Mutagenetix > Incidental Mutation

Incidental Mutation 'R4606:Rpap2'

346006

Institutional Source

Beutler Lab

Gene Symbol

Rpap2

Ensembl Gene

ENSMUSG00000033773

Gene Name

RNA polymerase II associated protein 2

Synonyms

MMRRC Submission

041817-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4606 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107597373-107661838 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 107601795 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 62 (V62I)

Ref Sequence

ENSEMBL: ENSMUSP00000108274 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065422] [ENSMUST00000078021] [ENSMUST00000082121] [ENSMUST00000100949] [ENSMUST00000112650] [ENSMUST00000112651] [ENSMUST00000112654] [ENSMUST00000112655] [ENSMUST00000124140] [ENSMUST00000124546] [ENSMUST00000129483] [ENSMUST00000150074]

AlphaFold

Q8VC34

Predicted Effect

possibly damaging
Transcript: ENSMUST00000065422
AA Change: V62I

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000070209
Gene: ENSMUSG00000033773
AA Change: V62I

Domain	Start	End	E-Value	Type
Pfam:RPAP2_Rtr1	80	152	3.6e-26	PFAM
low complexity region	208	221	N/A	INTRINSIC
low complexity region	373	384	N/A	INTRINSIC
low complexity region	559	573	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000078021

SMART Domains

Protein: ENSMUSP00000077168
Gene: ENSMUSG00000029276

Domain	Start	End	E-Value	Type
Pfam:Kinetochor_Ybp2	1	563	5.6e-101	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000082121

SMART Domains

Protein: ENSMUSP00000080766
Gene: ENSMUSG00000029276

Domain	Start	End	E-Value	Type
Pfam:Kinetochor_Ybp2	1	563	3.5e-99	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000100949

SMART Domains

Protein: ENSMUSP00000098509
Gene: ENSMUSG00000029276

Domain	Start	End	E-Value	Type
Pfam:Kinetochor_Ybp2	1	404	1.1e-63	PFAM
Pfam:Kinetochor_Ybp2	402	499	1.5e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000112650

SMART Domains

Protein: ENSMUSP00000108269
Gene: ENSMUSG00000033773

Domain	Start	End	E-Value	Type
Pfam:RPAP2_Rtr1	1	74	1.7e-28	PFAM
low complexity region	129	142	N/A	INTRINSIC
low complexity region	294	305	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112651

SMART Domains

Protein: ENSMUSP00000108270
Gene: ENSMUSG00000033773

Domain	Start	End	E-Value	Type
Pfam:RPAP2_Rtr1	1	76	1.9e-28	PFAM
low complexity region	131	144	N/A	INTRINSIC
low complexity region	296	307	N/A	INTRINSIC
low complexity region	482	496	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112654
AA Change: V62I

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000108273
Gene: ENSMUSG00000033773
AA Change: V62I

Domain	Start	End	E-Value	Type
Pfam:RPAP2_Rtr1	78	153	1.8e-28	PFAM
low complexity region	208	221	N/A	INTRINSIC
low complexity region	373	384	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112655
AA Change: V62I

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000108274
Gene: ENSMUSG00000033773
AA Change: V62I

Domain	Start	End	E-Value	Type
Pfam:RPAP2_Rtr1	78	153	4.1e-28	PFAM
low complexity region	208	221	N/A	INTRINSIC
low complexity region	373	384	N/A	INTRINSIC
low complexity region	560	570	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000124140

SMART Domains

Protein: ENSMUSP00000123224
Gene: ENSMUSG00000029276

Domain	Start	End	E-Value	Type
Pfam:Kinetochor_Ybp2	1	100	5.8e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124546

SMART Domains

Protein: ENSMUSP00000122129
Gene: ENSMUSG00000029276

Domain	Start	End	E-Value	Type
Pfam:Kinetochor_Ybp2	1	95	6e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000129483

SMART Domains

Protein: ENSMUSP00000142510
Gene: ENSMUSG00000033773

Domain	Start	End	E-Value	Type
Pfam:RPAP2_Rtr1	1	74	5.2e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143113

