Incidental Mutation 'R0711:Dnai2'
ID 62754
Institutional Source Beutler Lab
Gene Symbol Dnai2
Ensembl Gene ENSMUSG00000034706
Gene Name dynein axonemal intermediate chain 2
Synonyms C030015H18Rik, b2b3405Clo, Dnaic2
MMRRC Submission 038894-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.230) question?
Stock # R0711 (G1)
Quality Score 176
Status Validated
Chromosome 11
Chromosomal Location 114618234-114648715 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 114645158 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 531 (D531A)
Ref Sequence ENSEMBL: ENSMUSP00000090126 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069325] [ENSMUST00000092469] [ENSMUST00000141762]
AlphaFold A2AC93
Predicted Effect probably benign
Transcript: ENSMUST00000069325
AA Change: D531A

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000065787
Gene: ENSMUSG00000034706
AA Change: D531A

DomainStartEndE-ValueType
low complexity region 127 146 N/A INTRINSIC
WD40 206 245 2.86e0 SMART
WD40 248 293 3.33e-1 SMART
WD40 353 392 7.92e-3 SMART
WD40 396 436 2.05e1 SMART
WD40 441 480 4.93e1 SMART
low complexity region 519 545 N/A INTRINSIC
low complexity region 559 608 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000092469
AA Change: D531A

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000090126
Gene: ENSMUSG00000034706
AA Change: D531A

DomainStartEndE-ValueType
low complexity region 127 146 N/A INTRINSIC
WD40 206 245 2.86e0 SMART
WD40 248 293 3.33e-1 SMART
WD40 353 392 7.92e-3 SMART
WD40 396 436 2.05e1 SMART
WD40 441 480 4.93e1 SMART
low complexity region 519 545 N/A INTRINSIC
low complexity region 559 608 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130692
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136403
Predicted Effect probably benign
Transcript: ENSMUST00000141762
AA Change: D519A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000114700
Gene: ENSMUSG00000034706
AA Change: D519A

