Mutagenetix > Incidental Mutation

Incidental Mutation 'R6610:Rpap3'

525930

Institutional Source

Beutler Lab

Gene Symbol

Rpap3

Ensembl Gene

ENSMUSG00000022466

Gene Name

RNA polymerase II associated protein 3

Synonyms

D15Ertd682e, 2310042P20Rik

MMRRC Submission

044733-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6610 (G1)

Quality Score

215.009

Status

Validated

Chromosome

Chromosomal Location

97572978-97603706 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97586049 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 314 (D314G)

Ref Sequence

ENSEMBL: ENSMUSP00000023104 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023104]

AlphaFold

Q9D706

Predicted Effect

probably benign
Transcript: ENSMUST00000023104
AA Change: D314G

PolyPhen 2 Score 0.241 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000023104
Gene: ENSMUSG00000022466
AA Change: D314G

Domain	Start	End	E-Value	Type
coiled coil region	9	45	N/A	INTRINSIC
low complexity region	63	78	N/A	INTRINSIC
low complexity region	114	125	N/A	INTRINSIC
TPR	134	167	1.12e-7	SMART
TPR	168	201	2.07e1	SMART
TPR	202	235	2.36e-6	SMART
low complexity region	252	273	N/A	INTRINSIC
TPR	284	317	6.58e-5	SMART
TPR	318	351	4.45e-2	SMART
TPR	352	385	3.87e-2	SMART
Pfam:RPAP3_C	540	631	3.8e-26	PFAM

Meta Mutation Damage Score

0.8471

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.8%

Validation Efficiency

100% (42/42)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an RNA polymerase II-associated protein. The encoded protein may function in transcriptional regulation and may also regulate apoptosis. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]

Allele List at MGI

All alleles(10) : Targeted, other(1) Gene trapped(9)

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AB124611	A	T	9: 21,437,561 (GRCm39)	M1L	probably benign	Het
Adam26b	T	C	8: 43,974,190 (GRCm39)	K271E	probably damaging	Het
Ankrd44	A	G	1: 54,694,246 (GRCm39)	I914T	probably benign	Het
Atp12a	A	G	14: 56,612,013 (GRCm39)	R396G	probably damaging	Het
C2cd3	A	G	7: 100,104,505 (GRCm39)	K2173E	probably benign	Het
Cbx2	A	G	11: 118,915,036 (GRCm39)	D51G	probably damaging	Het
Ccdc33	T	A	9: 57,976,419 (GRCm39)	T532S	possibly damaging	Het
Ccnt1	T	C	15: 98,462,982 (GRCm39)	I63M	probably damaging	Het
Cdc20b	C	T	13: 113,200,796 (GRCm39)	T172I	probably benign	Het
Cep20	TTGTG	TTG	16: 14,118,009 (GRCm39)		probably null	Het
Ces2f	T	G	8: 105,676,738 (GRCm39)		probably null	Het
Cfh	A	T	1: 140,029,486 (GRCm39)	C597*	probably null	Het
Cntnap2	A	T	6: 45,992,191 (GRCm39)	T373S	probably benign	Het
Cyb5r4	T	G	9: 86,941,470 (GRCm39)	C64G	probably benign	Het
Cyp2c23	A	G	19: 43,995,520 (GRCm39)	F416L	probably damaging	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Eif4e1b	A	G	13: 54,932,128 (GRCm39)		probably benign	Het
Elp1	A	G	4: 56,758,236 (GRCm39)	V1227A	probably benign	Het
Etl4	G	A	2: 20,718,180 (GRCm39)	R256K	probably damaging	Het
Fhad1	A	G	4: 141,643,707 (GRCm39)	L1054P	possibly damaging	Het
Grik1	A	G	16: 87,831,200 (GRCm39)	I190T	probably damaging	Het
Gsdmc2	T	C	15: 63,696,857 (GRCm39)	N438S	probably benign	Het
Igkv15-103	A	T	6: 68,414,617 (GRCm39)	R19*	probably null	Het
Kcnc2	G	C	10: 112,107,761 (GRCm39)	G51R	probably benign	Het
Lhcgr	A	T	17: 89,077,307 (GRCm39)	I93K	possibly damaging	Het
Muc6	G	C	7: 141,226,700 (GRCm39)		probably benign	Het
Mymk	G	T	2: 26,957,405 (GRCm39)	S29R	possibly damaging	Het
Nab2	A	T	10: 127,500,207 (GRCm39)	I295N	probably damaging	Het
Neu2	A	T	1: 87,524,407 (GRCm39)	T131S	probably benign	Het
Pdcd7	T	A	9: 65,261,965 (GRCm39)	M129K	possibly damaging	Het
Ptar1	A	G	19: 23,695,208 (GRCm39)	H225R	probably benign	Het
Pygb	T	A	2: 150,665,886 (GRCm39)		probably null	Het
Scara3	A	G	14: 66,168,670 (GRCm39)	S316P	probably damaging	Het
Sec24a	C	T	11: 51,587,483 (GRCm39)	V1051I	probably benign	Het
Setdb1	G	T	3: 95,235,888 (GRCm39)	A841D	probably damaging	Het
Stk32b	G	A	5: 37,606,022 (GRCm39)	T407I	probably benign	Het
Tcte2	G	A	17: 13,948,250 (GRCm39)	Q10*	probably null	Het
Tgm2	C	A	2: 157,985,020 (GRCm39)	E29*	probably null	Het
Trim32	G	A	4: 65,533,308 (GRCm39)	V622M	probably damaging	Het
Ttn	G	A	2: 76,579,673 (GRCm39)	T23740M	probably damaging	Het
Tyk2	G	T	9: 21,019,312 (GRCm39)	Q1014K	probably benign	Het
Vmn1r123	A	G	7: 20,896,515 (GRCm39)	N136D	probably benign	Het
Vmn2r31	A	T	7: 7,387,588 (GRCm39)	V661E	probably damaging	Het
Vmn2r85	A	T	10: 130,261,838 (GRCm39)	F166L	probably damaging	Het
Zfp426	T	C	9: 20,384,389 (GRCm39)	K98R	probably damaging	Het
Zfp534	C	T	4: 147,758,947 (GRCm39)	R574K	probably benign	Het

