Mutagenetix > Incidental Mutation

Incidental Mutation 'R9475:Rpap2'

715696

Institutional Source

Beutler Lab

Gene Symbol

Rpap2

Ensembl Gene

ENSMUSG00000033773

Gene Name

RNA polymerase II associated protein 2

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9475 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

107745239-107809704 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 107768455 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 431 (L431Q)

Ref Sequence

ENSEMBL: ENSMUSP00000070209 (fasta)

Gene Model

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

AlphaFold

Q8VC34

Predicted Effect

probably damaging
Transcript: ENSMUST00000065422
AA Change: L431Q

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

SMART Domains

Protein: ENSMUSP00000070209
Gene: ENSMUSG00000033773
AA Change: L431Q

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

SMART Domains

Protein: ENSMUSP00000108269
Gene: ENSMUSG00000033773
AA Change: L352Q

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: L354Q

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

SMART Domains

Protein: ENSMUSP00000108270
Gene: ENSMUSG00000033773
AA Change: L354Q

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: L431Q

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

SMART Domains

Protein: ENSMUSP00000108273
Gene: ENSMUSG00000033773
AA Change: L431Q

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: L431Q

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

SMART Domains

Protein: ENSMUSP00000108274
Gene: ENSMUSG00000033773
AA Change: L431Q

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	A	T	7: 45,665,892 (GRCm39)	W243R	probably damaging	Het
Ablim1	T	G	19: 57,227,612 (GRCm39)	K18Q	probably benign	Het
Adamts18	T	A	8: 114,504,570 (GRCm39)	N174Y	possibly damaging	Het
Afg2a	T	C	3: 37,486,058 (GRCm39)	V260A	probably benign	Het
Agbl2	A	G	2: 90,614,437 (GRCm39)	H23R	probably benign	Het
Akap6	T	G	12: 53,057,335 (GRCm39)	Y934D	probably damaging	Het
Alas1	C	T	9: 106,111,261 (GRCm39)	S635N	probably benign	Het
Ankrd24	A	G	10: 81,478,133 (GRCm39)		probably null	Het
Atp6v0a4	A	G	6: 38,037,917 (GRCm39)	L560P	probably damaging	Het
Cacng1	C	T	11: 107,607,118 (GRCm39)	V34M	possibly damaging	Het
Clcn3	C	T	8: 61,387,551 (GRCm39)	A233T	probably damaging	Het
Cntnap3	A	G	13: 64,946,949 (GRCm39)	F160S	probably damaging	Het
Ctnnd2	A	G	15: 30,881,276 (GRCm39)	S719G	probably damaging	Het
Exosc2	G	A	2: 31,564,755 (GRCm39)	V107I	probably benign	Het
Fam83b	C	A	9: 76,399,085 (GRCm39)	V673F	probably benign	Het
Fras1	T	C	5: 96,927,929 (GRCm39)	F3781L	probably damaging	Het
Gal3st1	T	A	11: 3,948,660 (GRCm39)	L289H	probably damaging	Het
Garem1	T	C	18: 21,281,370 (GRCm39)	I329V	probably benign	Het
Gli3	G	A	13: 15,900,296 (GRCm39)	G1228S	possibly damaging	Het
Gpbp1l1	T	C	4: 116,431,558 (GRCm39)	F72S	possibly damaging	Het
Hao1	T	A	2: 134,390,181 (GRCm39)	M53L	probably benign	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,193,999 (GRCm39)		probably benign	Het
