Incidental Mutation 'R8184:Rtca'
ID 634761
Institutional Source Beutler Lab
Gene Symbol Rtca
Ensembl Gene ENSMUSG00000000339
Gene Name RNA 3'-terminal phosphate cyclase
Synonyms Rtcd1, 2310009A18Rik
MMRRC Submission 067607-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.149) question?
Stock # R8184 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 116282612-116301852 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 116301473 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 25 (A25S)
Ref Sequence ENSEMBL: ENSMUSP00000000348 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000348] [ENSMUST00000140677] [ENSMUST00000143425] [ENSMUST00000153005]
AlphaFold Q9D7H3
Predicted Effect probably benign
Transcript: ENSMUST00000000348
AA Change: A25S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000000348
Gene: ENSMUSG00000000339
AA Change: A25S

DomainStartEndE-ValueType
Pfam:RTC 12 338 4.3e-89 PFAM
Pfam:RTC_insert 185 287 4.5e-23 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000140677
AA Change: A25S

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000117610
Gene: ENSMUSG00000000339
AA Change: A25S

DomainStartEndE-ValueType
Pfam:RTC 8 51 3.2e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143425
AA Change: A25S

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000121357
Gene: ENSMUSG00000000339
AA Change: A25S

DomainStartEndE-ValueType
Pfam:RTC 8 102 9.8e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153005
SMART Domains Protein: ENSMUSP00000119463
Gene: ENSMUSG00000000339

