Incidental Mutation 'R5340:Dync2li1'
ID 422299
Institutional Source Beutler Lab
Gene Symbol Dync2li1
Ensembl Gene ENSMUSG00000024253
Gene Name dynein cytoplasmic 2 light intermediate chain 1
Synonyms 4933404O11Rik, mD2LIC, LIC3, CGI-60, D2lic
MMRRC Submission 042919-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5340 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 84933924-84963016 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 84957130 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000025101 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025101]
AlphaFold Q8K0T2
Predicted Effect probably null
Transcript: ENSMUST00000025101
SMART Domains Protein: ENSMUSP00000025101
Gene: ENSMUSG00000024253

DomainStartEndE-ValueType
Pfam:DLIC 2 179 3.3e-8 PFAM
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 96.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is a component of the dynein-2 microtubule motor protein complex that plays a role in the retrograde transport of cargo in primary cilia via the intraflagellar transport system. This gene is ubiquitously expressed and its protein, which localizes to the axoneme and Golgi apparatus, interacts directly with the cytoplasmic dynein 2 heavy chain 1 protein to form part of the multi-protein dynein-2 complex. Mutations in this gene produce defects in the dynein-2 complex which result in several types of ciliopathy including short-rib thoracic dysplasia 15 with polydactyly (SRTD15). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2017]
PHENOTYPE: Mice homozygous for disruptions in this allele die before embryonic day 11.5. They display neural tube defects in addition to a variety developmental patterning abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aqp7 T C 4: 41,034,347 (GRCm39) R271G probably benign Het
Atp4a A G 7: 30,420,231 (GRCm39) I793V probably benign Het
Baz2a C T 10: 127,950,911 (GRCm39) R535C probably damaging Het
BC034090 T C 1: 155,102,160 (GRCm39) T35A possibly damaging Het
Bnip1 T C 17: 27,005,764 (GRCm39) probably null Het
Ccdc136 A G 6: 29,411,859 (GRCm39) S369G possibly damaging Het
Csrnp3 A G 2: 65,852,781 (GRCm39) D391G probably benign Het
Ctbp2 G T 7: 132,615,692 (GRCm39) H414Q probably benign Het
Dnah6 A G 6: 73,189,603 (GRCm39) I15T probably benign Het
Eri3 A T 4: 117,530,991 (GRCm39) I329F probably damaging Het
Flii T A 11: 60,608,094 (GRCm39) I786F probably damaging Het
Fmo1 A T 1: 162,657,551 (GRCm39) I530N probably benign Het
Gm28042 T C 2: 119,871,929 (GRCm39) S960P probably benign Het
Gzmm C A 10: 79,530,907 (GRCm39) F236L probably benign Het
H2bl1 C T 13: 99,120,951 (GRCm39) R25H possibly damaging Het
Igkv4-55 A G 6: 69,584,489 (GRCm39) V41A probably damaging Het
Ipo9 A G 1: 135,313,170 (GRCm39) Y1020H probably benign Het
Masp1 T C 16: 23,276,858 (GRCm39) Y549C probably damaging Het
Mblac1 A T 5: 138,192,840 (GRCm39) S61C probably damaging Het
Mical1 T A 10: 41,359,427 (GRCm39) probably null Het
Mroh9 C T 1: 162,908,156 (GRCm39) probably benign Het
Mta2 T C 19: 8,919,720 (GRCm39) M1T probably null Het
Neb A G 2: 52,113,060 (GRCm39) Y4245H probably damaging Het
Or11j4 T C 14: 50,630,677 (GRCm39) F155L probably damaging Het
