Mutagenetix > Incidental Mutation

Incidental Mutation 'R5244:Rprd2'

401036

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

042815-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.742) question?

Stock #

R5244 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95760341-95818863 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 95790182 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 85 (I85L)

Ref Sequence

ENSEMBL: ENSMUSP00000143240 (fasta)

Gene Model

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

AlphaFold

Q6NXI6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090791
AA Change: I85L

PolyPhen 2 Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000088297
Gene: ENSMUSG00000028106
AA Change: I85L

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

possibly damaging
Transcript: ENSMUST00000197449
AA Change: I85L

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000143240
Gene: ENSMUSG00000028106
AA Change: I85L

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

unknown
Transcript: ENSMUST00000200164
AA Change: I45L

Meta Mutation Damage Score

0.4268

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

97% (63/65)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	G	T	9: 53,411,798	G45W	probably damaging	Het
Abca13	C	T	11: 9,275,081	T520I	probably benign	Het
Adamtsl3	C	T	7: 82,598,069	P485L	probably benign	Het
Bbof1	A	C	12: 84,430,073	E492A	possibly damaging	Het
Capn11	T	C	17: 45,633,892	E483G	probably damaging	Het
Cbs	C	T	17: 31,617,160	G438D	probably damaging	Het
Chil6	A	G	3: 106,389,974	Y284H	probably damaging	Het
Cops4	C	A	5: 100,533,375	Q131K	probably benign	Het
Cul4a	T	C	8: 13,146,566	I740T	probably damaging	Het
Cyfip1	C	T	7: 55,925,199	T1066I	probably damaging	Het
Dnah7b	T	C	1: 46,233,858	L2382P	probably damaging	Het
Ehd3	A	T	17: 73,830,000	H388L	probably benign	Het
Fam13a	G	T	6: 58,953,474	Y484*	probably null	Het
Gm5117	A	G	8: 31,738,277		noncoding transcript	Het
Gulp1	G	A	1: 44,788,453	D260N	probably damaging	Het
Hhipl1	T	A	12: 108,312,134	N240K	probably damaging	Het
Hydin	A	T	8: 110,532,819	E2474D	possibly damaging	Het
Ifi207	C	T	1: 173,729,937	V412I	probably benign	Het
Ighv9-4	T	C	12: 114,300,251	I21V	probably benign	Het
Kcnh1	A	T	1: 192,224,876	T79S	probably benign	Het
Kpna6	A	G	4: 129,655,428		probably null	Het
Lnpk	C	T	2: 74,531,888	G262D	probably damaging	Het
Lsm7	T	C	10: 80,853,073	E66G	probably benign	Het
Mbd3l1	T	A	9: 18,484,637	C19*	probably null	Het
Mfsd6l	T	A	11: 68,557,175	L284Q	possibly damaging	Het
Naip5	C	T	13: 100,245,662	V180I	probably benign	Het
Olfr1037	C	G	2: 86,084,956	A274P	probably damaging	Het
Olfr1285	T	A	2: 111,408,554		noncoding transcript	Het
Olfr213	T	A	6: 116,541,226	Y258N	probably damaging	Het
Olfr44	T	G	9: 39,484,512	H247P	probably damaging	Het
Olfr531	A	T	7: 140,400,138	C303S	probably benign	Het
Olfr694	T	A	7: 106,689,189	I181F	probably benign	Het
Olfr837	A	T	9: 19,137,851	N286I	probably damaging	Het
Pck1	T	A	2: 173,154,863	I190N	possibly damaging	Het
Pfkfb3	T	A	2: 11,484,849	I209F	probably damaging	Het
Phc1	A	G	6: 122,321,979	S677P	probably damaging	Het
Pirb	G	A	7: 3,716,063	A609V	probably benign	Het
Plag1	A	T	4: 3,903,887	S435T	probably benign	Het
Plscr2	C	G	9: 92,291,049	L215V	probably benign	Het
Pnmal1	A	G	7: 16,961,323	S368G	probably damaging	Het
Polr2b	A	G	5: 77,343,000		probably benign	Het
Pthlh	T	C	6: 147,257,153	Y103C	probably damaging	Het
Ptprq	A	G	10: 107,586,695	V1612A	possibly damaging	Het
Slc27a2	T	C	2: 126,578,855	V422A	probably benign	Het
Slc29a1	T	C	17: 45,588,413		probably benign	Het
Slc36a4	A	T	9: 15,734,278	I334F	probably benign	Het
Slc4a10	T	A	2: 62,288,725	S761R	probably damaging	Het
Spa17	T	A	9: 37,611,989	M1L	probably damaging	Het
Srsf11	C	T	3: 158,023,344		probably benign	Het
Stk19	A	G	17: 34,832,070	L72P	probably damaging	Het
Trhde	T	C	10: 114,801,081	M74V	probably benign	Het
Trim37	C	T	11: 87,218,257	H937Y	probably benign	Het
Ttc7b	A	G	12: 100,348,010	L46P	probably damaging	Het
Ttll4	T	C	1: 74,696,448	V1005A	probably benign	Het
Ugt2b36	T	C	5: 87,091,906	T207A	probably damaging	Het
Unc13c	C	T	9: 73,525,951		probably null	Het
Vmn1r221	T	C	13: 23,217,638		noncoding transcript	Het
Vmn2r101	T	C	17: 19,611,526	S595P	probably damaging	Het
Wnt10a	T	C	1: 74,803,295	L310P	probably damaging	Het
Yif1b	G	A	7: 29,244,441	A115T	probably damaging	Het
Zfp219	C	A	14: 52,008,542	R331L	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
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'- AAAAGTTTCACCTTCCCCGC -3'
(R):5'- TCTACTTGGAAGAGTACCTTGAACAC -3'

Sequencing Primer
(F):5'- GCTCCCCAGATGCTGAAATTAAAAAC -3'
(R):5'- TGCTCAGGTTGGAAGCAC -3'

Posted On

2016-07-06