Iqcm	A	G	8: 76,480,083 (GRCm39)	E347G	probably damaging	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kcnrg	A	G	14: 61,845,106 (GRCm39)	I49V	possibly damaging	Het
Lrrc8e	G	A	8: 4,285,346 (GRCm39)	G524S	probably benign	Het
Lrrn1	A	T	6: 107,545,261 (GRCm39)	Y353F	probably damaging	Het
Mdn1	A	G	4: 32,739,849 (GRCm39)	D3701G	possibly damaging	Het
Mtmr2	A	G	9: 13,716,767 (GRCm39)	T623A	probably benign	Het
Ndst4	C	A	3: 125,508,296 (GRCm39)	S287*	probably null	Het
Ntrk3	A	C	7: 77,952,480 (GRCm39)	M579R	probably benign	Het
Oas1a	G	A	5: 121,037,317 (GRCm39)	L237F	probably damaging	Het
Or2aj4	T	C	16: 19,385,270 (GRCm39)	D121G	probably benign	Het
Or5bw2	A	T	7: 6,573,818 (GRCm39)	Y276F	probably damaging	Het
Or7e166	T	C	9: 19,624,939 (GRCm39)	M272T	probably benign	Het
Paqr5	T	A	9: 61,863,507 (GRCm39)	I272F	probably damaging	Het
Pcdha11	T	A	18: 37,140,591 (GRCm39)	V740E	probably damaging	Het
Pdgfra	A	C	5: 75,328,588 (GRCm39)	N240T	possibly damaging	Het
Plbd2	G	A	5: 120,632,445 (GRCm39)	Q186*	probably null	Het
Plce1	G	A	19: 38,766,337 (GRCm39)	E2121K	possibly damaging	Het
Ppargc1a	C	A	5: 51,653,080 (GRCm39)	G161C	probably damaging	Het
Ptprk	T	C	10: 28,210,476 (GRCm39)	I166T	possibly damaging	Het
Rhox8	GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	X: 36,966,991 (GRCm39)		probably benign	Het
Rslcan18	T	A	13: 67,250,128 (GRCm39)	K160*	probably null	Het
Sema7a	T	C	9: 57,862,188 (GRCm39)	F180L	probably benign	Het
Sh2d3c	C	T	2: 32,643,039 (GRCm39)	L741F	probably damaging	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Skic2	A	T	17: 35,060,078 (GRCm39)	D897E	probably benign	Het
Skint6	C	T	4: 112,664,037 (GRCm39)		probably null	Het
Slc35f3	T	C	8: 127,108,993 (GRCm39)	S181P	probably damaging	Het
Slc4a9	A	T	18: 36,662,269 (GRCm39)	E127V	probably null	Het
Speg	C	T	1: 75,364,735 (GRCm39)	T372I	probably damaging	Het
Syce1l	A	G	8: 114,381,735 (GRCm39)	T204A	probably benign	Het
Tas2r138	T	A	6: 40,589,392 (GRCm39)	M285L	probably benign	Het
Tbc1d10a	G	C	11: 4,163,604 (GRCm39)	K285N	probably damaging	Het
Trim9	T	A	12: 70,393,228 (GRCm39)	M239L	probably benign	Het
Trp53bp1	A	G	2: 121,039,761 (GRCm39)	S1293P	probably benign	Het
Uaca	C	T	9: 60,779,498 (GRCm39)	T1295M	possibly damaging	Het
Ubald1	G	T	16: 4,693,433 (GRCm39)	Q161K	possibly damaging	Het
Ugt1a10	C	T	1: 88,143,982 (GRCm39)	R201C	probably damaging	Het
Vps45	T	G	3: 95,950,237 (GRCm39)	T231P	probably damaging	Het
Wdr17	A	T	8: 55,088,512 (GRCm39)	D1186E	probably benign	Het
Zfp534	G	A	4: 147,766,731 (GRCm39)	T8I	probably benign	Het
Zfp68	T	C	5: 138,605,517 (GRCm39)	N269D	probably benign	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
R1698:Rpap2	UTSW	5	107,751,416 (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
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'- CACTCTGACTGAATGGAAGACAG -3'
(R):5'- CAGTCTGAGCAGCCTGAAAC -3'

Sequencing Primer
(F):5'- CTGACTGAATGGAAGACAGAAGAAAC -3'
(R):5'- CCATCATGAAGACATACCTCTTTAG -3'

Posted On

2022-06-15