Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4618001:Rpusd2'

555680

Institutional Source

Beutler Lab

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 #

PIT4618001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

119034790-119039769 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119038452 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 452 (L452P)

Ref Sequence

ENSEMBL: ENSMUSP00000028796 (fasta)

Gene Model

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

AlphaFold

Q149F1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028796
AA Change: L452P

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000028796
Gene: ENSMUSG00000027324
AA Change: L452P

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

1x: 93.4%
3x: 91.0%
10x: 85.9%
20x: 75.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028K03Rik	A	T	5: 107,545,709	D64V	probably damaging	Het
Ankdd1a	A	C	9: 65,507,650	I268S	possibly damaging	Het
Atad3a	C	T	4: 155,750,138	R402Q	probably benign	Het
C3ar1	A	G	6: 122,850,787	V157A	probably benign	Het
Cd55	C	T	1: 130,456,869	V206I	probably benign	Het
Cd8a	A	G	6: 71,373,677	D42G	possibly damaging	Het
Cemip	G	T	7: 83,943,939	F1185L	probably benign	Het
Cfap58	A	G	19: 47,975,514	D527G	probably damaging	Het
Cyp2a12	C	A	7: 27,034,773	S377Y	probably benign	Het
Dapk2	A	G	9: 66,268,686	D289G	probably benign	Het
Efcab6	G	A	15: 83,983,446	A277V	probably benign	Het
Ephx2	A	T	14: 66,102,222	F250L	probably damaging	Het
Flg2	A	T	3: 93,203,781	S1039C	unknown	Het
Gm609	A	G	16: 45,443,934	F87S	probably benign	Het
Gramd1a	A	G	7: 31,132,596	V674A	probably benign	Het
Gtf2a1	A	C	12: 91,567,769	V237G	probably benign	Het
I830077J02Rik	G	A	3: 105,926,570	T90M	probably damaging	Het
Jagn1	T	A	6: 113,447,437	L90H	probably damaging	Het
Mdn1	G	T	4: 32,746,527	A4158S	probably benign	Het
Myh11	G	A	16: 14,201,066	A1839V		Het
Olr1	G	A	6: 129,499,906	A132V	probably damaging	Het
Paqr3	A	T	5: 97,103,471	H131Q	possibly damaging	Het
Pde4b	A	T	4: 102,602,812	T397S	probably benign	Het
Pon1	A	G	6: 5,168,349	C353R	probably damaging	Het
Ppie	G	A	4: 123,138,868	T43I	probably null	Het
Prr5l	A	G	2: 101,758,530	F92L	probably damaging	Het
Rai14	T	C	15: 10,575,156	Y601C	probably damaging	Het
Rasal1	A	G	5: 120,670,376	D491G	probably damaging	Het
Rbm12b1	T	A	4: 12,145,441	V471E	probably damaging	Het
Scgb2b24	A	T	7: 33,738,611	C24S	probably damaging	Het
Slc17a5	C	T	9: 78,538,248	V468M	possibly damaging	Het
Tcp10c	A	G	17: 13,356,510	K117R	possibly damaging	Het
Ubash3b	A	G	9: 41,016,627	S584P	probably benign	Het
Vps13b	C	T	15: 35,709,240	R1778C	probably damaging	Het
Ythdc2	A	G	18: 44,834,598	I220M	probably benign	Het
Zfp474	C	A	18: 52,638,404	T43K	probably damaging	Het
Zscan4-ps3	G	A	7: 11,613,334	M432I	probably benign	Het

Other mutations in Rpusd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01729:Rpusd2	APN	2	119035356	missense	probably damaging	1.00
IGL02126:Rpusd2	APN	2	119038638	missense	probably damaging	0.98
IGL02136:Rpusd2	APN	2	119038178	missense	probably damaging	1.00
R0211:Rpusd2	UTSW	2	119038412	missense	probably benign
R0211:Rpusd2	UTSW	2	119038412	missense	probably benign
R1295:Rpusd2	UTSW	2	119036927	missense	probably benign	0.39
R1866:Rpusd2	UTSW	2	119035247	missense	probably benign	0.13
R2060:Rpusd2	UTSW	2	119037215	critical splice donor site	probably null
R2567:Rpusd2	UTSW	2	119037075	missense	probably damaging	1.00
R3963:Rpusd2	UTSW	2	119038604	missense	probably benign	0.00
R4133:Rpusd2	UTSW	2	119038715	missense	probably damaging	1.00
R4486:Rpusd2	UTSW	2	119035224	missense	probably damaging	1.00
R4874:Rpusd2	UTSW	2	119034879	missense	probably benign	0.00
R6235:Rpusd2	UTSW	2	119034857	missense	probably benign
R6801:Rpusd2	UTSW	2	119035395	missense	probably damaging	1.00
R8505:Rpusd2	UTSW	2	119038526	missense	probably benign	0.00
R8802:Rpusd2	UTSW	2	119034897	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCCACCCGATTCTCAATGAC -3'
(R):5'- TGCAGGAACATTACGAGATCC -3'

Sequencing Primer
(F):5'- CGATTCTCAATGACCCCATCTAC -3'
(R):5'- ACATTACGAGATCCTGGGGC -3'

Posted On

2019-06-07