Mutagenetix > Incidental Mutation

Incidental Mutation 'R8025:Dync2i2'

617624

Institutional Source

Beutler Lab

Gene Symbol

Dync2i2

Ensembl Gene

ENSMUSG00000039715

Gene Name

dynein 2 intermediate chain 2

Synonyms

3200002I06Rik, Wdr34

MMRRC Submission

067464-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.449) question?

Stock #

R8025 (G1)

Quality Score

92.0077

Status

Validated

Chromosome

Chromosomal Location

29921563-29938891 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29938730 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 51 (Q51R)

Ref Sequence

ENSEMBL: ENSMUSP00000109340 (fasta)

Gene Model

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

AlphaFold

Q5U4F6

Predicted Effect

probably benign
Transcript: ENSMUST00000113711
AA Change: Q51R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000109340
Gene: ENSMUSG00000039715
AA Change: Q51R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (61/61)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579G24Rik	T	G	3: 79,536,635 (GRCm39)	L51R	probably damaging	Het
Actl7b	T	C	4: 56,741,137 (GRCm39)	T74A	probably damaging	Het
Aip	C	A	19: 4,165,346 (GRCm39)	A207S	probably benign	Het
AL732309.1	A	G	2: 25,136,331 (GRCm39)		probably benign	Het
Apcdd1	G	T	18: 63,069,979 (GRCm39)	C82F	probably damaging	Het
Arhgap42	T	G	9: 9,005,823 (GRCm39)	I736L	probably benign	Het
Baz1a	A	T	12: 54,955,921 (GRCm39)	I1056N	probably benign	Het
Bzw2	T	C	12: 36,157,517 (GRCm39)	E316G	probably damaging	Het
Carns1	A	T	19: 4,216,505 (GRCm39)	I559N	probably damaging	Het
Chrnb2	A	T	3: 89,668,649 (GRCm39)	V222E	probably damaging	Het
Cngb3	A	T	4: 19,280,960 (GRCm39)	N10Y	possibly damaging	Het
Dennd1b	A	G	1: 139,038,158 (GRCm39)	K267E		Het
Dhx32	A	G	7: 133,323,100 (GRCm39)	Y705H	probably damaging	Het
Dnah7c	G	A	1: 46,496,456 (GRCm39)	V114I	probably benign	Het
Dnah8	T	A	17: 30,960,311 (GRCm39)	C2229*	probably null	Het
Gm14401	T	C	2: 176,778,249 (GRCm39)	F112L	probably damaging	Het
Gm57858	C	A	3: 36,073,136 (GRCm39)	R382L	probably damaging	Het
Habp4	G	A	13: 64,322,645 (GRCm39)	R238H	probably benign	Het
Herpud1	A	G	8: 95,119,149 (GRCm39)	Y301C	probably damaging	Het
Itih5	G	A	2: 10,245,833 (GRCm39)	A641T	probably benign	Het
Kcns3	A	T	12: 11,141,846 (GRCm39)	N284K	probably damaging	Het
Mcrs1	G	A	15: 99,144,814 (GRCm39)	Q267*	probably null	Het
Midn	G	A	10: 79,991,126 (GRCm39)	A379T	probably benign	Het
Muc21	GTGCTGGATTCAGTGGTGGGCAGGGTGGGGGTAGAGCCTGAGCCACTGCTGGATGCAGTGGTGGTCAGGGTGGGTGTAGAGCCTGAGCCA	GTGCTGGATGCAGTGGTGGTCAGGGTGGGTGTAGAGCCTGAGCCA	17: 35,931,879 (GRCm39)		probably benign	Het
