Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02283:Rprd2'

289921

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rprd2

Ensembl Gene

ENSMUSG00000028106

Gene Name

regulation of nuclear pre-mRNA domain containing 2

Synonyms

6720469I21Rik, 2810036A19Rik, 4930535B03Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.771) question?

Stock #

IGL02283

Quality Score

Status

Chromosome

Chromosomal Location

95760341-95818863 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 95765503 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 863 (S863T)

Ref Sequence

ENSEMBL: ENSMUSP00000088297 (fasta)

Gene Model

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

AlphaFold

Q6NXI6

Predicted Effect

probably damaging
Transcript: ENSMUST00000090791
AA Change: S863T

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000088297
Gene: ENSMUSG00000028106
AA Change: S863T

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: S779T

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1l2	T	C	10: 83,495,895 (GRCm38)	Y682C	probably benign	Het
Ank1	G	A	8: 23,119,434 (GRCm38)		probably null	Het
Arhgap1	A	G	2: 91,670,776 (GRCm38)	N399S	probably damaging	Het
Atp8a2	A	T	14: 60,016,799 (GRCm38)	I511N	possibly damaging	Het
Birc6	T	A	17: 74,599,940 (GRCm38)	C1428S	probably benign	Het
Col18a1	T	C	10: 77,113,109 (GRCm38)	T190A	possibly damaging	Het
Cpd	A	T	11: 76,840,425 (GRCm38)	D318E	probably benign	Het
Dync2h1	A	T	9: 7,125,912 (GRCm38)	V1898E	probably damaging	Het
Gon4l	T	C	3: 88,895,364 (GRCm38)	M1095T	probably damaging	Het
Gypa	G	A	8: 80,494,092 (GRCm38)		probably benign	Het
Irf9	G	A	14: 55,607,739 (GRCm38)	R352H	probably damaging	Het
Macf1	T	C	4: 123,471,375 (GRCm38)	T1633A	probably benign	Het
Mars2	T	C	1: 55,238,774 (GRCm38)	V512A	probably damaging	Het
Myo9a	A	G	9: 59,871,673 (GRCm38)	N1571D	probably benign	Het
Myrfl	T	C	10: 116,777,360 (GRCm38)	D846G	probably benign	Het
Olfr10	A	G	11: 49,318,335 (GRCm38)	D263G	probably benign	Het
Olfr1423	A	G	19: 12,035,855 (GRCm38)	S296P	possibly damaging	Het
Olfr319	A	T	11: 58,702,276 (GRCm38)	T192S	probably damaging	Het
Olfr57	T	C	10: 79,035,545 (GRCm38)	S250P	probably damaging	Het
Sdf4	T	A	4: 156,008,836 (GRCm38)	N208K	probably benign	Het
Sftpd	A	T	14: 41,172,466 (GRCm38)	V332D	probably benign	Het
Sh2b3	T	C	5: 121,818,655 (GRCm38)	D321G	probably benign	Het
Slc45a2	T	A	15: 11,001,182 (GRCm38)	N122K	probably damaging	Het
Slk	T	A	19: 47,641,993 (GRCm38)	F1170Y	probably damaging	Het
Spata7	A	C	12: 98,658,258 (GRCm38)	T140P	probably damaging	Het
Vmn2r117	A	G	17: 23,475,382 (GRCm38)	L497S	probably damaging	Het

