Incidental Mutation 'R8111:Dync2i2'
ID 630848
Institutional Source Beutler Lab
Gene Symbol Dync2i2
Ensembl Gene ENSMUSG00000039715
Gene Name dynein 2 intermediate chain 2
Synonyms 3200002I06Rik, Wdr34
MMRRC Submission 067540-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.544) question?
Stock # R8111 (G1)
Quality Score 208.009
Status Not validated
Chromosome 2
Chromosomal Location 29921563-29938891 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 29921859 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 501 (A501S)
Ref Sequence ENSEMBL: ENSMUSP00000109340 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046257] [ENSMUST00000095083] [ENSMUST00000100225] [ENSMUST00000113711] [ENSMUST00000113717] [ENSMUST00000113719] [ENSMUST00000129241]
AlphaFold Q5U4F6
Predicted Effect probably benign
Transcript: ENSMUST00000046257
SMART Domains Protein: ENSMUSP00000047792
Gene: ENSMUSG00000057738

DomainStartEndE-ValueType
SPEC 47 146 2.1e-30 SMART
SPEC 152 252 2.6e-35 SMART
SPEC 258 358 4.93e-36 SMART
SPEC 364 464 1.08e-27 SMART
SPEC 470 570 9.01e-30 SMART
SPEC 576 675 3.52e-32 SMART
SPEC 681 781 2.15e-36 SMART
SPEC 787 887 2.45e-40 SMART
SPEC 893 1068 1.18e-24 SMART
SH3 970 1025 8.24e-18 SMART
SPEC 1074 1210 6.52e-27 SMART
SPEC 1216 1316 1.44e-37 SMART
SPEC 1322 1422 4.43e-29 SMART
SPEC 1428 1528 7.54e-32 SMART
SPEC 1534 1635 9.65e-30 SMART
SPEC 1641 1741 2.32e-32 SMART
SPEC 1747 1847 6.98e-36 SMART
SPEC 1853 1953 1.53e-32 SMART
SPEC 1959 2060 6.23e-24 SMART
SPEC 2074 2174 2.08e-11 SMART
SPEC 2188 2289 1.07e-4 SMART
EFh 2307 2335 5.78e-7 SMART
EFh 2350 2378 3.85e-3 SMART
efhand_Ca_insen 2382 2451 6.74e-32 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000095083
SMART Domains Protein: ENSMUSP00000092697
Gene: ENSMUSG00000057738

DomainStartEndE-ValueType
SPEC 47 146 2.1e-30 SMART
SPEC 152 252 2.6e-35 SMART
SPEC 258 358 4.93e-36 SMART
SPEC 364 464 1.08e-27 SMART
SPEC 470 570 9.01e-30 SMART
SPEC 576 675 3.52e-32 SMART
SPEC 681 781 2.15e-36 SMART
SPEC 787 887 2.45e-40 SMART
SPEC 893 1088 1.56e-24 SMART
SH3 970 1025 8.24e-18 SMART
SPEC 1094 1230 6.52e-27 SMART
SPEC 1236 1336 1.44e-37 SMART
SPEC 1342 1442 4.43e-29 SMART
SPEC 1448 1548 7.54e-32 SMART
SPEC 1554 1655 9.65e-30 SMART
SPEC 1661 1761 2.32e-32 SMART
SPEC 1767 1867 6.98e-36 SMART
SPEC 1873 1973 1.53e-32 SMART
SPEC 1979 2080 6.23e-24 SMART
SPEC 2094 2194 2.08e-11 SMART
SPEC 2208 2309 1.07e-4 SMART
EFh 2327 2355 5.78e-7 SMART
EFh 2370 2398 3.85e-3 SMART
efhand_Ca_insen 2402 2471 6.74e-32 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000100225
SMART Domains Protein: ENSMUSP00000097797
Gene: ENSMUSG00000057738

