Incidental Mutation 'R3113:Dnai2'
ID 263896
Institutional Source Beutler Lab
Gene Symbol Dnai2
Ensembl Gene ENSMUSG00000034706
Gene Name dynein axonemal intermediate chain 2
Synonyms C030015H18Rik, b2b3405Clo, Dnaic2
MMRRC Submission 040586-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.230) question?
Stock # R3113 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 114618234-114648715 bp(+) (GRCm39)
Type of Mutation splice site (9 bp from exon)
DNA Base Change (assembly) T to A at 114642756 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000114700 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069325] [ENSMUST00000069325] [ENSMUST00000092469] [ENSMUST00000092469] [ENSMUST00000141762] [ENSMUST00000141762]
AlphaFold A2AC93
Predicted Effect probably null
Transcript: ENSMUST00000069325
SMART Domains Protein: ENSMUSP00000065787
Gene: ENSMUSG00000034706

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 null
Transcript: ENSMUST00000069325
SMART Domains Protein: ENSMUSP00000065787
Gene: ENSMUSG00000034706

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 null
Transcript: ENSMUST00000092469
SMART Domains Protein: ENSMUSP00000090126
Gene: ENSMUSG00000034706

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 null
Transcript: ENSMUST00000092469
SMART Domains Protein: ENSMUSP00000090126
Gene: ENSMUSG00000034706

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 null
Transcript: ENSMUST00000141762
SMART Domains Protein: ENSMUSP00000114700
Gene: ENSMUSG00000034706

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 probably null
Transcript: ENSMUST00000141762
SMART Domains Protein: ENSMUSP00000114700
Gene: ENSMUSG00000034706

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 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (59/59)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik T A 10: 29,100,372 (GRCm39) Y248* probably null Het
Acta2 T C 19: 34,220,752 (GRCm39) I319V probably benign Het
Alox15 A T 11: 70,235,703 (GRCm39) N585K probably benign Het
Ank T A 15: 27,571,700 (GRCm39) I324N probably damaging Het
Ank1 A G 8: 23,574,813 (GRCm39) N99D probably damaging Het
As3mt T C 19: 46,703,717 (GRCm39) probably benign Het
Atg4b C T 1: 93,703,426 (GRCm39) probably benign Het
Atp2a1 A T 7: 126,047,541 (GRCm39) V705D probably damaging Het
Bves T C 10: 45,219,148 (GRCm39) V82A probably benign Het
Cad C A 5: 31,231,481 (GRCm39) H7Q possibly damaging Het
Carmil1 A G 13: 24,253,740 (GRCm39) V387A probably benign Het
Csnk2a1 T A 2: 152,105,134 (GRCm39) F181Y probably damaging Het
Cwc22 A T 2: 77,754,823 (GRCm39) probably benign Het
Ddx18 A G 1: 121,493,877 (GRCm39) S36P possibly damaging Het
Ehbp1l1 A T 19: 5,769,008 (GRCm39) M765K probably benign Het
Fitm2 T C 2: 163,311,511 (GRCm39) Y234C probably damaging Het
Flrt3 T C 2: 140,503,454 (GRCm39) E58G probably benign Het
Foxs1 A G 2: 152,774,156 (GRCm39) V299A probably benign Het
Galnt12 A G 4: 47,108,415 (GRCm39) N184S probably benign Het
Gata6 T C 18: 11,063,124 (GRCm39) L464P probably damaging Het
Gm17332 T C 11: 31,132,384 (GRCm39) T27A possibly damaging Het
Ifna11 A C 4: 88,738,220 (GRCm39) M9L probably benign Het
Ldb3 T A 14: 34,251,418 (GRCm39) *623L probably null Het
Lrrc27 A G 7: 138,798,223 (GRCm39) D106G probably damaging Het
Ly6f A G 15: 75,143,577 (GRCm39) N95D probably benign Het
Lyst A G 13: 13,844,512 (GRCm39) I1901V probably benign Het
Mboat2 A G 12: 24,932,718 (GRCm39) Y70C probably damaging Het
Mmut G A 17: 41,269,247 (GRCm39) G610D probably damaging Het
Mroh1 T A 15: 76,292,736 (GRCm39) probably benign Het
Muc5b A G 7: 141,399,871 (GRCm39) H448R unknown Het
Myh2 A G 11: 67,076,012 (GRCm39) N733S probably damaging Het
Nid2 G A 14: 19,828,111 (GRCm39) G516S probably benign Het
Nlrp1a A T 11: 71,014,491 (GRCm39) I253N probably damaging Het
Ocrl A G X: 47,022,304 (GRCm39) E258G probably benign Het
Or2w1 T A 13: 21,317,299 (GRCm39) M118K probably damaging Het
Or6c2 A T 10: 129,363,012 (GRCm39) R305S probably benign Het
Pak1 C A 7: 97,515,321 (GRCm39) S115* probably null Het
Pilrb1 C T 5: 137,853,195 (GRCm39) V203I possibly damaging Het
Ppfia2 T A 10: 106,742,256 (GRCm39) Y1016* probably null Het
Prmt3 C A 7: 49,431,760 (GRCm39) P121Q probably damaging Het
Rhox6 T A X: 36,916,507 (GRCm39) I116N possibly damaging Het
Saxo2 A C 7: 82,292,949 (GRCm39) F49L probably benign Het
Scn2a A C 2: 65,579,129 (GRCm39) D1488A possibly damaging Het
Scn5a T A 9: 119,314,738 (GRCm39) D1989V probably damaging Het
Sec31b C A 19: 44,506,624 (GRCm39) E905* probably null Het
Secisbp2l A T 2: 125,592,206 (GRCm39) F672I probably damaging Het
Slc22a23 C T 13: 34,367,058 (GRCm39) G650E probably damaging Het
Smu1 A G 4: 40,748,658 (GRCm39) F211L probably benign Het
Spef1l G T 7: 139,555,878 (GRCm39) probably benign Het
Tab1 C T 15: 80,032,461 (GRCm39) L23F probably benign Het
Thsd7b G A 1: 129,977,599 (GRCm39) C1078Y probably benign Het
Ttn A T 2: 76,644,542 (GRCm39) Y13071N probably damaging Het
Usp17ld A G 7: 102,899,870 (GRCm39) V354A probably benign Het
Usp31 A G 7: 121,278,736 (GRCm39) S210P probably damaging Het
Wdr12 T C 1: 60,126,221 (GRCm39) D198G probably benign Het
Wrap53 A G 11: 69,454,144 (GRCm39) V298A probably benign Het
Xirp2 A G 2: 67,340,491 (GRCm39) I911V probably benign Het
Zcchc2 T C 1: 105,918,752 (GRCm39) M78T unknown 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
R0711:Dnai2 UTSW 11 114,645,158 (GRCm39) missense probably benign 0.04
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
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'- TCAGAGACCTTGACCCCTAG -3'
(R):5'- TCAGGTGCACATATTAAGAGCC -3'

Sequencing Primer
(F):5'- AGACCTTGACCCCTAGGAGAG -3'
(R):5'- TGCACATATTAAGAGCCAAGAGC -3'
Posted On 2015-02-05