DomainStartEndE-ValueType
low complexity region 127 146 N/A INTRINSIC
WD40 206 245 2.86e0 SMART
WD40 248 293 3.33e-1 SMART
WD40 353 392 7.92e-3 SMART
WD40 396 436 2.05e1 SMART
low complexity region 458 476 N/A INTRINSIC
low complexity region 507 533 N/A INTRINSIC
low complexity region 548 562 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144872
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 91.4%
Validation Efficiency 100% (91/91)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the dynein intermediate chain family, and is part of the dynein complex of respiratory cilia and sperm flagella. Mutations in this gene are associated with primary ciliary dyskinesia type 9. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit situs inversus totalis and immotile respiratory cilia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T A 3: 137,773,986 (GRCm39) D1058E probably damaging Het
4933405L10Rik A T 8: 106,435,563 (GRCm39) probably null Het
Adamtsl3 T A 7: 82,114,907 (GRCm39) probably benign Het
Afdn C T 17: 14,072,698 (GRCm39) P874S probably damaging Het
Ankrd6 G A 4: 32,815,326 (GRCm39) A391V probably damaging Het
Arhgef28 T G 13: 98,067,762 (GRCm39) T1388P probably damaging Het
Asxl3 G T 18: 22,657,508 (GRCm39) M1839I probably benign Het
BC005537 T C 13: 24,989,923 (GRCm39) F129L probably damaging Het
Celf2 A G 2: 6,726,226 (GRCm39) probably null Het
Chid1 C T 7: 141,076,590 (GRCm39) V325I probably benign Het
Cnn3 T A 3: 121,243,633 (GRCm39) D31E probably benign Het
Col12a1 G A 9: 79,559,317 (GRCm39) P1857L probably damaging Het
Cpeb1 T A 7: 81,001,618 (GRCm39) R430W probably benign Het
Daw1 T C 1: 83,169,059 (GRCm39) probably benign Het
Dcaf13 A G 15: 39,001,484 (GRCm39) Y264C probably damaging Het
Dnah6 T C 6: 73,064,585 (GRCm39) I2666V probably damaging Het
Dock10 A T 1: 80,501,692 (GRCm39) F1833I probably damaging Het
Efhd2 C T 4: 141,587,183 (GRCm39) A200T probably damaging Het
Epb41l5 T A 1: 119,551,641 (GRCm39) probably benign Het
Ermp1 A G 19: 29,608,788 (GRCm39) Y164H possibly damaging Het
Gkn2 T C 6: 87,350,401 (GRCm39) probably benign Het
Golgb1 A T 16: 36,739,152 (GRCm39) Q2497L probably damaging Het
Gzme A T 14: 56,355,196 (GRCm39) M245K probably damaging Het
Iars2 A T 1: 185,054,585 (GRCm39) probably benign Het
Icosl T A 10: 77,909,775 (GRCm39) V240D probably damaging Het
Igsf3 T C 3: 101,334,709 (GRCm39) M262T probably benign Het
Ing3 G T 6: 21,971,236 (GRCm39) E336* probably null Het
Kat2a A T 11: 100,597,297 (GRCm39) V625E probably damaging Het
Ksr1 A G 11: 78,929,073 (GRCm39) probably benign Het
Lypd8 A T 11: 58,277,583 (GRCm39) M122L probably benign Het
Mdfi A T 17: 48,143,855 (GRCm39) probably benign Het
Med13 A G 11: 86,192,179 (GRCm39) probably benign Het
Msh6 C T 17: 88,294,112 (GRCm39) R956C probably damaging Het
Myo15b A G 11: 115,774,664 (GRCm39) E670G probably damaging Het
Myo1d A G 11: 80,375,158 (GRCm39) L972P probably damaging Het
Or4s2b A G 2: 88,509,018 (GRCm39) D266G probably damaging Het
Or51ai2 G A 7: 103,587,024 (GRCm39) A146T probably benign Het
Or7g12 T A 9: 18,899,447 (GRCm39) N54K probably benign Het
Pde8b C G 13: 95,244,325 (GRCm39) S143T possibly damaging Het
Pias4 G T 10: 80,993,364 (GRCm39) probably benign Het
Prkca A G 11: 107,872,480 (GRCm39) Y427H probably benign Het
Psg25 G A 7: 18,263,485 (GRCm39) Q113* probably null Het
Rab3gap2 T A 1: 184,982,123 (GRCm39) S392T probably damaging Het
Scrib A G 15: 75,938,756 (GRCm39) probably benign Het
Sdk2 A G 11: 113,793,970 (GRCm39) probably benign Het
Serpinb1c T A 13: 33,070,266 (GRCm39) probably benign Het
Serpinb9f T A 13: 33,511,904 (GRCm39) W136R probably damaging Het
Skic3 C T 13: 76,331,010 (GRCm39) P1480L probably damaging Het
Skint10 C A 4: 112,573,102 (GRCm39) probably benign Het
Slc25a13 T C 6: 6,117,128 (GRCm39) T196A probably damaging Het
Slc26a5 T C 5: 22,052,230 (GRCm39) H33R probably damaging Het
Slc27a6 T C 18: 58,731,829 (GRCm39) probably benign Het
