Mutagenetix > Incidental Mutations

Incidental Mutation 'R5226:Rpap3'

402636

Institutional Source

Beutler Lab

Gene Symbol

Rpap3

Ensembl Gene

ENSMUSG00000022466

Gene Name

RNA polymerase II associated protein 3

Synonyms

2310042P20Rik, D15Ertd682e

MMRRC Submission

042799-MU

Accession Numbers

Genbank: NM_028003; MGI: 1277218

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5226 (G1)

Quality Score

221

Status

Validated

Chromosome

Chromosomal Location

97675097-97705825 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 97703223 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 44 (R44S)

Ref Sequence

ENSEMBL: ENSMUSP00000023104 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023104
AA Change: R44S

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000023104
Gene: ENSMUSG00000022466
AA Change: R44S

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

0.0657

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (66/66)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,294,076	K98E	possibly damaging	Het
4933414I15Rik	A	T	11: 50,942,589	M62K	unknown	Het
Akr1d1	T	A	6: 37,536,014		probably null	Het
Ankrd63	T	C	2: 118,703,255		probably benign	Het
Atad5	T	C	11: 80,095,062	V325A	probably damaging	Het
Atp13a5	G	T	16: 29,248,279	N1025K	probably damaging	Het
Atrnl1	G	T	19: 57,650,335	V302L	probably benign	Het
Bend7	C	A	2: 4,752,978	S277*	probably null	Het
Btnl7-ps	A	T	17: 34,533,287		noncoding transcript	Het
Cbx4	T	C	11: 119,081,928	Y207C	probably damaging	Het
Ctla2b	C	T	13: 60,896,332	W63*	probably null	Het
Cux1	T	C	5: 136,370,173	T170A	probably benign	Het
Cyp3a57	T	C	5: 145,365,697	V101A	probably benign	Het
Dao	A	T	5: 114,021,033	T267S	probably benign	Het
Dsp	A	G	13: 38,186,770	D883G	probably damaging	Het
Eif4g3	C	A	4: 138,096,794	P36T	possibly damaging	Het
Elf3	G	A	1: 135,257,239	L70F	probably benign	Het
Epb41l4a	C	T	18: 33,810,313	D510N	probably damaging	Het
Gcn1l1	T	C	5: 115,588,067	S594P	probably benign	Het
Gm10722	T	C	9: 3,000,937	C6R	probably benign	Het
Gpr132	T	C	12: 112,852,148	T353A	probably benign	Het
Kntc1	A	G	5: 123,794,172	D1343G	probably benign	Het
L3mbtl4	T	A	17: 68,764,722		probably null	Het
Lrit2	A	G	14: 37,072,353	E458G	probably damaging	Het
Man1c1	A	T	4: 134,578,369	I348N	probably damaging	Het
Map4k2	A	G	19: 6,346,504		probably benign	Het
Nt5c2	A	C	19: 46,898,629	Y203D	probably damaging	Het
Oxgr1	A	G	14: 120,022,253	S181P	probably damaging	Het
Parn	A	G	16: 13,625,552	C400R	probably benign	Het
Pcdhgb7	T	C	18: 37,752,524	V249A	probably benign	Het
Pdzrn3	C	T	6: 101,153,311	D515N	probably damaging	Het
Plcg2	A	T	8: 117,577,874	I273F	possibly damaging	Het
Plin1	A	G	7: 79,722,699	V64A	probably damaging	Het
Ppfia4	C	A	1: 134,304,286		probably null	Het
Prkg2	A	C	5: 98,976,462	D376E	possibly damaging	Het
Ptgir	T	A	7: 16,908,720	I82N	probably damaging	Het
Pum2	C	T	12: 8,713,458	P205L	possibly damaging	Het
Rab26	T	A	17: 24,534,133		probably benign	Het
Recql4	T	C	15: 76,710,129	E63G	probably benign	Het
Rora	T	A	9: 69,364,141		probably benign	Het
Rp1	A	C	1: 4,348,033	M952R	probably benign	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Slc12a2	C	A	18: 57,879,020	P72T	probably damaging	Het
Slc1a3	C	T	15: 8,642,225	V416M	probably damaging	Het
Slfn4	A	T	11: 83,187,549	M388L	possibly damaging	Het
Snrnp48	G	A	13: 38,205,117	A49T	probably benign	Het
Tctex1d4	A	G	4: 117,128,093	T38A	possibly damaging	Het
Tlx2	C	T	6: 83,068,930	G228D	possibly damaging	Het
Tmem132a	A	G	19: 10,867,144	V30A	possibly damaging	Het
Tnfrsf23	C	A	7: 143,685,785	L24F	possibly damaging	Het
Ubr2	A	T	17: 46,983,270	N312K	probably benign	Het
Vmn1r115	C	T	7: 20,844,244	V248I	probably damaging	Het
Vmn2r80	A	G	10: 79,194,040	T567A	probably benign	Het
Vps13c	A	G	9: 67,945,553	T2372A	probably benign	Het
Wnt10b	G	T	15: 98,776,614	H81N	probably damaging	Het
Zfp948	A	G	17: 21,588,243	T566A	probably benign	Het

Other mutations in Rpap3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01835:Rpap3	APN	15	97703239	missense	possibly damaging	0.85
IGL02714:Rpap3	APN	15	97696577	missense	possibly damaging	0.93
IGL03409:Rpap3	APN	15	97681739	missense	possibly damaging	0.46
R0095:Rpap3	UTSW	15	97680536	splice site	probably benign
R0847:Rpap3	UTSW	15	97703201	critical splice donor site	probably null
R1496:Rpap3	UTSW	15	97686483	missense	possibly damaging	0.86
R1562:Rpap3	UTSW	15	97694217	missense	possibly damaging	0.86
R1603:Rpap3	UTSW	15	97701121	missense	possibly damaging	0.53
R1801:Rpap3	UTSW	15	97694209	missense	possibly damaging	0.73
R2163:Rpap3	UTSW	15	97680348	missense	possibly damaging	0.71
R4969:Rpap3	UTSW	15	97686526	missense	probably benign
R6610:Rpap3	UTSW	15	97688168	missense	probably benign	0.24
R6613:Rpap3	UTSW	15	97681841	critical splice acceptor site	probably null
R7040:Rpap3	UTSW	15	97679112	missense	possibly damaging	0.51
R7429:Rpap3	UTSW	15	97688150	missense	possibly damaging	0.96
R7430:Rpap3	UTSW	15	97688150	missense	possibly damaging	0.96
R7829:Rpap3	UTSW	15	97681708	missense	probably benign	0.02
R7853:Rpap3	UTSW	15	97678418	missense	possibly damaging	0.92
R8223:Rpap3	UTSW	15	97691304	missense	probably benign	0.02
R8366:Rpap3	UTSW	15	97681667	missense	probably benign	0.18
YA93:Rpap3	UTSW	15	97693233	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- GCACATTTTACAGGGCCATG -3'
(R):5'- GATTCTCAAAACTTTGTGTGCTCCAG -3'

Sequencing Primer
(F):5'- TGCAAGCCTGTTGACTCAAG -3'
(R):5'- CAAAACTTTGTGTGCTCCAGACTTG -3'

Posted On

2016-07-22