Odad2	A	T	18: 7,127,224 (GRCm39)	N996K	probably benign	Het
Or2d36	A	G	7: 106,746,930 (GRCm39)	M136V	possibly damaging	Het
Or4d2b	A	T	11: 87,779,777 (GRCm39)		probably null	Het
Or51f5	T	C	7: 102,424,463 (GRCm39)	V244A	probably benign	Het
Or5m11	A	T	2: 85,781,856 (GRCm39)	I150F	probably benign	Het
Or7e175	T	C	9: 20,048,928 (GRCm39)	V172A	probably benign	Het
Parpbp	T	C	10: 87,928,970 (GRCm39)	D490G	probably benign	Het
Pcbp2	T	A	15: 102,396,711 (GRCm39)	S262R	probably benign	Het
Pcdhgc5	T	C	18: 37,953,992 (GRCm39)	I422T	possibly damaging	Het
Pcsk5	T	A	19: 17,538,415 (GRCm39)		probably benign	Het
Plxna1	G	A	6: 89,308,254 (GRCm39)	R1278W	probably damaging	Het
Polr1c	A	G	17: 46,555,974 (GRCm39)	L162P	probably damaging	Het
Rasl2-9	A	G	7: 5,128,481 (GRCm39)	S150P	probably damaging	Het
Raver2	C	A	4: 100,960,162 (GRCm39)	S214*	probably null	Het
Rbpjl	C	A	2: 164,252,166 (GRCm39)		probably benign	Het
Rec114	T	G	9: 58,567,605 (GRCm39)	E127A	possibly damaging	Het
Recql5	C	A	11: 115,818,938 (GRCm39)	L209F	probably damaging	Het
Rgs11	T	C	17: 26,423,359 (GRCm39)		probably null	Het
Rgs3	C	A	4: 62,608,831 (GRCm39)	H366N	probably damaging	Het
Rnf148	C	T	6: 23,654,196 (GRCm39)	D267N	possibly damaging	Het
Scn1a	T	C	2: 66,148,557 (GRCm39)	N1007S	probably benign	Het
Sdcbp	A	G	4: 6,393,022 (GRCm39)	T220A	probably benign	Het
Sema5a	A	G	15: 32,548,928 (GRCm39)	N134S	probably benign	Het
Smg1	G	A	7: 117,806,212 (GRCm39)	Q210*	probably null	Het
Snx7	A	G	3: 117,626,526 (GRCm39)	V328A	probably benign	Het
Sult1c2	A	T	17: 54,138,837 (GRCm39)	S247T	probably benign	Het
Tceanc2	C	T	4: 106,996,997 (GRCm39)		probably null	Het
Tead3	T	C	17: 28,554,009 (GRCm39)	D141G	probably benign	Het
Tlcd5	T	A	9: 43,022,848 (GRCm39)	T169S	probably benign	Het
Ube3b	T	C	5: 114,546,270 (GRCm39)	M692T	probably damaging	Het
Vmn1r188	T	C	13: 22,272,084 (GRCm39)	F13L	probably benign	Het
Vmn2r3	A	G	3: 64,182,871 (GRCm39)	V276A	possibly damaging	Het
Vmn2r57	A	G	7: 41,076,183 (GRCm39)	I443T	probably benign	Het
Vps33a	T	C	5: 123,696,738 (GRCm39)	N305S	possibly damaging	Het
Vps33b	A	T	7: 79,940,094 (GRCm39)		probably benign	Het
Wdr72	T	A	9: 74,050,781 (GRCm39)	M91K	probably benign	Het
Xylb	T	C	9: 119,210,569 (GRCm39)	F351L	probably damaging	Het
Zan	C	T	5: 137,404,614 (GRCm39)	D3883N	unknown	Het
Zfp82	T	A	7: 29,756,278 (GRCm39)	H268L	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
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'- CCTAAGAGTTCTGTTGTCCTGG -3'
(R):5'- AACCCGCTAAGGTCACGTTC -3'

Sequencing Primer
(F):5'- GCAGGCGGATCTCTGAGTTC -3'
(R):5'- TAAGGTCACGTTCCAGGGC -3'

Posted On

2020-01-23