Incidental Mutation 'R3625:Ociad2'
ID 269370
Institutional Source Beutler Lab
Gene Symbol Ociad2
Ensembl Gene ENSMUSG00000029153
Gene Name OCIA domain containing 2
Synonyms 1810027I20Rik
MMRRC Submission 040679-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R3625 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 73479541-73496290 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 73481173 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 72 (C72Y)
Ref Sequence ENSEMBL: ENSMUSP00000144293 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087195] [ENSMUST00000200776] [ENSMUST00000200821] [ENSMUST00000200830] [ENSMUST00000201908] [ENSMUST00000202012]
AlphaFold Q9D8W7
Predicted Effect probably damaging
Transcript: ENSMUST00000087195
AA Change: C134Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000084445
Gene: ENSMUSG00000029153
AA Change: C134Y

DomainStartEndE-ValueType
Pfam:OCIA 12 120 2.6e-41 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000200776
AA Change: V33M

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000200821
SMART Domains Protein: ENSMUSP00000144201
Gene: ENSMUSG00000029153

DomainStartEndE-ValueType
Pfam:OCIA 10 88 5.8e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000200830
AA Change: C72Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000144072
Gene: ENSMUSG00000029153
AA Change: C72Y

DomainStartEndE-ValueType
Pfam:OCIA 1 58 1.1e-20 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000201908
AA Change: V95M

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000144012
Gene: ENSMUSG00000029153
AA Change: V95M

DomainStartEndE-ValueType
Pfam:OCIA 11 97 1.1e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000202012
AA Change: C72Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000144293
Gene: ENSMUSG00000029153
AA Change: C72Y

DomainStartEndE-ValueType
Pfam:OCIA 1 58 1.1e-20 PFAM
Meta Mutation Damage Score 0.3288 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 100% (40/40)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acte1 T C 7: 143,425,591 (GRCm39) V80A possibly damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atg3 T A 16: 44,995,624 (GRCm39) I119N probably benign Het
Cdh12 G C 15: 21,358,842 (GRCm39) V89L probably damaging Het
Cdh3 C A 8: 107,270,310 (GRCm39) H396N probably damaging Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Dab2ip C A 2: 35,533,903 (GRCm39) S43* probably null Het
Dmxl2 A G 9: 54,300,927 (GRCm39) S2394P probably benign Het
F13a1 T G 13: 37,082,067 (GRCm39) N546H probably benign Het
Fbn2 T C 18: 58,194,814 (GRCm39) N1449S probably damaging Het
Flywch1 T C 17: 23,979,175 (GRCm39) probably benign Het
Grxcr2 T A 18: 42,131,883 (GRCm39) D62V probably damaging Het
H2bc8 T C 13: 23,755,625 (GRCm39) probably benign Het
Ifnab A T 4: 88,609,016 (GRCm39) I150N probably damaging Het
Igsf8 T C 1: 172,145,336 (GRCm39) V284A probably benign Het
Kdm1a T C 4: 136,288,419 (GRCm39) E388G possibly damaging Het
Map3k8 G A 18: 4,333,965 (GRCm39) R376C probably damaging Het
Map6 A T 7: 98,918,402 (GRCm39) T189S possibly damaging Het
Mms22l T A 4: 24,505,357 (GRCm39) S206T probably damaging Het
N4bp1 A G 8: 87,578,337 (GRCm39) L676S probably damaging Het
Nkx6-2 A G 7: 139,162,106 (GRCm39) F117S possibly damaging Het
Or10w1 T A 19: 13,632,346 (GRCm39) C184* probably null Het
Or52e15 A T 7: 104,645,191 (GRCm39) F307I probably benign Het
Pcdhb6 G T 18: 37,469,193 (GRCm39) V21L probably damaging Het
Pogk G A 1: 166,231,081 (GRCm39) T82I probably damaging Het
Pramel51 T C 12: 88,142,731 (GRCm39) S296G probably benign Het
Prkcsh A G 9: 21,922,548 (GRCm39) E283G probably null Het
Prkd3 C T 17: 79,292,733 (GRCm39) R113H probably damaging Het
Rabgef1 T C 5: 130,240,961 (GRCm39) probably null Het
Rec8 T C 14: 55,859,954 (GRCm39) I234T possibly damaging Het
Sim1 A T 10: 50,857,432 (GRCm39) H394L probably benign Het
Thy1 A G 9: 43,958,028 (GRCm39) E52G probably damaging Het
Trav14n-3 A T 14: 53,607,543 (GRCm39) I4F probably damaging Het
Trim15 T C 17: 37,177,768 (GRCm39) T76A possibly damaging Het
Ttn A G 2: 76,599,145 (GRCm39) I19288T probably damaging Het
Vmn1r6 C T 6: 56,979,920 (GRCm39) T172I probably damaging Het
Vmn2r52 A T 7: 9,893,105 (GRCm39) L678Q probably damaging Het
Vpreb1a T C 16: 16,686,668 (GRCm39) H74R probably benign Het
Yeats4 T C 10: 117,056,273 (GRCm39) I100V probably benign Het
Zfp36 C A 7: 28,077,681 (GRCm39) A76S probably benign Het
Other mutations in Ociad2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5801:Ociad2 UTSW 5 73,483,642 (GRCm39) missense probably damaging 1.00
R7139:Ociad2 UTSW 5 73,493,218 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGCCACGCTCATGTCAATC -3'
(R):5'- AGACATTTCTCTGCATTGCTTACTG -3'

Sequencing Primer
(F):5'- GTCAATCGAGAGTCTTCTACAGC -3'
(R):5'- TACTGTGGTAAGATGAGCACTTAG -3'
Posted On 2015-02-19