Slitrk6 A T 14: 110,987,251 (GRCm39) Y819N probably damaging Het
Spata46 C T 1: 170,139,603 (GRCm39) Q201* probably null Het
Sptbn1 A T 11: 30,064,739 (GRCm39) V1920E probably damaging Het
Taf6l A G 19: 8,755,881 (GRCm39) F256L probably benign Het
Tmco3 T A 8: 13,342,039 (GRCm39) N104K probably damaging Het
Tmem200c A G 17: 69,149,249 (GRCm39) T611A probably damaging Het
Tmem202 T G 9: 59,432,655 (GRCm39) Y24S probably damaging Het
Tpp1 A G 7: 105,398,626 (GRCm39) L230P probably damaging Het
Trim56 C T 5: 137,141,846 (GRCm39) E557K probably benign Het
Trrap C T 5: 144,790,309 (GRCm39) L3590F probably damaging Het
Tulp4 A G 17: 6,189,387 (GRCm39) T70A possibly damaging Het
Vcp G C 4: 42,986,201 (GRCm39) A297G probably benign Het
Vwf T A 6: 125,603,234 (GRCm39) H861Q probably benign Het
Wdr64 T C 1: 175,599,751 (GRCm39) I536T probably benign Het
Zfp850 T C 7: 27,689,698 (GRCm39) N170S probably benign Het
Zfp87 G A 13: 74,524,544 (GRCm39) probably benign Het
Other mutations in Dnai2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01359:Dnai2 APN 11 114,642,614 (GRCm39) missense probably benign 0.37
IGL01548:Dnai2 APN 11 114,643,768 (GRCm39) missense probably damaging 1.00
IGL02719:Dnai2 APN 11 114,642,737 (GRCm39) missense probably damaging 1.00
IGL03236:Dnai2 APN 11 114,648,075 (GRCm39) unclassified probably benign
R0096:Dnai2 UTSW 11 114,645,158 (GRCm39) missense probably benign 0.04
R0096:Dnai2 UTSW 11 114,645,158 (GRCm39) missense probably benign 0.04
R0305:Dnai2 UTSW 11 114,643,720 (GRCm39) missense probably benign 0.09
R0472:Dnai2 UTSW 11 114,636,015 (GRCm39) splice site probably benign
R1756:Dnai2 UTSW 11 114,641,206 (GRCm39) missense probably benign 0.02
R1861:Dnai2 UTSW 11 114,643,777 (GRCm39) missense possibly damaging 0.56
R1916:Dnai2 UTSW 11 114,623,749 (GRCm39) missense possibly damaging 0.88
R1981:Dnai2 UTSW 11 114,623,755 (GRCm39) missense probably damaging 1.00
R1983:Dnai2 UTSW 11 114,626,682 (GRCm39) splice site probably null
R2430:Dnai2 UTSW 11 114,648,012 (GRCm39) unclassified probably benign
R2510:Dnai2 UTSW 11 114,647,993 (GRCm39) unclassified probably benign
R3001:Dnai2 UTSW 11 114,641,297 (GRCm39) missense probably damaging 1.00
R3002:Dnai2 UTSW 11 114,641,297 (GRCm39) missense probably damaging 1.00
R3113:Dnai2 UTSW 11 114,642,756 (GRCm39) splice site probably null
R3803:Dnai2 UTSW 11 114,629,551 (GRCm39) missense probably benign
R3874:Dnai2 UTSW 11 114,623,781 (GRCm39) missense probably damaging 1.00
R4853:Dnai2 UTSW 11 114,635,917 (GRCm39) missense probably benign 0.03
R5267:Dnai2 UTSW 11 114,631,293 (GRCm39) missense probably benign 0.02
R6008:Dnai2 UTSW 11 114,643,816 (GRCm39) missense probably benign 0.01
R6024:Dnai2 UTSW 11 114,643,734 (GRCm39) missense possibly damaging 0.85
R6819:Dnai2 UTSW 11 114,635,917 (GRCm39) missense probably benign 0.00
R7053:Dnai2 UTSW 11 114,629,521 (GRCm39) missense probably damaging 1.00
R7143:Dnai2 UTSW 11 114,645,076 (GRCm39) missense possibly damaging 0.86
R7208:Dnai2 UTSW 11 114,647,988 (GRCm39) missense unknown
R7275:Dnai2 UTSW 11 114,648,054 (GRCm39) missense unknown
R7463:Dnai2 UTSW 11 114,645,232 (GRCm39) missense probably benign 0.07
R7779:Dnai2 UTSW 11 114,645,235 (GRCm39) missense possibly damaging 0.50
R7899:Dnai2 UTSW 11 114,629,456 (GRCm39) missense probably benign 0.21
R8443:Dnai2 UTSW 11 114,645,275 (GRCm39) missense unknown
R8944:Dnai2 UTSW 11 114,641,302 (GRCm39) missense possibly damaging 0.58
R9081:Dnai2 UTSW 11 114,629,493 (GRCm39) missense probably damaging 0.97
R9182:Dnai2 UTSW 11 114,623,839 (GRCm39) missense probably benign 0.17
R9335:Dnai2 UTSW 11 114,625,489 (GRCm39) missense probably benign 0.01
R9380:Dnai2 UTSW 11 114,635,989 (GRCm39) missense probably benign 0.12
RF012:Dnai2 UTSW 11 114,641,242 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTCTGGCATAGATTCTCCTGCACA -3'
(R):5'- AGCATAGGCCCTCAAAGAACCTGAT -3'

Sequencing Primer
(F):5'- gcgacccatgtccatagaag -3'
(R):5'- CTATTGGCTCAAGGTTACCCAGG -3'
Posted On 2013-07-30