Mutagenetix > Incidental Mutation

Incidental Mutation 'R1698:Rpap2'

192393

Institutional Source

Beutler Lab

Gene Symbol

Rpap2

Ensembl Gene

ENSMUSG00000033773

Gene Name

RNA polymerase II associated protein 2

Synonyms

MMRRC Submission

039731-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1698 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107745239-107809704 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107751416 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 8 (Y8H)

Ref Sequence

ENSEMBL: ENSMUSP00000142510 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065422] [ENSMUST00000112650] [ENSMUST00000112651] [ENSMUST00000112654] [ENSMUST00000112655] [ENSMUST00000129483] [ENSMUST00000150074]

AlphaFold

Q8VC34

Predicted Effect

probably damaging
Transcript: ENSMUST00000065422
AA Change: Y87H

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

SMART Domains

Protein: ENSMUSP00000070209
Gene: ENSMUSG00000033773
AA Change: Y87H

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: Y8H

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

SMART Domains

Protein: ENSMUSP00000108269
Gene: ENSMUSG00000033773
AA Change: Y8H

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: Y10H

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

SMART Domains

Protein: ENSMUSP00000108270
Gene: ENSMUSG00000033773
AA Change: Y10H

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: Y87H

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

SMART Domains

Protein: ENSMUSP00000108273
Gene: ENSMUSG00000033773
AA Change: Y87H

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: Y87H

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

SMART Domains

Protein: ENSMUSP00000108274
Gene: ENSMUSG00000033773
AA Change: Y87H

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 damaging
Transcript: ENSMUST00000129483
AA Change: Y8H

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

SMART Domains

Protein: ENSMUSP00000142510
Gene: ENSMUSG00000033773
AA Change: Y8H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147284

