Mutagenetix > Incidental Mutation

Incidental Mutation 'R5134:Rprd2'

396018

Institutional Source

Beutler Lab

Gene Symbol

Rprd2

Ensembl Gene

ENSMUSG00000028106

Gene Name

regulation of nuclear pre-mRNA domain containing 2

Synonyms

6720469I21Rik, 2810036A19Rik, 4930535B03Rik

MMRRC Submission

042722-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.742) question?

Stock #

R5134 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95760341-95818863 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 95765320 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 924 (R924G)

Ref Sequence

ENSEMBL: ENSMUSP00000088297 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090791]

AlphaFold

Q6NXI6

Predicted Effect

probably benign
Transcript: ENSMUST00000090791
AA Change: R924G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000088297
Gene: ENSMUSG00000028106
AA Change: R924G

Domain	Start	End	E-Value	Type
RPR	26	146	3.6e-29	SMART
Pfam:CREPT	210	351	9.3e-11	PFAM
low complexity region	431	465	N/A	INTRINSIC
low complexity region	576	591	N/A	INTRINSIC
low complexity region	612	633	N/A	INTRINSIC
low complexity region	670	686	N/A	INTRINSIC
low complexity region	777	793	N/A	INTRINSIC
low complexity region	1159	1179	N/A	INTRINSIC
low complexity region	1195	1208	N/A	INTRINSIC
low complexity region	1230	1238	N/A	INTRINSIC
low complexity region	1272	1295	N/A	INTRINSIC
low complexity region	1300	1323	N/A	INTRINSIC
low complexity region	1373	1409	N/A	INTRINSIC
low complexity region	1446	1467	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000200164
AA Change: R840G

Meta Mutation Damage Score

0.0607

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.5%

Validation Efficiency

96% (100/104)

