Mutagenetix > Incidental Mutation

Incidental Mutation 'R6403:Rprd2'

516214

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

044382-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.742) question?

Stock #

R6403 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95760341-95818863 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 95766087 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 668 (C668F)

Ref Sequence

ENSEMBL: ENSMUSP00000088297 (fasta)

Gene Model

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

AlphaFold

Q6NXI6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090791
AA Change: C668F

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000088297
Gene: ENSMUSG00000028106
AA Change: C668F

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: C584F

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars	A	G	8: 111,042,249	D227G	possibly damaging	Het
Aox1	A	G	1: 58,068,435	I623V	probably damaging	Het
Camsap2	G	A	1: 136,280,800	R317*	probably null	Het
Carmil1	G	A	13: 24,081,967	R271C	probably damaging	Het
Ces2b	T	A	8: 104,836,269	L323*	probably null	Het
Copb1	T	A	7: 114,238,451	I286F	probably damaging	Het
Dnajb11	T	A	16: 22,870,941	V285D	probably damaging	Het
Dok5	G	T	2: 170,829,900	A79S	probably damaging	Het
Enpp2	T	C	15: 54,863,764	N557S	probably damaging	Het
Gm13088	G	A	4: 143,655,773	Q118*	probably null	Het
Hexa	G	A	9: 59,557,361	R178H	probably damaging	Het
Iars	T	C	13: 49,687,495	S35P	probably damaging	Het
Il3ra	G	T	14: 14,347,137	A3S	probably damaging	Het
Iqcm	T	C	8: 75,577,996		probably null	Het
Krt9	G	T	11: 100,189,659	S420R	probably damaging	Het
Lca5l	T	C	16: 96,173,845	N293S	probably benign	Het
Mb21d2	A	G	16: 28,828,517	I235T	possibly damaging	Het
Ncbp3	A	G	11: 73,078,976	T550A	probably benign	Het
Nckipsd	G	T	9: 108,811,683	R139L	possibly damaging	Het
Nxn	A	G	11: 76,399,020	V14A	probably benign	Het
Olfr926	T	C	9: 38,877,242	L22P	probably damaging	Het
Tmem87a	A	T	2: 120,380,771	M231K	possibly damaging	Het
Trappc8	A	G	18: 20,866,071	V333A	probably benign	Het
Trit1	C	A	4: 123,039,579	T103K	possibly damaging	Het
Tspan13	A	G	12: 36,015,705	F203S	probably damaging	Het
Vmn2r114	C	T	17: 23,309,965	D388N	probably damaging	Het
Zfp617	C	T	8: 71,929,171	A55V	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
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
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
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'- AAGTGCTAGTAGGACCACGC -3'
(R):5'- GTACCCAGTCTTTTATTCCCAAAAG -3'

Sequencing Primer
(F):5'- CTAGTAGGACCACGCTGGAAGTC -3'
(R):5'- ATTCCCAAAAGCTTCAACTATTCTC -3'

Posted On

2018-05-04