DomainStartEndE-ValueType
SPEC 47 146 2.1e-30 SMART
SPEC 152 252 2.6e-35 SMART
SPEC 258 358 4.93e-36 SMART
SPEC 364 464 1.08e-27 SMART
SPEC 470 570 9.01e-30 SMART
SPEC 576 675 3.52e-32 SMART
SPEC 681 781 2.15e-36 SMART
SPEC 787 887 2.45e-40 SMART
SPEC 893 1088 1.56e-24 SMART
SH3 970 1025 8.24e-18 SMART
SPEC 1094 1230 6.52e-27 SMART
SPEC 1236 1336 1.44e-37 SMART
SPEC 1342 1442 4.43e-29 SMART
SPEC 1448 1548 7.54e-32 SMART
SPEC 1554 1660 2.06e-24 SMART
SPEC 1666 1766 2.32e-32 SMART
SPEC 1772 1872 6.98e-36 SMART
SPEC 1878 1978 1.53e-32 SMART
SPEC 1984 2085 6.23e-24 SMART
SPEC 2099 2199 2.08e-11 SMART
SPEC 2213 2314 1.07e-4 SMART
EFh 2332 2360 5.78e-7 SMART
EFh 2375 2403 3.85e-3 SMART
efhand_Ca_insen 2407 2476 6.74e-32 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000113711
AA Change: A501S

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000109340
Gene: ENSMUSG00000039715
AA Change: A501S

DomainStartEndE-ValueType
low complexity region 11 36 N/A INTRINSIC
low complexity region 90 100 N/A INTRINSIC
Blast:WD40 146 200 3e-28 BLAST
WD40 207 247 2e-1 SMART
WD40 256 300 3.42e1 SMART
Blast:WD40 323 364 8e-10 BLAST
WD40 382 422 1.66e-5 SMART
WD40 425 465 3.09e-1 SMART
WD40 470 512 4.18e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113717
SMART Domains Protein: ENSMUSP00000109346
Gene: ENSMUSG00000057738

DomainStartEndE-ValueType
SPEC 47 146 2.1e-30 SMART
SPEC 152 252 2.6e-35 SMART
SPEC 258 358 4.93e-36 SMART
SPEC 364 464 1.08e-27 SMART
SPEC 470 570 9.01e-30 SMART
SPEC 576 675 3.52e-32 SMART
SPEC 681 781 2.15e-36 SMART
SPEC 787 887 2.45e-40 SMART
SPEC 893 1068 1.18e-24 SMART
SH3 970 1025 8.24e-18 SMART
SPEC 1074 1210 6.52e-27 SMART
SPEC 1216 1316 1.44e-37 SMART
SPEC 1322 1422 4.43e-29 SMART
SPEC 1428 1528 7.54e-32 SMART
SPEC 1534 1640 2.06e-24 SMART
SPEC 1646 1746 2.32e-32 SMART
SPEC 1752 1852 6.98e-36 SMART
SPEC 1858 1958 1.53e-32 SMART
SPEC 1964 2065 6.23e-24 SMART
SPEC 2079 2179 2.08e-11 SMART
SPEC 2193 2294 1.07e-4 SMART
EFh 2312 2340 5.78e-7 SMART
EFh 2355 2383 3.85e-3 SMART
efhand_Ca_insen 2387 2456 6.74e-32 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113719
SMART Domains Protein: ENSMUSP00000109348
Gene: ENSMUSG00000057738

DomainStartEndE-ValueType
SPEC 47 146 2.1e-30 SMART
SPEC 152 252 2.6e-35 SMART
SPEC 258 358 4.93e-36 SMART
SPEC 364 464 1.08e-27 SMART
SPEC 470 570 9.01e-30 SMART
SPEC 576 675 3.52e-32 SMART
SPEC 681 781 2.15e-36 SMART
SPEC 787 887 2.45e-40 SMART
SPEC 893 1068 1.18e-24 SMART
SH3 970 1025 8.24e-18 SMART
SPEC 1074 1210 6.52e-27 SMART
SPEC 1216 1316 1.44e-37 SMART
SPEC 1322 1422 4.43e-29 SMART
SPEC 1428 1528 7.54e-32 SMART
SPEC 1534 1640 2.06e-24 SMART
SPEC 1646 1746 2.32e-32 SMART
SPEC 1752 1852 6.98e-36 SMART
SPEC 1858 1958 1.53e-32 SMART
SPEC 1964 2065 6.23e-24 SMART
SPEC 2079 2179 2.08e-11 SMART
SPEC 2193 2315 3.27e0 SMART
EFh 2333 2361 5.78e-7 SMART
EFh 2376 2404 3.85e-3 SMART
efhand_Ca_insen 2408 2477 6.74e-32 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000129241
SMART Domains Protein: ENSMUSP00000121116
Gene: ENSMUSG00000057738