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
7420426K07Rik	T	C	9: 98,903,740	S153P	probably benign	Het
Adarb1	T	A	10: 77,325,845		probably benign	Het
Adrb3	A	C	8: 27,227,770	M217R	probably damaging	Het
Ank2	A	T	3: 126,963,445	N1054K	possibly damaging	Het
Aox4	A	T	1: 58,236,676	D389V	probably benign	Het
Aph1a	G	T	3: 95,895,531	G148W	probably damaging	Het
Arsj	A	G	3: 126,438,154	D183G	probably benign	Het
Atg2b	A	G	12: 105,674,950	S76P	probably damaging	Het
Atxn7l1	C	A	12: 33,372,876	N815K	probably damaging	Het
Cd3d	A	T	9: 44,984,998	E28D	probably damaging	Het
Cir1	G	A	2: 73,284,503	R404*	probably null	Het
Cops8	A	G	1: 90,611,002	D51G	probably damaging	Het
Csgalnact1	T	C	8: 68,460,971	E194G	probably benign	Het
Cstf2t	T	A	19: 31,084,094	D343E	probably damaging	Het
Ddx23	A	T	15: 98,650,770	D352E	possibly damaging	Het
Dhx34	G	T	7: 16,218,250	A150D	possibly damaging	Het
Dnal4	A	T	15: 79,763,565	V32E	possibly damaging	Het
Dvl3	G	T	16: 20,524,607		probably benign	Het
Ehmt1	G	T	2: 24,877,497	P135T	probably damaging	Het
Enpp2	C	T	15: 54,899,330	R174H	probably damaging	Het
Eps15	G	A	4: 109,366,530		probably benign	Het
F10	T	C	8: 13,055,698	V421A	probably damaging	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fer1l6	A	T	15: 58,640,154	D1490V	probably damaging	Het
Fsd1l	A	G	4: 53,647,766	K70E	probably benign	Het
Galnt12	G	A	4: 47,113,818	A79T	probably damaging	Het
Galnt17	A	T	5: 130,964,035	M347K	probably damaging	Het
Glyatl3	A	G	17: 40,905,030	V195A	probably benign	Het
Gm10770	A	T	2: 150,179,560		probably null	Het
Gm5578	A	T	6: 112,606,085		noncoding transcript	Het
Grn	C	A	11: 102,430,554		probably benign	Het
Gsk3b	G	A	16: 38,240,520	R418H	probably damaging	Het
Hspa12b	A	G	2: 131,139,508	E221G	possibly damaging	Het
Ighv1-50	T	G	12: 115,120,033	Q22H	probably benign	Het
Ipcef1	A	G	10: 6,919,950	I150T	probably benign	Het
Ipp	T	A	4: 116,515,457	F228I	possibly damaging	Het
Itgb7	A	G	15: 102,217,407	C596R	probably damaging	Het
Kif27	T	C	13: 58,291,090	D1219G	possibly damaging	Het
Lats1	T	A	10: 7,691,811	D115E	probably benign	Het
Lpcat3	A	G	6: 124,702,530	N331S	probably benign	Het
Lrpprc	A	T	17: 84,751,256	N725K	probably benign	Het
Lss	T	G	10: 76,546,236		probably benign	Het
Mfsd6	T	C	1: 52,708,356	Y450C	possibly damaging	Het
Mmp21	A	T	7: 133,679,013	V76E	probably benign	Het
Mtmr11	A	T	3: 96,169,907	Y527F	probably damaging	Het
Mum1	T	C	10: 80,232,868	L282P	probably benign	Het
Nat10	A	T	2: 103,743,293	F327I	probably benign	Het
Nfkbiz	A	T	16: 55,818,500	M199K	probably damaging	Het
Nuak1	A	G	10: 84,374,350	Y625H	probably benign	Het
Odf1	A	G	15: 38,226,149	T98A	possibly damaging	Het
Olfr1274-ps	T	A	2: 90,400,763	M34K	probably benign	Het
Olfr1513	T	C	14: 52,349,791	N85S	probably benign	Het
Olfr350	A	T	2: 36,850,476	L143F	probably benign	Het
Oprl1	T	A	2: 181,718,610	I153N	probably damaging	Het
Osbpl8	T	A	10: 111,288,693	D705E	probably benign	Het
Otud4	G	A	8: 79,655,689	V176I	probably damaging	Het
Paics	T	C	5: 76,956,822		probably benign	Het
Pax5	A	G	4: 44,710,407	M1T	probably null	Het
Pck1	A	T	2: 173,153,489	N34I	probably benign	Het
Pde8b	T	C	13: 95,086,742	I335V	probably benign	Het
Piezo2	A	G	18: 63,074,620	V1440A	probably damaging	Het
Ptpre	T	A	7: 135,652,092	F83Y	probably damaging	Het
Rassf6	T	A	5: 90,604,366		probably null	Het
Rilp	A	T	11: 75,512,708	L325F	probably damaging	Het
Rpf1	A	G	3: 146,506,538	L349S	probably damaging	Het
Rps6kc1	T	A	1: 190,773,648	D1039V	probably damaging	Het
Rufy3	G	A	5: 88,645,567	V579I	probably benign	Het
Serpinc1	A	G	1: 160,997,570		probably null	Het
Siae	T	G	9: 37,646,520	I541S	possibly damaging	Het
St14	T	G	9: 31,095,583	D649A	probably benign	Het
Stab2	A	G	10: 86,871,810		probably null	Het
Sun3	T	C	11: 9,038,287	T12A	probably benign	Het
Tdrd6	A	G	17: 43,626,210	Y1316H	probably damaging	Het
Thbs3	CAGAAG	CAG	3: 89,223,102		probably benign	Het
Tmem161b	C	A	13: 84,294,768	T269K	possibly damaging	Het
Trav14-3	T	A	14: 53,763,244	S17T	unknown	Het
Trmu	T	A	15: 85,896,355		probably null	Het
Ttn	T	A	2: 76,707,242	T26454S	possibly damaging	Het
Ubr3	T	C	2: 70,020,446		probably benign	Het
Unc5b	A	T	10: 60,775,100	V376E	probably benign	Het
Usp3	T	C	9: 66,542,532	S166G	possibly damaging	Het
Vldlr	C	A	19: 27,238,812	C344*	probably null	Het
Vmn1r17	A	G	6: 57,360,843	V130A	probably benign	Het
Wdfy3	A	C	5: 101,944,103	Y457D	probably damaging	Het
Zbtb2	T	C	10: 4,369,267	Y253C	possibly damaging	Het
Zfp687	A	C	3: 95,010,386	F692V	probably damaging	Het
Zfp758	A	G	17: 22,375,405	K291E	probably damaging	Het
Zfp799	A	T	17: 32,820,441	C284S	probably damaging	Het
Zp1	C	A	19: 10,920,562	C5F	probably benign	Het

