Mutagenetix > Incidental Mutation

Incidental Mutation 'R7402:Rpap2'

574256

Institutional Source

Beutler Lab

Gene Symbol

Rpap2

Ensembl Gene

ENSMUSG00000033773

Gene Name

RNA polymerase II associated protein 2

Synonyms

MMRRC Submission

045484-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7402 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

107745239-107809704 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 107768324 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 387 (Y387*)

Ref Sequence

ENSEMBL: ENSMUSP00000070209 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065422] [ENSMUST00000112650] [ENSMUST00000112651] [ENSMUST00000112654] [ENSMUST00000112655]

AlphaFold

Q8VC34

Predicted Effect

probably null
Transcript: ENSMUST00000065422
AA Change: Y387*

SMART Domains

Protein: ENSMUSP00000070209
Gene: ENSMUSG00000033773
AA Change: Y387*

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 null
Transcript: ENSMUST00000112650
AA Change: Y308*

SMART Domains

Protein: ENSMUSP00000108269
Gene: ENSMUSG00000033773
AA Change: Y308*

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 null
Transcript: ENSMUST00000112651
AA Change: Y310*

SMART Domains

Protein: ENSMUSP00000108270
Gene: ENSMUSG00000033773
AA Change: Y310*

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

probably null
Transcript: ENSMUST00000112654
AA Change: Y387*

SMART Domains

Protein: ENSMUSP00000108273
Gene: ENSMUSG00000033773
AA Change: Y387*

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

probably null
Transcript: ENSMUST00000112655
AA Change: Y387*

SMART Domains

Protein: ENSMUSP00000108274
Gene: ENSMUSG00000033773
AA Change: Y387*

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

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	G	T	14: 118,943,487 (GRCm39)	P12Q	probably damaging	Het
Acsf3	A	G	8: 123,507,163 (GRCm39)	Y152C	probably damaging	Het
Adam22	T	A	5: 8,145,049 (GRCm39)	Q803L	possibly damaging	Het
Adamtsl3	G	A	7: 82,227,825 (GRCm39)	V1337I	probably damaging	Het
Adra1b	T	C	11: 43,666,845 (GRCm39)	D464G	possibly damaging	Het
Alpk3	T	A	7: 80,726,660 (GRCm39)	I115K	probably benign	Het
Amdhd2	A	G	17: 24,380,657 (GRCm39)	S96P		Het
Ankib1	T	G	5: 3,819,586 (GRCm39)	D111A	probably benign	Het
Arhgef2	A	G	3: 88,540,873 (GRCm39)	D216G	probably damaging	Het
Astn1	A	T	1: 158,380,425 (GRCm39)		probably benign	Het
Atosa	C	A	9: 74,913,668 (GRCm39)	Y107*	probably null	Het
Atrn	T	A	2: 130,789,520 (GRCm39)	W328R	probably damaging	Het
Atxn7	A	T	14: 14,095,427 (GRCm38)	H375L	probably damaging	Het
