Mutagenetix > Incidental Mutation

Incidental Mutation 'R7040:Rpap3'

547018

Institutional Source

Beutler Lab

Gene Symbol

Rpap3

Ensembl Gene

ENSMUSG00000022466

Gene Name

RNA polymerase II associated protein 3

Synonyms

2310042P20Rik, D15Ertd682e

MMRRC Submission

Accession Numbers

Genbank: NM_028003; MGI: 1277218

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7040 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

97675097-97705825 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 97679112 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 585 (V585A)

Ref Sequence

ENSEMBL: ENSMUSP00000023104 (fasta)

Gene Model

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

AlphaFold

Q9D706

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023104
AA Change: V585A

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000023104
Gene: ENSMUSG00000022466
AA Change: V585A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	A	G	7: 128,236,725	L232P	possibly damaging	Het
Acaa1a	T	C	9: 119,349,038	V312A	probably damaging	Het
Bmp2	A	G	2: 133,561,684	D385G	probably damaging	Het
C1qtnf9	T	C	14: 60,779,792	V257A	probably damaging	Het
Cd3d	G	A	9: 44,985,693	V122I	probably damaging	Het
Cdc37	T	C	9: 21,142,223	E199G	probably damaging	Het
Crb2	T	A	2: 37,787,684	D326E	probably benign	Het
Cyp2c29	A	C	19: 39,330,337	K420N	possibly damaging	Het
Cyp2g1	A	C	7: 26,820,759	D472A	probably damaging	Het
Dab2	A	C	15: 6,422,251	H116P	probably damaging	Het
Dnah7b	G	C	1: 46,236,809	E2619Q	probably benign	Het
Dsg4	A	T	18: 20,451,852	M208L	probably benign	Het
Eif4enif1	T	G	11: 3,234,040	V521G	probably benign	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Fpr-rs6	A	G	17: 20,182,934	M55T	probably damaging	Het
Grhpr	A	G	4: 44,985,362	S101G	probably damaging	Het
Kif15	T	A	9: 123,011,614	D33E	possibly damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,850,378		probably benign	Het
Lama4	A	G	10: 39,060,162	Q611R	possibly damaging	Het
Lrrc47	T	A	4: 154,020,452	*123R	probably null	Het
Map4k3	A	C	17: 80,680,915	V36G	probably damaging	Het
Mme	T	A	3: 63,368,923	I707N	probably damaging	Het
Muc2	A	G	7: 141,751,457	E166G	unknown	Het
Mucl1	T	A	15: 103,753,578	T108S	possibly damaging	Het
Myo1h	A	T	5: 114,359,744	D53V	possibly damaging	Het
Naa15	T	A	3: 51,472,784	L811Q	possibly damaging	Het
Nalcn	T	C	14: 123,287,855	T1487A	probably benign	Het
Nme8	A	T	13: 19,694,328	L87H	probably damaging	Het
Nr2e1	A	G	10: 42,568,378	V245A	probably damaging	Het
Nt5c2	A	T	19: 46,893,535	F291Y	possibly damaging	Het
Olfr1337	T	C	4: 118,781,986	M200V	probably benign	Het
Olfr1508	T	C	14: 52,463,475	D178G	possibly damaging	Het
Olfr556	A	T	7: 102,670,730	Q270L	probably benign	Het
Olfr668	A	T	7: 104,925,510	C85S	probably benign	Het
Ooep	T	C	9: 78,378,401	N43S	possibly damaging	Het
Ovch2	A	T	7: 107,796,565	I82N	probably damaging	Het
Palb2	A	T	7: 122,114,399	M524K	possibly damaging	Het
Patj	T	C	4: 98,441,080	S524P	probably benign	Het
Patl1	T	A	19: 11,929,954	Y401N	possibly damaging	Het
Pcdhb20	A	T	18: 37,504,717	T99S	probably benign	Het
Plcb4	G	A	2: 135,932,262	A155T	probably benign	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Spen	T	A	4: 141,494,382	T302S	unknown	Het
Tenm4	G	A	7: 96,553,496	R106H	probably benign	Het
Ube2o	T	C	11: 116,541,860	E760G	probably benign	Het
Uimc1	T	A	13: 55,075,454		probably null	Het
Usp16	C	T	16: 87,480,929	A689V	probably damaging	Het
Vmn2r60	G	A	7: 42,142,242	A530T	probably benign	Het
Vps8	T	A	16: 21,575,022	M1185K	probably damaging	Het
Vwa8	T	C	14: 78,912,205	S136P	probably damaging	Het
Ythdc2	A	G	18: 44,834,462	N175S	probably benign	Het
Zfp160	A	T	17: 21,026,532	H448L	probably damaging	Het
Zfp90	T	A	8: 106,425,009	C451*	probably null	Het
Zfp945	A	G	17: 22,852,290	C212R	probably damaging	Het

Other mutations in Rpap3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01835:Rpap3	APN	15	97703239	missense	possibly damaging	0.85
IGL02714:Rpap3	APN	15	97696577	missense	possibly damaging	0.93
IGL03409:Rpap3	APN	15	97681739	missense	possibly damaging	0.46
R0095:Rpap3	UTSW	15	97680536	splice site	probably benign
R0847:Rpap3	UTSW	15	97703201	critical splice donor site	probably null
R1496:Rpap3	UTSW	15	97686483	missense	possibly damaging	0.86
R1562:Rpap3	UTSW	15	97694217	missense	possibly damaging	0.86
R1603:Rpap3	UTSW	15	97701121	missense	possibly damaging	0.53
R1801:Rpap3	UTSW	15	97694209	missense	possibly damaging	0.73
R2163:Rpap3	UTSW	15	97680348	missense	possibly damaging	0.71
R4969:Rpap3	UTSW	15	97686526	missense	probably benign
R5226:Rpap3	UTSW	15	97703223	missense	possibly damaging	0.53
R6610:Rpap3	UTSW	15	97688168	missense	probably benign	0.24
R6613:Rpap3	UTSW	15	97681841	critical splice acceptor site	probably null
R7429:Rpap3	UTSW	15	97688150	missense	possibly damaging	0.96
R7430:Rpap3	UTSW	15	97688150	missense	possibly damaging	0.96
R7829:Rpap3	UTSW	15	97681708	missense	probably benign	0.02
R7853:Rpap3	UTSW	15	97678418	missense	possibly damaging	0.92
R8223:Rpap3	UTSW	15	97691304	missense	probably benign	0.02
R8366:Rpap3	UTSW	15	97681667	missense	probably benign	0.18
R8897:Rpap3	UTSW	15	97688117	missense	probably benign	0.02
R9043:Rpap3	UTSW	15	97686562	missense	possibly damaging	0.86
R9144:Rpap3	UTSW	15	97691303	missense	possibly damaging	0.68
R9453:Rpap3	UTSW	15	97681760	missense
R9530:Rpap3	UTSW	15	97681774	missense	probably benign
YA93:Rpap3	UTSW	15	97693233	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- ACCTTACCAGGAAGCTGATGC -3'
(R):5'- CTCACTGTCTCATCAAGTATTAGTG -3'

Sequencing Primer
(F):5'- GGTAGCTCACAACCATCTGTAATG -3'
(R):5'- GTCAAATTCAACTTTCTCTT -3'

Posted On

2019-05-13