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

2810036A19Rik, 6720469I21Rik, 4930535B03Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.745) question?

Stock #

IGL02283

Quality Score

Status

Chromosome

Chromosomal Location

95667653-95726175 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 95672815 bp (GRCm39)

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: 83,331,759 (GRCm39)	Y682C	probably benign	Het
Ank1	G	A	8: 23,609,450 (GRCm39)		probably null	Het
Arhgap1	A	G	2: 91,501,121 (GRCm39)	N399S	probably damaging	Het
Atp8a2	A	T	14: 60,254,248 (GRCm39)	I511N	possibly damaging	Het
Birc6	T	A	17: 74,906,935 (GRCm39)	C1428S	probably benign	Het
Col18a1	T	C	10: 76,948,943 (GRCm39)	T190A	possibly damaging	Het
Cpd	A	T	11: 76,731,251 (GRCm39)	D318E	probably benign	Het
Dync2h1	A	T	9: 7,125,912 (GRCm39)	V1898E	probably damaging	Het
Gon4l	T	C	3: 88,802,671 (GRCm39)	M1095T	probably damaging	Het
Gypa	G	A	8: 81,220,721 (GRCm39)		probably benign	Het
Irf9	G	A	14: 55,845,196 (GRCm39)	R352H	probably damaging	Het
Macf1	T	C	4: 123,365,168 (GRCm39)	T1633A	probably benign	Het
Mars2	T	C	1: 55,277,933 (GRCm39)	V512A	probably damaging	Het
Myo9a	A	G	9: 59,778,956 (GRCm39)	N1571D	probably benign	Het
Myrfl	T	C	10: 116,613,265 (GRCm39)	D846G	probably benign	Het
Or2ak6	A	T	11: 58,593,102 (GRCm39)	T192S	probably damaging	Het
Or2y1b	A	G	11: 49,209,162 (GRCm39)	D263G	probably benign	Het
Or4d11	A	G	19: 12,013,219 (GRCm39)	S296P	possibly damaging	Het
Or7a41	T	C	10: 78,871,379 (GRCm39)	S250P	probably damaging	Het
Sdf4	T	A	4: 156,093,293 (GRCm39)	N208K	probably benign	Het
Sftpd	A	T	14: 40,894,423 (GRCm39)	V332D	probably benign	Het
Sh2b3	T	C	5: 121,956,718 (GRCm39)	D321G	probably benign	Het
Slc45a2	T	A	15: 11,001,268 (GRCm39)	N122K	probably damaging	Het
Slk	T	A	19: 47,630,432 (GRCm39)	F1170Y	probably damaging	Het
Spata7	A	C	12: 98,624,517 (GRCm39)	T140P	probably damaging	Het
Vmn2r117	A	G	17: 23,694,356 (GRCm39)	L497S	probably damaging	Het