Btaf1	A	T	19: 36,980,915 (GRCm39)	N1579Y	probably damaging	Het
Cacna1b	A	T	2: 24,497,671 (GRCm39)	L2079Q	probably benign	Het
Ccdc102a	T	C	8: 95,629,981 (GRCm39)	K520R	probably damaging	Het
Cd2ap	T	C	17: 43,116,054 (GRCm39)	H602R	possibly damaging	Het
Cdkn2aip	A	G	8: 48,164,408 (GRCm39)	V435A	possibly damaging	Het
Cenpf	A	T	1: 189,391,575 (GRCm39)	Y735*	probably null	Het
Cep350	T	A	1: 155,803,961 (GRCm39)	I1041L	probably benign	Het
Ckap4	A	G	10: 84,363,863 (GRCm39)	V400A	probably damaging	Het
Comp	T	A	8: 70,829,854 (GRCm39)	D359E	probably benign	Het
Coq10b	A	C	1: 55,100,500 (GRCm39)	K61N	probably benign	Het
Csmd2	G	A	4: 128,215,889 (GRCm39)	S548N		Het
Csmd2	A	C	4: 128,215,888 (GRCm39)	S548R		Het
Ctif	A	G	18: 75,744,807 (GRCm39)	I99T	probably benign	Het
Ctns	T	G	11: 73,083,903 (GRCm39)	T40P	possibly damaging	Het
Cyp11b1	C	T	15: 74,712,674 (GRCm39)	R129H	probably damaging	Het
Cyp2c68	A	T	19: 39,729,318 (GRCm39)	N56K	probably benign	Het
D6Wsu163e	A	G	6: 126,938,968 (GRCm39)	K401R	probably damaging	Het
Dstn	T	A	2: 143,780,368 (GRCm39)	C23S	probably benign	Het
Fam72a	A	T	1: 131,466,613 (GRCm39)	E132D	probably damaging	Het
Fam72a	G	T	1: 131,466,614 (GRCm39)	E133*	probably null	Het
Gbp8	T	A	5: 105,179,161 (GRCm39)	I113F	probably damaging	Het
Gm3095	A	T	14: 15,170,332 (GRCm39)	R60S	possibly damaging	Het
Gpa33	A	T	1: 165,980,263 (GRCm39)	M109L	probably damaging	Het
Grik2	A	G	10: 49,411,493 (GRCm39)	L215P	probably damaging	Het
Gucy2g	A	C	19: 55,194,725 (GRCm39)	F897L	probably damaging	Het
Hinfp	A	G	9: 44,209,314 (GRCm39)	L295P	probably damaging	Het
Ift122	T	C	6: 115,871,283 (GRCm39)	V526A	probably benign	Het
Ighv5-12	T	C	12: 113,665,853 (GRCm39)	T82A	probably benign	Het
Il18rap	T	A	1: 40,564,111 (GRCm39)	S76R	probably benign	Het
Itga6	A	T	2: 71,683,897 (GRCm39)	N1045I	probably benign	Het
Kctd21	A	T	7: 96,996,970 (GRCm39)	I148F	possibly damaging	Het
Kif28	T	A	1: 179,567,644 (GRCm39)	H42L	probably benign	Het
Kmt2c	A	C	5: 25,600,418 (GRCm39)	C326W	probably damaging	Het
Knl1	T	A	2: 118,925,707 (GRCm39)	L1912*	probably null	Het
Lrfn1	A	T	7: 28,158,947 (GRCm39)	I289F	probably damaging	Het
Lrriq1	T	C	10: 103,057,185 (GRCm39)	K205R	possibly damaging	Het
Mbd5	A	T	2: 49,147,566 (GRCm39)	N592I	probably damaging	Het
Mbl2	A	G	19: 30,216,802 (GRCm39)	N205D	possibly damaging	Het
Mcm4	C	A	16: 15,455,042 (GRCm39)	M1I	probably null	Het
Mgat4a	T	A	1: 37,493,865 (GRCm39)	H327L	probably damaging	Het
Miox	A	G	15: 89,219,206 (GRCm39)	D16G	probably benign	Het
Mvk	C	A	5: 114,594,039 (GRCm39)	P298Q	possibly damaging	Het
Nol6	A	G	4: 41,118,699 (GRCm39)	L726P	probably damaging	Het
