Mutagenetix > Incidental Mutation

Incidental Mutation 'R4783:Rprd2'

366706

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

042416-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.742) question?

Stock #

R4783 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95760341-95818863 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95774333 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 332 (V332A)

Gene Model

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

AlphaFold

Q6NXI6

Predicted Effect

probably benign
Transcript: ENSMUST00000090791
AA Change: V416A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000088297
Gene: ENSMUSG00000028106
AA Change: V416A

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: V398A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000143240
Gene: ENSMUSG00000028106
AA Change: V398A

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: ENSMUST00000198740

Predicted Effect

probably benign
Transcript: ENSMUST00000200164
AA Change: V332A

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200428

Meta Mutation Damage Score

0.0591

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

100% (99/99)

Allele List at MGI

Other mutations in this stock

Total: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082J24Rik	G	A	5: 30,105,200	R54*	probably null	Het
Acsl6	A	T	11: 54,336,993	M350L	probably damaging	Het
Adgrv1	T	C	13: 81,095,445	T6279A	probably damaging	Het
Ago3	A	T	4: 126,368,503	M418K	probably benign	Het
Ascc2	G	A	11: 4,646,653	R58H	probably benign	Het
Brinp3	A	G	1: 146,727,640		probably benign	Het
Carmil3	T	C	14: 55,501,321		probably null	Het
Ccdc47	T	A	11: 106,203,604	H7L	probably benign	Het
Ccndbp1	A	T	2: 121,008,522	T5S	probably benign	Het
Cdr2	A	T	7: 120,958,421	F294I	probably benign	Het
Chd8	C	A	14: 52,205,368	C575F	probably damaging	Het
Ctsll3	G	A	13: 60,800,395	T156I	probably damaging	Het
Dgcr8	G	A	16: 18,258,310	R4*	probably null	Het
Dnah1	T	A	14: 31,263,479	K3818N	probably damaging	Het
Dok2	C	T	14: 70,777,874	P347L	probably benign	Het
Elf1	T	A	14: 79,580,743	N567K	probably benign	Het
Emsy	T	C	7: 98,646,479	N72S	possibly damaging	Het
Fam155a	T	C	8: 9,208,026	Y374C	probably damaging	Het
Fam160a1	G	T	3: 85,688,570	T115K	probably damaging	Het
Fam76a	A	T	4: 132,902,117		probably null	Het
Fam76a	A	G	4: 132,916,190	Y78H	probably damaging	Het
Fbn1	A	T	2: 125,324,919	C2026S	probably damaging	Het
Fbxo4	T	C	15: 3,969,041	T312A	probably benign	Het
Flnb	A	T	14: 7,905,701	E1150D	probably benign	Het
Galt	T	C	4: 41,758,189	V318A	probably damaging	Het
Git1	T	G	11: 77,499,837	L133R	probably damaging	Het
Gm11168	G	A	9: 3,006,915	M213I	probably benign	Het
Gm7233	A	G	14: 43,179,966	E25G	probably benign	Het
Golga2	T	A	2: 32,297,156	N89K	probably damaging	Het
Grin1	T	A	2: 25,292,381	H956L	possibly damaging	Het
Hlcs	C	T	16: 94,268,539	V164I	possibly damaging	Het
Hmgcr	G	A	13: 96,666,193	T66M	probably damaging	Het
Ifi206	A	T	1: 173,480,866	H521Q	probably benign	Het
Lgals3bp	G	A	11: 118,393,514	T413I	probably damaging	Het
Lrrc7	A	G	3: 158,127,213		probably null	Het
Mapk11	T	C	15: 89,149,488	Y9C	probably damaging	Het
Mccc1	C	A	3: 35,975,873	M429I	probably damaging	Het
Metrnl	A	G	11: 121,707,924	E40G	probably benign	Het
