Mutagenetix > Incidental Mutation

Incidental Mutation 'R9030:Rprd2'

686981

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

068859-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.742) question?

Stock #

R9030 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95760341-95818863 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95784310 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 218 (Y218H)

Ref Sequence

ENSEMBL: ENSMUSP00000088297 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090791] [ENSMUST00000197449]

AlphaFold

Q6NXI6

Predicted Effect

probably benign
Transcript: ENSMUST00000090791
AA Change: Y218H

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000088297
Gene: ENSMUSG00000028106
AA Change: Y218H

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

probably benign
Transcript: ENSMUST00000197449
AA Change: Y200H

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000143240
Gene: ENSMUSG00000028106
AA Change: Y200H

Domain	Start	End	E-Value	Type
RPR	26	146	3.2e-32	SMART
coiled coil region	288	313	N/A	INTRINSIC
low complexity region	314	325	N/A	INTRINSIC
low complexity region	413	447	N/A	INTRINSIC

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008L16Rik	T	C	12: 55,379,407	F514S	probably damaging	Het
Actr5	A	C	2: 158,632,401	I375L	probably benign	Het
Adgrl2	G	T	3: 148,839,125	T778K	possibly damaging	Het
Cdc73	A	T	1: 143,609,496	L478H	probably damaging	Het
Cdh7	C	A	1: 110,100,113	H529Q	probably benign	Het
Cep55	T	C	19: 38,071,144		probably null	Het
Chd9	G	A	8: 90,956,570	R546Q	unknown	Het
Ddit4	A	T	10: 59,950,693	L178Q	probably damaging	Het
Dgke	A	T	11: 89,050,411	N315K	possibly damaging	Het
Dsg1a	A	G	18: 20,340,492	D874G	probably damaging	Het
Dsp	T	A	13: 38,168,697	Y184N	probably damaging	Het
Dynlt1c	A	G	17: 6,603,517	I20V	probably benign	Het
Ephx4	A	G	5: 107,429,683	H291R	possibly damaging	Het
Epx	A	T	11: 87,872,644	M250K	probably benign	Het
Fan1	T	C	7: 64,373,013	Y164C	probably benign	Het
Fer1l6	A	T	15: 58,630,745	Y1365F	probably damaging	Het
Fndc8	A	G	11: 82,898,696	T227A	probably benign	Het
Gbp7	T	C	3: 142,538,037	I115T	probably damaging	Het
Gm5145	A	G	17: 20,571,008	E216G	probably benign	Het
Gm94	A	T	18: 43,781,261	F77L	possibly damaging	Het
Grik3	C	A	4: 125,632,392	H139Q	probably benign	Het
Gucy2e	T	C	11: 69,225,001	T852A	probably damaging	Het
Hif1a	T	C	12: 73,936,236	S274P	probably damaging	Het
Hmcn1	T	A	1: 150,817,119	I268L	probably benign	Het
Klk15	C	T	7: 43,938,366	H73Y	possibly damaging	Het
Lin52	T	A	12: 84,545,907	S87T		Het
Lrrc74b	A	G	16: 17,549,776		probably null	Het
Mapk10	T	C	5: 102,996,633	K136R	probably damaging	Het
Nlrp2	A	T	7: 5,322,458	N738K	probably null	Het
Nlrp5	A	T	7: 23,430,148	Q880L	possibly damaging	Het
Nov	A	T	15: 54,752,291	Y284F	probably damaging	Het
Olfr1167	A	T	2: 88,149,374	I215N	possibly damaging	Het
Olfr1381	T	A	11: 49,551,981	V78E	probably damaging	Het
Olfr811	G	T	10: 129,802,057	P156Q	probably damaging	Het
P4htm	G	A	9: 108,597,428	P46L	probably benign	Het
Pcsk4	A	T	10: 80,329,024	H69Q	probably damaging	Het
Pdzd2	A	G	15: 12,374,299	S1917P	probably benign	Het
Pnpla5	A	G	15: 84,113,886	V385A	possibly damaging	Het
Rims2	C	T	15: 39,476,477	R856C	probably damaging	Het
Sat2	T	A	11: 69,622,243		probably benign	Het
Sf1	C	T	19: 6,376,306	R186C		Het
Snrnp200	A	G	2: 127,211,546		probably benign	Het
Sqor	A	T	2: 122,787,594	D124V	probably benign	Het
Ssh2	A	G	11: 77,421,236	H191R	possibly damaging	Het
Stac	C	A	9: 111,690,252		probably benign	Het
Svs4	T	C	2: 164,277,138	M93V	unknown	Het
Tbc1d32	A	T	10: 56,161,145	S668T	possibly damaging	Het
Tex10	A	G	4: 48,452,056	F690S	probably damaging	Het
Tex30	A	G	1: 44,091,196	M88T		Het
Tgfbrap1	T	C	1: 43,056,677	T534A	probably benign	Het
Tmco1	C	T	1: 167,308,563		probably benign	Het
Tnrc18	T	C	5: 142,726,063	E2647G	probably damaging	Het
Trim43a	GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT	GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT	9: 88,582,989		probably benign	Het
Tubb3	A	T	8: 123,418,957	R62W	probably damaging	Het
Vmn2r108	A	G	17: 20,470,050	S507P	probably benign	Het
Vmn2r116	A	G	17: 23,384,890	K30E	possibly damaging	Het
Vmn2r14	G	A	5: 109,220,188	H313Y	probably damaging	Het
Wdr37	C	T	13: 8,835,388	V340M	probably damaging	Het
Zfp799	A	G	17: 32,820,591	F234L	possibly damaging	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
R5134: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
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'- GGTTCTGAAAATTGTTTCACCCTACC -3'
(R):5'- AGCTAAGAGTATGGTTTGACATGAG -3'

Sequencing Primer
(F):5'- CTGTGGGTGATTCATTCCAGAAACAC -3'
(R):5'- GGGGGGAGAATATGTAATCC -3'

Posted On

2021-11-19