Mutagenetix > Incidental Mutation

Incidental Mutation 'R3890:Rprd2'

310326

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

040802-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.772) question?

Stock #

R3890 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95760341-95818863 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 95765224 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 956 (F956I)

Ref Sequence

ENSEMBL: ENSMUSP00000088297 (fasta)

Gene Model

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

AlphaFold

Q6NXI6

Predicted Effect

probably damaging
Transcript: ENSMUST00000090791
AA Change: F956I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000088297
Gene: ENSMUSG00000028106
AA Change: F956I

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: F872I

Meta Mutation Damage Score

0.0796

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

98% (60/61)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029H14Rik	T	C	8: 13,554,700	Y201C	probably damaging	Het
Adam10	A	G	9: 70,768,854	T624A	probably benign	Het
Atf2	T	C	2: 73,863,213	S2G	probably damaging	Het
Atf7ip	T	C	6: 136,587,045	V762A	possibly damaging	Het
Cacna1e	C	T	1: 154,483,553	R265Q	probably damaging	Het
Cckbr	A	C	7: 105,426,169	T49P	probably benign	Het
Clip2	T	C	5: 134,522,993	K92E	probably damaging	Het
Clrn3	T	C	7: 135,518,465	T131A	possibly damaging	Het
Cntrl	T	G	2: 35,170,480	C1342G	probably benign	Het
Def8	T	C	8: 123,458,344		probably benign	Het
Dennd4a	T	C	9: 64,872,028	S598P	probably damaging	Het
Deup1	A	G	9: 15,599,713	Y257H	probably damaging	Het
Dnajc28	G	A	16: 91,616,867	T187M	probably damaging	Het
Ect2	T	C	3: 27,138,540	D387G	probably damaging	Het
Fam208b	T	C	13: 3,596,785	E80G	probably damaging	Het
Fat3	G	A	9: 15,998,271	S2145F	probably damaging	Het
Fmo4	A	T	1: 162,794,055	I529N	probably benign	Het
Frs3	A	G	17: 47,703,435	D351G	probably damaging	Het
Gcat	T	A	15: 79,037,176	V378D	probably damaging	Het
Hmcn1	A	T	1: 150,635,195	D3592E	probably damaging	Het
Hspa4l	A	T	3: 40,781,594	Q570L	possibly damaging	Het
Ifi213	A	G	1: 173,567,256	I571T	probably benign	Het
Lsamp	T	C	16: 39,984,692	V11A	probably benign	Het
Mettl1	T	C	10: 127,045,129		probably null	Het
Mettl15	A	G	2: 109,191,579	I127T	probably benign	Het
Mipep	T	C	14: 60,808,995	L322P	probably damaging	Het
Mob1b	T	A	5: 88,753,202	I156K	probably damaging	Het
Mobp	G	A	9: 120,167,956	C51Y	probably damaging	Het
Ms4a3	T	C	19: 11,632,907	N97S	probably benign	Het
Myrip	A	G	9: 120,422,258	E210G	probably damaging	Het
Nos1ap	T	C	1: 170,349,456	Y126C	probably damaging	Het
Nuak2	G	T	1: 132,331,485	A342S	possibly damaging	Het
Obscn	T	C	11: 59,131,646	R758G	possibly damaging	Het
Olfr170	A	G	16: 19,606,455	I71T	probably damaging	Het
Olfr58	T	G	9: 19,783,715	I194S	probably benign	Het
Olfr718-ps1	G	T	5: 143,137,397	S290R	probably benign	Het
Pdgfra	A	G	5: 75,167,927	N240S	probably null	Het
Pdxdc1	T	C	16: 13,836,448	T759A	probably benign	Het
Pex2	C	T	3: 5,560,948	C267Y	probably damaging	Het
Pgghg	T	C	7: 140,945,703	I473T	probably damaging	Het
Prdm15	T	C	16: 97,799,571	H829R	probably damaging	Het
Pum1	T	C	4: 130,764,082	L774P	probably damaging	Het
Rcbtb1	T	A	14: 59,228,355	H382Q	possibly damaging	Het
Samd1	G	A	8: 83,997,732		probably benign	Het
Slc4a11	A	T	2: 130,685,785	S592T	probably damaging	Het
Slc5a4b	A	G	10: 76,062,260	V540A	probably benign	Het
Slfn8	G	A	11: 83,004,444	T512I	possibly damaging	Het
Slx4	A	T	16: 3,979,909	I1537N	probably damaging	Het
Sorl1	G	A	9: 42,004,105	T1276M	probably damaging	Het
Specc1	C	T	11: 62,151,913	T872M	probably benign	Het
Speer4f1	T	C	5: 17,479,502	I176T	probably damaging	Het
Spint1	T	C	2: 119,248,802	I455T	probably benign	Het
Srp54a	A	G	12: 55,089,193		probably null	Het
Stoml3	T	A	3: 53,507,454	N222K	probably damaging	Het
Syce1	C	A	7: 140,779,896	L83F	probably damaging	Het
Tanc2	A	T	11: 105,798,678	D222V	probably damaging	Het
Thsd7a	G	A	6: 12,418,337	S631L	probably benign	Het
Vmn2r73	G	A	7: 85,857,936	H723Y	probably benign	Het
Wdfy4	T	C	14: 33,047,280	E2076G	probably 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
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
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'- CGTCGATGTGGTGGAAATCG -3'
(R):5'- CTGTCTAGTTACAACCACAGGG -3'

Sequencing Primer
(F):5'- GGAGGCCAGGACTTTTTCC -3'
(R):5'- ACCACAGGGCCCAAGAGTTTG -3'

Posted On

2015-04-17