Or4c52 T C 2: 89,845,706 (GRCm39) V144A probably benign Het
Otulinl T C 15: 27,658,175 (GRCm39) M282V possibly damaging Het
Pak2 G T 16: 31,853,764 (GRCm39) probably null Het
Phc3 A T 3: 30,961,616 (GRCm39) F939I probably damaging Het
Prss3l T C 6: 41,422,307 (GRCm39) N33D probably benign Het
Rogdi C A 16: 4,831,225 (GRCm39) R14L probably benign Het
Ryr3 T C 2: 112,664,470 (GRCm39) Y1627C probably damaging Het
Scrn3 A T 2: 73,166,154 (GRCm39) K396* probably null Het
Sh3pxd2a T C 19: 47,256,670 (GRCm39) N683D probably benign Het
Smtnl1 T A 2: 84,645,785 (GRCm39) H362L probably damaging Het
Sned1 A G 1: 93,210,479 (GRCm39) S927G probably benign Het
Tcaf1 A G 6: 42,655,923 (GRCm39) V351A probably damaging Het
Tmem232 C T 17: 65,709,993 (GRCm39) V432M possibly damaging Het
Ttll11 G T 2: 35,792,801 (GRCm39) H347Q probably damaging Het
Vmn2r56 A C 7: 12,449,799 (GRCm39) D146E probably damaging Het
Wwp1 A G 4: 19,638,773 (GRCm39) probably null Het
Zcchc7 T A 4: 44,762,245 (GRCm39) N124K probably benign Het
Zfp667 A G 7: 6,308,252 (GRCm39) T307A possibly damaging Het
Zfp709 T A 8: 72,643,596 (GRCm39) C342S probably damaging Het
Zfp940 A G 7: 29,544,266 (GRCm39) V547A probably benign Het
Other mutations in Dync2li1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00329:Dync2li1 APN 17 84,952,154 (GRCm39) missense possibly damaging 0.86
IGL00661:Dync2li1 APN 17 84,956,668 (GRCm39) missense possibly damaging 0.88
IGL01450:Dync2li1 APN 17 84,940,984 (GRCm39) missense possibly damaging 0.53
IGL01610:Dync2li1 APN 17 84,935,742 (GRCm39) missense probably damaging 1.00
R0387:Dync2li1 UTSW 17 84,962,768 (GRCm39) missense possibly damaging 0.69
R0883:Dync2li1 UTSW 17 84,956,699 (GRCm39) missense probably benign 0.01
R1499:Dync2li1 UTSW 17 84,954,667 (GRCm39) splice site probably benign
R1823:Dync2li1 UTSW 17 84,957,225 (GRCm39) missense probably damaging 0.98
R2164:Dync2li1 UTSW 17 84,943,702 (GRCm39) missense probably damaging 1.00
R2394:Dync2li1 UTSW 17 84,952,175 (GRCm39) missense possibly damaging 0.94
R2443:Dync2li1 UTSW 17 84,955,093 (GRCm39) missense probably benign 0.30
R3901:Dync2li1 UTSW 17 84,939,070 (GRCm39) missense probably damaging 1.00
R4151:Dync2li1 UTSW 17 84,935,763 (GRCm39) missense probably benign 0.00
R4934:Dync2li1 UTSW 17 84,956,683 (GRCm39) missense probably benign
R4960:Dync2li1 UTSW 17 84,940,969 (GRCm39) missense probably benign 0.07
R5841:Dync2li1 UTSW 17 84,940,990 (GRCm39) missense probably damaging 1.00
R6230:Dync2li1 UTSW 17 84,955,078 (GRCm39) missense probably damaging 0.97
R7331:Dync2li1 UTSW 17 84,955,086 (GRCm39) nonsense probably null
R7447:Dync2li1 UTSW 17 84,955,141 (GRCm39) missense possibly damaging 0.77
R8492:Dync2li1 UTSW 17 84,957,134 (GRCm39) splice site probably null
R8827:Dync2li1 UTSW 17 84,955,079 (GRCm39) missense possibly damaging 0.83
R9228:Dync2li1 UTSW 17 84,957,137 (GRCm39) missense probably benign 0.00
R9231:Dync2li1 UTSW 17 84,935,819 (GRCm39) missense probably null 0.19
Predicted Primers PCR Primer
(F):5'- TGTTAGAAGACGGAGACACCTG -3'
(R):5'- ACACTGGAAAAGGGTCTGTG -3'

Sequencing Primer
(F):5'- ACGGAGACACCTGACCCTG -3'
(R):5'- AATATTTACATTTCCTTTGGGTGGTG -3'
Posted On 2016-08-04