Incidental Mutation 'R8447:Dynll2'
ID 654561
Institutional Source Beutler Lab
Gene Symbol Dynll2
Ensembl Gene ENSMUSG00000020483
Gene Name dynein light chain LC8-type 2
Synonyms 1700064A15Rik, 6720463E02Rik
MMRRC Submission 067902-MU
Accession Numbers
Essential gene? Not available question?
Stock # R8447 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 87870351-87878359 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 87874719 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 37 (D37E)
Ref Sequence ENSEMBL: ENSMUSP00000020775 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020775] [ENSMUST00000107923] [ENSMUST00000146941] [ENSMUST00000178105]
AlphaFold Q9D0M5
PDB Structure Localisation of Dynein Light Chains 1 and 2 and their Pro-apoptotic Ligands [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000020775
AA Change: D37E

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000020775
Gene: ENSMUSG00000020483
AA Change: D37E

DomainStartEndE-ValueType
Dynein_light 1 88 1.12e-60 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107923
AA Change: D37E

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000103556
Gene: ENSMUSG00000020483
AA Change: D37E

DomainStartEndE-ValueType
Pfam:Dynein_light 1 89 3.8e-49 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000146941
AA Change: D37E

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000119655
Gene: ENSMUSG00000020483
AA Change: D37E

DomainStartEndE-ValueType
Pfam:Dynein_light 1 48 4.8e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000178105
AA Change: D37E

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000136241
Gene: ENSMUSG00000020483
AA Change: D37E

DomainStartEndE-ValueType
Pfam:Dynein_light 1 89 3.8e-49 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A C 5: 8,957,278 (GRCm39) T136P probably damaging Het
Abcc3 A T 11: 94,254,886 (GRCm39) L639Q possibly damaging Het
Adam10 T A 9: 70,655,400 (GRCm39) N289K probably damaging Het
Akap12 A G 10: 4,306,289 (GRCm39) E1138G probably benign Het
Akr1e1 C A 13: 4,648,793 (GRCm39) L167F probably damaging Het
Cars1 T C 7: 143,123,766 (GRCm39) K506E possibly damaging Het
Castor1 T C 11: 4,170,165 (GRCm39) V81A probably damaging Het
Cfap46 C A 7: 139,260,902 (GRCm39) R65S possibly damaging Het
Cfap57 C T 4: 118,472,128 (GRCm39) V84I probably benign Het
Clec16a C A 16: 10,559,487 (GRCm39) T920K probably benign Het
Coro2b C T 9: 62,333,842 (GRCm39) E351K probably damaging Het
Diablo T C 5: 123,655,829 (GRCm39) E163G probably damaging Het
Dnah6 A G 6: 73,115,757 (GRCm39) L1547P probably damaging Het
Eml4 A T 17: 83,755,656 (GRCm39) Q408L probably damaging Het
F2rl3 T C 8: 73,489,963 (GRCm39) *397R probably null Het
Fance T A 17: 28,545,155 (GRCm39) L127Q unknown Het
Fat4 T C 3: 39,033,824 (GRCm39) V2492A possibly damaging Het
Ggta1 C T 2: 35,292,573 (GRCm39) D245N probably damaging Het
Gli1 T C 10: 127,166,106 (GRCm39) N1049S probably benign Het
Grin2c A G 11: 115,148,215 (GRCm39) V354A probably benign Het
Kank4 T A 4: 98,666,729 (GRCm39) I573F probably damaging Het
Kdm3a A G 6: 71,588,881 (GRCm39) V376A probably benign Het
Kndc1 T C 7: 139,481,121 (GRCm39) V69A probably damaging Het
Lcmt1 T A 7: 123,020,825 (GRCm39) L250Q probably damaging Het
Ldhb A T 6: 142,444,356 (GRCm39) V99D probably damaging Het
Lepr T C 4: 101,671,688 (GRCm39) V904A probably benign Het
Lipe G T 7: 25,080,017 (GRCm39) N710K probably damaging Het
Med1 C A 11: 98,060,240 (GRCm39) D230Y probably damaging Het
Mpv17l T A 16: 13,758,864 (GRCm39) I96K probably benign Het
Obox1 A T 7: 15,289,541 (GRCm39) Q110L probably damaging Het
Or11h6 T C 14: 50,880,008 (GRCm39) V84A probably benign Het
Or4f4b T A 2: 111,314,101 (GRCm39) Y137N probably damaging Het
Or4k37 T A 2: 111,159,307 (GRCm39) I181N possibly damaging Het
Or5t16 T A 2: 86,818,885 (GRCm39) I212F probably benign Het
Or6c76 T G 10: 129,612,371 (GRCm39) M211R possibly damaging Het
Or9s14 C A 1: 92,535,494 (GRCm39) probably benign Het
Pah T C 10: 87,417,827 (GRCm39) probably null Het
Pate1 A T 9: 35,597,631 (GRCm39) N40K probably benign Het
Pclo C A 5: 14,731,423 (GRCm39) D182E Het
Prl7a2 A T 13: 27,849,941 (GRCm39) S44T possibly damaging Het
Pwp2 T A 10: 78,007,873 (GRCm39) D894V probably benign Het
Ripor2 T A 13: 24,907,771 (GRCm39) L1014Q probably damaging Het
Rpe G A 1: 66,740,188 (GRCm39) probably null Het
Sh2d3c A G 2: 32,642,671 (GRCm39) T706A probably damaging Het
Slc34a1 T C 13: 24,006,309 (GRCm39) F445S possibly damaging Het
Spata20 C A 11: 94,373,080 (GRCm39) L515F probably damaging Het
Tcf20 G A 15: 82,737,437 (GRCm39) S1338F possibly damaging Het
Tm9sf2 C A 14: 122,377,180 (GRCm39) P236Q probably damaging Het
Tmem135 T C 7: 88,803,240 (GRCm39) Y311C probably damaging Het
Tmem245 T C 4: 56,906,261 (GRCm39) Q548R probably benign Het
Tmem94 G T 11: 115,688,023 (GRCm39) C1190F possibly damaging Het
Tmem94 G A 11: 115,688,696 (GRCm39) R1301H probably benign Het
Zp3 G A 5: 136,013,244 (GRCm39) G192E probably damaging Het
Other mutations in Dynll2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1714:Dynll2 UTSW 11 87,874,838 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- AATTCAGCTGCTTCACATGTC -3'
(R):5'- GTTCATGTGCTCCCACCATG -3'

Sequencing Primer
(F):5'- CATGTCTGCAGGCTTTCTCAGAAG -3'
(R):5'- TTATAGCTCCCAACCCATAGCTC -3'
Posted On 2020-10-20