Mrgpra1	A	G	7: 47,335,470	S154P	probably damaging	Het
Myh13	A	T	11: 67,341,270	I459F	probably damaging	Het
Nedd4l	C	A	18: 65,172,927	D424E	probably damaging	Het
Nid1	C	T	13: 13,499,741	R902W	probably damaging	Het
Nphp4	G	A	4: 152,554,546	R878K	probably benign	Het
Numa1	A	G	7: 102,013,566	T1997A	probably damaging	Het
Nutm1	G	A	2: 112,248,936	A878V	probably benign	Het
Nxf1	G	A	19: 8,766,798	A339T	probably benign	Het
Oas1b	C	A	5: 120,814,513	Q90K	probably benign	Het
Olfr1175-ps	A	G	2: 88,323,156	I183T	probably damaging	Het
Olfr1305	A	T	2: 111,873,050	D268E	possibly damaging	Het
Olfr186	G	T	16: 59,027,897	D3E	probably benign	Het
Olfr199	G	T	16: 59,215,859	F251L	probably damaging	Het
Olfr398	A	G	11: 73,984,008	F200S	probably damaging	Het
Olfr721-ps1	A	C	14: 14,407,729	Y167S	possibly damaging	Het
Olfr998	A	G	2: 85,590,938	T133A	probably benign	Het
Optn	T	C	2: 5,054,627	M27V	probably benign	Het
Oxgr1	T	C	14: 120,022,364	I144V	probably benign	Het
Pax5	T	A	4: 44,570,086	T127S	probably damaging	Het
Pcsk2	T	C	2: 143,687,679		probably null	Het
Pdxk	A	G	10: 78,464,792	V19A	possibly damaging	Het
Pik3c2a	A	T	7: 116,417,825	S232R	probably damaging	Het
Ppip5k1	T	C	2: 121,340,848	D620G	possibly damaging	Het
Ppp4r4	T	A	12: 103,590,858		probably null	Het
Pqlc2	G	T	4: 139,300,001	H343Q	probably benign	Het
Psmd1	A	G	1: 86,078,712	N267D	probably damaging	Het
Pudp	A	G	18: 50,568,065	V199A	probably damaging	Het
Rasal3	T	A	17: 32,396,781	D361V	probably damaging	Het
Rbm12	T	C	2: 156,096,564	D596G	possibly damaging	Het
Rbm6	T	C	9: 107,852,903	D182G	probably damaging	Het
Rif1	T	C	2: 52,112,747	V2071A	probably damaging	Het
Rilp	C	T	11: 75,510,641	A110V	possibly damaging	Het
Sbpl	T	A	17: 23,953,330	D205V	unknown	Het
Scn9a	T	C	2: 66,540,623	I538V	probably benign	Het
Serpina1d	T	C	12: 103,767,824	S74G	possibly damaging	Het
Serpina3n	T	C	12: 104,409,110	I147T	possibly damaging	Het
Serpinb8	A	G	1: 107,604,742	N188S	probably benign	Het
Sipa1l3	A	G	7: 29,377,641	V902A	probably damaging	Het
Slc25a47	T	A	12: 108,855,334	L123Q	probably damaging	Het
Slc30a2	A	T	4: 134,344,006		probably null	Het
Snx13	T	A	12: 35,098,286	D271E	probably damaging	Het
Tbc1d9b	A	G	11: 50,171,298	N1211S	probably benign	Het
Tdrd3	T	A	14: 87,472,101	I67N	probably damaging	Het
Thbs1	T	C	2: 118,114,792	V282A	probably benign	Het
Tmc8	A	G	11: 117,791,605		probably null	Het
Trim11	T	A	11: 58,988,924	F284Y	probably null	Het
Ttn	G	T	2: 76,721,797	Y29419*	probably null	Het
Ttn	A	G	2: 76,769,603	Y19076H	probably damaging	Het
Ubr4	T	C	4: 139,421,733	S448P	possibly damaging	Het
Ugt2b34	T	C	5: 86,891,473	E443G	probably damaging	Het
Usp29	A	G	7: 6,961,391	T78A	probably damaging	Het
Vmn1r227	A	G	17: 20,735,134		noncoding transcript	Het
Vmn1r85	A	T	7: 13,084,861	W119R	probably damaging	Het
Vmn2r12	A	T	5: 109,086,513	V611E	probably damaging	Het
Vmn2r97	A	T	17: 18,929,288	M313L	probably benign	Het
Zap70	T	C	1: 36,779,173	Y314H	probably damaging	Het
Zfp667	T	A	7: 6,305,685	F451I	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
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'- GCCAGATCCACATTTGCCAG -3'
(R):5'- GCAGTTAATTGGTGGGATGTCATAAAC -3'

Sequencing Primer
(F):5'- AGATCCACATTTGCCAGGTTTG -3'
(R):5'- CATGTGTATGCATATCAGAGGGCATC -3'

Posted On

2015-12-29