Other mutations in Rprd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00766:Rprd2	APN	3	95765379	missense	possibly damaging	0.95
IGL00773:Rprd2	APN	3	95765109	missense	probably damaging	1.00
IGL00792:Rprd2	APN	3	95785104	missense	probably benign	0.05
IGL01022:Rprd2	APN	3	95763754	nonsense	probably null
IGL01121:Rprd2	APN	3	95776550	missense	probably damaging	1.00
IGL01299:Rprd2	APN	3	95776547	missense	probably damaging	1.00
IGL01387:Rprd2	APN	3	95765319	missense	probably benign
IGL01414:Rprd2	APN	3	95765525	missense	probably damaging	1.00
IGL02283:Rprd2	APN	3	95765503	missense	probably damaging	0.98
IGL02336:Rprd2	APN	3	95787310	missense	probably benign	0.17
R0131:Rprd2	UTSW	3	95774361	missense	probably damaging	1.00
R0131:Rprd2	UTSW	3	95774361	missense	probably damaging	1.00
R0132:Rprd2	UTSW	3	95774361	missense	probably damaging	1.00
R0574:Rprd2	UTSW	3	95774357	missense	possibly damaging	0.58
R0718:Rprd2	UTSW	3	95766387	missense	probably benign	0.30
R0847:Rprd2	UTSW	3	95765413	missense	probably benign	0.00
R0942:Rprd2	UTSW	3	95765418	missense	probably damaging	1.00
R0943:Rprd2	UTSW	3	95784247	missense	possibly damaging	0.88
R0980:Rprd2	UTSW	3	95765904	missense	probably damaging	1.00
R1448:Rprd2	UTSW	3	95818576	missense	possibly damaging	0.57
R1542:Rprd2	UTSW	3	95765676	missense	possibly damaging	0.69
R1577:Rprd2	UTSW	3	95764735	missense	probably damaging	1.00
R1598:Rprd2	UTSW	3	95818739	unclassified	probably benign
R1640:Rprd2	UTSW	3	95763747	unclassified	probably benign
R1670:Rprd2	UTSW	3	95764803	missense	probably damaging	1.00
R2430:Rprd2	UTSW	3	95764795	nonsense	probably null
R2966:Rprd2	UTSW	3	95766433	splice site	probably null
R3612:Rprd2	UTSW	3	95764152	missense	probably damaging	0.98
R3712:Rprd2	UTSW	3	95764560	missense	probably damaging	0.97
R3890:Rprd2	UTSW	3	95765224	missense	probably damaging	1.00
R4777:Rprd2	UTSW	3	95787374	missense	probably benign	0.41
R4783:Rprd2	UTSW	3	95774333	missense	probably benign	0.03
R4832:Rprd2	UTSW	3	95774171	missense	probably damaging	1.00
R4928:Rprd2	UTSW	3	95764537	missense	probably damaging	1.00
R4976:Rprd2	UTSW	3	95766349	missense	probably damaging	1.00
R4989:Rprd2	UTSW	3	95765320	missense	probably benign	0.03
R5244:Rprd2	UTSW	3	95790182	missense	possibly damaging	0.80
R5314:Rprd2	UTSW	3	95764089	missense	possibly damaging	0.53
R5579:Rprd2	UTSW	3	95785059	missense	probably damaging	1.00
R5954:Rprd2	UTSW	3	95764863	missense	probably damaging	1.00
R6016:Rprd2	UTSW	3	95787373	missense	probably damaging	0.97
R6332:Rprd2	UTSW	3	95780441	missense	probably damaging	0.99
R6403:Rprd2	UTSW	3	95766087	missense	possibly damaging	0.77
R6415:Rprd2	UTSW	3	95774219	missense	probably benign	0.00
R7064:Rprd2	UTSW	3	95765016	missense	probably damaging	1.00
R7313:Rprd2	UTSW	3	95776710	missense	probably damaging	1.00
R7496:Rprd2	UTSW	3	95765775	missense	probably damaging	1.00
R7535:Rprd2	UTSW	3	95776587	missense	probably damaging	0.96
R8716:Rprd2	UTSW	3	95776793	missense	probably damaging	1.00
R8822:Rprd2	UTSW	3	95784301	missense	probably damaging	1.00
R8891:Rprd2	UTSW	3	95764055	missense	possibly damaging	0.85
R8922:Rprd2	UTSW	3	95780584	missense	probably damaging	0.99
R9030:Rprd2	UTSW	3	95784310	missense	probably benign	0.15
R9623:Rprd2	UTSW	3	95772193	missense	probably benign	0.30
RF034:Rprd2	UTSW	3	95766320	small deletion	probably benign
RF056:Rprd2	UTSW	3	95766319	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- GTCTGTGGCAACGTGAGATG -3'
(R):5'- ACAGGAAAAGCTCTTCCCAG -3'

Sequencing Primer
(F):5'- TGCCCAGCAGTAGACTGAGAC -3'
(R):5'- CTCCATCTGCCATGATGAATCTAGAG -3'

Posted On

2016-06-21