DomainStartEndE-ValueType
Pfam:Spectrin 1 65 9.9e-10 PFAM
SPEC 78 178 2.08e-11 SMART
SPEC 192 314 3.27e0 SMART
EFh 332 360 5.78e-7 SMART
EFh 375 403 3.85e-3 SMART
efhand_Ca_insen 407 476 6.74e-32 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 93.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Defects in this gene are a cause of short-rib thoracic dysplasia 11 with or without polydactyly. [provided by RefSeq, Mar 2014]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik C T 14: 32,382,266 (GRCm39) W1233* probably null Het
4930590J08Rik A G 6: 91,894,691 (GRCm39) I247V probably benign Het
8030423J24Rik T A 13: 71,032,077 (GRCm39) C50S unknown Het
Adam29 T G 8: 56,324,585 (GRCm39) H623P probably benign Het
Adamts5 A G 16: 85,696,203 (GRCm39) V318A probably damaging Het
Ano3 T C 2: 110,614,058 (GRCm39) D215G possibly damaging Het
Ap3b2 A G 7: 81,113,530 (GRCm39) I893T unknown Het
Apob G A 12: 8,058,801 (GRCm39) A2428T probably benign Het
Armc3 T C 2: 19,301,674 (GRCm39) V660A probably benign Het
Atf7 G T 15: 102,471,769 (GRCm39) T42K probably damaging Het
Atg9a A T 1: 75,164,366 (GRCm39) I160N probably damaging Het
Atp2b1 T C 10: 98,832,786 (GRCm39) V429A possibly damaging Het
Bpifb3 A C 2: 153,764,609 (GRCm39) H167P probably benign Het
Cacna1f G T X: 7,487,326 (GRCm39) E921D probably damaging Het
Ccdc57 T A 11: 120,769,713 (GRCm39) L713F probably damaging Het
Chd1l C T 3: 97,494,526 (GRCm39) E385K possibly damaging Het
Csmd1 C T 8: 15,967,306 (GRCm39) V3186I probably benign Het
Dclre1c T A 2: 3,448,185 (GRCm39) D349E probably benign Het
Dlg1 C T 16: 31,661,620 (GRCm39) T657M possibly damaging Het
Dync2h1 T C 9: 7,148,688 (GRCm39) I919V probably benign Het
Eml5 A G 12: 98,758,773 (GRCm39) probably null Het
Epas1 C A 17: 87,125,860 (GRCm39) S286* probably null Het
Fat1 G A 8: 45,479,095 (GRCm39) V2714I possibly damaging Het
Fuca2 T C 10: 13,390,545 (GRCm39) M447T probably benign Het
Gm10800 CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA CAAGAAAACTGAAAATCA 2: 98,497,361 (GRCm39) probably null Het
Gm11110 A C 17: 57,410,427 (GRCm39) C24G probably null Het
Gm6176 T A 7: 21,750,593 (GRCm39) I113F probably benign Het
Gmcl1 G T 6: 86,698,408 (GRCm39) A163E probably damaging Het
Gpat2 G T 2: 127,275,777 (GRCm39) L518F probably damaging Het
Gpr137b T C 13: 13,533,991 (GRCm39) Y355C Het
Hgsnat C T 8: 26,458,440 (GRCm39) V195I probably benign Het
Hivep3 T A 4: 119,955,583 (GRCm39) S1300T probably damaging Het
Hs3st2 A T 7: 120,992,362 (GRCm39) H137L probably damaging Het
Iffo1 T C 6: 125,122,781 (GRCm39) S188P possibly damaging Het
Itih1 T C 14: 30,654,225 (GRCm39) D684G probably damaging Het
Lrba C A 3: 86,235,012 (GRCm39) N852K probably damaging Het
Lrriq4 T C 3: 30,709,930 (GRCm39) S425P possibly damaging Het
Mdn1 T A 4: 32,674,003 (GRCm39) S562T possibly damaging Het
Mex3a T C 3: 88,444,064 (GRCm39) V380A probably benign Het
Mgat4d A T 8: 84,094,776 (GRCm39) N271I probably damaging Het
Mmp24 T A 2: 155,649,345 (GRCm39) V254E possibly damaging Het
Muc16 T A 9: 18,503,925 (GRCm39) R6455S possibly damaging Het
Npffr1 T A 10: 61,459,128 (GRCm39) V127E probably damaging Het
Obox5 T A 7: 15,492,541 (GRCm39) N165K probably damaging Het
