Mutagenetix > Incidental Mutation

Incidental Mutation 'R8096:Dynlrb2'

630201

Institutional Source

Beutler Lab

Gene Symbol

Dynlrb2

Ensembl Gene

ENSMUSG00000034467

Gene Name

dynein light chain roadblock-type 2

Synonyms

Dncl2b, 1700009A04Rik, DNLC2B

MMRRC Submission

067528-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.188) question?

Stock #

R8096 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

117231754-117242654 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 117234256 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 7 (T7A)

Ref Sequence

ENSEMBL: ENSMUSP00000077301 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078170] [ENSMUST00000213007]

AlphaFold

Q9DAJ5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078170
AA Change: T7A

PolyPhen 2 Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000077301
Gene: ENSMUSG00000034467
AA Change: T7A

Domain	Start	End	E-Value	Type
Robl_LC7	4	92	7.29e-22	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213007
AA Change: T7A

PolyPhen 2 Score 0.836 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.1%
20x: 97.3%

Validation Efficiency

98% (44/45)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acin1	G	A	14: 54,882,726 (GRCm39)	A999V	possibly damaging	Het
Actn4	A	G	7: 28,594,008 (GRCm39)	I833T	possibly damaging	Het
Actn4	C	A	7: 28,601,338 (GRCm39)	R470L	probably damaging	Het
Adgre4	T	A	17: 56,127,700 (GRCm39)	I580N	probably damaging	Het
Arid5b	T	A	10: 68,021,982 (GRCm39)	T203S	probably benign	Het
Astn1	A	G	1: 158,436,890 (GRCm39)	Y824C	probably damaging	Het
Cacna2d3	A	G	14: 28,825,657 (GRCm39)	V506A	possibly damaging	Het
Cdk17	T	G	10: 93,052,229 (GRCm39)	M103R	probably damaging	Het
Clca3a1	T	A	3: 144,455,446 (GRCm39)	E449V	probably damaging	Het
Cux2	A	G	5: 122,007,160 (GRCm39)	Y834H	possibly damaging	Het
Ggcx	G	A	6: 72,406,976 (GRCm39)	R704Q	probably benign	Het
Gpr87	A	T	3: 59,087,229 (GRCm39)	L92Q	possibly damaging	Het
Grik1	C	T	16: 87,803,355 (GRCm39)	G279E		Het
Igsf10	G	T	3: 59,236,380 (GRCm39)	T1267N	probably damaging	Het
Mrc2	G	T	11: 105,234,333 (GRCm39)	R951L	probably damaging	Het
Muc4	T	A	16: 32,575,764 (GRCm39)	S1755T	unknown	Het
Muc5b	T	C	7: 141,403,292 (GRCm39)	V751A	unknown	Het
Or10a3	A	T	7: 108,480,248 (GRCm39)	C188*	probably null	Het
Or1l4	T	A	2: 37,092,078 (GRCm39)	V275E	probably damaging	Het
Or8u9	T	A	2: 86,002,056 (GRCm39)	Y35F	probably damaging	Het
Pclo	A	G	5: 14,762,975 (GRCm39)	Y531C		Het
Pigr	A	G	1: 130,774,247 (GRCm39)	E409G	probably damaging	Het
Pira1	C	G	7: 3,740,319 (GRCm39)	A301P	probably damaging	Het
Rsph14	T	A	10: 74,795,493 (GRCm39)	I231F	possibly damaging	Het
Ryr1	A	G	7: 28,708,626 (GRCm39)	S4812P	unknown	Het
Scgb2b24	T	A	7: 33,438,646 (GRCm39)		probably null	Het
Scn2a	T	A	2: 65,594,366 (GRCm39)	H1738Q	probably damaging	Het
Scrib	A	T	15: 75,934,558 (GRCm39)	D678E	probably benign	Het
Slc39a8	T	C	3: 135,590,417 (GRCm39)	F370S	probably damaging	Het
Sphkap	A	T	1: 83,255,279 (GRCm39)	D823E	probably damaging	Het
Srrm3	T	A	5: 135,898,094 (GRCm39)	I555N	unknown	Het
Stx19	A	C	16: 62,642,524 (GRCm39)	E113D	possibly damaging	Het
Tex30	A	T	1: 44,127,663 (GRCm39)	Y91N	probably damaging	Het
Tnfsf13	A	G	11: 69,575,983 (GRCm39)	C35R	probably damaging	Het
Tnik	G	A	3: 28,715,927 (GRCm39)	M1180I	possibly damaging	Het
Tnn	C	T	1: 159,950,411 (GRCm39)	A732T	probably damaging	Het
Tpra1	C	T	6: 88,888,699 (GRCm39)	Q294*	probably null	Het
Trim24	G	T	6: 37,935,592 (GRCm39)	S895I	probably benign	Het
Trim68	A	G	7: 102,327,649 (GRCm39)	S435P	probably damaging	Het
Vrtn	C	T	12: 84,696,809 (GRCm39)	R520C	probably damaging	Het
Zfp280d	T	C	9: 72,226,560 (GRCm39)	C335R	probably damaging	Het
Zfp958	G	T	8: 4,663,273 (GRCm39)		probably benign	Het

Other mutations in Dynlrb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00836:Dynlrb2	APN	8	117,241,572 (GRCm39)	missense	probably benign	0.09
IGL02150:Dynlrb2	APN	8	117,242,449 (GRCm39)	missense	probably benign	0.00
IGL03219:Dynlrb2	APN	8	117,241,635 (GRCm39)	missense	probably benign	0.00
R0938:Dynlrb2	UTSW	8	117,241,707 (GRCm39)	splice site	probably null
R2038:Dynlrb2	UTSW	8	117,241,549 (GRCm39)	missense	possibly damaging	0.81
R5120:Dynlrb2	UTSW	8	117,242,437 (GRCm39)	missense	possibly damaging	0.90
R6154:Dynlrb2	UTSW	8	117,242,428 (GRCm39)	missense	probably benign	0.05
R6807:Dynlrb2	UTSW	8	117,234,299 (GRCm39)	missense	probably benign
R7365:Dynlrb2	UTSW	8	117,241,696 (GRCm39)	missense	probably benign	0.03
R7465:Dynlrb2	UTSW	8	117,241,696 (GRCm39)	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- TGCAAGATGGGGCTTCCTAC -3'
(R):5'- AAGTAACTGCTAAAGCTGACACAG -3'

Sequencing Primer
(F):5'- AAGATGGGGCTTCCTACACAGTC -3'
(R):5'- CACAGACAAAACATGGTTTTAAGTCC -3'

Posted On

2020-06-30