Mutagenetix > Incidental Mutation

Incidental Mutation 'R7853:Rpap3'

607096

Institutional Source

Beutler Lab

Gene Symbol

Rpap3

Ensembl Gene

ENSMUSG00000022466

Gene Name

RNA polymerase II associated protein 3

Synonyms

D15Ertd682e, 2310042P20Rik

MMRRC Submission

045906-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7853 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

97572978-97603706 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 97576299 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 622 (A622V)

Ref Sequence

ENSEMBL: ENSMUSP00000023104 (fasta)

Gene Model

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

AlphaFold

Q9D706

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023104
AA Change: A622V

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000023104
Gene: ENSMUSG00000022466
AA Change: A622V

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: 99.6%
20x: 98.8%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	G	2: 151,315,600 (GRCm39)	I26T	probably damaging	Het
Aadacl4	G	T	4: 144,344,592 (GRCm39)	A123S	probably benign	Het
Adamts20	A	C	15: 94,243,871 (GRCm39)	C619G	probably damaging	Het
Ahcyl1	C	A	3: 107,575,604 (GRCm39)	V394L	probably benign	Het
Ankrd17	A	C	5: 90,386,825 (GRCm39)	L2378V	possibly damaging	Het
B3gnt3	T	C	8: 72,145,357 (GRCm39)	Y337C	probably damaging	Het
Bcl10	A	G	3: 145,630,266 (GRCm39)	K18R	possibly damaging	Het
Calcr	G	A	6: 3,707,499 (GRCm39)	A267V	probably benign	Het
Ces1d	C	T	8: 93,901,695 (GRCm39)	G425S	probably benign	Het
Col1a1	G	T	11: 94,838,505 (GRCm39)	R899L	unknown	Het
Commd1	C	T	11: 22,906,532 (GRCm39)	R168H	possibly damaging	Het
Cps1	T	C	1: 67,213,640 (GRCm39)	S791P	possibly damaging	Het
Ctsj	T	A	13: 61,151,884 (GRCm39)	I58F	probably damaging	Het
Cyp2j5	T	A	4: 96,529,656 (GRCm39)	K238N	probably benign	Het
Dlgap4	A	G	2: 156,547,802 (GRCm39)	D423G	probably benign	Het
Eef1ece2	T	A	16: 20,463,010 (GRCm39)		probably null	Het
Egln1	T	C	8: 125,675,256 (GRCm39)	N180D	probably benign	Het
Ehd1	T	C	19: 6,327,225 (GRCm39)	F74S	probably damaging	Het
Ext1	G	A	15: 52,970,881 (GRCm39)	A350V	probably damaging	Het
Fam186b	T	A	15: 99,178,628 (GRCm39)	I233F	probably damaging	Het
Fam193a	T	G	5: 34,597,473 (GRCm39)	N91K	probably benign	Het
Far1	T	A	7: 113,153,355 (GRCm39)	N329K	probably damaging	Het
Fhad1	A	G	4: 141,637,134 (GRCm39)	S1111P	probably damaging	Het
Fhl2	A	G	1: 43,180,984 (GRCm39)	S69P	probably damaging	Het
Flg2	C	A	3: 93,128,054 (GRCm39)	P2322Q	unknown	Het
Flvcr1	A	G	1: 190,757,843 (GRCm39)	Y108H	probably damaging	Het
Fos	T	A	12: 85,522,792 (GRCm39)	S235T	probably benign	Het
Foxf1	T	A	8: 121,811,438 (GRCm39)	S101T	probably damaging	Het
Gfer	C	A	17: 24,913,259 (GRCm39)	D198Y	probably damaging	Het
Ggps1	T	C	13: 14,229,034 (GRCm39)	I50V	probably benign	Het
Gkn2	A	G	6: 87,355,255 (GRCm39)	T155A	probably benign	Het
Gna12	C	T	5: 140,746,449 (GRCm39)	C332Y	probably damaging	Het
Hc	T	A	2: 34,900,045 (GRCm39)	Y1096F	probably damaging	Het
Hoxa3	G	A	6: 52,147,267 (GRCm39)		probably benign	Het
Hsd17b8	T	G	17: 34,246,411 (GRCm39)	D117A	probably benign	Het
