Mutagenetix > Incidental Mutation

Incidental Mutation 'R9144:Rpap3'

694521

Institutional Source

Beutler Lab

Gene Symbol

Rpap3

Ensembl Gene

ENSMUSG00000022466

Gene Name

RNA polymerase II associated protein 3

Synonyms

D15Ertd682e, 2310042P20Rik

MMRRC Submission

068935-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9144 (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 97589184 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 250 (T250M)

Ref Sequence

ENSEMBL: ENSMUSP00000023104 (fasta)

Gene Model

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

AlphaFold

Q9D706

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023104
AA Change: T250M

PolyPhen 2 Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000023104
Gene: ENSMUSG00000022466
AA Change: T250M

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: 100.0%
10x: 99.8%
20x: 99.3%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	C	T	9: 44,192,708 (GRCm39)	V176M	possibly damaging	Het
Acp5	T	C	9: 22,041,242 (GRCm39)	T62A	probably benign	Het
Alad	A	T	4: 62,430,257 (GRCm39)	D88E	probably damaging	Het
Arap1	T	C	7: 101,047,602 (GRCm39)	I803T	probably damaging	Het
Bckdhb	C	A	9: 83,894,662 (GRCm39)	T312K	probably damaging	Het
Cfap206	A	G	4: 34,722,667 (GRCm39)	V138A	possibly damaging	Het
Cntnap5b	A	G	1: 99,978,512 (GRCm39)	Y176C	probably damaging	Het
Creld1	A	T	6: 113,461,468 (GRCm39)	T63S	probably damaging	Het
Dsc1	G	A	18: 20,218,639 (GRCm39)	T878I	possibly damaging	Het
Ehbp1	C	T	11: 22,018,463 (GRCm39)	R873H	probably damaging	Het
Eml2	T	C	7: 18,935,564 (GRCm39)	V466A	possibly damaging	Het
Ercc5	T	A	1: 44,213,511 (GRCm39)	Y836N	probably damaging	Het
Fgf20	T	C	8: 40,732,958 (GRCm39)	D160G		Het
Fgfr4	A	T	13: 55,315,837 (GRCm39)		probably null	Het
Fpr1	A	T	17: 18,097,626 (GRCm39)	V121D	probably damaging	Het
Gabbr1	A	G	17: 37,362,049 (GRCm39)	K218E	probably benign	Het
Galnt12	T	C	4: 47,113,822 (GRCm39)	L372P		Het
Gldc	A	G	19: 30,114,593 (GRCm39)	F439S		Het
Gm6465	A	G	5: 11,896,726 (GRCm39)	T32A	possibly damaging	Het
Has2	T	C	15: 56,545,588 (GRCm39)	R5G	probably benign	Het
Hexb	T	C	13: 97,317,599 (GRCm39)	Y366C	probably damaging	Het
Ier2	C	T	8: 85,389,266 (GRCm39)	V39I	probably benign	Het
Ifi214	A	G	1: 173,355,434 (GRCm39)	S125P	possibly damaging	Het
Kcnk15	A	G	2: 163,700,451 (GRCm39)	D230G	probably benign	Het
Kdm3b	A	T	18: 34,927,558 (GRCm39)	Y140F	probably benign	Het
Klk1b11	T	C	7: 43,427,055 (GRCm39)	V140A	probably damaging	Het
Klra5	C	T	6: 129,886,911 (GRCm39)	C39Y	probably benign	Het
Ltbp2	T	C	12: 84,856,426 (GRCm39)	I699M	probably damaging	Het
Mak	C	A	13: 41,201,594 (GRCm39)	E256*	probably null	Het
Mark3	C	A	12: 111,606,376 (GRCm39)	N496K	probably benign	Het
Mex3c	A	G	18: 73,723,397 (GRCm39)	T497A	probably benign	Het
Myt1	A	G	2: 181,467,805 (GRCm39)	I1160V	possibly damaging	Het
Notch1	T	C	2: 26,349,587 (GRCm39)	T2518A	probably benign	Het
Nsg1	A	G	5: 38,302,088 (GRCm39)	Y108H	probably benign	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Obscn	A	G	11: 58,960,103 (GRCm39)	S3255P	possibly damaging	Het
Or5w18	A	G	2: 87,633,482 (GRCm39)	T246A	probably benign	Het
Plxna4	A	G	6: 32,162,496 (GRCm39)	V1339A	possibly damaging	Het
Ppp2r5e	C	T	12: 75,506,468 (GRCm39)	R433H	possibly damaging	Het
Pwwp2a	T	A	11: 43,596,721 (GRCm39)	C629S	probably benign	Het
Rasl10a	T	A	11: 5,008,473 (GRCm39)	S56R	probably benign	Het
Rhob	A	G	12: 8,549,124 (GRCm39)	V170A	probably damaging	Het
Rlf	A	T	4: 121,003,900 (GRCm39)	N1803K	probably benign	Het
Rmdn3	G	T	2: 118,969,847 (GRCm39)	Q405K	probably benign	Het
Rraga	T	C	4: 86,494,796 (GRCm39)	I214T	probably damaging	Het
Rundc3a	A	T	11: 102,290,862 (GRCm39)	Q315L	probably benign	Het
Sh3bgr	T	A	16: 96,001,931 (GRCm39)	S10T	probably benign	Het
Skint6	A	T	4: 112,985,102 (GRCm39)	S421R	possibly damaging	Het
Spag16	G	C	1: 70,420,459 (GRCm39)	L482F	probably damaging	Het
Sppl2a	A	G	2: 126,769,743 (GRCm39)	S38P	probably benign	Het
Tex14	T	A	11: 87,413,423 (GRCm39)		probably null	Het
Tmem181a	G	A	17: 6,346,048 (GRCm39)	V181M	possibly damaging	Het
Traf3	T	A	12: 111,228,294 (GRCm39)	S502T	probably benign	Het
Trav9n-4	T	G	14: 53,532,236 (GRCm39)	V30G	probably damaging	Het
Trpm2	C	A	10: 77,765,122 (GRCm39)	V960L	probably benign	Het
Unc13b	T	A	4: 43,173,649 (GRCm39)	D1492E	unknown	Het
Usp44	A	G	10: 93,681,645 (GRCm39)	T32A	probably benign	Het
Vmn1r38	A	G	6: 66,753,612 (GRCm39)	M168T	probably benign	Het
Vmn1r9	A	G	6: 57,048,788 (GRCm39)	I288V	probably benign	Het
Zfhx3	A	G	8: 109,676,794 (GRCm39)	T2615A	possibly damaging	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
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
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'- GGCGTCAGTAACTCAAATGTTG -3'
(R):5'- AACAGTGCCTGGACTGTGTAG -3'

Sequencing Primer
(F):5'- CAAATGTTGAATAAGTAGCCTCCAG -3'
(R):5'- ACCAGCTATATTTGCTGGATACTG -3'

Posted On

2022-01-20