Incidental Mutation 'R5039:Ark2c'
ID 395731
Institutional Source Beutler Lab
Gene Symbol Ark2c
Ensembl Gene ENSMUSG00000025427
Gene Name arkadia (RNF111) C-terminal like ring finger ubiquitin ligase 2C
Synonyms Rnf165, G630064H08Rik, 2900024M11Rik, Ark2c, LOC225743
MMRRC Submission 042629-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # R5039 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 77543806-77652832 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 77550608 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 107 (S107P)
Ref Sequence ENSEMBL: ENSMUSP00000138494 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026494] [ENSMUST00000182024]
AlphaFold E9QAU8
Predicted Effect probably damaging
Transcript: ENSMUST00000026494
AA Change: S300P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000026494
Gene: ENSMUSG00000025427
AA Change: S300P

DomainStartEndE-ValueType
low complexity region 99 121 N/A INTRINSIC
RING 295 335 1.4e-8 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000182024
AA Change: S107P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000138494
Gene: ENSMUSG00000025427
AA Change: S107P

DomainStartEndE-ValueType
RING 102 142 1.4e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000182153
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182805
Meta Mutation Damage Score 0.2615 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency 100% (61/61)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Encoded in regions involved in pericentric inversions in patients with bipolar affective disorder. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit partial neonatal lethality followed by complete postnatal lethality, growth retardation, abnormal joint mobility, cyanosis, abnormal motor neuron innervation pattern and abnormal phrenic nerve innervation pattern to diaphragm. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 G A 9: 44,192,863 (GRCm39) A161V probably damaging Het
Anapc2 T C 2: 25,164,808 (GRCm39) I64T possibly damaging Het
Arfgef1 T C 1: 10,269,961 (GRCm39) D396G probably benign Het
Axl C T 7: 25,485,340 (GRCm39) V163M probably damaging Het
Blm G A 7: 80,155,621 (GRCm39) P353S possibly damaging Het
Btaf1 T C 19: 36,968,162 (GRCm39) Y1116H probably benign Het
Ccdc18 T A 5: 108,306,514 (GRCm39) probably null Het
Ccdc87 T C 19: 4,890,429 (GRCm39) probably null Het
Cdhr1 T C 14: 36,801,600 (GRCm39) N781S probably benign Het
Ctr9 C A 7: 110,642,064 (GRCm39) H297Q probably benign Het
Cyp2c55 A G 19: 39,026,587 (GRCm39) D398G probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Dnmt3l T C 10: 77,888,734 (GRCm39) probably null Het
Dock4 C A 12: 40,867,745 (GRCm39) N1440K probably damaging Het
Etnk1 T A 6: 143,141,043 (GRCm39) probably null Het
Fam120a A T 13: 49,063,726 (GRCm39) probably null Het
Fanca T C 8: 124,010,785 (GRCm39) D908G probably benign Het
Gm17535 T A 9: 3,035,786 (GRCm39) L218H probably benign Het
Gm3633 A C 14: 42,461,161 (GRCm39) N42K possibly damaging Het
Gm4781 C A 10: 100,232,851 (GRCm39) noncoding transcript Het
Gm8741 G T 17: 35,555,062 (GRCm39) noncoding transcript Het
Gpr139 A G 7: 118,744,165 (GRCm39) V140A probably benign Het
