Incidental Mutation 'R4065:Dync2i2'
ID 316040
Institutional Source Beutler Lab
Gene Symbol Dync2i2
Ensembl Gene ENSMUSG00000039715
Gene Name dynein 2 intermediate chain 2
Synonyms 3200002I06Rik, Wdr34
MMRRC Submission 040972-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.449) question?
Stock # R4065 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 29921563-29938891 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 29922820 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 309 (L309P)
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 probably benign
Transcript: ENSMUST00000113711
AA Change: L309P

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000109340
Gene: ENSMUSG00000039715
AA Change: L309P

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 noncoding transcript
Transcript: ENSMUST00000124494
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139145
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143892
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152453
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201758
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
Meta Mutation Damage Score 0.5475 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933434E20Rik C T 3: 89,966,073 (GRCm39) R178* probably null Het
Abcc9 T C 6: 142,591,616 (GRCm39) E769G probably damaging Het
Adcy9 C A 16: 4,106,298 (GRCm39) V939F probably damaging Het
Atg2a T C 19: 6,308,396 (GRCm39) F1643S probably damaging Het
B430305J03Rik A G 3: 61,271,646 (GRCm39) probably benign Het
C2cd5 A G 6: 143,019,397 (GRCm39) I306T probably benign Het
Camk1d A T 2: 5,570,584 (GRCm39) F26I probably damaging Het
Cant1 G T 11: 118,298,823 (GRCm39) D313E probably benign Het
Dhx29 T A 13: 113,101,276 (GRCm39) probably null Het
Dnah12 A G 14: 26,492,405 (GRCm39) I1182V probably benign Het
Dnajc21 A G 15: 10,451,639 (GRCm39) probably null Het
Dnajc7 T C 11: 100,492,607 (GRCm39) Y38C probably benign Het
Dpyd AAT AATGTATATATAT 3: 118,690,738 (GRCm39) probably benign Het
Fat4 A T 3: 39,063,346 (GRCm39) H4434L probably benign Het
Fbxo16 T A 14: 65,508,278 (GRCm39) N31K probably damaging Het
Foxj3 T C 4: 119,467,206 (GRCm39) I183T probably benign Het
Fras1 T A 5: 96,918,542 (GRCm39) I3526K possibly damaging Het
Fshr T C 17: 89,293,394 (GRCm39) Y428C probably damaging Het
Gm11437 A G 11: 84,055,337 (GRCm39) V93A probably benign Het
Gm12258 C T 11: 58,749,352 (GRCm39) L176F probably benign Het
Grem1 A G 2: 113,580,033 (GRCm39) L156P probably damaging Het
Hecw1 T C 13: 14,491,016 (GRCm39) S659G probably damaging Het
Lamc3 C A 2: 31,835,270 (GRCm39) H1530Q probably benign Het
Ltn1 T C 16: 87,213,118 (GRCm39) Y481C possibly damaging Het
Man1c1 G C 4: 134,430,749 (GRCm39) P11R probably damaging Het
Mga T C 2: 119,777,483 (GRCm39) V1846A probably damaging Het
Mthfd1l A G 10: 3,982,242 (GRCm39) H483R probably damaging Het
Muc4 A T 16: 32,569,869 (GRCm39) I310F possibly damaging Het
Mvp A G 7: 126,595,489 (GRCm39) V207A probably damaging Het
Nsun2 T C 13: 69,760,579 (GRCm39) probably null Het
Or13a26 T C 7: 140,284,182 (GRCm39) L6P probably benign Het
Or8g55 T C 9: 39,784,718 (GRCm39) I49T possibly damaging Het
Pcnx4 T C 12: 72,603,134 (GRCm39) probably null Het
Plxna4 T A 6: 32,213,300 (GRCm39) K637* probably null Het
Ppm1d A G 11: 85,236,678 (GRCm39) T486A probably benign Het
Prb1a T A 6: 132,184,658 (GRCm39) Q325L unknown Het
Sf3a1 T A 11: 4,117,824 (GRCm39) F195L probably damaging Het
Spcs2 A G 7: 99,494,012 (GRCm39) I164T possibly damaging Het
Ssbp4 T C 8: 71,052,210 (GRCm39) T77A possibly damaging Het
Trpc5 T A X: 143,202,594 (GRCm39) R545* probably null Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Uhrf1 T A 17: 56,625,020 (GRCm39) I521N probably damaging Het
Uros A G 7: 133,304,057 (GRCm39) probably null Het
Usp47 A G 7: 111,652,623 (GRCm39) D100G probably benign Het
Utp6 T C 11: 79,837,073 (GRCm39) R337G probably damaging Het
Vcan T C 13: 89,828,006 (GRCm39) T3147A probably damaging Het
Wdfy3 C T 5: 102,070,313 (GRCm39) V1152I probably benign Het
Zfp654 G A 16: 64,606,288 (GRCm39) T638M possibly 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
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
R8111:Dync2i2 UTSW 2 29,921,859 (GRCm39) missense possibly damaging 0.82
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'- TGGAGAAGGCCACTGATGTC -3'
(R):5'- AATTCTTTACTCTTACAGCTGGGG -3'

Sequencing Primer
(F):5'- ACCTCAGTCTCTCCACGGG -3'
(R):5'- GGGGGTGAGGCTGATACTG -3'
Posted On 2015-05-15