Mutagenetix > Incidental Mutation

Incidental Mutation 'R9631:Rpap2'

725494

Institutional Source

Beutler Lab

Gene Symbol

Rpap2

Ensembl Gene

ENSMUSG00000033773

Gene Name

RNA polymerase II associated protein 2

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9631 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

107745239-107809704 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 107768292 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 377 (W377R)

Ref Sequence

ENSEMBL: ENSMUSP00000070209 (fasta)

Gene Model

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

AlphaFold

Q8VC34

Predicted Effect

probably damaging
Transcript: ENSMUST00000065422
AA Change: W377R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000070209
Gene: ENSMUSG00000033773
AA Change: W377R

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 damaging
Transcript: ENSMUST00000112650
AA Change: W298R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108269
Gene: ENSMUSG00000033773
AA Change: W298R

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 damaging
Transcript: ENSMUST00000112651
AA Change: W300R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108270
Gene: ENSMUSG00000033773
AA Change: W300R

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 damaging
Transcript: ENSMUST00000112654
AA Change: W377R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108273
Gene: ENSMUSG00000033773
AA Change: W377R

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 damaging
Transcript: ENSMUST00000112655
AA Change: W377R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108274
Gene: ENSMUSG00000033773
AA Change: W377R

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: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atl3	A	G	19: 7,509,553 (GRCm39)	N427S	probably benign	Het
Bcar3	T	A	3: 122,301,801 (GRCm39)	D165E	possibly damaging	Het
Brap	T	C	5: 121,822,435 (GRCm39)	I437T	probably benign	Het
Bspry	T	C	4: 62,400,955 (GRCm39)		probably null	Het
Camkv	G	T	9: 107,822,990 (GRCm39)	V77L	probably benign	Het
Capn15	A	T	17: 26,182,409 (GRCm39)	D566E	probably damaging	Het
Ccar2	A	G	14: 70,389,344 (GRCm39)	V76A	probably damaging	Het
Ccdc142	T	C	6: 83,084,142 (GRCm39)	C516R	probably benign	Het
Ccdc92b	T	A	11: 74,520,845 (GRCm39)	V49E		Het
Ccr7	A	G	11: 99,036,616 (GRCm39)	V102A	probably benign	Het
Cdh23	A	T	10: 60,243,168 (GRCm39)	V1069E	possibly damaging	Het
Cimip2c	A	G	5: 30,639,529 (GRCm39)	D152G		Het
Clpb	T	G	7: 101,434,605 (GRCm39)	V467G	possibly damaging	Het
Crebzf	T	A	7: 90,093,013 (GRCm39)	L264Q	probably damaging	Het
Ctif	A	G	18: 75,605,025 (GRCm39)	F505L	probably benign	Het
Cyp2j5	A	G	4: 96,529,522 (GRCm39)	I283T	probably benign	Het
Ddx39a	C	A	8: 84,447,729 (GRCm39)	H191Q	possibly damaging	Het
Dnajc9	A	T	14: 20,438,670 (GRCm39)		probably null	Het
Dock7	A	G	4: 98,854,560 (GRCm39)	L1568P	unknown	Het
Dpp10	T	C	1: 123,269,432 (GRCm39)	Y659C	probably damaging	Het
Eef1akmt3	A	G	10: 126,877,161 (GRCm39)	F35L	probably benign	Het
Etl4	A	T	2: 20,666,749 (GRCm39)	N52I	probably benign	Het
F5	T	A	1: 164,014,423 (GRCm39)	C565S	probably damaging	Het
Fam170b	T	C	14: 32,557,641 (GRCm39)	S159P	probably damaging	Het
Fitm2	A	G	2: 163,311,757 (GRCm39)	I152T	probably damaging	Het
