Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01729:Rpusd2'

105418

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 #

IGL01729

Quality Score

Status

Chromosome

Chromosomal Location

118865271-118870250 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 118865837 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 178 (V178D)

Ref Sequence

ENSEMBL: ENSMUSP00000028796 (fasta)

Gene Model

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

AlphaFold

Q149F1

Predicted Effect

probably damaging
Transcript: ENSMUST00000028796
AA Change: V178D

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

SMART Domains

Protein: ENSMUSP00000028796
Gene: ENSMUSG00000027324
AA Change: V178D

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4galt	A	G	15: 83,112,526 (GRCm39)	F86L	probably damaging	Het
Acer3	A	G	7: 97,866,072 (GRCm39)	V217A	probably benign	Het
Adcy10	T	C	1: 165,340,737 (GRCm39)		probably null	Het
Adcy8	C	T	15: 64,678,511 (GRCm39)	V481I	probably damaging	Het
Ano3	C	T	2: 110,611,739 (GRCm39)		probably null	Het
Arhgap23	C	T	11: 97,344,787 (GRCm39)	T583I	probably damaging	Het
Atp2a1	A	G	7: 126,057,106 (GRCm39)	L173P	probably damaging	Het
Clgn	T	C	8: 84,124,279 (GRCm39)	W74R	probably damaging	Het
Clstn3	T	C	6: 124,426,753 (GRCm39)	S523G	probably benign	Het
Dnah10	A	C	5: 124,864,529 (GRCm39)	K2245Q	probably benign	Het
Dsg1b	G	T	18: 20,538,295 (GRCm39)	V634L	possibly damaging	Het
Dzip3	A	T	16: 48,748,726 (GRCm39)	V864E	possibly damaging	Het
Ear2	A	T	14: 44,340,701 (GRCm39)	R120*	probably null	Het
Fam171b	T	C	2: 83,685,881 (GRCm39)		probably benign	Het
Fam186b	G	A	15: 99,178,132 (GRCm39)	S398L	probably benign	Het
Gabrp	T	C	11: 33,502,689 (GRCm39)	K392E	probably damaging	Het
Gm10355	G	A	3: 101,213,999 (GRCm39)		noncoding transcript	Het
Gm3424	T	C	14: 17,337,188 (GRCm39)	Y90C	probably damaging	Het
Gm8165	A	G	14: 43,910,186 (GRCm39)	V212A	unknown	Het
Grm7	G	A	6: 111,223,145 (GRCm39)	R395Q	probably benign	Het
Il1r1	T	A	1: 40,333,986 (GRCm39)	N185K	probably damaging	Het
Jam3	A	G	9: 27,016,821 (GRCm39)	F80L	probably damaging	Het
Map1s	T	C	8: 71,365,712 (GRCm39)	Y206H	probably damaging	Het
Mroh7	A	G	4: 106,561,402 (GRCm39)	Y614H	possibly damaging	Het
Ntmt2	T	A	1: 163,552,572 (GRCm39)	D18V	probably damaging	Het
Pate2	T	C	9: 35,581,888 (GRCm39)	Y61H	probably damaging	Het
Prox1	T	A	1: 189,893,372 (GRCm39)	T358S	probably benign	Het
Prpf6	T	A	2: 181,296,710 (GRCm39)	D876E	probably damaging	Het
Rpf1	G	A	3: 146,212,904 (GRCm39)	R311C	probably damaging	Het
Stx2	A	G	5: 129,068,042 (GRCm39)	F222L	probably benign	Het
Themis	T	A	10: 28,637,587 (GRCm39)	Y230*	probably null	Het
Tmem132e	T	C	11: 82,325,942 (GRCm39)	L314P	possibly damaging	Het
Tmtc3	T	C	10: 100,283,017 (GRCm39)	E846G	probably benign	Het
Trem1	T	C	17: 48,551,603 (GRCm39)	V88A	possibly damaging	Het
Trim21	G	A	7: 102,213,100 (GRCm39)	A66V	probably damaging	Het
Trip4	A	C	9: 65,782,174 (GRCm39)	V186G	probably benign	Het
Vps9d1	T	C	8: 123,973,739 (GRCm39)	E348G	probably damaging	Het
Xrn2	T	C	2: 146,878,717 (GRCm39)		probably null	Het
Zfp36	A	G	7: 28,077,888 (GRCm39)	S7P	probably damaging	Het

Other mutations in Rpusd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02126:Rpusd2	APN	2	118,869,119 (GRCm39)	missense	probably damaging	0.98
IGL02136:Rpusd2	APN	2	118,868,659 (GRCm39)	missense	probably damaging	1.00
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

2014-01-21