Other mutations in Rprd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00766:Rprd2	APN	3	95,765,379 (GRCm38)	missense	possibly damaging	0.95
IGL00773:Rprd2	APN	3	95,765,109 (GRCm38)	missense	probably damaging	1.00
IGL00792:Rprd2	APN	3	95,785,104 (GRCm38)	missense	probably benign	0.05
IGL01022:Rprd2	APN	3	95,763,754 (GRCm38)	nonsense	probably null
IGL01121:Rprd2	APN	3	95,776,550 (GRCm38)	missense	probably damaging	1.00
IGL01299:Rprd2	APN	3	95,776,547 (GRCm38)	missense	probably damaging	1.00
IGL01387:Rprd2	APN	3	95,765,319 (GRCm38)	missense	probably benign
IGL01414:Rprd2	APN	3	95,765,525 (GRCm38)	missense	probably damaging	1.00
IGL02336:Rprd2	APN	3	95,787,310 (GRCm38)	missense	probably benign	0.17
R0131:Rprd2	UTSW	3	95,774,361 (GRCm38)	missense	probably damaging	1.00
R0131:Rprd2	UTSW	3	95,774,361 (GRCm38)	missense	probably damaging	1.00
R0132:Rprd2	UTSW	3	95,774,361 (GRCm38)	missense	probably damaging	1.00
R0574:Rprd2	UTSW	3	95,774,357 (GRCm38)	missense	possibly damaging	0.58
R0718:Rprd2	UTSW	3	95,766,387 (GRCm38)	missense	probably benign	0.30
R0847:Rprd2	UTSW	3	95,765,413 (GRCm38)	missense	probably benign	0.00
R0942:Rprd2	UTSW	3	95,765,418 (GRCm38)	missense	probably damaging	1.00
R0943:Rprd2	UTSW	3	95,784,247 (GRCm38)	missense	possibly damaging	0.88
R0980:Rprd2	UTSW	3	95,765,904 (GRCm38)	missense	probably damaging	1.00
R1448:Rprd2	UTSW	3	95,818,576 (GRCm38)	missense	possibly damaging	0.57
R1542:Rprd2	UTSW	3	95,765,676 (GRCm38)	missense	possibly damaging	0.69
R1577:Rprd2	UTSW	3	95,764,735 (GRCm38)	missense	probably damaging	1.00
R1598:Rprd2	UTSW	3	95,818,739 (GRCm38)	unclassified	probably benign
R1640:Rprd2	UTSW	3	95,763,747 (GRCm38)	unclassified	probably benign
R1670:Rprd2	UTSW	3	95,764,803 (GRCm38)	missense	probably damaging	1.00
R2430:Rprd2	UTSW	3	95,764,795 (GRCm38)	nonsense	probably null
R2966:Rprd2	UTSW	3	95,766,433 (GRCm38)	splice site	probably null
R3612:Rprd2	UTSW	3	95,764,152 (GRCm38)	missense	probably damaging	0.98
R3712:Rprd2	UTSW	3	95,764,560 (GRCm38)	missense	probably damaging	0.97
R3890:Rprd2	UTSW	3	95,765,224 (GRCm38)	missense	probably damaging	1.00
R4777:Rprd2	UTSW	3	95,787,374 (GRCm38)	missense	probably benign	0.41
R4783:Rprd2	UTSW	3	95,774,333 (GRCm38)	missense	probably benign	0.03
R4832:Rprd2	UTSW	3	95,774,171 (GRCm38)	missense	probably damaging	1.00
R4928:Rprd2	UTSW	3	95,764,537 (GRCm38)	missense	probably damaging	1.00
R4976:Rprd2	UTSW	3	95,766,349 (GRCm38)	missense	probably damaging	1.00
R4989:Rprd2	UTSW	3	95,765,320 (GRCm38)	missense	probably benign	0.03
R5134:Rprd2	UTSW	3	95,765,320 (GRCm38)	missense	probably benign	0.03
R5244:Rprd2	UTSW	3	95,790,182 (GRCm38)	missense	possibly damaging	0.80
R5314:Rprd2	UTSW	3	95,764,089 (GRCm38)	missense	possibly damaging	0.53
R5579:Rprd2	UTSW	3	95,785,059 (GRCm38)	missense	probably damaging	1.00
R5954:Rprd2	UTSW	3	95,764,863 (GRCm38)	missense	probably damaging	1.00
R6016:Rprd2	UTSW	3	95,787,373 (GRCm38)	missense	probably damaging	0.97
R6332:Rprd2	UTSW	3	95,780,441 (GRCm38)	missense	probably damaging	0.99
R6403:Rprd2	UTSW	3	95,766,087 (GRCm38)	missense	possibly damaging	0.77
R6415:Rprd2	UTSW	3	95,774,219 (GRCm38)	missense	probably benign	0.00
R7064:Rprd2	UTSW	3	95,765,016 (GRCm38)	missense	probably damaging	1.00
R7313:Rprd2	UTSW	3	95,776,710 (GRCm38)	missense	probably damaging	1.00
R7496:Rprd2	UTSW	3	95,765,775 (GRCm38)	missense	probably damaging	1.00
R7535:Rprd2	UTSW	3	95,776,587 (GRCm38)	missense	probably damaging	0.96
R8716:Rprd2	UTSW	3	95,776,793 (GRCm38)	missense	probably damaging	1.00
R8822:Rprd2	UTSW	3	95,784,301 (GRCm38)	missense	probably damaging	1.00
R8891:Rprd2	UTSW	3	95,764,055 (GRCm38)	missense	possibly damaging	0.85
R8922:Rprd2	UTSW	3	95,780,584 (GRCm38)	missense	probably damaging	0.99
R9030:Rprd2	UTSW	3	95,784,310 (GRCm38)	missense	probably benign	0.15
R9623:Rprd2	UTSW	3	95,772,193 (GRCm38)	missense	probably benign	0.30
RF034:Rprd2	UTSW	3	95,766,320 (GRCm38)	small deletion	probably benign
RF056:Rprd2	UTSW	3	95,766,319 (GRCm38)	small deletion	probably benign

Posted On

2015-04-16