Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01387:Rprd2'

79086

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 #

IGL01387

Quality Score

Status

Chromosome

Chromosomal Location

95667653-95726175 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 95672631 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 924 (R924H)

Ref Sequence

ENSEMBL: ENSMUSP00000088297 (fasta)

Gene Model

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

AlphaFold

Q6NXI6

Predicted Effect

probably benign
Transcript: ENSMUST00000090791
AA Change: R924H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000088297
Gene: ENSMUSG00000028106
AA Change: R924H

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: R840H

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	C	10: 79,835,596 (GRCm39)	I288T	possibly damaging	Het
Akr1c13	T	A	13: 4,247,794 (GRCm39)		probably null	Het
Ano2	T	C	6: 125,990,240 (GRCm39)	L787P	probably damaging	Het
Arf4	A	T	14: 26,374,300 (GRCm39)	I73F	possibly damaging	Het
Atp6v1e1	A	G	6: 120,772,732 (GRCm39)		probably null	Het
Ccdc9	A	C	7: 16,018,424 (GRCm39)	M1R	probably null	Het
Cep162	A	G	9: 87,093,864 (GRCm39)	L838S	probably benign	Het
Cfap251	T	A	5: 123,421,609 (GRCm39)	I654N	probably damaging	Het
Cfi	T	A	3: 129,668,562 (GRCm39)		probably benign	Het
Creb3l3	T	C	10: 80,927,110 (GRCm39)	T107A	probably benign	Het
Erlin2	T	C	8: 27,526,576 (GRCm39)	L312P	probably benign	Het
Etv1	T	G	12: 38,911,326 (GRCm39)	M384R	probably damaging	Het
Exph5	G	T	9: 53,285,265 (GRCm39)	S782I	possibly damaging	Het
Fsd1	C	T	17: 56,303,733 (GRCm39)	S491F	probably damaging	Het
Fsip2	A	G	2: 82,823,326 (GRCm39)	N6353S	possibly damaging	Het
Gk5	T	C	9: 96,059,607 (GRCm39)		probably null	Het
Gm11168	T	G	9: 3,005,128 (GRCm39)	S202R	possibly damaging	Het
Hdlbp	T	C	1: 93,341,310 (GRCm39)	D1016G	possibly damaging	Het
Kpna4	A	G	3: 69,009,590 (GRCm39)		probably benign	Het
Lrrn2	T	C	1: 132,866,096 (GRCm39)	V387A	possibly damaging	Het
Or4a76	T	A	2: 89,460,964 (GRCm39)	R93*	probably null	Het
Or5bw2	A	G	7: 6,573,854 (GRCm39)	Y288C	probably damaging	Het
Or6c33	T	A	10: 129,853,710 (GRCm39)	M160K	probably damaging	Het
Or8g23	A	G	9: 38,971,617 (GRCm39)	L115S	probably damaging	Het
Or8k37	T	C	2: 86,469,594 (GRCm39)	T153A	probably benign	Het
Plekhs1	A	G	19: 56,459,403 (GRCm39)	Q51R	probably benign	Het
Rab27b	T	A	18: 70,118,380 (GRCm39)	D179V	possibly damaging	Het
Shprh	T	C	10: 11,045,998 (GRCm39)	I905T	probably damaging	Het
Trpm8	T	C	1: 88,271,009 (GRCm39)	L433P	probably damaging	Het
Urb1	A	G	16: 90,554,649 (GRCm39)	L1861S	possibly damaging	Het
Vmn2r124	C	A	17: 18,283,188 (GRCm39)	T294K	probably damaging	Het
Znrf3	A	T	11: 5,288,656 (GRCm39)	C37*	probably null	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
IGL01414:Rprd2	APN	3	95,672,837 (GRCm39)	missense	probably damaging	1.00
IGL02283:Rprd2	APN	3	95,672,815 (GRCm39)	missense	probably damaging	0.98
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

2013-11-05