Mutagenetix > Incidental Mutation

Incidental Mutation 'R5314:Rprd2'

405728

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

042897-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.772) question?

Stock #

R5314 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

95760341-95818863 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95764089 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1334 (V1334A)

Ref Sequence

ENSEMBL: ENSMUSP00000088297 (fasta)

Gene Model

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

AlphaFold

Q6NXI6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090791
AA Change: V1334A

PolyPhen 2 Score 0.532 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000088297
Gene: ENSMUSG00000028106
AA Change: V1334A

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: V1250A

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	T	C	3: 121,679,523	F109S	unknown	Het
Ankhd1	A	T	18: 36,561,058		probably null	Het
Atp8a1	C	T	5: 67,705,905		probably null	Het
C77080	T	C	4: 129,224,212	T208A	possibly damaging	Het
Ccdc136	G	T	6: 29,417,498	V707F	probably benign	Het
Ccdc157	A	T	11: 4,150,078	C91*	probably null	Het
Ceacam3	T	A	7: 17,158,371	N346K	possibly damaging	Het
Chd4	A	G	6: 125,100,588	E74G	probably damaging	Het
Cntn1	A	G	15: 92,295,011	M665V	probably benign	Het
Crtc2	C	T	3: 90,261,041	Q364*	probably null	Het
Csf1r	T	A	18: 61,129,724	I857N	probably damaging	Het
Dner	C	T	1: 84,580,739	G168D	probably damaging	Het
Edar	T	C	10: 58,607,360	T315A	probably benign	Het
Egflam	A	G	15: 7,304,012	V153A	probably damaging	Het
Enoph1	T	C	5: 100,063,823	I193T	possibly damaging	Het
Epc1	A	G	18: 6,462,969	I9T	probably damaging	Het
Fbxw18	T	A	9: 109,693,178	I208F	possibly damaging	Het
Gm4841	A	G	18: 60,270,292	V243A	probably benign	Het
Herc2	T	C	7: 56,219,786	V4297A	probably damaging	Het
Itsn2	C	T	12: 4,627,960	P106S	probably benign	Het
Kcnu1	A	G	8: 25,862,458	T218A	probably damaging	Het
Kif1a	A	G	1: 93,018,498	S1677P	probably damaging	Het
Krt14	A	T	11: 100,204,700	M293K	probably damaging	Het
Meis3	T	A	7: 16,184,064	V307E	probably damaging	Het
Nadk2	A	C	15: 9,108,313	I417L	probably benign	Het
Nav2	AAGCAGCAGCAGCAGCAGCAGCAGCA	AAGCAGCAGCAGCAGCAGCAGCA	7: 49,408,692		probably benign	Het
Neb	A	T	2: 52,281,503	N1659K	probably benign	Het
Olfr1490	T	C	19: 13,655,266	V274A	probably benign	Het
Olfr284	G	A	15: 98,340,365	A208V	probably benign	Het
Olfr951	T	C	9: 39,394,489	S233P	probably damaging	Het
Pde3b	A	T	7: 114,494,537	N339Y	probably damaging	Het
Pde8b	A	G	13: 95,086,853	F298L	possibly damaging	Het
Phtf1	G	A	3: 103,999,287	R606H	probably damaging	Het
Psd4	A	G	2: 24,400,516	D535G	possibly damaging	Het
Rad51ap1	A	G	6: 126,928,158	V130A	probably damaging	Het
Rbm11	T	C	16: 75,596,586	F57L	probably damaging	Het
Satb2	T	C	1: 56,831,527	E433G	probably damaging	Het
Sema6b	G	A	17: 56,128,413	R277*	probably null	Het
Sepsecs	A	T	5: 52,647,673	S349T	probably benign	Het
Slc35b2	T	C	17: 45,566,498	Y184H	probably damaging	Het
Slc7a2	T	C	8: 40,915,030		probably null	Het
Smc1b	T	A	15: 85,070,865	Y1062F	probably benign	Het
Snrnp70	G	A	7: 45,377,052	R298*	probably null	Het
Sntb1	C	G	15: 55,642,795	G461R	probably damaging	Het
Taar8c	A	T	10: 24,101,348	C189S	probably damaging	Het
Tas1r2	T	A	4: 139,655,361	D103E	probably damaging	Het
Timd2	T	C	11: 46,677,260	I236V	probably benign	Het
Tmem87a	A	G	2: 120,377,926	V316A	probably damaging	Het
Treml2	T	A	17: 48,300,573	L16Q	probably damaging	Het
Wdr66	A	G	5: 123,322,563	D1196G	probably benign	Het
Zcchc14	G	A	8: 121,608,598		probably benign	Het
Zfp462	T	C	4: 55,013,178	Y567H	probably damaging	Het
Zfp551	G	A	7: 12,416,160	R441*	probably null	Het
Zfp930	A	G	8: 69,226,721	I59M	probably benign	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
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'- AAGCTTCCCTAGGCCGAAAG -3'
(R):5'- TTACAAAGGAGGCATCTCTGG -3'

Sequencing Primer
(F):5'- TTCCCTAGGCCGAAAGTCTGG -3'
(R):5'- ATCTCTGGCCCACGCTG -3'

Posted On

2016-07-22