Incidental Mutation 'R1650:Ark2c'
ID 174211
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 039686-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # R1650 (G1)
Quality Score 180
Status Validated
Chromosome 18
Chromosomal Location 77543806-77652832 bp(-) (GRCm39)
Type of Mutation splice site (4320 bp from exon)
DNA Base Change (assembly) A to C at 77550113 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000026494] [ENSMUST00000182024]
AlphaFold E9QAU8
Predicted Effect probably benign
Transcript: ENSMUST00000026494
AA Change: L320R

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000026494
Gene: ENSMUSG00000025427
AA Change: L320R

DomainStartEndE-ValueType
low complexity region 99 121 N/A INTRINSIC
RING 295 335 1.4e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000182024
AA Change: L127R

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000138494
Gene: ENSMUSG00000025427
AA Change: L127R

DomainStartEndE-ValueType
RING 102 142 1.4e-8 SMART
Predicted Effect probably null
Transcript: ENSMUST00000182153
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182805
Meta Mutation Damage Score 0.0834 question?
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.4%
  • 10x: 93.0%
  • 20x: 83.4%
Validation Efficiency 99% (86/87)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb2 T G 2: 103,532,747 (GRCm39) V515G probably damaging Het
Arl5a A T 2: 52,302,117 (GRCm39) I99N probably damaging Het
Atp8b1 A G 18: 64,704,620 (GRCm39) probably benign Het
Bag4 T A 8: 26,267,452 (GRCm39) Q126L probably damaging Het
Ccser1 A G 6: 61,615,474 (GRCm39) T659A probably benign Het
Cenpn A G 8: 117,661,498 (GRCm39) D199G probably damaging Het
Cfhr3 A G 1: 139,521,564 (GRCm39) noncoding transcript Het
Clca3a2 T A 3: 144,797,973 (GRCm39) H164L probably damaging Het
Col5a1 C A 2: 27,812,171 (GRCm39) S84R unknown Het
Ctsc T A 7: 87,930,634 (GRCm39) L71* probably null Het
Cyp2c70 A G 19: 40,153,921 (GRCm39) Y223H probably benign Het
Dbt A G 3: 116,328,381 (GRCm39) probably null Het
Dlg2 T C 7: 92,080,259 (GRCm39) V614A probably damaging Het
Dll4 T C 2: 119,161,611 (GRCm39) S398P probably damaging Het
Dyrk4 T C 6: 126,876,792 (GRCm39) K62E probably benign Het
Fgf22 A T 10: 79,591,023 (GRCm39) Y24F probably damaging Het
Ggt5 A G 10: 75,440,595 (GRCm39) R239G probably benign Het
Gm11360 C T 13: 28,140,379 (GRCm39) A81V unknown Het
Htr5b T A 1: 121,455,891 (GRCm39) T10S probably benign Het
Igsf10 T C 3: 59,233,583 (GRCm39) R1717G probably damaging Het
Itsn2 T A 12: 4,687,767 (GRCm39) V556D probably damaging Het
Kdm3b T C 18: 34,942,168 (GRCm39) V553A possibly damaging Het
Krt84 G A 15: 101,434,398 (GRCm39) S523F possibly damaging Het
Lca5l T C 16: 95,980,140 (GRCm39) probably null Het
Lmbrd1 T C 1: 24,750,639 (GRCm39) W171R probably damaging Het
Lrp6 T C 6: 134,445,732 (GRCm39) Y1027C probably benign Het
Macf1 A T 4: 123,350,393 (GRCm39) Y1702* probably null Het
Mon2 T C 10: 122,831,682 (GRCm39) I1675V probably benign Het
Mtcl1 T A 17: 66,692,871 (GRCm39) K486M probably damaging Het
Nek1 A T 8: 61,489,110 (GRCm39) H338L probably benign Het
Ola1 A T 2: 72,987,238 (GRCm39) D131E possibly damaging Het
Olr1 T A 6: 129,484,052 (GRCm39) M7L probably benign Het
Or1f12 T C 13: 21,721,249 (GRCm39) N294D probably damaging Het
Or4k36 C T 2: 111,146,640 (GRCm39) A272V probably benign Het
Or5t18 A T 2: 86,637,091 (GRCm39) M84K possibly damaging Het
Or5w10 C A 2: 87,375,772 (GRCm39) V39L probably benign Het
Or7g27 T G 9: 19,249,943 (GRCm39) F62L possibly damaging Het
Or9m2 C T 2: 87,821,145 (GRCm39) A230V probably benign Het
Pan2 G A 10: 128,153,768 (GRCm39) E980K probably damaging Het
Pgm1 C A 4: 99,819,276 (GRCm39) Q149K probably benign Het
Pgm1 A G 4: 99,819,267 (GRCm39) K146E possibly damaging Het
Phlpp2 T C 8: 110,660,587 (GRCm39) probably benign Het
Plekhs1 G T 19: 56,459,474 (GRCm39) G75C probably damaging Het
Plin4 G A 17: 56,411,931 (GRCm39) T700I probably damaging Het
Podxl2 G A 6: 88,826,901 (GRCm39) P71L probably benign Het
Pot1a A T 6: 25,745,964 (GRCm39) V579D probably damaging Het
Poteg A G 8: 27,953,813 (GRCm39) D318G probably benign Het
Ppp4r3a A T 12: 101,010,878 (GRCm39) D554E probably damaging Het
Proser3 G A 7: 30,239,751 (GRCm39) A451V probably damaging Het
Shld2 T A 14: 33,981,574 (GRCm39) probably benign Het
Strc T C 2: 121,211,366 (GRCm39) probably benign Het
Syce1 C A 7: 140,358,300 (GRCm39) C216F possibly damaging Het
Syne2 A T 12: 75,951,033 (GRCm39) K395* probably null Het
Trim28 G A 7: 12,764,776 (GRCm39) G831D possibly damaging Het
Tyw1 A G 5: 130,317,752 (GRCm39) I434V possibly damaging Het
Ubox5 G A 2: 130,442,345 (GRCm39) A114V probably benign Het
Ubqln3 C T 7: 103,790,228 (GRCm39) V621I possibly damaging Het
Unc79 A G 12: 103,079,052 (GRCm39) D1543G possibly damaging Het
Vmn2r115 ATCTTCT ATCT 17: 23,578,962 (GRCm39) probably benign Het
Wrnip1 C A 13: 32,989,362 (GRCm39) H283Q probably benign Het
Zan A T 5: 137,392,863 (GRCm39) probably benign Het
Zcchc10 A T 11: 53,218,229 (GRCm39) K1* probably null Het
Zfp592 T A 7: 80,687,848 (GRCm39) S925T probably benign 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
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
R5039:Ark2c UTSW 18 77,550,608 (GRCm39) missense probably damaging 1.00
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'- AAGGCGATGAGGCAGTCACCATTC -3'
(R):5'- TGGTTTCCCATTTCAGCCGCAG -3'

Sequencing Primer
(F):5'- AGGCAGTCACCATTCCTGATG -3'
(R):5'- TTCACCAAGTCTCCAGTGGT -3'
Posted On 2014-04-24