Mutagenetix > Incidental Mutation

Incidental Mutation 'R0980:Rprd2'

96959

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

039106-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.742) question?

Stock #

R0980 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

95760341-95818863 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 95765904 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 729 (R729L)

Ref Sequence

ENSEMBL: ENSMUSP00000088297 (fasta)

Gene Model

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

AlphaFold

Q6NXI6

Predicted Effect

probably damaging
Transcript: ENSMUST00000090791
AA Change: R729L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000088297
Gene: ENSMUSG00000028106
AA Change: R729L

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

noncoding transcript
Transcript: ENSMUST00000198740

Predicted Effect

unknown
Transcript: ENSMUST00000200164
AA Change: R645L

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.1%
20x: 89.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430078G23Rik	C	T	8: 3,389,095		probably benign	Het
Ankdd1a	T	C	9: 65,516,971	H20R	probably damaging	Het
Arfgef3	T	C	10: 18,592,118	E1778G	possibly damaging	Het
Blm	A	T	7: 80,499,958		probably null	Het
Ccr6	A	G	17: 8,256,014	E17G	probably benign	Het
Cep126	T	C	9: 8,100,719	T605A	probably damaging	Het
Cnga4	C	A	7: 105,408,006	P439T	probably damaging	Het
Col11a1	G	A	3: 114,138,765	R113H	unknown	Het
Cyp2a5	A	G	7: 26,839,006		probably null	Het
D430041D05Rik	A	G	2: 104,249,345	V1131A	probably damaging	Het
Elp3	T	C	14: 65,577,953	T197A	probably damaging	Het
Etl4	A	G	2: 20,801,567	D1200G	probably damaging	Het
Gapt	G	C	13: 110,353,739	T130R	probably damaging	Het
Gprin1	T	C	13: 54,740,401	D20G	possibly damaging	Het
Hltf	T	C	3: 20,091,501	S432P	probably benign	Het
Immt	T	C	6: 71,874,326	V54A	probably benign	Het
Jhy	T	G	9: 40,944,837	Y118S	possibly damaging	Het
Kif23	C	A	9: 61,936,764	K154N	possibly damaging	Het
Krt79	T	C	15: 101,938,007	T169A	probably damaging	Het
Llgl2	A	G	11: 115,850,001	E443G	probably damaging	Het
Ltbp4	A	T	7: 27,324,162	C786S	probably damaging	Het
Mme	A	T	3: 63,340,129	E278D	probably benign	Het
Nt5c2	G	T	19: 46,898,878	Q162K	probably benign	Het
Obscn	A	G	11: 58,998,061	V2109A	possibly damaging	Het
Olfr1066	T	C	2: 86,455,360	T304A	probably benign	Het
Olfr1085	T	A	2: 86,657,865	I198L	probably benign	Het
Olfr488	GGTAG	GG	7: 108,256,022		probably benign	Het
Osmr	G	T	15: 6,852,440	N74K	probably benign	Het
Pes1	AGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGA	11: 3,977,636		probably benign	Het
Pgd	A	T	4: 149,154,311		probably null	Het
Pld1	T	A	3: 28,124,575	S873T	probably damaging	Het
Polk	A	T	13: 96,483,764	C664S	probably benign	Het
Proca1	A	C	11: 78,204,947	H135P	probably benign	Het
Ptgs2	A	C	1: 150,104,310	D333A	probably damaging	Het
Rexo5	T	C	7: 119,823,812	V289A	probably damaging	Het
Rnf125	T	A	18: 20,979,060	C49*	probably null	Het
Sipa1l1	A	G	12: 82,342,220	S407G	possibly damaging	Het
Slc35a4	C	A	18: 36,682,781	N221K	probably damaging	Het
Sorcs1	T	C	19: 50,232,323	D563G	probably benign	Het
Stk39	G	T	2: 68,392,171	T183K	probably damaging	Het
Tc2n	T	A	12: 101,678,576	K264*	probably null	Het
Trim23	C	T	13: 104,188,127	R238W	probably damaging	Het
Trim66	C	A	7: 109,455,670	V1240L	probably damaging	Het
Ttn	T	C	2: 76,754,045	T13913A	probably damaging	Het
Ubap1	T	G	4: 41,379,832	C349G	probably damaging	Het
Vmn1r170	A	T	7: 23,606,334	I54F	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
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'- CCCAGACCAAACGGTCGATATGTAG -3'
(R):5'- AAGTTGCCGTGTGCCAATCCTC -3'

Sequencing Primer
(F):5'- TGGCGACCTTGTACTGC -3'
(R):5'- TGTGCCAATCCTCAGAGGTC -3'

Posted On

2014-01-05