Incidental Mutation 'R0015:Dync1i2'
ID 216010
Institutional Source Beutler Lab
Gene Symbol Dync1i2
Ensembl Gene ENSMUSG00000027012
Gene Name dynein cytoplasmic 1 intermediate chain 2
Synonyms 3110079H08Rik, Dncic2
MMRRC Submission 038310-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.967) question?
Stock # R0015 (G1)
Quality Score 32
Status Validated
Chromosome 2
Chromosomal Location 71042050-71093647 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 71044828 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 13 (R13S)
Ref Sequence ENSEMBL: ENSMUSP00000107772 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081710] [ENSMUST00000100028] [ENSMUST00000112136] [ENSMUST00000112138] [ENSMUST00000112139] [ENSMUST00000112140] [ENSMUST00000112144] [ENSMUST00000112142]
AlphaFold O88487
Predicted Effect probably damaging
Transcript: ENSMUST00000081710
AA Change: R13S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000080410
Gene: ENSMUSG00000027012
AA Change: R13S

DomainStartEndE-ValueType
coiled coil region 1 67 N/A INTRINSIC
low complexity region 73 91 N/A INTRINSIC
Pfam:Dynein_IC2 106 138 1.1e-20 PFAM
low complexity region 155 169 N/A INTRINSIC
Blast:WD40 243 291 3e-26 BLAST
WD40 296 335 5.55e-1 SMART
WD40 342 385 7.16e-1 SMART
WD40 439 484 7.39e-3 SMART
WD40 487 527 7.28e-2 SMART
WD40 532 572 8.91e-1 SMART
low complexity region 593 607 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000100028
AA Change: R13S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097605
Gene: ENSMUSG00000027012
AA Change: R13S

DomainStartEndE-ValueType
coiled coil region 1 67 N/A INTRINSIC
low complexity region 73 91 N/A INTRINSIC
Pfam:Dynein_IC2 126 158 2.8e-21 PFAM
low complexity region 175 189 N/A INTRINSIC
Blast:WD40 263 311 4e-26 BLAST
WD40 316 355 5.55e-1 SMART
WD40 362 405 7.16e-1 SMART
WD40 459 504 7.39e-3 SMART
WD40 507 547 7.28e-2 SMART
WD40 552 592 8.91e-1 SMART
low complexity region 613 627 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000112136
AA Change: R13S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107764
Gene: ENSMUSG00000027012
AA Change: R13S

DomainStartEndE-ValueType
coiled coil region 1 67 N/A INTRINSIC
low complexity region 83 97 N/A INTRINSIC
Pfam:Dynein_IC2 132 164 2.6e-21 PFAM
low complexity region 181 195 N/A INTRINSIC
Blast:WD40 269 317 5e-26 BLAST
WD40 322 361 5.55e-1 SMART
WD40 368 411 7.16e-1 SMART
WD40 465 510 7.39e-3 SMART
WD40 513 553 7.28e-2 SMART
WD40 558 598 8.91e-1 SMART
low complexity region 618 632 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000112138
AA Change: R13S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107766
Gene: ENSMUSG00000027012
AA Change: R13S

DomainStartEndE-ValueType
coiled coil region 1 67 N/A INTRINSIC
low complexity region 73 91 N/A INTRINSIC
Pfam:Dynein_IC2 106 138 1.1e-20 PFAM
low complexity region 155 169 N/A INTRINSIC
Blast:WD40 243 291 3e-26 BLAST
WD40 296 335 5.55e-1 SMART
WD40 342 385 7.16e-1 SMART
WD40 439 484 7.39e-3 SMART
WD40 487 527 7.28e-2 SMART
WD40 532 572 8.91e-1 SMART
low complexity region 593 607 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000112139
AA Change: R13S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107767
Gene: ENSMUSG00000027012
AA Change: R13S

