Mutagenetix > Incidental Mutation

Incidental Mutation 'R0942:Rprd2'

82743

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

039081-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.742) question?

Stock #

R0942 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95760341-95818863 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 95765418 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 891 (I891N)

Ref Sequence

ENSEMBL: ENSMUSP00000088297 (fasta)

Gene Model

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

AlphaFold

Q6NXI6

Predicted Effect

probably damaging
Transcript: ENSMUST00000090791
AA Change: I891N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000088297
Gene: ENSMUSG00000028106
AA Change: I891N

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: ENSMUST00000200164
AA Change: I807N

Meta Mutation Damage Score

0.0830

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.7%
20x: 95.9%

Validation Efficiency

95% (40/42)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810064F22Rik	C	T	9: 22,208,071		noncoding transcript	Het
Aass	C	T	6: 23,075,152		probably benign	Het
Abcb5	C	A	12: 118,906,198	V742F	possibly damaging	Het
Abcd4	A	G	12: 84,612,828	I165T	probably damaging	Het
Acer3	T	C	7: 98,257,742	Y119C	probably damaging	Het
Ap3d1	A	T	10: 80,732,955		probably benign	Het
Ascc2	T	A	11: 4,668,380	I325N	probably benign	Het
Atad2b	T	A	12: 5,024,591	I1050N	probably damaging	Het
Brms1l	T	C	12: 55,865,957	V245A	probably benign	Het
Cadps2	T	A	6: 23,263,562	D1270V	probably damaging	Het
Cdh23	A	T	10: 60,410,860	M936K	possibly damaging	Het
Cenpj	A	G	14: 56,555,209		probably benign	Het
Dner	T	C	1: 84,585,309		probably benign	Het
Dzip1	T	A	14: 118,887,197	R555*	probably null	Het
Enpp4	A	T	17: 44,101,881	L254*	probably null	Het
Erich3	T	A	3: 154,739,151	D518E	probably benign	Het
Gli2	G	A	1: 118,837,506	R972C	probably damaging	Het
Gm5861	A	T	5: 11,186,521	T174S	probably benign	Het
Gpc1	G	A	1: 92,857,309	R358H	possibly damaging	Het
Grb7	T	C	11: 98,453,808	Y346H	probably damaging	Het
Heg1	T	C	16: 33,760,803	L1192P	probably damaging	Het
Il16	T	A	7: 83,663,141	Q445L	probably benign	Het
Il17d	C	T	14: 57,542,320		probably benign	Het
Kmt2c	A	T	5: 25,315,303	N1936K	probably benign	Het
Lrrc45	T	C	11: 120,718,238		probably benign	Het
Mib2	C	T	4: 155,659,460	G42S	probably damaging	Het
Mphosph9	T	A	5: 124,262,037	R934*	probably null	Het
Nek11	T	A	9: 105,295,371		probably null	Het
Nf1	T	C	11: 79,438,711	S634P	probably benign	Het
Olfr293	T	A	7: 86,664,106	M148K	probably damaging	Het
Pkhd1l1	T	C	15: 44,532,959	V1959A	probably benign	Het
Pkp2	G	T	16: 16,226,030	G216V	probably benign	Het
Ppp1r16a	T	C	15: 76,694,011	L394P	probably damaging	Het
Ptprc	G	A	1: 138,068,401	Q1070*	probably null	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Taf15	T	C	11: 83,499,106	I40T	probably damaging	Het
Tshz1	A	G	18: 84,013,053	Y1077H	probably damaging	Het
Ttn	T	C	2: 76,863,489	E223G	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
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'- AGATGCCCAGCAGTAGACTGAGAC -3'
(R):5'- AAGCAGCCTTCTGGTGGAGTTGAG -3'

Sequencing Primer
(F):5'- ACAAGCCACTGTGGTTGG -3'
(R):5'- ATCACTGATGGACTCTTCACAGG -3'

Posted On

2013-11-08