Mutagenetix > Incidental Mutation

Incidental Mutation 'R1603:Rpap3'

176285

Institutional Source

Beutler Lab

Gene Symbol

Rpap3

Ensembl Gene

ENSMUSG00000022466

Gene Name

RNA polymerase II associated protein 3

Synonyms

D15Ertd682e, 2310042P20Rik

MMRRC Submission

039640-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1603 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

97572978-97603706 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97599002 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 82 (T82A)

Ref Sequence

ENSEMBL: ENSMUSP00000023104 (fasta)

Gene Model

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

AlphaFold

Q9D706

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023104
AA Change: T82A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000023104
Gene: ENSMUSG00000022466
AA Change: T82A

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

0.0634

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.4%
20x: 89.3%

Validation Efficiency

96% (65/68)

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
1110032F04Rik	G	A	3: 68,777,546 (GRCm39)	S169N	probably benign	Het
Ace	T	A	11: 105,862,925 (GRCm39)	S315R	probably benign	Het
Adamtsl1	A	G	4: 86,333,767 (GRCm39)	I1491V	probably benign	Het
Adrb2	A	T	18: 62,312,579 (GRCm39)	M82K	probably damaging	Het
Aebp2	A	G	6: 140,587,979 (GRCm39)	N350D	probably damaging	Het
Ankrd42	T	C	7: 92,268,899 (GRCm39)		probably benign	Het
Asap1	A	T	15: 64,001,106 (GRCm39)	C492S	probably damaging	Het
Atp8b3	C	A	10: 80,361,619 (GRCm39)	A768S	probably benign	Het
Chga	T	A	12: 102,530,866 (GRCm39)		probably null	Het
Clca4b	A	G	3: 144,627,780 (GRCm39)	V397A	probably benign	Het
Cntnap5a	A	C	1: 116,339,831 (GRCm39)	T697P	possibly damaging	Het
Col12a1	T	C	9: 79,520,244 (GRCm39)	Q2810R	probably damaging	Het
Dchs1	G	T	7: 105,411,977 (GRCm39)	R1380S	probably benign	Het
Dgkg	T	A	16: 22,388,909 (GRCm39)		probably benign	Het
Dlgap3	G	A	4: 127,089,021 (GRCm39)	G206R	probably damaging	Het
Dnah5	A	G	15: 28,295,131 (GRCm39)		probably benign	Het
Dnah5	A	T	15: 28,449,326 (GRCm39)	I4243L	probably benign	Het
Eif1ad16	C	A	12: 87,985,134 (GRCm39)	E136D	probably benign	Het
Fbxw22	G	T	9: 109,207,915 (GRCm39)	P452H	probably benign	Het
Fgl1	T	A	8: 41,650,055 (GRCm39)	D242V	probably damaging	Het
Gba2	C	T	4: 43,567,823 (GRCm39)	G794R	probably damaging	Het
Gimap7	A	T	6: 48,700,864 (GRCm39)	D150V	probably damaging	Het
Gm5334	T	C	7: 68,268,620 (GRCm39)	V13A	probably benign	Het
Grk5	T	C	19: 61,057,800 (GRCm39)	F167L	probably benign	Het
Ice1	A	G	13: 70,751,472 (GRCm39)	L1538P	probably benign	Het
Idh2	T	G	7: 79,748,906 (GRCm39)	E125A	probably damaging	Het
Kmt2a	A	T	9: 44,752,858 (GRCm39)		probably null	Het
Kras	A	T	6: 145,170,871 (GRCm39)	L168*	probably null	Het
Lrrc66	G	A	5: 73,764,769 (GRCm39)	S758L	possibly damaging	Het
Mak	T	C	13: 41,195,582 (GRCm39)	D377G	possibly damaging	Het
Matn2	T	C	15: 34,388,914 (GRCm39)	C335R	probably damaging	Het
Mcoln2	C	T	3: 145,885,977 (GRCm39)	S276F	probably damaging	Het
Morc3	C	A	16: 93,663,391 (GRCm39)	N531K	probably benign	Het
Obp2a	G	A	2: 25,592,757 (GRCm39)	S175N	probably benign	Het
Or2ak6	T	C	11: 58,593,286 (GRCm39)	V253A	probably benign	Het
Or4n4b	T	G	14: 50,536,491 (GRCm39)	I92L	possibly damaging	Het
Or5an1b	A	T	19: 12,299,348 (GRCm39)	V281E	probably damaging	Het
Osbpl3	C	A	6: 50,300,073 (GRCm39)	K510N	probably damaging	Het
Pcnx2	G	A	8: 126,566,365 (GRCm39)	S1026F	probably damaging	Het
Pom121l2	A	T	13: 22,167,514 (GRCm39)	D595V	probably damaging	Het
Poteg	T	A	8: 27,938,033 (GRCm39)	M1K	probably null	Het
Rbl1	G	A	2: 157,017,579 (GRCm39)	L547F	possibly damaging	Het
Sema7a	G	A	9: 57,867,959 (GRCm39)	D512N	probably benign	Het
Sgpl1	C	T	10: 60,941,230 (GRCm39)	V294M	possibly damaging	Het
Slc22a28	A	G	19: 8,040,674 (GRCm39)	S526P	probably damaging	Het
Spata31e2	T	A	1: 26,724,650 (GRCm39)	R177W	probably damaging	Het
Tent2	G	A	13: 93,312,073 (GRCm39)	A209V	probably benign	Het
Trim30b	T	G	7: 104,015,019 (GRCm39)	Q123P	possibly damaging	Het
Trpm5	A	G	7: 142,638,946 (GRCm39)	L275P	probably benign	Het
Ttc33	A	G	15: 5,219,275 (GRCm39)	E71G	probably damaging	Het
Unc13d	T	C	11: 115,964,481 (GRCm39)	T288A	possibly damaging	Het
Unc93a	T	A	17: 13,328,521 (GRCm39)	E444V	probably benign	Het
Usf3	T	A	16: 44,038,535 (GRCm39)	M1005K	probably benign	Het
Vmn2r91	T	C	17: 18,326,405 (GRCm39)	I230T	probably benign	Het
Wdr49	G	A	3: 75,304,177 (GRCm39)	Q448*	probably null	Het
Zfp939	T	A	7: 39,122,695 (GRCm39)		noncoding transcript	Het