Or10g3b G A 14: 52,587,344 (GRCm39) T53M possibly damaging Het
Otulin A C 15: 27,606,381 (GRCm39) V344G probably damaging Het
Pappa A G 4: 65,180,229 (GRCm39) D1030G probably damaging Het
Pdzd2 G A 15: 12,373,592 (GRCm39) S2181L probably benign Het
Ppp2r3c C A 12: 55,344,634 (GRCm39) M111I probably benign Het
Prss37 T C 6: 40,494,747 (GRCm39) T13A probably benign Het
Sfi1 TCGC TC 11: 3,096,254 (GRCm39) probably null Het
Sgo2b T A 8: 64,396,138 (GRCm39) K39N probably damaging Het
Sike1 T C 3: 102,909,123 (GRCm39) *208Q probably null Het
Spire1 A G 18: 67,652,391 (GRCm39) S229P probably damaging Het
Tmem132b A G 5: 125,699,857 (GRCm39) I132V probably benign Het
Umodl1 T C 17: 31,190,792 (GRCm39) V213A probably damaging Het
Washc1 C G 17: 66,423,033 (GRCm39) Q116E probably benign Het
Zfp553 T A 7: 126,836,093 (GRCm39) C549* probably null Het
Zfp9 G A 6: 118,441,561 (GRCm39) P367L probably damaging Het
Other mutations in Dync2i2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02007:Dync2i2 APN 2 29,928,402 (GRCm39) missense probably benign 0.11
IGL02165:Dync2i2 APN 2 29,922,172 (GRCm39) missense probably benign
IGL02600:Dync2i2 APN 2 29,923,314 (GRCm39) missense possibly damaging 0.65
PIT1430001:Dync2i2 UTSW 2 29,922,147 (GRCm39) missense probably damaging 1.00
R0542:Dync2i2 UTSW 2 29,921,837 (GRCm39) missense probably damaging 0.98
R4065:Dync2i2 UTSW 2 29,922,820 (GRCm39) missense probably benign 0.03
R4067:Dync2i2 UTSW 2 29,922,820 (GRCm39) missense probably benign 0.03
R4750:Dync2i2 UTSW 2 29,923,932 (GRCm39) missense probably benign 0.00
R4907:Dync2i2 UTSW 2 29,922,472 (GRCm39) splice site probably null
R5008:Dync2i2 UTSW 2 29,922,781 (GRCm39) missense probably benign 0.14
R5253:Dync2i2 UTSW 2 29,922,375 (GRCm39) unclassified probably benign
R6014:Dync2i2 UTSW 2 29,921,763 (GRCm39) missense probably benign 0.01
R6456:Dync2i2 UTSW 2 29,922,779 (GRCm39) missense probably benign 0.01
R6789:Dync2i2 UTSW 2 29,923,284 (GRCm39) critical splice donor site probably null
R7024:Dync2i2 UTSW 2 29,928,278 (GRCm39) missense possibly damaging 0.61
R7319:Dync2i2 UTSW 2 29,928,341 (GRCm39) missense probably benign 0.00
R7576:Dync2i2 UTSW 2 29,938,790 (GRCm39) missense probably benign 0.00
R7640:Dync2i2 UTSW 2 29,921,780 (GRCm39) missense probably benign 0.00
R8025:Dync2i2 UTSW 2 29,938,730 (GRCm39) missense probably benign 0.00
R8273:Dync2i2 UTSW 2 29,921,903 (GRCm39) missense probably damaging 1.00
R8277:Dync2i2 UTSW 2 29,923,886 (GRCm39) missense probably benign
R8309:Dync2i2 UTSW 2 29,922,201 (GRCm39) missense probably damaging 1.00
R8724:Dync2i2 UTSW 2 29,923,961 (GRCm39) missense probably benign 0.11
R8732:Dync2i2 UTSW 2 29,922,220 (GRCm39) missense possibly damaging 0.82
R8837:Dync2i2 UTSW 2 29,928,374 (GRCm39) missense probably benign 0.03
R9149:Dync2i2 UTSW 2 29,923,953 (GRCm39) missense probably benign 0.26
R9190:Dync2i2 UTSW 2 29,922,211 (GRCm39) missense probably benign 0.05
R9557:Dync2i2 UTSW 2 29,922,534 (GRCm39) missense possibly damaging 0.47
Predicted Primers PCR Primer
(F):5'- CACAGCCATCCTGAAGCATG -3'
(R):5'- TGAAGATGGTGGCTCTCTGC -3'

Sequencing Primer
(F):5'- GGGCATCAGATCTCATTACGG -3'
(R):5'- CTGTGGTTTCTATGTGTTCTGAAC -3'
Posted On 2020-06-30