Mutagenetix > Incidental Mutation

Incidental Mutation 'R8837:Dync2i2'

674200

Institutional Source

Beutler Lab

Gene Symbol

Dync2i2

Ensembl Gene

ENSMUSG00000039715

Gene Name

dynein 2 intermediate chain 2

Synonyms

3200002I06Rik, Wdr34

MMRRC Submission

068665-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.544) question?

Stock #

R8837 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29921563-29938891 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29928374 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 84 (D84G)

Ref Sequence

ENSEMBL: ENSMUSP00000109340 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113711]

AlphaFold

Q5U4F6

Predicted Effect

probably benign
Transcript: ENSMUST00000113711
AA Change: D84G

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000109340
Gene: ENSMUSG00000039715
AA Change: D84G

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.0773

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (59/59)

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	G	5: 8,986,873 (GRCm39)	F764C	probably damaging	Het
Aff1	A	G	5: 103,982,078 (GRCm39)	D739G	possibly damaging	Het
Atosb	A	G	4: 43,034,531 (GRCm39)	S355P	probably damaging	Het
Atp1a3	T	C	7: 24,677,980 (GRCm39)	Y1012C	probably damaging	Het
Btbd10	T	C	7: 112,929,133 (GRCm39)	T206A	probably benign	Het
Capn8	G	T	1: 182,456,199 (GRCm39)	A650S	possibly damaging	Het
Catsper1	A	C	19: 5,386,070 (GRCm39)	N101T	probably damaging	Het
Cdh23	A	C	10: 60,160,755 (GRCm39)	S2070R	probably benign	Het
Cep350	A	G	1: 155,737,518 (GRCm39)	V2775A	probably benign	Het
Clybl	G	A	14: 122,419,194 (GRCm39)		probably null	Het
Cog4	T	A	8: 111,579,004 (GRCm39)	N148K	probably benign	Het
Dbnl	G	A	11: 5,741,839 (GRCm39)	G44D	possibly damaging	Het
Dgcr2	A	T	16: 17,667,630 (GRCm39)	N276K	possibly damaging	Het
Dnah9	T	A	11: 65,746,060 (GRCm39)	T4018S	possibly damaging	Het
Dock3	A	G	9: 106,774,539 (GRCm39)	L72P	probably benign	Het
Fabp4	T	C	3: 10,271,105 (GRCm39)	T51A	probably benign	Het
Fars2	T	A	13: 36,430,409 (GRCm39)	I279N	probably damaging	Het
Fas	A	T	19: 34,296,049 (GRCm39)	Q164L	probably benign	Het
Focad	A	G	4: 88,072,905 (GRCm39)	K107E	probably damaging	Het
Gga3	G	A	11: 115,479,305 (GRCm39)	S338L	probably benign	Het
Grip1	A	G	10: 119,765,940 (GRCm39)	R91G	probably damaging	Het
Igkv3-7	A	G	6: 70,584,942 (GRCm39)	D94G	possibly damaging	Het
Kank3	G	C	17: 34,036,627 (GRCm39)	R165P	probably damaging	Het
Kmt2d	A	T	15: 98,762,048 (GRCm39)	L434Q	unknown	Het
Krt18	A	G	15: 101,938,265 (GRCm39)	T163A	possibly damaging	Het
Lcn10	T	A	2: 25,575,298 (GRCm39)		probably benign	Het
Lrrc37a	G	T	11: 103,394,795 (GRCm39)	P210Q	probably benign	Het
Lyst	T	A	13: 13,852,548 (GRCm39)	S2183T	probably benign	Het
Mga	G	A	2: 119,769,272 (GRCm39)		probably benign	Het
Myh9	G	A	15: 77,661,137 (GRCm39)	A818V	possibly damaging	Het
Or1j15	T	C	2: 36,458,703 (GRCm39)	I31T	probably benign	Het
Or1o3	G	T	17: 37,573,807 (GRCm39)	Y249*	probably null	Het
Or8b1	A	T	9: 38,399,597 (GRCm39)	I91F	probably benign	Het
Pde7b	A	G	10: 20,314,469 (GRCm39)		probably null	Het
Pik3cb	A	T	9: 98,936,117 (GRCm39)	Y772N	possibly damaging	Het
Ppl	C	G	16: 4,906,854 (GRCm39)	R1147P	probably damaging	Het
Prl3d2	A	T	13: 27,307,926 (GRCm39)	D69V	probably benign	Het
Psd3	A	G	8: 68,172,596 (GRCm39)	F871L	probably damaging	Het
Rlf	G	A	4: 121,045,432 (GRCm39)	P152S	probably benign	Het
Rpa1	T	C	11: 75,204,167 (GRCm39)	E270G	possibly damaging	Het
Scfd2	T	C	5: 74,691,656 (GRCm39)	T209A	probably benign	Het
Scn11a	A	G	9: 119,621,410 (GRCm39)	L669P	probably damaging	Het
Sec31b	A	T	19: 44,506,106 (GRCm39)	C933*	probably null	Het
Serpina3k	G	T	12: 104,309,292 (GRCm39)	M245I	probably benign	Het
Slc9a3	T	A	13: 74,305,823 (GRCm39)	I280N	probably damaging	Het
Soat1	A	G	1: 156,261,772 (GRCm39)	V412A	probably damaging	Het
Spata31d1a	A	T	13: 59,850,596 (GRCm39)	S511T	possibly damaging	Het
Sphkap	A	T	1: 83,253,384 (GRCm39)	V1455E	possibly damaging	Het
Spns1	G	A	7: 125,971,593 (GRCm39)	S319F	possibly damaging	Het
Tbxas1	G	T	6: 39,048,364 (GRCm39)	M403I		Het
Tln2	A	T	9: 67,157,866 (GRCm39)	C1158S	probably damaging	Het
Tnrc18	T	C	5: 142,778,811 (GRCm39)	T98A	possibly damaging	Het
Ttc23	T	C	7: 67,319,494 (GRCm39)	L118P	probably damaging	Het
Tyr	T	A	7: 87,087,223 (GRCm39)	I430L	probably damaging	Het
Uck2	A	G	1: 167,070,715 (GRCm39)	F5L	probably benign	Het
Ush2a	G	A	1: 188,485,847 (GRCm39)	V2986I	probably benign	Het
Vmn2r96	A	G	17: 18,802,888 (GRCm39)	D266G	probably benign	Het
Yrdc	A	G	4: 124,747,677 (GRCm39)	D213G	probably benign	Het
Zfp612	C	A	8: 110,815,603 (GRCm39)	T270K	probably damaging	Het

Other mutations in Dync2i2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- AGTTCACCTCATAGCCATCG -3'
(R):5'- AAGCCATCTTTCCAGGAAACG -3'

Sequencing Primer
(F):5'- ATCGAAGGCATGACTCTGC -3'
(R):5'- AAGACAGCTTCAGGAGTCTGCTC -3'

Posted On

2021-07-15