Ifi206	A	T	1: 173,299,100 (GRCm39)	Y835*	probably null	Het
Ighv13-2	T	G	12: 114,321,544 (GRCm39)	E65A	probably damaging	Het
Kif5a	A	T	10: 127,071,537 (GRCm39)	Y770*	probably null	Het
Lfng	A	G	5: 140,593,384 (GRCm39)	S72G	probably benign	Het
Lipo2	C	T	19: 33,737,344 (GRCm39)		probably benign	Het
Lnpep	C	T	17: 17,783,109 (GRCm39)	S564N	probably benign	Het
Mfhas1	T	A	8: 36,057,025 (GRCm39)	L500*	probably null	Het
Mllt6	G	A	11: 97,561,142 (GRCm39)	V277I	probably benign	Het
Mroh5	C	T	15: 73,663,189 (GRCm39)	D192N	probably benign	Het
Myo1f	T	A	17: 33,795,672 (GRCm39)	V106D	probably damaging	Het
Mypn	T	A	10: 62,981,652 (GRCm39)	I643F	probably benign	Het
Nup188	A	G	2: 30,213,575 (GRCm39)	N669D	possibly damaging	Het
Or14j5	C	G	17: 38,161,714 (GRCm39)	T77R	probably damaging	Het
Or2r11	A	T	6: 42,437,573 (GRCm39)	C127S	probably damaging	Het
Or5g26	T	C	2: 85,494,689 (GRCm39)	T30A	probably benign	Het
Or8s8	T	C	15: 98,354,866 (GRCm39)	V225A	probably benign	Het
Osbpl10	A	G	9: 115,036,726 (GRCm39)	T241A	probably damaging	Het
Peg3	C	T	7: 6,711,839 (GRCm39)	E1128K	possibly damaging	Het
Plch1	C	A	3: 63,681,068 (GRCm39)	M186I	probably benign	Het
Pon3	A	C	6: 5,236,911 (GRCm39)	L152R	probably damaging	Het
Prr36	G	A	8: 4,263,905 (GRCm39)	P587L	unknown	Het
Psma2	T	A	13: 14,799,832 (GRCm39)	I192N	probably damaging	Het
Rbm11	T	C	16: 75,389,923 (GRCm39)	F30L	probably damaging	Het
Scgb2b11	T	A	7: 31,908,807 (GRCm39)	N98Y	probably damaging	Het
Siglec1	A	G	2: 130,923,212 (GRCm39)	L511P	probably damaging	Het
Sirpb1c	C	T	3: 15,887,156 (GRCm39)	V228M	probably damaging	Het
Smpd4	T	A	16: 17,460,605 (GRCm39)	Y804N	probably damaging	Het
Sult6b2	T	C	6: 142,747,524 (GRCm39)	D75G	not run	Het
Sycp3	A	C	10: 88,302,368 (GRCm39)	K119N	probably damaging	Het
Syne2	T	C	12: 76,078,278 (GRCm39)	L4703P	probably damaging	Het
Tex12	C	G	9: 50,470,523 (GRCm39)	L20F	possibly damaging	Het
Them5	T	A	3: 94,250,603 (GRCm39)	Y55*	probably null	Het
Tmem43	A	T	6: 91,458,968 (GRCm39)	D213V	probably benign	Het
Tnfrsf10b	A	C	14: 70,005,239 (GRCm39)	Q44P	unknown	Het
Trbv2	A	T	6: 41,024,836 (GRCm39)	Q84L	probably benign	Het
Trim2	C	T	3: 84,212,537 (GRCm39)		probably benign	Het
Trim36	A	G	18: 46,305,558 (GRCm39)	V475A	probably benign	Het
Ttbk1	C	A	17: 46,758,269 (GRCm39)	E788D	probably benign	Het
Ttn	T	C	2: 76,543,626 (GRCm39)	D33120G	probably damaging	Het
Ttn	T	A	2: 76,576,256 (GRCm39)	N24879I	probably damaging	Het
Ube4a	T	A	9: 44,864,308 (GRCm39)	Q76L	probably benign	Het
Vmn2r27	T	A	6: 124,168,980 (GRCm39)	I717F	probably damaging	Het
Vmn2r45	T	C	7: 8,485,987 (GRCm39)	K434E	possibly damaging	Het
Vta1	T	C	10: 14,531,461 (GRCm39)	T305A	probably damaging	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,706,067 (GRCm39)		probably benign	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
R1603:Rpap3	UTSW	15	97,599,002 (GRCm39)	missense	possibly damaging	0.53
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
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'- AACTGCATGGATCCAACTGCG -3'
(R):5'- GAGGAGCCTGTGATGTCTTC -3'

Sequencing Primer
(F):5'- GCAAGCTGCTTCTCTTAAATGGAC -3'
(R):5'- ACGTTATGATAACACAGTCTTCCC -3'

Posted On

2019-12-20