Mutagenetix > Incidental Mutation

Incidental Mutation 'R1598:Rprd2'

175933

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

039635-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.742) question?

Stock #

R1598 (G1)

Quality Score

131

Status

Not validated

Chromosome

Chromosomal Location

95760341-95818863 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to G at 95818739 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q6NXI6

Predicted Effect

unknown
Transcript: ENSMUST00000090791
AA Change: G5R

SMART Domains

Protein: ENSMUSP00000088297
Gene: ENSMUSG00000028106
AA Change: G5R

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: ENSMUST00000197449
AA Change: G5R

SMART Domains

Protein: ENSMUSP00000143240
Gene: ENSMUSG00000028106
AA Change: G5R

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

noncoding transcript
Transcript: ENSMUST00000198741

Predicted Effect

probably benign
Transcript: ENSMUST00000200164

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.7%
20x: 90.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730455P16Rik	G	A	11: 80,364,012	Q328*	probably null	Het
Adamts1	G	A	16: 85,798,511	Q260*	probably null	Het
Add2	A	T	6: 86,098,646	Y259F	probably benign	Het
Bora	T	C	14: 99,068,404	V403A	probably benign	Het
Ccdc144b	C	T	3: 36,018,997	A379T	probably damaging	Het
Ccnl1	G	A	3: 65,946,770	R477W	probably damaging	Het
Cdc25a	CG	CGG	9: 109,879,893		probably null	Het
Cdr2l	T	C	11: 115,393,377	S180P	probably damaging	Het
Cep290	T	A	10: 100,549,329	L1889Q	probably damaging	Het
Ces4a	T	C	8: 105,142,821	V208A	probably damaging	Het
Col2a1	T	C	15: 97,979,250	D1049G	probably damaging	Het
Coro1a	A	T	7: 126,701,692	N154K	possibly damaging	Het
Cubn	T	A	2: 13,469,789	R401S	probably benign	Het
Cul7	A	T	17: 46,663,091	Q1434L	probably benign	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dars	G	T	1: 128,373,972	D308E	probably benign	Het
Dna2	T	A	10: 62,961,657	F604I	probably damaging	Het
Dnah1	T	G	14: 31,301,262	I1033L	probably benign	Het
Dusp27	G	A	1: 166,110,259	T77I	probably benign	Het
Erlin1	T	C	19: 44,047,673	E206G	probably damaging	Het
Esrp2	T	A	8: 106,133,273	E345D	probably damaging	Het
Foxa1	T	C	12: 57,542,687	D249G	possibly damaging	Het
Ghsr	C	A	3: 27,372,277	L161M	probably benign	Het
Gm436	T	A	4: 144,670,424	K246I	possibly damaging	Het
Gpr155	C	A	2: 73,370,090	V358F	probably damaging	Het
H2-Eb2	A	T	17: 34,334,374	N178I	probably damaging	Het
Hydin	T	A	8: 110,410,674	I703N	possibly damaging	Het
Kctd15	A	G	7: 34,641,992	V170A	probably damaging	Het
Klhl31	A	T	9: 77,651,016	Y338F	possibly damaging	Het
Krt5	C	T	15: 101,712,441	A124T	probably benign	Het
Krt72	T	A	15: 101,780,253	I331F	probably benign	Het
Lrp1b	T	A	2: 41,511,478	D388V	probably damaging	Het
Ly9	A	G	1: 171,596,507	V382A	probably benign	Het
Mon2	T	C	10: 123,016,396	Y1024C	probably damaging	Het
Myh14	A	G	7: 44,638,394	F572L	probably damaging	Het
Myh3	A	T	11: 67,093,171	D987V	probably damaging	Het
Ndn	C	T	7: 62,348,508	P34L	probably benign	Het
Nphp4	A	G	4: 152,562,090	T1360A	probably benign	Het
Olfr1034	C	T	2: 86,047,313	T277I	probably damaging	Het
Olfr1151	T	A	2: 87,857,751	I192K	probably benign	Het
Olfr1299	G	T	2: 111,664,754	S176I	probably damaging	Het
Oog4	A	G	4: 143,438,001	L320P	probably damaging	Het
Pcnx2	T	C	8: 125,772,086	N1558S	probably benign	Het
Pde10a	A	G	17: 8,929,144	E147G	probably damaging	Het
Pgbd5	T	A	8: 124,374,287	H410L	probably benign	Het
Plce1	A	C	19: 38,720,996	D1098A	probably damaging	Het
Psg25	G	A	7: 18,532,003	Q16*	probably null	Het
Psmd9	T	A	5: 123,241,917	V133E	probably damaging	Het
Rabgap1	C	T	2: 37,561,899	S937F	probably damaging	Het
Rbck1	A	G	2: 152,323,170		probably null	Het
Rrs1	A	G	1: 9,545,912	N130S	probably benign	Het
Scmh1	A	T	4: 120,515,130	I377F	possibly damaging	Het
Skor1	G	T	9: 63,146,004	R228S	probably damaging	Het
Slc2a4	A	G	11: 69,945,018	V335A	probably benign	Het
Slc4a9	G	A	18: 36,528,371	W62*	probably null	Het
Taar9	G	T	10: 24,109,407	A43D	possibly damaging	Het
Tns4	T	C	11: 99,070,417	Y645C	probably damaging	Het
Tpcn2	G	T	7: 145,277,220	Y129*	probably null	Het
Trpm3	T	C	19: 22,733,024	S278P	possibly damaging	Het
Ttc3	T	C	16: 94,422,297	W615R	probably damaging	Het
Ttll5	T	C	12: 85,863,598	V207A	probably damaging	Het
Ubr7	G	T	12: 102,769,894	M358I	probably damaging	Het
Urb1	C	A	16: 90,777,440	V918F	possibly damaging	Het
Vmn2r51	G	A	7: 10,105,505	T52I	probably benign	Het
Vmn2r95	A	T	17: 18,452,313	I771F	probably benign	Het
Wfdc16	T	C	2: 164,635,430	S107G	probably benign	Het
Zmym2	A	G	14: 56,902,769	T22A	possibly damaging	Het
Zmym2	G	A	14: 56,914,067	G470R	probably 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
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
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'- CGCCCGATCTTTAATGTGAACCCC -3'
(R):5'- GCGTAGAGGCTAAAAGCCTTAGTTGTC -3'

Sequencing Primer
(F):5'- GAGCCACTTCATCCAATGGTAG -3'
(R):5'- GAGCCATACTGACAGTCCTC -3'

Posted On

2014-04-24