Mutagenetix > Incidental Mutation

Incidental Mutation 'R5954:Rprd2'

471039

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

044143-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.700) question?

Stock #

R5954 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95760341-95818863 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95764863 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1076 (E1076G)

Ref Sequence

ENSEMBL: ENSMUSP00000088297 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090791] [ENSMUST00000197501]

AlphaFold

Q6NXI6

Predicted Effect

probably damaging
Transcript: ENSMUST00000090791
AA Change: E1076G

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

SMART Domains

Protein: ENSMUSP00000088297
Gene: ENSMUSG00000028106
AA Change: E1076G

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

probably benign
Transcript: ENSMUST00000197501

Predicted Effect

unknown
Transcript: ENSMUST00000200164
AA Change: E992G

Meta Mutation Damage Score

0.1143

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	C	17: 24,397,416	I944T	probably benign	Het
Ank2	T	C	3: 126,997,861	T823A	probably benign	Het
Ankrd42	C	G	7: 92,623,967		probably null	Het
Anks4b	T	A	7: 120,182,173	N142K	possibly damaging	Het
Armc5	A	G	7: 128,242,272	E484G	probably benign	Het
B4galnt3	A	G	6: 120,225,188	F118L	possibly damaging	Het
Bbs12	C	T	3: 37,320,002	L200F	possibly damaging	Het
Cacna1h	A	G	17: 25,383,201	F1555S	probably damaging	Het
Cds2	A	G	2: 132,297,271	T145A	probably benign	Het
Cenps	C	A	4: 149,130,201		probably benign	Het
Chd6	A	C	2: 160,965,827	H1822Q	probably benign	Het
Chdh	C	T	14: 30,031,181	R16C	possibly damaging	Het
Cnga1	T	C	5: 72,604,878	D431G	probably damaging	Het
Dock8	G	A	19: 25,171,619	R1487Q	probably damaging	Het
Farp1	T	A	14: 121,222,667	V116D	probably damaging	Het
Fbxo24	T	A	5: 137,619,681	T274S	probably damaging	Het
Fmnl3	G	A	15: 99,325,910	R302W	probably damaging	Het
Gatad2b	T	C	3: 90,351,441	L257P	probably damaging	Het
Gm20402	C	T	3: 52,268,890	P30L	probably damaging	Het
Gm7932	C	T	6: 48,862,859		noncoding transcript	Het
Gpatch8	A	T	11: 102,480,941	D590E	unknown	Het
Herc1	T	G	9: 66,451,492		probably benign	Het
Hsd3b2	T	A	3: 98,711,559	I357F	probably benign	Het
Ipo5	A	G	14: 120,919,984	Y78C	probably damaging	Het
Itga8	C	A	2: 12,132,486	A23S	probably damaging	Het
Itgb4	C	T	11: 115,984,157	R447W	probably benign	Het
Kat2a	A	G	11: 100,708,898	V451A	possibly damaging	Het
Knstrn	A	G	2: 118,830,955		probably benign	Het
Med23	A	G	10: 24,870,483		probably benign	Het
Mefv	A	G	16: 3,715,715	Y231H	probably benign	Het
Olfr1425	A	T	19: 12,074,083	I183N	possibly damaging	Het
Olfr1507	T	A	14: 52,490,167	I266F	probably benign	Het
Olfr494	T	A	7: 108,367,601	I37N	probably damaging	Het
Olfr935	A	G	9: 38,995,415	S7P	probably damaging	Het
Pak7	G	T	2: 136,116,463	T235K	probably benign	Het
Plppr3	G	T	10: 79,866,126	P294Q	probably benign	Het
Prepl	A	G	17: 85,064,649	F725L	probably benign	Het
Ptchd3	A	T	11: 121,836,587		probably benign	Het
Sarm1	C	A	11: 78,490,602	E352*	probably null	Het
Sccpdh	T	A	1: 179,680,588	H14Q	probably benign	Het
Senp7	A	G	16: 56,169,871	I661V	probably benign	Het
Sept3	T	C	15: 82,290,427	F140L	probably damaging	Het
Spag6	G	T	2: 18,710,606	Q65H	probably damaging	Het
Tnni3	C	T	7: 4,519,540	R137H	probably damaging	Het
Trank1	A	G	9: 111,365,133	S742G	probably benign	Het
Ucn3	T	C	13: 3,941,413	I80V	probably benign	Het
Ulk2	A	T	11: 61,803,796		probably benign	Het
Uncx	C	T	5: 139,547,629	S483L	probably benign	Het
Vps39	A	G	2: 120,324,662	V550A	probably damaging	Het
Zfp697	C	A	3: 98,428,593	T558K	probably damaging	Het
Zfp790	G	T	7: 29,829,504	G538V	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
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
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'- GGTGTGCTCAGATCAAACCAAC -3'
(R):5'- CGATTTCCACCACATCGACG -3'

Sequencing Primer
(F):5'- TTGAAACCTCGCGCCCATG -3'
(R):5'- CACCACATCGACGATTGAGTTTAAG -3'

Posted On

2017-03-31