Nos1	T	C	5: 118,087,880 (GRCm39)	I1381T	probably benign	Het
Nup98	A	T	7: 101,784,144 (GRCm39)	S1063T	probably benign	Het
Obscn	T	G	11: 58,886,275 (GRCm39)	M7862L	unknown	Het
Obsl1	T	C	1: 75,464,348 (GRCm39)	T1653A	probably benign	Het
Odr4	A	G	1: 150,262,107 (GRCm39)		probably null	Het
Or4c105	G	T	2: 88,647,687 (GRCm39)	M57I	probably damaging	Het
Or8g53	T	A	9: 39,683,260 (GRCm39)	T279S	probably benign	Het
Or8u9	A	G	2: 86,001,546 (GRCm39)	I205T	probably benign	Het
Or9q2	C	T	19: 13,772,358 (GRCm39)	V206I	probably damaging	Het
Pcdhb20	A	G	18: 37,638,005 (GRCm39)	Y177C	probably benign	Het
Pcdhb3	A	C	18: 37,434,657 (GRCm39)	I208L	probably benign	Het
Phlpp1	G	T	1: 106,317,420 (GRCm39)	G1214W	probably damaging	Het
Ppp4r3a	A	T	12: 101,025,053 (GRCm39)	S149T	possibly damaging	Het
Pxdn	T	C	12: 30,052,438 (GRCm39)	C872R	probably damaging	Het
Rarb	A	G	14: 16,548,419 (GRCm38)	C101R	probably damaging	Het
Rcor3	A	C	1: 191,812,283 (GRCm39)	V114G	probably benign	Het
Rnpepl1	A	G	1: 92,847,372 (GRCm39)	Q653R	probably benign	Het
Rttn	C	T	18: 89,004,035 (GRCm39)	T343M	possibly damaging	Het
Samd11	T	C	4: 156,333,230 (GRCm39)	T333A	probably benign	Het
Six5	T	C	7: 18,828,968 (GRCm39)	L136P	probably damaging	Het
Slc12a5	T	A	2: 164,824,852 (GRCm39)	M419K	probably benign	Het
Slc22a21	T	C	11: 53,851,226 (GRCm39)	M179V	probably benign	Het
Slc35a4	A	G	18: 36,813,570 (GRCm39)	D6G	unknown	Het
Spdye4c	A	T	2: 128,434,261 (GRCm39)	M1L	probably benign	Het
Svep1	A	T	4: 58,069,699 (GRCm39)	C2696S	possibly damaging	Het
Tceanc2	T	C	4: 107,004,893 (GRCm39)	N85S	probably benign	Het
Teddm2	G	C	1: 153,726,344 (GRCm39)	L124V	probably benign	Het
Teddm2	A	T	1: 153,726,343 (GRCm39)	L124Q	probably damaging	Het
Tgfbr1	T	A	4: 47,405,623 (GRCm39)	W409R	probably damaging	Het
Tkt	A	G	14: 30,280,755 (GRCm39)	D62G	probably damaging	Het
Tnrc6b	T	A	15: 80,768,501 (GRCm39)	V1054D	probably damaging	Het
Trpm7	C	A	2: 126,641,126 (GRCm39)	L1564F	probably damaging	Het
Vmn1r43	A	T	6: 89,846,803 (GRCm39)	C228S	probably benign	Het
Vmn2r106	T	C	17: 20,487,883 (GRCm39)	R839G	probably damaging	Het
Vmn2r5	G	A	3: 64,403,176 (GRCm39)	T523I	probably benign	Het
Vwa3b	C	T	1: 37,153,678 (GRCm39)	Q507*	probably null	Het
Wrn	C	G	8: 33,738,994 (GRCm39)	W1278S	probably benign	Het
Zfp281	T	G	1: 136,553,190 (GRCm39)	L56R	probably damaging	Het
Zfp407	G	A	18: 84,579,661 (GRCm39)	T484I	probably benign	Het
Zfp451	T	C	1: 33,852,843 (GRCm39)	T24A	probably benign	Het
Zfp607b	T	A	7: 27,392,919 (GRCm39)	F16I	probably damaging	Het
Zfp638	T	A	6: 83,905,670 (GRCm39)	V41E	possibly damaging	Het

