Incidental Mutation 'R8201:Rcan3'
ID 635669
Institutional Source Beutler Lab
Gene Symbol Rcan3
Ensembl Gene ENSMUSG00000059713
Gene Name regulator of calcineurin 3
Synonyms Csp3, Dscr1l2
MMRRC Submission 067624-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R8201 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 135139619-135161154 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 135147684 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 81 (F81S)
Ref Sequence ENSEMBL: ENSMUSP00000030606 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030606] [ENSMUST00000132654] [ENSMUST00000156635]
AlphaFold Q9JKK0
Predicted Effect probably damaging
Transcript: ENSMUST00000030606
AA Change: F81S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030606
Gene: ENSMUSG00000059713
AA Change: F81S

DomainStartEndE-ValueType
low complexity region 22 33 N/A INTRINSIC
Pfam:Calcipressin 56 226 9e-67 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000132654
AA Change: F34S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114220
Gene: ENSMUSG00000059713
AA Change: F34S

DomainStartEndE-ValueType
Pfam:Calcipressin 9 135 1.1e-53 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000156635
AA Change: F81S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118447
Gene: ENSMUSG00000059713
AA Change: F81S

DomainStartEndE-ValueType
low complexity region 22 33 N/A INTRINSIC
Pfam:Calcipressin 56 159 1.6e-40 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik T C 3: 124,195,046 (GRCm39) E543G probably benign Het
2210408I21Rik T A 13: 77,341,278 (GRCm39) N302K possibly damaging Het
Apbb2 T C 5: 66,466,458 (GRCm39) N609S probably benign Het
Atp10a G T 7: 58,469,424 (GRCm39) G1092* probably null Het
Ccdc150 A G 1: 54,368,646 (GRCm39) N618S probably benign Het
Cct4 T A 11: 22,949,115 (GRCm39) V287E probably damaging Het
Cyp2j7 A T 4: 96,083,564 (GRCm39) I462N probably damaging Het
Dnajc6 C T 4: 101,475,960 (GRCm39) A611V probably benign Het
Dusp10 C A 1: 183,769,202 (GRCm39) A56E possibly damaging Het
Entrep3 T C 3: 89,093,115 (GRCm39) V291A probably damaging Het
Fat3 A C 9: 15,908,773 (GRCm39) C2410G possibly damaging Het
Fcgrt T A 7: 44,744,634 (GRCm39) Q274L possibly damaging Het
Fdxacb1 G T 9: 50,681,455 (GRCm39) probably benign Het
Fubp1 T A 3: 151,927,823 (GRCm39) I424N probably damaging Het
Gm5114 T A 7: 39,060,373 (GRCm39) T159S probably damaging Het
Gm7168 T C 17: 14,170,042 (GRCm39) C470R probably benign Het
Hebp1 A G 6: 135,114,906 (GRCm39) V185A possibly damaging Het
Il18rap G T 1: 40,578,429 (GRCm39) R280I possibly damaging Het
Mamdc4 T C 2: 25,456,093 (GRCm39) N771S probably damaging Het
Ndufaf4 A G 4: 24,898,197 (GRCm39) N11D possibly damaging Het
Nkiras1 T C 14: 18,276,908 (GRCm38) probably benign Het
Noct T C 3: 51,155,444 (GRCm39) S135P probably benign Het
Or1e23 T A 11: 73,407,899 (GRCm39) N42I probably damaging Het
Or2t48 A T 11: 58,419,865 (GRCm39) *316R noncoding transcript Het
Or2w3b A C 11: 58,623,940 (GRCm39) F17C probably damaging Het
Or7e177 G T 9: 20,212,317 (GRCm39) G271C probably damaging Het
Or7e178 T C 9: 20,225,908 (GRCm39) M103V probably benign Het
Pcdhac1 A T 18: 37,223,892 (GRCm39) H235L probably benign Het
Pcdhb22 G T 18: 37,651,518 (GRCm39) probably benign Het
Pdlim1 A T 19: 40,218,958 (GRCm39) D224E probably benign Het
Plpp3 G T 4: 105,076,555 (GRCm39) G223W probably damaging Het
Sel1l2 A C 2: 140,108,312 (GRCm39) Y191D probably damaging Het
Supt16 A G 14: 52,408,447 (GRCm39) F833L probably damaging Het
Tchh T C 3: 93,350,781 (GRCm39) F74L probably damaging Het
Tgfbr3 T C 5: 107,278,431 (GRCm39) D725G probably benign Het
Tmem14c C T 13: 41,171,186 (GRCm39) P10S probably benign Het
Ubb G A 11: 62,443,053 (GRCm39) A28T probably benign Het
Vars2 A T 17: 35,969,202 (GRCm39) V833E probably benign Het
Zfyve9 T C 4: 108,507,474 (GRCm39) D528G possibly damaging Het
Other mutations in Rcan3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02574:Rcan3 APN 4 135,152,706 (GRCm39) missense probably benign 0.05
R0016:Rcan3 UTSW 4 135,145,689 (GRCm39) critical splice donor site probably null
R0412:Rcan3 UTSW 4 135,143,914 (GRCm39) splice site probably null
R1531:Rcan3 UTSW 4 135,152,595 (GRCm39) missense probably damaging 0.98
R1938:Rcan3 UTSW 4 135,139,812 (GRCm39) splice site probably null
R2229:Rcan3 UTSW 4 135,152,688 (GRCm39) missense probably benign 0.30
R5159:Rcan3 UTSW 4 135,152,592 (GRCm39) missense probably damaging 0.99
R5973:Rcan3 UTSW 4 135,145,853 (GRCm39) missense probably benign 0.00
R7070:Rcan3 UTSW 4 135,143,898 (GRCm39) missense probably damaging 1.00
R7649:Rcan3 UTSW 4 135,139,799 (GRCm39) missense probably benign 0.12
R9189:Rcan3 UTSW 4 135,152,607 (GRCm39) missense probably benign 0.03
R9723:Rcan3 UTSW 4 135,152,680 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CAAGAACAGAGGCTCAATGTGC -3'
(R):5'- ACTCTGAACACCAGTGAGAAAG -3'

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