Incidental Mutation 'R6544:Ark2c'
ID 521060
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 044670-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # R6544 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 77543806-77652832 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to A at 77650931 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000026494] [ENSMUST00000182024] [ENSMUST00000182146]
AlphaFold E9QAU8
Predicted Effect probably benign
Transcript: ENSMUST00000026494
SMART Domains Protein: ENSMUSP00000026494
Gene: ENSMUSG00000025427

DomainStartEndE-ValueType
low complexity region 99 121 N/A INTRINSIC
RING 295 335 1.4e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000182024
SMART Domains Protein: ENSMUSP00000138494
Gene: ENSMUSG00000025427

DomainStartEndE-ValueType
RING 102 142 1.4e-8 SMART
Predicted Effect unknown
Transcript: ENSMUST00000182146
AA Change: T8S
Predicted Effect probably benign
Transcript: ENSMUST00000182153
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182294
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency 100% (48/48)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A030005K14Rik T A 1: 83,036,678 (GRCm39) K118* probably null Het
Actr2 A G 11: 20,050,933 (GRCm39) F17L probably damaging Het
Adam26b T C 8: 43,974,818 (GRCm39) I61M probably damaging Het
Ahcyl A C 16: 45,975,147 (GRCm39) S77A probably benign Het
Ahnak2 A G 12: 112,746,829 (GRCm39) probably benign Het
Angptl3 T C 4: 98,919,675 (GRCm39) L145P probably damaging Het
Ank2 T C 3: 126,726,871 (GRCm39) T808A probably damaging Het
Cadm3 A G 1: 173,194,977 (GRCm39) probably null Het
Cog7 C T 7: 121,534,966 (GRCm39) R573Q probably damaging Het
Dchs1 T A 7: 105,407,385 (GRCm39) I2110F probably damaging Het
Fbxo47 G A 11: 97,747,089 (GRCm39) R326C probably damaging Het
Frmpd1 A T 4: 45,279,024 (GRCm39) D583V probably damaging Het
Gigyf1 T A 5: 137,523,321 (GRCm39) L911Q probably damaging Het
Gprin1 G A 13: 54,888,124 (GRCm39) A50V possibly damaging Het
Grik4 A T 9: 42,459,024 (GRCm39) Y571* probably null Het
Gucy2e A G 11: 69,126,483 (GRCm39) V299A probably benign Het
Hectd2 C T 19: 36,589,728 (GRCm39) L618F probably damaging Het
Lactbl1 A T 4: 136,360,300 (GRCm39) I160F possibly damaging Het
Lats1 T A 10: 7,577,434 (GRCm39) V186D possibly damaging Het
Lmtk2 A G 5: 144,110,624 (GRCm39) H448R possibly damaging Het
Map10 T C 8: 126,398,113 (GRCm39) I502T probably benign Het
Mok A G 12: 110,777,189 (GRCm39) F239S probably damaging Het
Mprip G A 11: 59,648,552 (GRCm39) G752D probably benign Het
Naip5 C A 13: 100,359,652 (GRCm39) G528V possibly damaging Het
Neu2 T C 1: 87,524,464 (GRCm39) W150R probably damaging Het
Or1ak2 T A 2: 36,827,539 (GRCm39) M136K possibly damaging Het
Or5an1 T C 19: 12,260,519 (GRCm39) Y36H probably damaging Het
Or5as1 T A 2: 86,980,207 (GRCm39) Y266F probably damaging Het
Or5l13 T A 2: 87,780,335 (GRCm39) M81L probably benign Het
Pip5k1c T A 10: 81,144,830 (GRCm39) Y224N probably damaging Het
Plch1 T C 3: 63,758,399 (GRCm39) E5G probably damaging Het
Pspc1 T C 14: 57,001,660 (GRCm39) *59W probably null Het
Ptprq T C 10: 107,444,102 (GRCm39) T1501A probably damaging Het
Rorb G T 19: 18,929,614 (GRCm39) P304T possibly damaging Het
Scn7a A T 2: 66,514,444 (GRCm39) L1110Q probably damaging Het
Serpine2 C T 1: 79,780,847 (GRCm39) probably null Het
Slco1c1 A G 6: 141,477,170 (GRCm39) probably null Het
Smarca2 T A 19: 26,608,331 (GRCm39) V130D probably damaging Het
Sox17 G T 1: 4,562,655 (GRCm39) P117T possibly damaging Het
Sparcl1 A T 5: 104,240,310 (GRCm39) Y371* probably null Het
Tdpoz2 T C 3: 93,559,267 (GRCm39) D235G possibly damaging Het
Tns2 A C 15: 102,022,269 (GRCm39) K1182N possibly damaging Het
Tpte G T 8: 22,805,121 (GRCm39) probably null Het
Ttn A T 2: 76,799,503 (GRCm39) I459K possibly damaging Het
Wdr97 T C 15: 76,242,478 (GRCm39) Y823H probably benign Het
Zc3h15 G A 2: 83,491,492 (GRCm39) R240H probably benign Het
Zfp455 C A 13: 67,355,121 (GRCm39) L130I probably benign Het
Zfp777 A T 6: 48,021,419 (GRCm39) S68T 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
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
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'- ACATGGAACCAGCAAGCTG -3'
(R):5'- TCAGTGAATGGTCAACTCGC -3'

Sequencing Primer
(F):5'- CAAGCTGCAATGGTATTTAGGGATC -3'
(R):5'- AATGGTCAACTCGCTGCTG -3'
Posted On 2018-06-06