Other mutations in Rpap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00654:Rpap2	APN	5	107,751,497 (GRCm39)	unclassified	probably benign
IGL01451:Rpap2	APN	5	107,751,492 (GRCm39)	critical splice donor site	probably null
IGL01583:Rpap2	APN	5	107,768,061 (GRCm39)	missense	probably damaging	0.99
IGL01837:Rpap2	APN	5	107,773,835 (GRCm39)	critical splice donor site	probably null
IGL02343:Rpap2	APN	5	107,766,047 (GRCm39)	splice site	probably null
IGL02999:Rpap2	APN	5	107,749,697 (GRCm39)	missense	possibly damaging	0.61
IGL03261:Rpap2	APN	5	107,746,426 (GRCm39)	missense	possibly damaging	0.95
IGL03381:Rpap2	APN	5	107,768,067 (GRCm39)	missense	probably benign	0.00
R0077:Rpap2	UTSW	5	107,768,340 (GRCm39)	missense	probably damaging	1.00
R1698:Rpap2	UTSW	5	107,751,416 (GRCm39)	missense	probably damaging	1.00
R1897:Rpap2	UTSW	5	107,780,961 (GRCm39)	missense	possibly damaging	0.85
R3039:Rpap2	UTSW	5	107,749,661 (GRCm39)	missense	possibly damaging	0.95
R3605:Rpap2	UTSW	5	107,768,395 (GRCm39)	missense	probably damaging	1.00
R3735:Rpap2	UTSW	5	107,803,017 (GRCm39)	splice site	probably benign
R4007:Rpap2	UTSW	5	107,751,738 (GRCm39)	missense	probably damaging	1.00
R4367:Rpap2	UTSW	5	107,749,661 (GRCm39)	missense	possibly damaging	0.95
R4448:Rpap2	UTSW	5	107,749,661 (GRCm39)	missense	possibly damaging	0.95
R4589:Rpap2	UTSW	5	107,768,361 (GRCm39)	missense	probably benign	0.00
R4606:Rpap2	UTSW	5	107,749,661 (GRCm39)	missense	possibly damaging	0.95
R4799:Rpap2	UTSW	5	107,768,113 (GRCm39)	missense	probably benign	0.00
R4939:Rpap2	UTSW	5	107,751,491 (GRCm39)	critical splice donor site	probably null
R5580:Rpap2	UTSW	5	107,768,011 (GRCm39)	missense	probably benign	0.12
R6003:Rpap2	UTSW	5	107,749,767 (GRCm39)	splice site	probably null
R6032:Rpap2	UTSW	5	107,745,661 (GRCm39)	missense	probably damaging	0.97
R6032:Rpap2	UTSW	5	107,745,661 (GRCm39)	missense	probably damaging	0.97
R6142:Rpap2	UTSW	5	107,746,164 (GRCm39)	missense	probably benign
R6161:Rpap2	UTSW	5	107,768,536 (GRCm39)	missense	probably damaging	1.00
R6687:Rpap2	UTSW	5	107,751,496 (GRCm39)	splice site	probably null
R6761:Rpap2	UTSW	5	107,768,104 (GRCm39)	missense	probably benign
R6783:Rpap2	UTSW	5	107,803,153 (GRCm39)	missense	probably damaging	0.99
R7106:Rpap2	UTSW	5	107,780,988 (GRCm39)	nonsense	probably null
R7314:Rpap2	UTSW	5	107,768,245 (GRCm39)	missense	probably damaging	0.96
R7644:Rpap2	UTSW	5	107,768,167 (GRCm39)	missense	probably benign	0.04
R7782:Rpap2	UTSW	5	107,768,058 (GRCm39)	missense	probably benign	0.08
R7890:Rpap2	UTSW	5	107,754,777 (GRCm39)	missense	probably damaging	1.00
R8010:Rpap2	UTSW	5	107,751,471 (GRCm39)	missense	probably damaging	1.00
R8955:Rpap2	UTSW	5	107,768,361 (GRCm39)	missense	possibly damaging	0.63
R9114:Rpap2	UTSW	5	107,746,156 (GRCm39)	missense	possibly damaging	0.66
R9475:Rpap2	UTSW	5	107,768,455 (GRCm39)	missense	probably damaging	1.00
R9542:Rpap2	UTSW	5	107,768,180 (GRCm39)	missense	probably benign
R9631:Rpap2	UTSW	5	107,768,292 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACGGTGTATCACAAGTTACG -3'
(R):5'- CTCTCATAACTTGGCAGTGGC -3'

Sequencing Primer
(F):5'- AGTTACGCTTGTAGGCATAAGC -3'
(R):5'- CTCATAACTTGGCAGTGGCTTAATG -3'

Posted On

2019-09-13