Predicted Effect

possibly damaging
Transcript: ENSMUST00000150074
AA Change: V53I

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147284

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148505

Meta Mutation Damage Score

0.1243

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

96% (69/72)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	A	T	8: 79,210,745	W178R	probably benign	Het
Abcb5	T	C	12: 118,932,610		probably null	Het
Akr1b3	C	A	6: 34,306,664		probably benign	Het
Arid1a	A	G	4: 133,687,323	F1199S	unknown	Het
Atp4b	A	G	8: 13,389,998	F116S	probably damaging	Het
Atp6v1b1	T	C	6: 83,752,461	S127P	probably damaging	Het
Blk	C	T	14: 63,374,203	V428I	probably benign	Het
C87414	A	T	5: 93,636,602	D137E	probably damaging	Het
Ccser1	T	C	6: 61,311,584	S244P	probably damaging	Het
Ceacam1	T	A	7: 25,474,526	I235F	probably damaging	Het
Cyp2g1	T	A	7: 26,814,154	Y173N	possibly damaging	Het
Ddr2	T	A	1: 170,001,852	I278F	probably benign	Het
Degs1	T	C	1: 182,276,823	D299G	probably damaging	Het
Dip2b	G	A	15: 100,215,329	V1542I	possibly damaging	Het
Dmxl1	T	A	18: 49,962,181	S2942R	probably damaging	Het
Dpf1	T	A	7: 29,316,590		probably benign	Het
Ephb6	A	G	6: 41,616,574	Y518C	probably benign	Het
Eps15l1	A	T	8: 72,373,916	F606I	possibly damaging	Het
Extl1	A	G	4: 134,371,379	S114P	probably damaging	Het
Extl1	A	C	4: 134,371,380	D113E	probably benign	Het
Fat1	T	C	8: 44,950,683	V157A	possibly damaging	Het
Fcho1	A	T	8: 71,712,480	D444E	probably benign	Het
Fgd3	T	A	13: 49,296,560	D71V	probably damaging	Het
Fgd5	T	A	6: 91,988,209	D316E	possibly damaging	Het
Gys2	A	T	6: 142,454,484	F334I	possibly damaging	Het
Ik	G	T	18: 36,753,555	R360L	possibly damaging	Het
Kazn	A	C	4: 142,118,288		probably null	Het
Kmt2d	A	T	15: 98,839,716		probably benign	Het
Krr1	T	C	10: 111,975,677		probably benign	Het
Krt83	C	T	15: 101,487,049	E389K	probably benign	Het
Lrrc4c	T	C	2: 97,630,313	V428A	probably benign	Het
Lvrn	C	A	18: 46,864,765	T260K	possibly damaging	Het
Mcc	C	T	18: 44,468,421	E614K	probably damaging	Het
Msrb3	A	T	10: 120,849,997	V81D	probably damaging	Het
Muc19	C	T	15: 91,934,383		noncoding transcript	Het
Myadm	T	A	7: 3,297,400	L226*	probably null	Het
Myof	C	T	19: 37,967,099	V526M	probably damaging	Het
Nckap5l	A	G	15: 99,429,323		probably benign	Het
Olfr1010	T	A	2: 85,753,940		probably benign	Het
Olfr1260	C	A	2: 89,978,006	A76D	possibly damaging	Het
Olfr1270	G	T	2: 90,148,816		probably benign	Het
Olfr398	A	G	11: 73,983,892	S239P	probably damaging	Het
Pars2	T	C	4: 106,654,050	V307A	probably benign	Het
Pcdhb1	T	G	18: 37,265,528	Y177*	probably null	Het
Pcdhb4	T	A	18: 37,308,652	D338E	probably damaging	Het
Pik3r2	G	A	8: 70,772,136	R199*	probably null	Het
Pla2g4f	C	T	2: 120,313,986	R24Q	probably benign	Het
Pnma2	T	C	14: 66,916,232	I35T	probably benign	Het
Podn	C	A	4: 108,017,867	A568S	probably benign	Het
Pou3f1	A	T	4: 124,658,836	E377V	probably damaging	Het
Ppfia1	T	C	7: 144,485,192	D494G	probably damaging	Het
Ptpn9	A	T	9: 57,022,211	T71S	possibly damaging	Het
Ptprz1	C	T	6: 23,001,487	P1192L	possibly damaging	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Rnf217	T	A	10: 31,517,476	K370*	probably null	Het
Scaper	A	T	9: 55,655,903		probably null	Het
Sos2	T	C	12: 69,614,606		probably benign	Het
Sptbn5	C	T	2: 120,067,446		probably null	Het
Sumo1	A	G	1: 59,644,509		probably benign	Het
Syne2	C	A	12: 75,989,253	N3771K	probably damaging	Het
Tbx18	T	C	9: 87,730,769	I26V	possibly damaging	Het
Trpm3	T	A	19: 22,978,624	M1140K	probably benign	Het
Usp29	G	A	7: 6,963,357		probably null	Het
Wdr7	C	T	18: 63,779,945	Q946*	probably null	Het
Ythdf1	T	C	2: 180,912,182	D46G	probably damaging	Het
Zfp217	T	C	2: 170,119,750	N219S	possibly damaging	Het
Zkscan3	A	G	13: 21,393,783	I256T	probably benign	Het

