Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02136:Rpusd2'

281343

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rpusd2

Ensembl Gene

ENSMUSG00000027324

Gene Name

RNA pseudouridylate synthase domain containing 2

Synonyms

BB231107, 4921503C21Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02136

Quality Score

Status

Chromosome

Chromosomal Location

118865271-118870250 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118868659 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 361 (F361L)

Ref Sequence

ENSEMBL: ENSMUSP00000028796 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028796]

AlphaFold

Q149F1

Predicted Effect

probably damaging
Transcript: ENSMUST00000028796
AA Change: F361L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000028796
Gene: ENSMUSG00000027324
AA Change: F361L

Domain	Start	End	E-Value	Type
Blast:S4	174	237	4e-28	BLAST
Pfam:PseudoU_synth_2	244	391	4e-34	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	G	T	1: 71,286,301 (GRCm39)	T2511K	probably damaging	Het
Acta2	T	A	19: 34,229,230 (GRCm39)	D53V	probably damaging	Het
Banf1	G	A	19: 5,415,098 (GRCm39)	A71V	probably benign	Het
Cacng5	A	T	11: 107,772,557 (GRCm39)	I97N	probably benign	Het
Clec14a	T	A	12: 58,315,415 (GRCm39)	E69V	probably damaging	Het
Cracr2a	T	C	6: 127,606,893 (GRCm39)		probably benign	Het
Dysf	A	G	6: 84,085,149 (GRCm39)	R845G	probably benign	Het
Dzip3	T	C	16: 48,747,945 (GRCm39)	N949S	possibly damaging	Het
Eprs1	T	G	1: 185,117,180 (GRCm39)	W408G	probably damaging	Het
Fgf14	G	A	14: 124,217,784 (GRCm39)	P240S	possibly damaging	Het
Fpgt	G	T	3: 154,798,989 (GRCm39)	A2E	probably benign	Het
Galntl5	T	A	5: 25,425,060 (GRCm39)	S392R	probably benign	Het
Gatd1	A	G	7: 140,988,873 (GRCm39)	*221Q	probably null	Het
Gcsam	T	A	16: 45,430,896 (GRCm39)	M1K	probably null	Het
Ksr2	A	G	5: 117,754,959 (GRCm39)	N351S	possibly damaging	Het
Map1a	T	C	2: 121,130,693 (GRCm39)	V503A	probably damaging	Het
Myl12a	T	A	17: 71,303,851 (GRCm39)	K9*	probably null	Het
Ncapg2	A	T	12: 116,424,203 (GRCm39)	M1129L	probably benign	Het
Or11g2	T	C	14: 50,855,708 (GRCm39)	S10P	possibly damaging	Het
Or8k41	T	C	2: 86,313,809 (GRCm39)	I92M	probably damaging	Het
Otof	T	C	5: 30,531,336 (GRCm39)	K1691E	possibly damaging	Het
Pdk4	A	T	6: 5,486,715 (GRCm39)	M353K	probably damaging	Het
Pkhd1	A	T	1: 20,345,839 (GRCm39)	W2730R	probably damaging	Het
Pkn2	T	A	3: 142,559,351 (GRCm39)	K58I	probably damaging	Het
Plk5	T	C	10: 80,199,001 (GRCm39)		probably null	Het
Prkcq	T	C	2: 11,265,479 (GRCm39)	F399L	probably benign	Het
Ptprz1	G	A	6: 22,972,821 (GRCm39)	V244M	probably damaging	Het
Rttn	T	A	18: 89,064,252 (GRCm39)	L1168I	possibly damaging	Het
S100a9	T	C	3: 90,600,075 (GRCm39)	H107R	probably benign	Het
Serpinb3a	T	A	1: 106,974,015 (GRCm39)	M299L	probably benign	Het
Slfn8	G	A	11: 82,894,291 (GRCm39)	Q783*	probably null	Het
Smc3	T	C	19: 53,624,147 (GRCm39)	I721T	probably benign	Het
Top2b	C	A	14: 16,407,103 (GRCm38)		probably benign	Het
Uvssa	T	A	5: 33,549,192 (GRCm39)	W351R	probably damaging	Het
Vmn2r107	G	T	17: 20,595,168 (GRCm39)	V574L	probably benign	Het
Wdr3	G	A	3: 100,046,041 (GRCm39)	R931*	probably null	Het

Other mutations in Rpusd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01729:Rpusd2	APN	2	118,865,837 (GRCm39)	missense	probably damaging	1.00
IGL02126:Rpusd2	APN	2	118,869,119 (GRCm39)	missense	probably damaging	0.98
PIT4618001:Rpusd2	UTSW	2	118,868,933 (GRCm39)	missense	possibly damaging	0.93
R0211:Rpusd2	UTSW	2	118,868,893 (GRCm39)	missense	probably benign
R0211:Rpusd2	UTSW	2	118,868,893 (GRCm39)	missense	probably benign
R1295:Rpusd2	UTSW	2	118,867,408 (GRCm39)	missense	probably benign	0.39
R1866:Rpusd2	UTSW	2	118,865,728 (GRCm39)	missense	probably benign	0.13
R2060:Rpusd2	UTSW	2	118,867,696 (GRCm39)	critical splice donor site	probably null
R2567:Rpusd2	UTSW	2	118,867,556 (GRCm39)	missense	probably damaging	1.00
R3963:Rpusd2	UTSW	2	118,869,085 (GRCm39)	missense	probably benign	0.00
R4133:Rpusd2	UTSW	2	118,869,196 (GRCm39)	missense	probably damaging	1.00
R4486:Rpusd2	UTSW	2	118,865,705 (GRCm39)	missense	probably damaging	1.00
R4874:Rpusd2	UTSW	2	118,865,360 (GRCm39)	missense	probably benign	0.00
R6235:Rpusd2	UTSW	2	118,865,338 (GRCm39)	missense	probably benign
R6801:Rpusd2	UTSW	2	118,865,876 (GRCm39)	missense	probably damaging	1.00
R8505:Rpusd2	UTSW	2	118,869,007 (GRCm39)	missense	probably benign	0.00
R8802:Rpusd2	UTSW	2	118,865,378 (GRCm39)	missense	probably benign

Posted On

2015-04-16