DomainStartEndE-ValueType
Pfam:RTC 1 133 1.1e-27 PFAM
Pfam:RTC_insert 78 142 2e-14 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the RNA 3'-phosphate cyclase family. The encoded protein plays a role in RNA metabolism by catalyzing the ATP-dependent conversion of the 3'-phosphate of RNA substrates to a 2',3'-cyclic phosphodiester. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]
PHENOTYPE: Mice homozygous for a hypomorphic allele exhibit incomplete prenatal lethality and enhanced retinal ganglion cell axon regeneration after optic nerve crush injury. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accsl T C 2: 93,686,086 (GRCm39) K577R probably benign Het
Baiap3 A G 17: 25,467,499 (GRCm39) S368P probably benign Het
Brf2 T C 8: 27,614,013 (GRCm39) E391G possibly damaging Het
Casr T A 16: 36,330,108 (GRCm39) M409L probably benign Het
Ccdc83 G T 7: 89,873,286 (GRCm39) Y356* probably null Het
Clec10a A T 11: 70,060,642 (GRCm39) N166Y probably damaging Het
Copg1 T C 6: 87,866,996 (GRCm39) F77S probably damaging Het
Dnah7a T G 1: 53,666,194 (GRCm39) K611T probably benign Het
Dock10 G A 1: 80,530,469 (GRCm39) H1025Y probably damaging Het
Dock6 A T 9: 21,741,596 (GRCm39) S876T possibly damaging Het
Dop1b G T 16: 93,573,881 (GRCm39) R1701L probably benign Het
Dus4l A G 12: 31,690,817 (GRCm39) F278S probably damaging Het
Fbxo43 C T 15: 36,162,485 (GRCm39) V241I possibly damaging Het
Gbx2 A T 1: 89,856,550 (GRCm39) I280N probably damaging Het
Gnai1 A G 5: 18,496,504 (GRCm39) F140L Het
Gne T C 4: 44,084,061 (GRCm39) Y13C probably benign Het
Heatr5b A T 17: 79,121,662 (GRCm39) S688T probably benign Het
Hectd2 T A 19: 36,581,754 (GRCm39) D431E possibly damaging Het
Hecw2 A G 1: 54,079,546 (GRCm39) S36P probably benign Het
Hpx A T 7: 105,241,352 (GRCm39) I353N probably damaging Het
Ints8 A T 4: 11,204,534 (GRCm39) V974E probably damaging Het
Jaml T A 9: 45,000,110 (GRCm39) L136Q probably damaging Het
Kazn A G 4: 141,845,441 (GRCm39) V381A probably benign Het
Krt79 T C 15: 101,838,187 (GRCm39) T523A unknown Het
Lrrc8e T G 8: 4,285,140 (GRCm39) L455R probably damaging Het
Mrps11 T C 7: 78,433,125 (GRCm39) S7P possibly damaging Het
Muc21 A G 17: 35,933,722 (GRCm39) S155P unknown Het
Neurl3 A G 1: 36,308,662 (GRCm39) F50S probably damaging Het
Nlgn1 T C 3: 25,490,363 (GRCm39) T455A probably damaging Het
Pbp2 T C 6: 135,287,260 (GRCm39) Y29C probably damaging Het
Pdcd11 T A 19: 47,101,791 (GRCm39) L992* probably null Het
Pla2g6 A G 15: 79,171,322 (GRCm39) I756T probably benign Het
Polm T A 11: 5,781,707 (GRCm39) D263V possibly damaging Het
Pspc1 T C 14: 57,001,700 (GRCm39) T225A probably benign Het
Sirt2 G A 7: 28,487,191 (GRCm39) V318M probably damaging Het
Slc1a2 T A 2: 102,568,197 (GRCm39) I78K probably damaging Het
Slco3a1 A G 7: 74,009,577 (GRCm39) I246T probably benign Het
Smpd5 A G 15: 76,179,926 (GRCm39) E325G probably benign Het
Snw1 T C 12: 87,500,673 (GRCm39) E362G probably benign Het
Tmem63c A T 12: 87,108,328 (GRCm39) M114L possibly damaging Het
Trim24 T C 6: 37,848,242 (GRCm39) L66P probably damaging Het
Trpm3 T C 19: 22,896,060 (GRCm39) F966L possibly damaging Het
Ttn T C 2: 76,609,643 (GRCm39) I17588V probably benign Het
Vmn2r44 A T 7: 8,371,227 (GRCm39) C606* probably null Het
Vmn2r74 A T 7: 85,601,454 (GRCm39) V728E probably benign Het
Zfp503 T C 14: 22,036,019 (GRCm39) D299G possibly damaging Het
Zfp764l1 C T 7: 126,992,496 (GRCm39) C38Y probably null Het
Other mutations in Rtca
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00228:Rtca APN 3 116,298,110 (GRCm39) missense probably damaging 0.96
IGL02793:Rtca APN 3 116,286,726 (GRCm39) missense probably damaging 1.00
IGL03028:Rtca APN 3 116,286,741 (GRCm39) unclassified probably benign
R1749:Rtca UTSW 3 116,291,293 (GRCm39) missense possibly damaging 0.83
R1858:Rtca UTSW 3 116,287,764 (GRCm39) missense probably benign 0.30
R2127:Rtca UTSW 3 116,291,323 (GRCm39) missense possibly damaging 0.85
R3083:Rtca UTSW 3 116,301,674 (GRCm39) start gained probably benign
R3750:Rtca UTSW 3 116,286,650 (GRCm39) missense probably benign 0.02
R5493:Rtca UTSW 3 116,293,280 (GRCm39) missense probably benign
R5502:Rtca UTSW 3 116,282,931 (GRCm39) nonsense probably null
R5889:Rtca UTSW 3 116,293,232 (GRCm39) missense possibly damaging 0.87
R6151:Rtca UTSW 3 116,301,476 (GRCm39) missense probably benign 0.04
R6763:Rtca UTSW 3 116,301,398 (GRCm39) critical splice donor site probably null
R8710:Rtca UTSW 3 116,291,303 (GRCm39) missense probably benign 0.02
R9180:Rtca UTSW 3 116,282,905 (GRCm39) missense probably benign 0.17
R9502:Rtca UTSW 3 116,301,413 (GRCm39) missense probably benign 0.03
R9685:Rtca UTSW 3 116,293,225 (GRCm39) missense probably benign 0.19
Z1176:Rtca UTSW 3 116,282,952 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AAGGCCGCACTCTTAATTGC -3'
(R):5'- TTCCACAGCAACAGTTTCCCG -3'

Sequencing Primer
(F):5'- ACTCTTAATTGCCGCCCGGG -3'
(R):5'- AAGCGCACTATCAGGCCTG -3'
Posted On 2020-07-13