Other mutations in Rpap3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01835:Rpap3	APN	15	97,601,120 (GRCm39)	missense	possibly damaging	0.85
IGL02714:Rpap3	APN	15	97,594,458 (GRCm39)	missense	possibly damaging	0.93
IGL03409:Rpap3	APN	15	97,579,620 (GRCm39)	missense	possibly damaging	0.46
R0095:Rpap3	UTSW	15	97,578,417 (GRCm39)	splice site	probably benign
R0847:Rpap3	UTSW	15	97,601,082 (GRCm39)	critical splice donor site	probably null
R1496:Rpap3	UTSW	15	97,584,364 (GRCm39)	missense	possibly damaging	0.86
R1562:Rpap3	UTSW	15	97,592,098 (GRCm39)	missense	possibly damaging	0.86
R1801:Rpap3	UTSW	15	97,592,090 (GRCm39)	missense	possibly damaging	0.73
R2163:Rpap3	UTSW	15	97,578,229 (GRCm39)	missense	possibly damaging	0.71
R4969:Rpap3	UTSW	15	97,584,407 (GRCm39)	missense	probably benign
R5226:Rpap3	UTSW	15	97,601,104 (GRCm39)	missense	possibly damaging	0.53
R6610:Rpap3	UTSW	15	97,586,049 (GRCm39)	missense	probably benign	0.24
R6613:Rpap3	UTSW	15	97,579,722 (GRCm39)	critical splice acceptor site	probably null
R7040:Rpap3	UTSW	15	97,576,993 (GRCm39)	missense	possibly damaging	0.51
R7429:Rpap3	UTSW	15	97,586,031 (GRCm39)	missense	possibly damaging	0.96
R7430:Rpap3	UTSW	15	97,586,031 (GRCm39)	missense	possibly damaging	0.96
R7829:Rpap3	UTSW	15	97,579,589 (GRCm39)	missense	probably benign	0.02
R7853:Rpap3	UTSW	15	97,576,299 (GRCm39)	missense	possibly damaging	0.92
R8223:Rpap3	UTSW	15	97,589,185 (GRCm39)	missense	probably benign	0.02
R8366:Rpap3	UTSW	15	97,579,548 (GRCm39)	missense	probably benign	0.18
R8897:Rpap3	UTSW	15	97,585,998 (GRCm39)	missense	probably benign	0.02
R9043:Rpap3	UTSW	15	97,584,443 (GRCm39)	missense	possibly damaging	0.86
R9144:Rpap3	UTSW	15	97,589,184 (GRCm39)	missense	possibly damaging	0.68
R9453:Rpap3	UTSW	15	97,579,641 (GRCm39)	missense
R9530:Rpap3	UTSW	15	97,579,655 (GRCm39)	missense	probably benign
YA93:Rpap3	UTSW	15	97,591,114 (GRCm39)	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- ACGCACAGGTCCTAAGGACACT -3'
(R):5'- tgtgtctccagtccACATCATCAGT -3'

Sequencing Primer
(F):5'- CAGGTCCTAAGGACACTGTTAC -3'
(R):5'- tccagggcatccagagaag -3'

Posted On

2014-04-24