Mutagenetix > Incidental Mutation

Incidental Mutation 'R4874:Rpusd2'

376763

Institutional Source

Beutler Lab

Gene Symbol

Rpusd2

Ensembl Gene

ENSMUSG00000027324

Gene Name

RNA pseudouridylate synthase domain containing 2

Synonyms

BB231107, 4921503C21Rik

MMRRC Submission

042484-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4874 (G1)

Quality Score

180

Status

Validated

Chromosome

Chromosomal Location

118865271-118870250 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118865360 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 19 (L19P)

Ref Sequence

ENSEMBL: ENSMUSP00000028796 (fasta)

Gene Model

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

AlphaFold

Q149F1

Predicted Effect

probably benign
Transcript: ENSMUST00000028796
AA Change: L19P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000028796
Gene: ENSMUSG00000027324
AA Change: L19P

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

Meta Mutation Damage Score

0.1118

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

94% (51/54)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	G	A	8: 60,969,147 (GRCm39)		probably null	Het
Adamtsl1	A	G	4: 86,260,729 (GRCm39)	N988S	possibly damaging	Het
Aph1b	A	T	9: 66,697,878 (GRCm39)		probably null	Het
B4galnt3	C	A	6: 120,184,167 (GRCm39)	R880L	probably damaging	Het
Bcam	T	C	7: 19,503,247 (GRCm39)		probably benign	Het
Cr2	A	T	1: 194,858,878 (GRCm39)	I14N	possibly damaging	Het
Dcdc5	T	C	2: 106,198,451 (GRCm39)		noncoding transcript	Het
Dll1	A	T	17: 15,590,501 (GRCm39)	M405K	probably benign	Het
Dync1h1	C	A	12: 110,624,560 (GRCm39)	T3700N	probably damaging	Het
Ern2	T	C	7: 121,775,810 (GRCm39)	D428G	probably benign	Het
Esp36	A	T	17: 38,727,987 (GRCm39)	M98K	unknown	Het
Foxd2	G	T	4: 114,764,768 (GRCm39)	H417Q	possibly damaging	Het
Glrb	T	C	3: 80,758,349 (GRCm39)	N304D	possibly damaging	Het
Haus3	A	G	5: 34,324,972 (GRCm39)	V229A	probably benign	Het
Hpgd	A	T	8: 56,770,838 (GRCm39)	I159F	possibly damaging	Het
Ighv1-22	T	A	12: 114,710,036 (GRCm39)	I70F	probably benign	Het
Il16	A	T	7: 83,310,153 (GRCm39)	F584L	possibly damaging	Het
Lamc2	T	C	1: 153,030,141 (GRCm39)	D167G	probably null	Het
Megf10	G	A	18: 57,426,930 (GRCm39)	V1083I	probably benign	Het
Mertk	T	C	2: 128,592,079 (GRCm39)	S268P	probably damaging	Het
Mfng	C	T	15: 78,648,588 (GRCm39)	R163H	probably benign	Het
Mki67	T	C	7: 135,310,500 (GRCm39)	D132G	probably damaging	Het
Nbas	A	G	12: 13,371,756 (GRCm39)	N419D	probably damaging	Het
Negr1	T	C	3: 156,565,082 (GRCm39)	L56S	probably damaging	Het
Nup214	A	G	2: 31,870,596 (GRCm39)		probably null	Het
Opn5	C	G	17: 42,891,610 (GRCm39)	A276P	probably damaging	Het
Or10j5	A	G	1: 172,785,166 (GRCm39)	E268G	probably benign	Het
Or2d3	C	T	7: 106,490,642 (GRCm39)	V225I	probably benign	Het
Or5t9	T	A	2: 86,659,598 (GRCm39)	H167Q	probably damaging	Het
Papln	G	T	12: 83,823,917 (GRCm39)	V499L	probably benign	Het
Pgap1	A	T	1: 54,569,296 (GRCm39)	W357R	probably damaging	Het
Pibf1	T	C	14: 99,377,992 (GRCm39)	Y373H	probably damaging	Het
Pitpnm1	T	C	19: 4,162,252 (GRCm39)		probably null	Het
Prcd	T	A	11: 116,550,597 (GRCm39)	W3R	probably null	Het
Prkaa1	A	G	15: 5,203,838 (GRCm39)	N249S	probably benign	Het
Reg3b	T	A	6: 78,349,809 (GRCm39)	N116K	possibly damaging	Het
Rufy1	T	C	11: 50,297,277 (GRCm39)	T392A	possibly damaging	Het
Sall3	T	C	18: 81,017,188 (GRCm39)	K247E	probably benign	Het
Shank1	C	T	7: 43,965,497 (GRCm39)	T191M	unknown	Het
Slit1	C	T	19: 41,717,493 (GRCm39)		probably null	Het
Sorl1	A	T	9: 41,975,048 (GRCm39)	V520E	probably damaging	Het
Vmn2r115	T	A	17: 23,578,825 (GRCm39)	F766Y	probably damaging	Het
Wdr87-ps	A	G	7: 29,235,608 (GRCm39)		noncoding transcript	Het
Zfp644	A	G	5: 106,783,279 (GRCm39)	S1032P	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGGGTACTCCAAGCAAGGAC -3'
(R):5'- TCTCTGCGAAGTGCTCATCG -3'

Sequencing Primer
(F):5'- GGACTTCCTCAGACACCTAACTCTG -3'
(R):5'- GAAGTGCTCATCGCTAAAGCTC -3'

Posted On

2016-03-17