DomainStartEndE-ValueType
coiled coil region 1 67 N/A INTRINSIC
low complexity region 73 91 N/A INTRINSIC
Pfam:Dynein_IC2 106 138 4.5e-21 PFAM
low complexity region 155 169 N/A INTRINSIC
Blast:WD40 243 291 3e-26 BLAST
WD40 296 335 5.55e-1 SMART
WD40 342 385 7.16e-1 SMART
WD40 439 484 7.39e-3 SMART
WD40 487 527 7.28e-2 SMART
WD40 532 572 8.91e-1 SMART
low complexity region 592 606 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000112140
AA Change: R13S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107768
Gene: ENSMUSG00000027012
AA Change: R13S

DomainStartEndE-ValueType
coiled coil region 1 67 N/A INTRINSIC
low complexity region 83 97 N/A INTRINSIC
Pfam:Dynein_IC2 132 164 2.6e-21 PFAM
low complexity region 181 195 N/A INTRINSIC
Blast:WD40 269 317 4e-26 BLAST
WD40 322 361 5.55e-1 SMART
WD40 368 411 7.16e-1 SMART
WD40 465 510 7.39e-3 SMART
WD40 513 553 7.28e-2 SMART
WD40 558 598 8.91e-1 SMART
low complexity region 619 633 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000112144
AA Change: R13S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107772
Gene: ENSMUSG00000027012
AA Change: R13S

DomainStartEndE-ValueType
coiled coil region 1 67 N/A INTRINSIC
low complexity region 83 97 N/A INTRINSIC
Pfam:Dynein_IC2 133 163 6.5e-19 PFAM
low complexity region 181 195 N/A INTRINSIC
Blast:WD40 269 317 4e-26 BLAST
WD40 322 361 5.55e-1 SMART
WD40 368 411 7.16e-1 SMART
WD40 465 510 7.39e-3 SMART
WD40 513 553 7.28e-2 SMART
WD40 558 598 8.91e-1 SMART
low complexity region 619 633 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000112142
AA Change: R13S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107770
Gene: ENSMUSG00000027012
AA Change: R13S

DomainStartEndE-ValueType
coiled coil region 1 67 N/A INTRINSIC
low complexity region 73 91 N/A INTRINSIC
Pfam:Dynein_IC2 126 158 2.8e-21 PFAM
low complexity region 175 189 N/A INTRINSIC
Blast:WD40 263 311 4e-26 BLAST
WD40 316 355 5.55e-1 SMART
WD40 362 405 7.16e-1 SMART
WD40 459 504 7.39e-3 SMART
WD40 507 547 7.28e-2 SMART
WD40 552 592 8.91e-1 SMART
low complexity region 613 627 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149735
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141619
Meta Mutation Damage Score 0.1320 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.2%
Validation Efficiency 97% (71/73)
MGI Phenotype PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit a trend towards slight locomotor deficit. [provided by MGI curators]
Allele List at MGI

All alleles(50) : Targeted, other(2) Gene trapped(48)

Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A130050O07Rik A G 1: 137,856,394 (GRCm39) Y23C unknown Het
Adcy3 G A 12: 4,245,260 (GRCm39) probably null Het
Aldh6a1 G A 12: 84,488,554 (GRCm39) L86F probably damaging Het
Arl10 G T 13: 54,723,770 (GRCm39) probably benign Het
Armc3 A G 2: 19,301,132 (GRCm39) probably null Het
Astn2 T G 4: 66,184,619 (GRCm39) probably null Het
Cacna1d G A 14: 29,836,928 (GRCm39) T804I probably benign Het
Ccny A C 18: 9,316,682 (GRCm39) probably benign Het
Cdh5 C T 8: 104,867,559 (GRCm39) T612I probably benign Het
Cfap58 A G 19: 48,017,539 (GRCm39) M800V probably benign Het
Clrn1 A T 3: 58,753,848 (GRCm39) I171K probably damaging Het
Cnp T A 11: 100,469,734 (GRCm39) probably null Het
Col12a1 T C 9: 79,558,667 (GRCm39) T1933A probably damaging Het
Cplane1 G A 15: 8,215,668 (GRCm39) R408H probably damaging Het
Cwf19l2 A G 9: 3,454,666 (GRCm39) S660G probably benign Het
Eps8l1 A T 7: 4,480,556 (GRCm39) probably benign Het
Espn T C 4: 152,223,609 (GRCm39) T188A possibly damaging Het
F2 T C 2: 91,460,952 (GRCm39) E260G probably benign Het
Fat4 T A 3: 39,036,652 (GRCm39) S3435T probably damaging Het
Fchsd1 A G 18: 38,096,012 (GRCm39) C533R probably benign Het
Fstl5 G A 3: 76,229,498 (GRCm39) V100M probably damaging Het
Gls2 T G 10: 128,045,219 (GRCm39) L572R probably damaging Het
Gm20939 A T 17: 95,184,196 (GRCm39) E281D probably benign Het
Gpr35 T G 1: 92,910,954 (GRCm39) L222W probably damaging Het
Hsf5 C A 11: 87,548,161 (GRCm39) H615N probably benign Het
Id2 C T 12: 25,145,802 (GRCm39) D70N probably damaging Het
Ints2 T C 11: 86,140,113 (GRCm39) T240A probably damaging Het
Kcnn3 A C 3: 89,570,080 (GRCm39) D631A probably damaging Het
Klhdc8a A G 1: 132,230,743 (GRCm39) T203A probably damaging Het
Lama4 C T 10: 38,951,432 (GRCm39) T1059M possibly damaging Het
Lgals8 A G 13: 12,462,179 (GRCm39) L226P probably damaging Het
Lifr T A 15: 7,217,667 (GRCm39) probably null Het
Lonp1 T A 17: 56,925,406 (GRCm39) Q462L probably benign Het
Lypd1 A G 1: 125,838,175 (GRCm39) V48A possibly damaging Het
Mapkapk2 A G 1: 131,025,063 (GRCm39) I67T possibly damaging Het
Mbd3l1 A T 9: 18,396,154 (GRCm39) D93V probably benign Het
Mdh1b T C 1: 63,760,959 (GRCm39) probably benign Het
Myh7b C T 2: 155,464,206 (GRCm39) P569L probably damaging Het
Ncapd3 C A 9: 26,963,105 (GRCm39) A470E probably damaging Het
Ndrg2 A G 14: 52,147,902 (GRCm39) probably benign Het
Nprl2 A T 9: 107,421,618 (GRCm39) I209F probably damaging Het
Ntrk1 A G 3: 87,699,057 (GRCm39) probably benign Het
Olfm2 T C 9: 20,580,037 (GRCm39) E268G probably damaging Het
Or8b37 T A 9: 37,958,963 (GRCm39) Y148* probably null Het
Pcf11 T A 7: 92,307,525 (GRCm39) H881L probably benign Het
Pde10a A G 17: 9,196,029 (GRCm39) D640G probably damaging Het
Pde9a G A 17: 31,605,330 (GRCm39) probably null Het
Pianp G T 6: 124,978,503 (GRCm39) G236V probably damaging Het
Polr2g A G 19: 8,771,016 (GRCm39) I160T probably damaging Het
Ppp1r3a A G 6: 14,717,660 (GRCm39) S1085P possibly damaging Het
Pter G A 2: 13,005,811 (GRCm39) G328D probably damaging Het
Rad51 T A 2: 118,946,808 (GRCm39) M5K probably benign Het
Rbm43 T A 2: 51,815,679 (GRCm39) I181F probably benign Het
Rgs12 T C 5: 35,180,120 (GRCm39) probably benign Het
Rnf213 A C 11: 119,332,432 (GRCm39) D2547A possibly damaging Het
Slc20a2 C A 8: 23,025,361 (GRCm39) A21E probably damaging Het