Fn1	T	C	1: 71,625,387 (GRCm39)	D2473G	probably benign	Het
Fzd2	C	A	11: 102,496,916 (GRCm39)	D453E	probably benign	Het
Grm5	T	C	7: 87,624,560 (GRCm39)	Y376H	probably damaging	Het
H2-Q6	T	A	17: 35,644,292 (GRCm39)	H91Q	probably benign	Het
Hspa4	A	T	11: 53,160,582 (GRCm39)	V498E	possibly damaging	Het
Igsf10	A	T	3: 59,237,904 (GRCm39)	L759H	probably damaging	Het
Jph1	T	C	1: 17,161,607 (GRCm39)	T352A	probably damaging	Het
Kit	C	T	5: 75,767,689 (GRCm39)	T24M	possibly damaging	Het
Krtap28-13	T	G	1: 83,038,897 (GRCm39)	C61G	unknown	Het
Lgr5	T	A	10: 115,302,513 (GRCm39)	I293F	probably damaging	Het
Lyzl4	GGACACACTGCAGAGGGAGTGGAGAGAAAGGGACCCACCAGTGCAAGACACACTGCAGAGGGAGTGGAGAGAAAGGGACCCACCAGTGCAGGACACACTGCAGAGG	GGACACACTGCAGAGGGAGTGGAGAGAAAGGGACCCACCAGTGCAGGACACACTGCAGAGG	9: 121,413,055 (GRCm39)		probably null	Het
Mccc1	C	A	3: 36,014,185 (GRCm39)	E711*	probably null	Het
Mroh2b	C	T	15: 4,946,556 (GRCm39)	T452I	probably damaging	Het
Ms4a10	G	A	19: 10,944,451 (GRCm39)	T111I	probably damaging	Het
Myh11	A	T	16: 14,025,441 (GRCm39)	V1443E		Het
Oc90	A	G	15: 65,769,629 (GRCm39)	L76P	probably damaging	Het
Or10d3	G	A	9: 39,461,508 (GRCm39)	R220*	probably null	Het
Or4c118	T	C	2: 88,975,522 (GRCm39)		probably benign	Het
Or4f57	A	G	2: 111,791,377 (GRCm39)	F14L	probably benign	Het
Or56a42-ps1	A	T	7: 104,775,607 (GRCm39)	I290N	probably damaging	Het
Or5b97	A	G	19: 12,878,502 (GRCm39)	V214A	possibly damaging	Het
Or8b57	A	G	9: 40,004,223 (GRCm39)	V13A	probably damaging	Het
Or8c10	G	A	9: 38,279,714 (GRCm39)	V281M	possibly damaging	Het
Or8g52	A	T	9: 39,631,161 (GRCm39)	T213S	possibly damaging	Het
Pgr	C	A	9: 8,900,847 (GRCm39)	Q127K	probably benign	Het
Qrich2	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	11: 116,348,367 (GRCm39)		probably benign	Het
Rfc1	C	T	5: 65,429,851 (GRCm39)	V852M	probably damaging	Het
Rin2	T	A	2: 145,718,437 (GRCm39)	L639H	probably damaging	Het
Senp7	T	C	16: 55,975,631 (GRCm39)	S446P	probably benign	Het
Sipa1l1	A	G	12: 82,387,776 (GRCm39)	M1V	probably null	Het
Slc25a36	A	C	9: 96,982,153 (GRCm39)	S61A	probably benign	Het
Sptbn2	C	T	19: 4,788,218 (GRCm39)	R1066W	probably damaging	Het
Tgm6	A	G	2: 129,977,810 (GRCm39)	S50G	probably benign	Het
Thada	T	C	17: 84,538,584 (GRCm39)	S1475G	probably benign	Het
Tln1	G	A	4: 43,545,694 (GRCm39)	A928V	probably damaging	Het
Trip11	G	A	12: 101,859,807 (GRCm39)	L357F	probably benign	Het
Ttc3	G	T	16: 94,171,581 (GRCm39)		probably benign	Het
Ttc38	T	C	15: 85,728,659 (GRCm39)	S204P	possibly damaging	Het
Vmn1r237	A	T	17: 21,534,660 (GRCm39)	I128F	probably benign	Het
Vmn2r50	A	T	7: 9,786,990 (GRCm39)	L39*	probably null	Het
Vps4b	A	G	1: 106,707,835 (GRCm39)	V216A	possibly damaging	Het
Zfp217	T	C	2: 169,956,790 (GRCm39)	N736S	possibly damaging	Het
Zfp985	A	G	4: 147,665,742 (GRCm39)	E25G	probably damaging	Het
Zfr	C	T	15: 12,154,628 (GRCm39)	R604*	probably null	Het
Zscan18	A	G	7: 12,505,657 (GRCm39)	S577P	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
R7402:Rpap2	UTSW	5	107,768,324 (GRCm39)	nonsense	probably null
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

Predicted Primers

PCR Primer
(F):5'- ACGGTGTATCACAAGTTACGC -3'
(R):5'- GCTCTCATAACTTGGCAGTGGC -3'

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

Posted On

2022-09-12