Other mutations in Rpap3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01835:Rpap3	APN	15	97,601,120 (GRCm39)	missense	possibly damaging	0.85
IGL02714:Rpap3	APN	15	97,594,458 (GRCm39)	missense	possibly damaging	0.93
IGL03409:Rpap3	APN	15	97,579,620 (GRCm39)	missense	possibly damaging	0.46
R0095:Rpap3	UTSW	15	97,578,417 (GRCm39)	splice site	probably benign
R0847:Rpap3	UTSW	15	97,601,082 (GRCm39)	critical splice donor site	probably null
R1496:Rpap3	UTSW	15	97,584,364 (GRCm39)	missense	possibly damaging	0.86
R1562:Rpap3	UTSW	15	97,592,098 (GRCm39)	missense	possibly damaging	0.86
R1603:Rpap3	UTSW	15	97,599,002 (GRCm39)	missense	possibly damaging	0.53
R1801:Rpap3	UTSW	15	97,592,090 (GRCm39)	missense	possibly damaging	0.73
R2163:Rpap3	UTSW	15	97,578,229 (GRCm39)	missense	possibly damaging	0.71
R4969:Rpap3	UTSW	15	97,584,407 (GRCm39)	missense	probably benign
R5226:Rpap3	UTSW	15	97,601,104 (GRCm39)	missense	possibly damaging	0.53
R6613:Rpap3	UTSW	15	97,579,722 (GRCm39)	critical splice acceptor site	probably null
R7040:Rpap3	UTSW	15	97,576,993 (GRCm39)	missense	possibly damaging	0.51
R7429:Rpap3	UTSW	15	97,586,031 (GRCm39)	missense	possibly damaging	0.96
R7430:Rpap3	UTSW	15	97,586,031 (GRCm39)	missense	possibly damaging	0.96
R7829:Rpap3	UTSW	15	97,579,589 (GRCm39)	missense	probably benign	0.02
R7853:Rpap3	UTSW	15	97,576,299 (GRCm39)	missense	possibly damaging	0.92
R8223:Rpap3	UTSW	15	97,589,185 (GRCm39)	missense	probably benign	0.02
R8366:Rpap3	UTSW	15	97,579,548 (GRCm39)	missense	probably benign	0.18
R8897:Rpap3	UTSW	15	97,585,998 (GRCm39)	missense	probably benign	0.02
R9043:Rpap3	UTSW	15	97,584,443 (GRCm39)	missense	possibly damaging	0.86
R9144:Rpap3	UTSW	15	97,589,184 (GRCm39)	missense	possibly damaging	0.68
R9453:Rpap3	UTSW	15	97,579,641 (GRCm39)	missense
R9530:Rpap3	UTSW	15	97,579,655 (GRCm39)	missense	probably benign
YA93:Rpap3	UTSW	15	97,591,114 (GRCm39)	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- CCTGAACTCTAACCTAGCACTG -3'
(R):5'- ACTCCATTAGGGCGAGAACATAG -3'

Sequencing Primer
(F):5'- CCTAGCACTGCTGCAAAAATAG -3'
(R):5'- TTAGGGCGAGAACATAGTATAACCAC -3'

Posted On

2018-06-22