Other mutations in Rprd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00766:Rprd2	APN	3	95,672,691 (GRCm39)	missense	possibly damaging	0.95
IGL00773:Rprd2	APN	3	95,672,421 (GRCm39)	missense	probably damaging	1.00
IGL00792:Rprd2	APN	3	95,692,416 (GRCm39)	missense	probably benign	0.05
IGL01022:Rprd2	APN	3	95,671,066 (GRCm39)	nonsense	probably null
IGL01121:Rprd2	APN	3	95,683,862 (GRCm39)	missense	probably damaging	1.00
IGL01299:Rprd2	APN	3	95,683,859 (GRCm39)	missense	probably damaging	1.00
IGL01387:Rprd2	APN	3	95,672,631 (GRCm39)	missense	probably benign
IGL01414:Rprd2	APN	3	95,672,837 (GRCm39)	missense	probably damaging	1.00
IGL02336:Rprd2	APN	3	95,694,622 (GRCm39)	missense	probably benign	0.17
R0131:Rprd2	UTSW	3	95,681,673 (GRCm39)	missense	probably damaging	1.00
R0131:Rprd2	UTSW	3	95,681,673 (GRCm39)	missense	probably damaging	1.00
R0132:Rprd2	UTSW	3	95,681,673 (GRCm39)	missense	probably damaging	1.00
R0574:Rprd2	UTSW	3	95,681,669 (GRCm39)	missense	possibly damaging	0.58
R0718:Rprd2	UTSW	3	95,673,699 (GRCm39)	missense	probably benign	0.30
R0847:Rprd2	UTSW	3	95,672,725 (GRCm39)	missense	probably benign	0.00
R0942:Rprd2	UTSW	3	95,672,730 (GRCm39)	missense	probably damaging	1.00
R0943:Rprd2	UTSW	3	95,691,559 (GRCm39)	missense	possibly damaging	0.88
R0980:Rprd2	UTSW	3	95,673,216 (GRCm39)	missense	probably damaging	1.00
R1448:Rprd2	UTSW	3	95,725,888 (GRCm39)	missense	possibly damaging	0.57
R1542:Rprd2	UTSW	3	95,672,988 (GRCm39)	missense	possibly damaging	0.69
R1577:Rprd2	UTSW	3	95,672,047 (GRCm39)	missense	probably damaging	1.00
R1598:Rprd2	UTSW	3	95,726,051 (GRCm39)	unclassified	probably benign
R1640:Rprd2	UTSW	3	95,671,059 (GRCm39)	unclassified	probably benign
R1670:Rprd2	UTSW	3	95,672,115 (GRCm39)	missense	probably damaging	1.00
R2430:Rprd2	UTSW	3	95,672,107 (GRCm39)	nonsense	probably null
R2966:Rprd2	UTSW	3	95,673,745 (GRCm39)	splice site	probably null
R3612:Rprd2	UTSW	3	95,671,464 (GRCm39)	missense	probably damaging	0.98
R3712:Rprd2	UTSW	3	95,671,872 (GRCm39)	missense	probably damaging	0.97
R3890:Rprd2	UTSW	3	95,672,536 (GRCm39)	missense	probably damaging	1.00
R4777:Rprd2	UTSW	3	95,694,686 (GRCm39)	missense	probably benign	0.41
R4783:Rprd2	UTSW	3	95,681,645 (GRCm39)	missense	probably benign	0.03
R4832:Rprd2	UTSW	3	95,681,483 (GRCm39)	missense	probably damaging	1.00
R4928:Rprd2	UTSW	3	95,671,849 (GRCm39)	missense	probably damaging	1.00
R4976:Rprd2	UTSW	3	95,673,661 (GRCm39)	missense	probably damaging	1.00
R4989:Rprd2	UTSW	3	95,672,632 (GRCm39)	missense	probably benign	0.03
R5134:Rprd2	UTSW	3	95,672,632 (GRCm39)	missense	probably benign	0.03
R5244:Rprd2	UTSW	3	95,697,494 (GRCm39)	missense	possibly damaging	0.80
R5314:Rprd2	UTSW	3	95,671,401 (GRCm39)	missense	possibly damaging	0.53
R5579:Rprd2	UTSW	3	95,692,371 (GRCm39)	missense	probably damaging	1.00
R5954:Rprd2	UTSW	3	95,672,175 (GRCm39)	missense	probably damaging	1.00
R6016:Rprd2	UTSW	3	95,694,685 (GRCm39)	missense	probably damaging	0.97
R6332:Rprd2	UTSW	3	95,687,753 (GRCm39)	missense	probably damaging	0.99
R6403:Rprd2	UTSW	3	95,673,399 (GRCm39)	missense	possibly damaging	0.77
R6415:Rprd2	UTSW	3	95,681,531 (GRCm39)	missense	probably benign	0.00
R7064:Rprd2	UTSW	3	95,672,328 (GRCm39)	missense	probably damaging	1.00
R7313:Rprd2	UTSW	3	95,684,022 (GRCm39)	missense	probably damaging	1.00
R7496:Rprd2	UTSW	3	95,673,087 (GRCm39)	missense	probably damaging	1.00
R7535:Rprd2	UTSW	3	95,683,899 (GRCm39)	missense	probably damaging	0.96
R8716:Rprd2	UTSW	3	95,684,105 (GRCm39)	missense	probably damaging	1.00
R8822:Rprd2	UTSW	3	95,691,613 (GRCm39)	missense	probably damaging	1.00
R8891:Rprd2	UTSW	3	95,671,367 (GRCm39)	missense	possibly damaging	0.85
R8922:Rprd2	UTSW	3	95,687,896 (GRCm39)	missense	probably damaging	0.99
R9030:Rprd2	UTSW	3	95,691,622 (GRCm39)	missense	probably benign	0.15
R9623:Rprd2	UTSW	3	95,679,505 (GRCm39)	missense	probably benign	0.30
RF034:Rprd2	UTSW	3	95,673,632 (GRCm39)	small deletion	probably benign
RF056:Rprd2	UTSW	3	95,673,631 (GRCm39)	small deletion	probably benign

Posted On

2015-04-16