Mutagenetix > Incidental Mutation

Incidental Mutation 'R9496:Rmdn2'

717248

Institutional Source

Beutler Lab

Gene Symbol

Rmdn2

Ensembl Gene

ENSMUSG00000036368

Gene Name

regulator of microtubule dynamics 2

Synonyms

Fam82a1

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.142) question?

Stock #

R9496 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

79919292-80000621 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 79975425 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 305 (L305I)

Ref Sequence

ENSEMBL: ENSMUSP00000044543 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040368] [ENSMUST00000225357]

AlphaFold

Q8BSE0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040368
AA Change: L305I

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000044543
Gene: ENSMUSG00000036368
AA Change: L305I

Domain	Start	End	E-Value	Type
transmembrane domain	9	28	N/A	INTRINSIC
low complexity region	41	54	N/A	INTRINSIC
Blast:PAS	70	133	4e-16	BLAST
low complexity region	137	149	N/A	INTRINSIC
SCOP:d1hxia_	290	386	4e-5	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225357
AA Change: L305I

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000226004

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atg2a	A	T	19: 6,310,022 (GRCm39)	Q1735L	possibly damaging	Het
Brpf3	A	G	17: 29,040,453 (GRCm39)	D958G	probably benign	Het
Cacna1g	A	G	11: 94,356,711 (GRCm39)	F142L	probably benign	Het
Calcoco1	C	T	15: 102,619,876 (GRCm39)	A303T	probably benign	Het
Chat	C	A	14: 32,148,119 (GRCm39)	C306F	probably benign	Het
Ciita	T	G	16: 10,298,009 (GRCm39)	M1R	probably null	Het
Ckap2l	A	C	2: 129,112,595 (GRCm39)	S638A	probably benign	Het
Coro1c	C	T	5: 113,983,337 (GRCm39)	G397D	probably benign	Het
Cyb5r2	A	G	7: 107,353,954 (GRCm39)	V72A	probably damaging	Het
Cyp2t4	G	A	7: 26,854,717 (GRCm39)	V66M	possibly damaging	Het
Dcbld2	A	G	16: 58,271,164 (GRCm39)	T314A	probably benign	Het
Dcun1d4	T	G	5: 73,668,272 (GRCm39)	H37Q	probably damaging	Het
Dgkd	T	A	1: 87,857,464 (GRCm39)	S725R	probably benign	Het
Dhx29	T	C	13: 113,089,460 (GRCm39)	Y744H	probably damaging	Het
Ect2l	T	C	10: 18,004,885 (GRCm39)	N916S	probably damaging	Het
Ep400	T	C	5: 110,855,853 (GRCm39)	K1287E	unknown	Het
Epo	C	T	5: 137,482,401 (GRCm39)	V89I	probably benign	Het
Fbxw15	A	T	9: 109,397,291 (GRCm39)	I3N	probably benign	Het
Fcgr3	A	C	1: 170,879,386 (GRCm39)	Y219D	possibly damaging	Het
Fign	A	T	2: 63,809,253 (GRCm39)	C672*	probably null	Het
Fsip2	A	T	2: 82,793,062 (GRCm39)	R406S	probably benign	Het
Gli2	A	G	1: 118,764,425 (GRCm39)	V1242A	probably benign	Het
Gm10577	C	T	4: 100,877,745 (GRCm39)	C50Y	unknown	Het
Gm11568	GCTGCTGCCAGCCCTGCTGCCAGCCC	GCTGCTGCCAGCCCTGCTGCCAGCCCTGCTGCCAGCCC	11: 99,749,044 (GRCm39)		probably benign	Het
Grid1	T	C	14: 35,291,571 (GRCm39)	L826P	probably damaging	Het
Hmcn1	T	C	1: 150,579,971 (GRCm39)	D1922G	probably benign	Het
Itga2b	C	T	11: 102,358,629 (GRCm39)	C96Y	probably damaging	Het
Itih2	A	T	2: 10,106,984 (GRCm39)	I670N	probably benign	Het
Lypla1	A	T	1: 4,898,813 (GRCm39)		probably benign	Het
Mettl16	T	C	11: 74,707,696 (GRCm39)	S337P	possibly damaging	Het
Myh11	G	A	16: 14,048,616 (GRCm39)	Q564*	probably null	Het
Myrf	A	G	19: 10,193,840 (GRCm39)	F529L	probably benign	Het
Nell2	T	G	15: 95,194,097 (GRCm39)	I539L	probably benign	Het
Nfxl1	A	T	5: 72,685,502 (GRCm39)	V646E	possibly damaging	Het
Nin	T	C	12: 70,102,762 (GRCm39)	T289A		Het
Obsl1	C	T	1: 75,467,484 (GRCm39)	C1430Y	probably damaging	Het
Otog	T	C	7: 45,890,505 (GRCm39)	L18P	unknown	Het
Pkd1l1	C	A	11: 8,783,773 (GRCm39)		probably null	Het
Pum1	T	C	4: 130,446,664 (GRCm39)		probably null	Het
Rhbdl1	A	T	17: 26,055,371 (GRCm39)		probably null	Het
Scn3a	A	G	2: 65,312,493 (GRCm39)		probably null	Het
Shtn1	G	T	19: 58,963,457 (GRCm39)	S619R	probably damaging	Het
Smpd1	G	A	7: 105,205,202 (GRCm39)		probably null	Het
Tepsin	A	G	11: 119,982,357 (GRCm39)	L571S	probably damaging	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Tssk5	T	C	15: 76,258,856 (GRCm39)	D10G	probably benign	Het
Usp39	A	G	6: 72,302,759 (GRCm39)	Y432H	probably benign	Het
Vmn2r97	T	A	17: 19,149,227 (GRCm39)	V205D	probably damaging	Het
Vwa8	T	C	14: 79,258,122 (GRCm39)	V757A	probably benign	Het
Zc2hc1b	A	T	10: 13,044,540 (GRCm39)	F41Y	probably damaging	Het
Zfp1007	A	G	5: 109,823,924 (GRCm39)	S509P	probably damaging	Het
Zfp114	A	T	7: 23,880,463 (GRCm39)	S271C	possibly damaging	Het