Other mutations in Rpap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00654:Rpap2	APN	5	107603631	unclassified	probably benign
IGL01451:Rpap2	APN	5	107603626	critical splice donor site	probably null
IGL01583:Rpap2	APN	5	107620195	missense	probably damaging	0.99
IGL01837:Rpap2	APN	5	107625969	critical splice donor site	probably null
IGL02343:Rpap2	APN	5	107618181	splice site	probably null
IGL02999:Rpap2	APN	5	107601831	missense	possibly damaging	0.61
IGL03261:Rpap2	APN	5	107598560	missense	possibly damaging	0.95
IGL03381:Rpap2	APN	5	107620201	missense	probably benign	0.00
R0077:Rpap2	UTSW	5	107620474	missense	probably damaging	1.00
R1698:Rpap2	UTSW	5	107603550	missense	probably damaging	1.00
R1897:Rpap2	UTSW	5	107633095	missense	possibly damaging	0.85
R3039:Rpap2	UTSW	5	107601795	missense	possibly damaging	0.95
R3605:Rpap2	UTSW	5	107620529	missense	probably damaging	1.00
R3735:Rpap2	UTSW	5	107655151	splice site	probably benign
R4007:Rpap2	UTSW	5	107603872	missense	probably damaging	1.00
R4367:Rpap2	UTSW	5	107601795	missense	possibly damaging	0.95
R4448:Rpap2	UTSW	5	107601795	missense	possibly damaging	0.95
R4589:Rpap2	UTSW	5	107620495	missense	probably benign	0.00
R4799:Rpap2	UTSW	5	107620247	missense	probably benign	0.00
R4939:Rpap2	UTSW	5	107603625	critical splice donor site	probably null
R5580:Rpap2	UTSW	5	107620145	missense	probably benign	0.12
R6003:Rpap2	UTSW	5	107601901	splice site	probably null
R6032:Rpap2	UTSW	5	107597795	missense	probably damaging	0.97
R6032:Rpap2	UTSW	5	107597795	missense	probably damaging	0.97
R6142:Rpap2	UTSW	5	107598298	missense	probably benign
R6161:Rpap2	UTSW	5	107620670	missense	probably damaging	1.00
R6687:Rpap2	UTSW	5	107603630	splice site	probably null
R6761:Rpap2	UTSW	5	107620238	missense	probably benign
R6783:Rpap2	UTSW	5	107655287	missense	probably damaging	0.99
R7106:Rpap2	UTSW	5	107633122	nonsense	probably null
R7314:Rpap2	UTSW	5	107620379	missense	probably damaging	0.96
R7402:Rpap2	UTSW	5	107620458	nonsense	probably null
R7644:Rpap2	UTSW	5	107620301	missense	probably benign	0.04
R7782:Rpap2	UTSW	5	107620192	missense	probably benign	0.08
R7890:Rpap2	UTSW	5	107606911	missense	probably damaging	1.00
R8010:Rpap2	UTSW	5	107603605	missense	probably damaging	1.00
R8955:Rpap2	UTSW	5	107620495	missense	possibly damaging	0.63
R9114:Rpap2	UTSW	5	107598290	missense	possibly damaging	0.66
R9475:Rpap2	UTSW	5	107620589	missense	probably damaging	1.00
R9542:Rpap2	UTSW	5	107620314	missense	probably benign
R9631:Rpap2	UTSW	5	107620426	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGCTTCCATGTACACACTGG -3'
(R):5'- GGTCCTTTGTCTGTCAAGTCAAC -3'

Sequencing Primer
(F):5'- TTCCATGTACACACTGGGAAGAC -3'
(R):5'- TGTCTGTCAAGTCAACAAACAAAATC -3'

Posted On

2015-09-25