Mutagenetix > Incidental Mutation

Incidental Mutation 'R0943:Rprd2'

81955

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

039082-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.772) question?

Stock #

R0943 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95760341-95818863 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 95784247 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 239 (V239I)

Ref Sequence

ENSEMBL: ENSMUSP00000088297 (fasta)

Gene Model

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

AlphaFold

Q6NXI6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090791
AA Change: V239I

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000088297
Gene: ENSMUSG00000028106
AA Change: V239I

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: V221I

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143240
Gene: ENSMUSG00000028106
AA Change: V221I

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

noncoding transcript
Transcript: ENSMUST00000199308

Predicted Effect

unknown
Transcript: ENSMUST00000200164
AA Change: V155I

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.3%
20x: 94.5%

Validation Efficiency

97% (36/37)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833423E24Rik	C	T	2: 85,488,765	D398N	probably damaging	Het
A230050P20Rik	A	T	9: 20,872,962	H160L	possibly damaging	Het
Agtpbp1	T	C	13: 59,500,602	N468S	probably benign	Het
Card6	A	G	15: 5,100,286	S543P	probably damaging	Het
Celsr1	T	G	15: 85,903,288	T2750P	probably damaging	Het
Csmd3	A	G	15: 47,675,739	M2341T	probably damaging	Het
Dym	A	G	18: 75,286,769	*670W	probably null	Het
Ehbp1	T	C	11: 22,095,883	D597G	probably benign	Het
Emx1	G	A	6: 85,203,919	W206*	probably null	Het
Esr1	A	G	10: 4,746,781	K210R	probably damaging	Het
Extl1	TGCGTTGCACCGATACCGGG	TG	4: 134,357,677		probably benign	Het
Fam72a	T	C	1: 131,528,779	S27P	possibly damaging	Het
Fanca	A	T	8: 123,274,186	C1152S	probably damaging	Het
Fras1	G	A	5: 96,726,543	V2276I	probably benign	Het
Gm9008	T	C	6: 76,496,415	H406R	probably benign	Het
Hoxb13	A	G	11: 96,195,973	E202G	probably benign	Het
Lcmt1	T	G	7: 123,401,439		probably null	Het
Mettl7a1	T	C	15: 100,304,958	Y20H	probably benign	Het
Nars2	C	T	7: 96,955,931		probably benign	Het
Neil3	ATATTTATTTATTTATTTATTTATTTATTTATT	ATATTTATTTATTTATTTATTTATTTATTTATTTATT	8: 53,609,369		probably benign	Het
Nup153	T	C	13: 46,696,772		probably benign	Het
Olfr1257	T	C	2: 89,880,961	V45A	probably benign	Het
Olfr1466	C	A	19: 13,341,793	H12N	probably benign	Het
Prkar2a	T	C	9: 108,733,276		probably benign	Het
Ptprc	T	C	1: 138,111,164	T209A	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Sgo2b	A	G	8: 63,931,335	F209S	possibly damaging	Het
Spry2	T	C	14: 105,893,587	Y55C	probably damaging	Het
Tbc1d32	A	T	10: 56,161,147	V667E	probably benign	Het
Tbrg4	A	G	11: 6,619,008	F388L	probably damaging	Het
Tshz1	T	C	18: 84,015,231	T351A	probably benign	Het
Usp48	A	G	4: 137,644,470	N969S	possibly damaging	Het
Vmn2r108	A	T	17: 20,471,135	C375*	probably null	Het
Vps45	T	A	3: 96,057,024	I62F	probably benign	Het
Xab2	A	G	8: 3,613,667	F388L	probably benign	Het
Zfp735	A	G	11: 73,712,083	T618A	probably benign	Het
Zswim2	T	A	2: 83,917,998	R279S	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
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
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'- ACACTGTGGGTGATTCATTCCAGAAAC -3'
(R):5'- GTTGTCAGCAGACCTCTACACATACAC -3'

Sequencing Primer
(F):5'- GGTGATTCATTCCAGAAACACATCG -3'
(R):5'- cactcaggaggcaggaac -3'

Posted On

2013-11-08