Other mutations in Rmdn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01628:Rmdn2	APN	17	79,979,817 (GRCm39)	nonsense	probably null
R0052:Rmdn2	UTSW	17	79,957,760 (GRCm39)	missense	probably damaging	0.99
R0052:Rmdn2	UTSW	17	79,957,760 (GRCm39)	missense	probably damaging	0.99
R0127:Rmdn2	UTSW	17	79,977,998 (GRCm39)	missense	probably damaging	1.00
R0206:Rmdn2	UTSW	17	79,957,716 (GRCm39)	splice site	probably benign
R0440:Rmdn2	UTSW	17	79,975,384 (GRCm39)	missense	probably damaging	1.00
R0720:Rmdn2	UTSW	17	79,975,458 (GRCm39)	critical splice donor site	probably null
R1163:Rmdn2	UTSW	17	79,966,880 (GRCm39)	missense	probably benign	0.00
R3746:Rmdn2	UTSW	17	79,977,981 (GRCm39)	splice site	probably null
R4966:Rmdn2	UTSW	17	79,974,304 (GRCm39)	missense	probably damaging	1.00
R5137:Rmdn2	UTSW	17	79,975,418 (GRCm39)	missense	probably benign	0.02
R5259:Rmdn2	UTSW	17	79,975,446 (GRCm39)	missense	probably damaging	1.00
R6439:Rmdn2	UTSW	17	79,934,971 (GRCm39)	intron	probably benign
R6991:Rmdn2	UTSW	17	79,928,739 (GRCm39)	start gained	probably benign
R7046:Rmdn2	UTSW	17	79,928,808 (GRCm39)	missense	probably damaging	1.00
R7322:Rmdn2	UTSW	17	79,929,040 (GRCm39)	missense	probably damaging	1.00
R7541:Rmdn2	UTSW	17	79,935,297 (GRCm39)	missense
R8246:Rmdn2	UTSW	17	79,979,966 (GRCm39)	nonsense	probably null
R8359:Rmdn2	UTSW	17	79,935,580 (GRCm39)	missense
R8393:Rmdn2	UTSW	17	79,975,459 (GRCm39)	critical splice donor site	probably null
R8462:Rmdn2	UTSW	17	79,978,053 (GRCm39)	missense	probably damaging	1.00
R9472:Rmdn2	UTSW	17	79,989,096 (GRCm39)	missense	possibly damaging	0.74
R9549:Rmdn2	UTSW	17	79,935,339 (GRCm39)	missense
R9602:Rmdn2	UTSW	17	79,975,440 (GRCm39)	missense	probably damaging	1.00
R9617:Rmdn2	UTSW	17	79,928,790 (GRCm39)	missense	probably benign	0.27
R9698:Rmdn2	UTSW	17	79,957,729 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGTCACAGCTTCAGTTCCACG -3'
(R):5'- CTGCCGTTCCATGGAAAGATAAG -3'

Sequencing Primer
(F):5'- TTCAGTTCCACGGGCAC -3'
(R):5'- CCGTTCCATGGAAAGATAAGAACTGC -3'

Posted On

2022-07-18