,418 (GRCm39) intron probably benign
R4796:Rtp3 UTSW 9 110,815,522 (GRCm39) missense probably benign 0.00
R4839:Rtp3 UTSW 9 110,818,544 (GRCm39) missense probably damaging 1.00
R5262:Rtp3 UTSW 9 110,815,195 (GRCm39) unclassified probably benign
R5886:Rtp3 UTSW 9 110,816,204 (GRCm39) missense probably damaging 1.00
R5932:Rtp3 UTSW 9 110,815,760 (GRCm39) missense probably benign 0.04
R6089:Rtp3 UTSW 9 110,816,041 (GRCm39) missense probably benign 0.00
R6545:Rtp3 UTSW 9 110,815,894 (GRCm39) missense possibly damaging 0.83
R6812:Rtp3 UTSW 9 110,816,180 (GRCm39) missense probably benign 0.14
R6895:Rtp3 UTSW 9 110,816,264 (GRCm39) missense possibly damaging 0.72
R7023:Rtp3 UTSW 9 110,815,714 (GRCm39) missense probably benign 0.00
R7113:Rtp3 UTSW 9 110,815,767 (GRCm39) missense probably damaging 0.98
R7167:Rtp3 UTSW 9 110,815,772 (GRCm39) missense probably benign 0.01
R7171:Rtp3 UTSW 9 110,815,009 (GRCm39) missense unknown
R7359:Rtp3 UTSW 9 110,815,364 (GRCm39) missense probably benign 0.33
R7721:Rtp3 UTSW 9 110,814,948 (GRCm39) nonsense probably null
R9402:Rtp3 UTSW 9 110,815,031 (GRCm39) missense unknown
R9600:Rtp3 UTSW 9 110,815,198 (GRCm39) missense unknown
R9623:Rtp3 UTSW 9 110,818,600 (GRCm39) missense probably damaging 1.00
R9648:Rtp3 UTSW 9 110,815,586 (GRCm39) missense probably benign 0.00
Posted On 2016-08-02