Mutagenetix > Incidental Mutation

Incidental Mutation 'R0574:Rprd2'

46567

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

038764-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.742) question?

Stock #

R0574 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95760341-95818863 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95774357 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 408 (E408G)

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: E408G

PolyPhen 2 Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000088297
Gene: ENSMUSG00000028106
AA Change: E408G

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: E390G

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000143240
Gene: ENSMUSG00000028106
AA Change: E390G

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

unknown
Transcript: ENSMUST00000200164
AA Change: E324G

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200428

Meta Mutation Damage Score

0.0744

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.4%

Validation Efficiency

100% (34/34)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700099C18Rik	T	C	17: 94,761,491		noncoding transcript	Het
Abca14	A	G	7: 120,224,497	I416V	probably damaging	Het
Actrt3	T	C	3: 30,599,680	E57G	probably benign	Het
Adamts5	A	G	16: 85,899,484	S262P	probably damaging	Het
Aldh1a2	T	C	9: 71,281,708		probably null	Het
Arhgap29	A	G	3: 122,007,625	I670V	probably benign	Het
Bptf	T	C	11: 107,076,527	D1009G	probably damaging	Het
Ddr2	G	T	1: 169,981,963		probably benign	Het
Ift140	T	A	17: 25,051,760		probably null	Het
Itga1	A	C	13: 114,966,561	S1111R	probably damaging	Het
Klk1b27	T	A	7: 44,056,101	L199Q	probably damaging	Het
Lhx3	T	C	2: 26,201,311	S329G	probably benign	Het
Man2b1	T	G	8: 85,096,776	M913R	probably benign	Het
Mmp15	G	A	8: 95,365,401	A80T	possibly damaging	Het
Mpo	A	T	11: 87,796,076	Y177F	probably damaging	Het
Mynn	T	C	3: 30,616,739	S587P	probably benign	Het
Nfkbib	C	T	7: 28,761,788	V145I	probably benign	Het
Olfr421-ps1	T	C	1: 174,151,566	F17L	probably benign	Het
Olfr727	A	T	14: 50,126,682	Y35F	probably damaging	Het
Olfr98	G	T	17: 37,262,881	S261Y	probably damaging	Het
Pole2	G	A	12: 69,211,457		probably benign	Het
Ppargc1b	C	T	18: 61,302,739	G906D	probably benign	Het
Prl8a2	T	A	13: 27,348,900	C32S	probably damaging	Het
Rhno1	A	T	6: 128,358,150		probably null	Het
Ryr2	T	A	13: 11,731,669	H1999L	probably benign	Het
Shprh	T	C	10: 11,163,077		probably benign	Het
Snx3	T	A	10: 42,502,387	N19K	probably benign	Het
Stx8	C	T	11: 67,973,252	T46M	probably damaging	Het
Tbc1d17	A	G	7: 44,843,123		probably benign	Het
Ush1c	A	G	7: 46,196,804	S855P	possibly damaging	Het
Usp54	A	G	14: 20,556,254	V1338A	probably benign	Het
Vmn1r214	A	G	13: 23,034,493	I52M	probably benign	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
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
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'- CAGCATCATCAGTGGCTCACTTACC -3'
(R):5'- GCATCTCCCTCTTGTTGGGGAAAG -3'

Sequencing Primer
(F):5'- CTAAGGATGGAACTGATCTTTGCC -3'
(R):5'- tgcatatcagagggcatcag -3'

Posted On

2013-06-11