Ighv1-62-3 G T 12: 115,425,014 (GRCm39) T13K probably benign Het
Itgb2l T C 16: 96,226,205 (GRCm39) T629A possibly damaging Het
Kcnb2 T C 1: 15,779,724 (GRCm39) S199P probably damaging Het
Kdm1b G A 13: 47,230,962 (GRCm39) G663D probably damaging Het
Lama1 A G 17: 68,052,888 (GRCm39) D407G possibly damaging Het
Macf1 T C 4: 123,405,013 (GRCm39) K391R probably damaging Het
Magi3 A T 3: 104,013,107 (GRCm39) S127T probably damaging Het
Map2 A T 1: 66,477,955 (GRCm39) D1759V probably damaging Het
Mllt6 G A 11: 97,560,326 (GRCm39) S210N possibly damaging Het
Myrfl T C 10: 116,658,616 (GRCm39) D447G probably damaging Het
Ndufb7 A G 8: 84,298,094 (GRCm39) probably benign Het
Nt5e T A 9: 88,245,634 (GRCm39) N301K probably benign Het
Or10d4b A T 9: 39,534,856 (GRCm39) T146S possibly damaging Het
Or8g27 T A 9: 39,129,410 (GRCm39) Y252* probably null Het
Pcdh10 A G 3: 45,336,296 (GRCm39) N870S probably damaging Het
Pcdh18 A G 3: 49,709,305 (GRCm39) V670A probably benign Het
Phf8-ps A C 17: 33,286,734 (GRCm39) C23G probably damaging Het
Polr1c G T 17: 46,558,635 (GRCm39) probably benign Het
Ric3 G C 7: 108,637,930 (GRCm39) S274R probably benign Het
Rimbp3 A G 16: 17,031,195 (GRCm39) T1540A probably damaging Het
Rp1l1 A T 14: 64,268,805 (GRCm39) M1464L probably benign Het
Slc41a3 A G 6: 90,603,399 (GRCm39) Y140C probably damaging Het
Ssb A T 2: 69,696,581 (GRCm39) E38D possibly damaging Het
Syt14 A T 1: 192,709,292 (GRCm39) I16N probably damaging Het
Tet3 T C 6: 83,352,878 (GRCm39) T973A probably damaging Het
Tial1 T C 7: 128,045,692 (GRCm39) probably benign Het
Tnfrsf1a A G 6: 125,337,675 (GRCm39) T89A possibly damaging Het
Trpv5 T C 6: 41,652,879 (GRCm39) Y98C possibly damaging Het
Ylpm1 T A 12: 85,062,267 (GRCm39) S265T probably damaging Het
Ylpm1 A G 12: 85,089,013 (GRCm39) D1006G probably damaging Het
Other mutations in Ark2c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01802:Ark2c APN 18 77,550,610 (GRCm39) missense probably damaging 1.00
IGL02014:Ark2c APN 18 77,556,055 (GRCm39) missense probably damaging 0.99
IGL03210:Ark2c APN 18 77,554,435 (GRCm39) missense probably damaging 1.00
R0486:Ark2c UTSW 18 77,571,950 (GRCm39) missense probably damaging 0.97
R1523:Ark2c UTSW 18 77,550,634 (GRCm39) missense probably benign 0.17
R1650:Ark2c UTSW 18 77,550,113 (GRCm39) splice site probably null
R1853:Ark2c UTSW 18 77,550,671 (GRCm39) missense possibly damaging 0.68
R3402:Ark2c UTSW 18 77,652,782 (GRCm39) missense probably benign 0.02
R5415:Ark2c UTSW 18 77,554,435 (GRCm39) missense probably damaging 1.00
R5875:Ark2c UTSW 18 77,650,877 (GRCm39) intron probably benign
R6544:Ark2c UTSW 18 77,650,931 (GRCm39) intron probably benign
R7873:Ark2c UTSW 18 77,554,449 (GRCm39) missense possibly damaging 0.80
R8483:Ark2c UTSW 18 77,556,034 (GRCm39) missense probably benign 0.06
R8867:Ark2c UTSW 18 77,563,182 (GRCm39) missense possibly damaging 0.59
X0067:Ark2c UTSW 18 77,550,646 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGGTGCAATCATGAGACACCC -3'
(R):5'- GAGGATTTAAAGATACTGGCTCCC -3'

Sequencing Primer
(F):5'- TGCAATCATGAGACACCCTAGCAC -3'
(R):5'- CAGCGCATGGAGAGACTACC -3'
Posted On 2016-06-21