Predicted Effect

probably benign
Transcript: ENSMUST00000150074

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	C	6: 121,622,117 (GRCm39)	E340A	possibly damaging	Het
Abca13	A	G	11: 9,264,507 (GRCm39)	D2963G	probably benign	Het
Actn3	T	C	19: 4,912,235 (GRCm39)	D783G	possibly damaging	Het
Adamtsl2	A	G	2: 26,993,139 (GRCm39)	E723G	possibly damaging	Het
Agrn	G	T	4: 156,251,015 (GRCm39)	Q1931K	probably benign	Het
Ankrd27	G	A	7: 35,313,946 (GRCm39)	A426T	probably benign	Het
Atg9b	C	A	5: 24,593,186 (GRCm39)	G406C	probably damaging	Het
C1ra	A	T	6: 124,499,725 (GRCm39)	Q637L	probably benign	Het
Cdhr2	A	T	13: 54,867,394 (GRCm39)	M438L	probably benign	Het
Cep350	T	C	1: 155,829,104 (GRCm39)	I267V	possibly damaging	Het
Chrna5	A	G	9: 54,911,926 (GRCm39)	Y138C	probably damaging	Het
Chst3	T	A	10: 60,021,525 (GRCm39)	M441L	probably benign	Het
Cmya5	G	A	13: 93,200,027 (GRCm39)	P3434S	probably benign	Het
Cog2	T	A	8: 125,252,422 (GRCm39)	L42Q	probably damaging	Het
Cpq	A	T	15: 33,250,272 (GRCm39)	I210F	probably benign	Het
Crnn	C	A	3: 93,055,765 (GRCm39)	Q184K	probably damaging	Het
Csnka2ip	A	T	16: 64,298,422 (GRCm39)	Y647*	probably null	Het
D5Ertd579e	C	T	5: 36,761,874 (GRCm39)	R1331H	probably benign	Het
Dennd5a	C	T	7: 109,516,587 (GRCm39)		probably null	Het
Dync1h1	A	G	12: 110,593,426 (GRCm39)	Q1231R	possibly damaging	Het
Erbin	T	A	13: 103,970,239 (GRCm39)	I1126F	possibly damaging	Het
Fastkd1	T	C	2: 69,532,813 (GRCm39)	D518G	probably benign	Het
Gcc1	A	G	6: 28,421,110 (GRCm39)	L69P	possibly damaging	Het
Gkn1	T	C	6: 87,324,151 (GRCm39)	Y119C	probably damaging	Het
Gmpr	T	G	13: 45,670,520 (GRCm39)	W81G	probably benign	Het
Gyg1	T	A	3: 20,192,215 (GRCm39)	I236F	probably benign	Het
Hcrtr2	T	C	9: 76,153,735 (GRCm39)	Y219C	probably damaging	Het
Hmcn1	G	A	1: 150,441,120 (GRCm39)	Q5379*	probably null	Het
Kank1	T	C	19: 25,388,681 (GRCm39)	C785R	probably benign	Het
Lrp1b	A	T	2: 40,741,818 (GRCm39)	C3036*	probably null	Het
Mdga2	T	C	12: 66,736,109 (GRCm39)	D373G	probably damaging	Het
Mgat2	A	T	12: 69,232,493 (GRCm39)	I356F	probably benign	Het
Miga2	A	G	2: 30,268,009 (GRCm39)	D346G	probably damaging	Het
Mprip	T	A	11: 59,651,084 (GRCm39)	L1596Q	possibly damaging	Het
Mroh2b	G	A	15: 4,943,622 (GRCm39)	R386Q	probably benign	Het
Mst1r	T	A	9: 107,797,179 (GRCm39)	S1349R	probably benign	Het
Mtmr3	C	T	11: 4,442,825 (GRCm39)	R403H	possibly damaging	Het
Mycbpap	G	A	11: 94,398,969 (GRCm39)	Q460*	probably null	Het
Myo9a	T	C	9: 59,775,464 (GRCm39)	V1025A	probably benign	Het
Ncapd2	C	T	6: 125,145,553 (GRCm39)	E1365K	probably null	Het
Nkiras2	C	A	11: 100,515,989 (GRCm39)	D105E	probably damaging	Het
Nolc1	T	G	19: 46,069,870 (GRCm39)		probably null	Het
Nos1	T	C	5: 118,005,297 (GRCm39)	F6L	probably benign	Het
Or10j3	A	T	1: 173,030,938 (GRCm39)	N5I	probably damaging	Het
Or12e1	G	T	2: 87,022,081 (GRCm39)	V17L	probably benign	Het
Or2t46	T	C	11: 58,472,077 (GRCm39)	Y136H	probably damaging	Het
Or2w1b	C	T	13: 21,300,735 (GRCm39)	T291I	probably benign	Het
Or4f54	T	A	2: 111,122,905 (GRCm39)	C97*	probably null	Het
Or8b46	T	A	9: 38,450,552 (GRCm39)	Y120*	probably null	Het
Pfkm	A	G	15: 98,026,199 (GRCm39)	E598G	possibly damaging	Het
Phf2	A	T	13: 48,961,106 (GRCm39)	D861E	unknown	Het
Polr2a	A	G	11: 69,630,703 (GRCm39)		probably null	Het
Popdc2	G	A	16: 38,189,853 (GRCm39)	V167M	probably damaging	Het
Ptpn22	T	C	3: 103,793,114 (GRCm39)	S422P	probably benign	Het
Rasa2	T	C	9: 96,450,428 (GRCm39)	K490R	possibly damaging	Het
Rbfox3	T	A	11: 118,386,047 (GRCm39)	D286V	probably damaging	Het
Rdh13	A	G	7: 4,430,790 (GRCm39)	W223R	probably damaging	Het
Riok3	T	C	18: 12,261,986 (GRCm39)	S7P	probably benign	Het
Rnaseh2b	A	G	14: 62,591,081 (GRCm39)	E144G	probably benign	Het
Rnf20	C	T	4: 49,651,498 (GRCm39)	Q655*	probably null	Het
Slc5a10	T	C	11: 61,600,428 (GRCm39)	Y181C	probably benign	Het
Snd1	G	T	6: 28,888,252 (GRCm39)	G896*	probably null	Het
Spast	C	T	17: 74,663,155 (GRCm39)	Q158*	probably null	Het
Tas2r104	G	A	6: 131,662,547 (GRCm39)	S54F	probably damaging	Het
Tcaf2	C	T	6: 42,604,951 (GRCm39)	W611*	probably null	Het
Thoc2l	C	T	5: 104,668,376 (GRCm39)	A966V	probably benign	Het
Timp4	G	A	6: 115,227,364 (GRCm39)		probably null	Het
Tmem45a	G	A	16: 56,643,933 (GRCm39)	S72L	probably benign	Het
Tnrc18	T	C	5: 142,774,458 (GRCm39)	T124A	possibly damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Ttn	T	C	2: 76,773,259 (GRCm39)	D2381G	probably damaging	Het
Uevld	T	C	7: 46,605,372 (GRCm39)	T41A	possibly damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Unc5d	T	C	8: 29,186,506 (GRCm39)	E527G	probably damaging	Het
Vmn2r125	C	T	4: 156,703,333 (GRCm39)	T237I	probably benign	Het
Vmn2r63	A	C	7: 42,583,038 (GRCm39)	I59S	probably benign	Het
Vps72	G	A	3: 95,026,006 (GRCm39)	S106N	probably benign	Het
Zan	A	C	5: 137,407,931 (GRCm39)		probably benign	Het
Zbtb38	T	C	9: 96,567,515 (GRCm39)	K1190E	probably benign	Het
Zc3h6	T	C	2: 128,859,278 (GRCm39)	V1103A	probably benign	Het
Zfp407	G	A	18: 84,580,282 (GRCm39)	T277I	probably damaging	Het
Zfp804b	A	G	5: 6,819,509 (GRCm39)	S1149P	probably 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
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
R9631:Rpap2	UTSW	5	107,768,292 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAGCTCAGCCATCTTTTCAAAGTGT -3'
(R):5'- GCCACTTTCAATAGCTCTGAACTTACCT -3'

Sequencing Primer
(F):5'- AAGTGTTTAAAGTAACAATGTTACCG -3'
(R):5'- AATAGCTCTGAACTTACCTTCCTTTC -3'

Posted On

2014-05-14