Incidental Mutation 'R2210:2210016L21Rik'
ID 239307
Institutional Source Beutler Lab
Gene Symbol 2210016L21Rik
Ensembl Gene ENSMUSG00000029559
Gene Name RIKEN cDNA 2210016L21 gene
Synonyms
MMRRC Submission 040212-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.027) question?
Stock # R2210 (G1)
Quality Score 200
Status Not validated
Chromosome 5
Chromosomal Location 115080213-115086610 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 115080348 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 28 (R28G)
Ref Sequence ENSEMBL: ENSMUSP00000031538 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031538] [ENSMUST00000031540] [ENSMUST00000112143]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000031538
AA Change: R28G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000031538
Gene: ENSMUSG00000029559
AA Change: R28G

DomainStartEndE-ValueType
low complexity region 5 19 N/A INTRINSIC
low complexity region 40 52 N/A INTRINSIC
low complexity region 150 158 N/A INTRINSIC
low complexity region 182 206 N/A INTRINSIC
low complexity region 229 237 N/A INTRINSIC
low complexity region 240 255 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000031540
SMART Domains Protein: ENSMUSP00000031540
Gene: ENSMUSG00000041827

DomainStartEndE-ValueType
low complexity region 31 42 N/A INTRINSIC
Pfam:OAS1_C 162 348 8e-76 PFAM
UBQ 350 425 1.58e0 SMART
UBQ 430 501 2.22e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112143
SMART Domains Protein: ENSMUSP00000107771
Gene: ENSMUSG00000041827

DomainStartEndE-ValueType
low complexity region 31 42 N/A INTRINSIC
Pfam:OAS1_C 163 346 1.9e-79 PFAM
UBQ 350 425 1.58e0 SMART
UBQ 430 501 2.22e-11 SMART
Predicted Effect unknown
Transcript: ENSMUST00000131427
AA Change: R27G
Predicted Effect probably benign
Transcript: ENSMUST00000131771
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140090
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155274
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147743
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb1 C T 15: 74,419,553 (GRCm39) A798V probably damaging Het
Ash1l G T 3: 88,973,605 (GRCm39) D2555Y probably damaging Het
Atr G A 9: 95,789,353 (GRCm39) R1503Q probably damaging Het
Cbln3 T A 14: 56,121,383 (GRCm39) I88F possibly damaging Het
Cct7 G A 6: 85,436,212 (GRCm39) G41D probably damaging Het
Cd1d2 G T 3: 86,895,041 (GRCm39) A138S possibly damaging Het
Dct T C 14: 118,280,561 (GRCm39) I152V probably benign Het
Dgkq C A 5: 108,808,389 (GRCm39) R58L probably damaging Het
Emc10 G A 7: 44,142,616 (GRCm39) R109W probably damaging Het
Gm4884 A T 7: 40,692,970 (GRCm39) E313V possibly damaging Het
Hectd1 A T 12: 51,853,245 (GRCm39) I92K probably damaging Het
Icam1 A G 9: 20,930,329 (GRCm39) E61G probably damaging Het
Itgb2l C T 16: 96,227,421 (GRCm39) V541M possibly damaging Het
Lmtk2 A G 5: 144,084,427 (GRCm39) E154G probably damaging Het
Majin C A 19: 6,272,728 (GRCm39) H223N possibly damaging Het
Mc4r A T 18: 66,992,466 (GRCm39) F216I probably damaging Het
Muc4 AG AGG 16: 32,755,176 (GRCm38) probably null Het
Obscn A T 11: 58,958,913 (GRCm39) V3379D probably damaging Het
Or8g30 A T 9: 39,230,089 (GRCm39) S274T probably damaging Het
Pde4b A T 4: 102,454,672 (GRCm39) N346I probably damaging Het
Pitpnm1 T C 19: 4,155,253 (GRCm39) S331P probably damaging Het
Plcb2 T A 2: 118,547,984 (GRCm39) I437F probably damaging Het
Pramel14 T A 4: 143,720,789 (GRCm39) M51L probably benign Het
Prr12 A G 7: 44,698,775 (GRCm39) probably benign Het
Pus7l T G 15: 94,438,173 (GRCm39) D224A possibly damaging Het
Sh3pxd2a A G 19: 47,255,782 (GRCm39) S1007P possibly damaging Het
Stac G A 9: 111,431,638 (GRCm39) P238S probably damaging Het
Tmem107 A G 11: 68,962,096 (GRCm39) E45G possibly damaging Het
Tmt1b T A 10: 128,794,591 (GRCm39) K244N probably damaging Het
Triml2 T C 8: 43,636,397 (GRCm39) Y61H probably damaging Het
Uba2 T C 7: 33,862,587 (GRCm39) D95G probably damaging Het
Ube2d3 T A 3: 135,168,802 (GRCm39) D132E probably benign Het
Unc5d A G 8: 29,251,825 (GRCm39) I216T probably damaging Het
Other mutations in 2210016L21Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00922:2210016L21Rik APN 5 115,085,236 (GRCm39) splice site probably null
R7973:2210016L21Rik UTSW 5 115,084,112 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- CCAATGGTGGTCTGGGAACTAC -3'
(R):5'- GTCAGGAGGCATTTAGGTGC -3'

Sequencing Primer
(F):5'- TGGTCTGGGAACTACAATTCC -3'
(R):5'- GTGTCAGTGTGATCCCCAAAAGATC -3'
Posted On 2014-10-15