Stab2 A G 10: 86,679,481 (GRCm39) S2503P probably benign Het
Sv2b A T 7: 74,775,389 (GRCm39) F479L probably damaging Het
Sybu T C 15: 44,536,896 (GRCm39) R349G probably damaging Het
Tead3 T C 17: 28,560,325 (GRCm39) Y2C probably damaging Het
Tnrc6c T A 11: 117,612,284 (GRCm39) N307K probably damaging Het
Ubxn11 C G 4: 133,843,336 (GRCm39) probably null Het
Ust T C 10: 8,205,829 (GRCm39) probably benign Het
Vmn2r116 T A 17: 23,620,823 (GRCm39) N852K probably benign Het
Zgrf1 T C 3: 127,349,046 (GRCm39) probably benign Het
Other mutations in Dync1i2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00789:Dync1i2 APN 2 71,078,299 (GRCm39) splice site probably benign
IGL01609:Dync1i2 APN 2 71,077,352 (GRCm39) splice site probably benign
IGL02479:Dync1i2 APN 2 71,066,323 (GRCm39) missense probably damaging 1.00
IGL02545:Dync1i2 APN 2 71,093,095 (GRCm39) missense possibly damaging 0.95
3-1:Dync1i2 UTSW 2 71,078,172 (GRCm39) missense probably damaging 1.00
R0015:Dync1i2 UTSW 2 71,044,828 (GRCm39) missense probably damaging 1.00
R0437:Dync1i2 UTSW 2 71,058,169 (GRCm39) critical splice acceptor site probably null
R0555:Dync1i2 UTSW 2 71,044,862 (GRCm39) frame shift probably null
R0835:Dync1i2 UTSW 2 71,081,316 (GRCm39) missense probably damaging 1.00
R1146:Dync1i2 UTSW 2 71,058,164 (GRCm39) splice site probably benign
R1452:Dync1i2 UTSW 2 71,080,207 (GRCm39) splice site probably benign
R1662:Dync1i2 UTSW 2 71,081,323 (GRCm39) missense possibly damaging 0.87
R1765:Dync1i2 UTSW 2 71,079,759 (GRCm39) missense probably benign
R2059:Dync1i2 UTSW 2 71,080,197 (GRCm39) critical splice donor site probably null
R2145:Dync1i2 UTSW 2 71,044,907 (GRCm39) splice site probably benign
R2233:Dync1i2 UTSW 2 71,079,764 (GRCm39) nonsense probably null
R2234:Dync1i2 UTSW 2 71,079,764 (GRCm39) nonsense probably null
R2235:Dync1i2 UTSW 2 71,079,764 (GRCm39) nonsense probably null
R3151:Dync1i2 UTSW 2 71,064,060 (GRCm39) splice site probably benign
R3916:Dync1i2 UTSW 2 71,079,716 (GRCm39) missense probably damaging 1.00
R4653:Dync1i2 UTSW 2 71,078,199 (GRCm39) missense probably damaging 1.00
R4720:Dync1i2 UTSW 2 71,064,018 (GRCm39) missense probably damaging 1.00
R4920:Dync1i2 UTSW 2 71,077,668 (GRCm39) missense probably damaging 1.00
R5574:Dync1i2 UTSW 2 71,063,994 (GRCm39) missense probably benign 0.15
R5620:Dync1i2 UTSW 2 71,088,483 (GRCm39) missense probably benign 0.00
R5677:Dync1i2 UTSW 2 71,058,967 (GRCm39) missense probably benign 0.00
R5711:Dync1i2 UTSW 2 71,081,326 (GRCm39) missense probably benign 0.31
R6730:Dync1i2 UTSW 2 71,077,484 (GRCm39) missense probably benign 0.18
R6911:Dync1i2 UTSW 2 71,077,446 (GRCm39) missense probably benign
R7140:Dync1i2 UTSW 2 71,078,283 (GRCm39) missense probably benign 0.03
R7257:Dync1i2 UTSW 2 71,079,700 (GRCm39) missense possibly damaging 0.92
R7460:Dync1i2 UTSW 2 71,081,230 (GRCm39) missense probably damaging 0.97
R7808:Dync1i2 UTSW 2 71,081,178 (GRCm39) splice site probably null
R8187:Dync1i2 UTSW 2 71,044,865 (GRCm39) missense probably benign 0.13
R9340:Dync1i2 UTSW 2 71,093,019 (GRCm39) missense probably damaging 0.99
Z1176:Dync1i2 UTSW 2 71,078,228 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- GGGAACAAAACACAGACATCTCTGGTAA -3'
(R):5'- GGGAACTGCACTGGTACTGACGA -3'

Sequencing Primer
(F):5'- gagataggagaatcgccatgag -3'
(R):5'- GACGATATTATGGAATGCCCTGAC -3'
Posted On 2014-07-17