Mutagenetix > Incidental Mutation

Incidental Mutation 'R8505:Rpusd2'

655510

Institutional Source

Beutler Lab

Gene Symbol

Rpusd2

Ensembl Gene

ENSMUSG00000027324

Gene Name

RNA pseudouridylate synthase domain containing 2

Synonyms

BB231107, 4921503C21Rik

MMRRC Submission

067841-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8505 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

118865271-118870250 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118869007 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 477 (I477V)

Ref Sequence

ENSEMBL: ENSMUSP00000028796 (fasta)

Gene Model

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

AlphaFold

Q149F1

Predicted Effect

probably benign
Transcript: ENSMUST00000028796
AA Change: I477V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000028796
Gene: ENSMUSG00000027324
AA Change: I477V

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	A	T	17: 24,593,471 (GRCm39)	K289N	probably damaging	Het
Adamts5	C	A	16: 85,696,944 (GRCm39)	S71I	probably benign	Het
Astn2	T	C	4: 65,299,825 (GRCm39)	Y1308C	unknown	Het
Cfap54	A	C	10: 92,814,855 (GRCm39)	M1326R	probably benign	Het
Chga	A	G	12: 102,528,004 (GRCm39)	E165G	probably damaging	Het
Corin	T	A	5: 72,592,750 (GRCm39)	I216F	probably benign	Het
D930048N14Rik	GGG	GGGG	11: 51,541,946 (GRCm39)		probably null	Het
Hectd1	A	T	12: 51,797,145 (GRCm39)	W2198R	probably damaging	Het
Hs3st3a1	T	A	11: 64,411,614 (GRCm39)	M384K	possibly damaging	Het
Ifi207	GTT	GT	1: 173,557,016 (GRCm39)		probably null	Het
Ighv1-37	A	T	12: 114,860,248 (GRCm39)	V15E	probably benign	Het
Kank4	G	A	4: 98,673,913 (GRCm39)		probably benign	Het
Mical2	C	A	7: 111,919,007 (GRCm39)	T432N	probably benign	Het
Morn1	A	C	4: 155,177,792 (GRCm39)	E201A	unknown	Het
Myo5c	T	A	9: 75,153,423 (GRCm39)	I103N	probably damaging	Het
Nelfe	G	A	17: 35,073,779 (GRCm39)		probably null	Het
Neo1	C	A	9: 58,820,566 (GRCm39)	V786L	probably benign	Het
Nrxn2	T	A	19: 6,540,163 (GRCm39)	V821E	probably damaging	Het
Ppp2r3d	A	G	9: 124,439,084 (GRCm38)	F111S		Het
Rapgef2	G	A	3: 78,986,349 (GRCm39)	R1064*	probably null	Het
Rrm2	A	G	12: 24,759,384 (GRCm39)	I128V	probably benign	Het
Ryr3	A	T	2: 112,506,215 (GRCm39)	V3469E	probably damaging	Het
Sowahb	T	A	5: 93,190,450 (GRCm39)	E756D	possibly damaging	Het
Sppl2b	TGTCACAGGT	TGT	10: 80,701,903 (GRCm39)		probably null	Het
Stk35	C	T	2: 129,643,649 (GRCm39)	A211V	probably damaging	Het
Ston1	A	G	17: 88,943,017 (GRCm39)	H141R	probably benign	Het
Tcaf2	A	G	6: 42,606,475 (GRCm39)	I493T	probably benign	Het
Them4	A	T	3: 94,224,847 (GRCm39)	T75S	probably benign	Het
Tjp2	T	C	19: 24,088,438 (GRCm39)	D723G	probably null	Het
Tnn	T	C	1: 159,973,593 (GRCm39)	D258G	probably damaging	Het
Ttn	A	G	2: 76,745,779 (GRCm39)	I5090T	probably benign	Het
Ubr4	G	A	4: 139,156,880 (GRCm39)	G1013S		Het
Utp20	A	G	10: 88,653,870 (GRCm39)	L250P	probably benign	Het
Vmn1r199	A	G	13: 22,567,317 (GRCm39)	T204A	probably benign	Het
Zfp518b	T	C	5: 38,830,119 (GRCm39)	T629A	probably benign	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
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
R8802:Rpusd2	UTSW	2	118,865,378 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AATTCAACTGCCTGGGGTCC -3'
(R):5'- AGTCTGGCCCTTTATAGCGG -3'

Sequencing Primer
(F):5'- GGGTGGCCACATTCCAAAGAC -3'
(R):5'- GAGGGCATGCAGGAACATTAC -3'

Posted On

2020-10-20