Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01121:Rprd2'

50765

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

6720469I21Rik, 2810036A19Rik, 4930535B03Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.700) question?

Stock #

IGL01121

Quality Score

Status

Chromosome

Chromosomal Location

95760341-95818863 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95776550 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 373 (L373P)

Ref Sequence

ENSEMBL: ENSMUSP00000143240 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090791] [ENSMUST00000197449]

AlphaFold

Q6NXI6

Predicted Effect

probably damaging
Transcript: ENSMUST00000090791
AA Change: L391P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000088297
Gene: ENSMUSG00000028106
AA Change: L391P

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 damaging
Transcript: ENSMUST00000197449
AA Change: L373P

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

SMART Domains

Protein: ENSMUSP00000143240
Gene: ENSMUSG00000028106
AA Change: L373P

Domain	Start	End	E-Value	Type
RPR	26	146	3.2e-32	SMART
coiled coil region	288	313	N/A	INTRINSIC
low complexity region	314	325	N/A	INTRINSIC
low complexity region	413	447	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198740

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199308

Predicted Effect

unknown
Transcript: ENSMUST00000200164
AA Change: L307P

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200428

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700046A07Rik	G	A	18: 62,755,148		noncoding transcript	Het
4930432E11Rik	A	T	7: 29,574,001		noncoding transcript	Het
Alg3	T	C	16: 20,610,647	E31G	probably damaging	Het
Arhgap29	A	G	3: 122,009,863	E764G	probably damaging	Het
Atp5j2	C	A	5: 145,184,568	V68L	probably benign	Het
Birc6	T	A	17: 74,631,038	I2645K	probably benign	Het
Capn11	A	G	17: 45,639,132	S369P	probably benign	Het
Car4	A	T	11: 84,964,346		probably null	Het
Ccdc185	C	T	1: 182,748,657	V156I	probably benign	Het
Cpsf2	G	T	12: 101,988,706	E245D	probably damaging	Het
Dnah11	T	C	12: 118,050,695	D2019G	probably benign	Het
Dscc1	A	G	15: 55,082,325		probably benign	Het
Dzip3	T	C	16: 48,944,881	D490G	probably benign	Het
E2f8	G	A	7: 48,867,821	Q745*	probably null	Het
Fat3	T	A	9: 15,998,401	T2102S	probably benign	Het
Fgf7	C	T	2: 126,088,232		probably benign	Het
Fstl4	T	C	11: 52,814,637	F47L	probably benign	Het
Gm15097	A	T	X: 149,804,328	R129S	possibly damaging	Het
Gm4297	C	T	X: 24,552,615	D200N	probably benign	Het
Itgb5	G	T	16: 33,919,989	D490Y	probably benign	Het
Kansl1	A	G	11: 104,335,596	S912P	probably benign	Het
Kcnq3	A	T	15: 66,005,977		probably benign	Het
Kctd6	A	G	14: 8,222,656	H166R	possibly damaging	Het
Kel	T	C	6: 41,702,409	D140G	probably benign	Het
Lrif1	C	A	3: 106,735,664	S177*	probably null	Het
Lrp1	A	T	10: 127,583,853	C962*	probably null	Het
Lypd5	A	T	7: 24,351,551	Y29F	probably benign	Het
Mmrn1	A	G	6: 60,975,944	D403G	possibly damaging	Het
Nhsl1	T	G	10: 18,511,710	V244G	probably damaging	Het
Olfr781	T	C	10: 129,332,935	I18T	probably benign	Het
Ptprd	A	T	4: 75,954,201		probably benign	Het
Rcan2	A	T	17: 44,017,884	I69L	probably damaging	Het
Slc10a4	T	C	5: 73,007,586	C174R	probably damaging	Het
Tas2r134	C	T	2: 51,627,989	T160I	probably damaging	Het
Tbc1d19	T	A	5: 53,897,062	L464*	probably null	Het
Tmem45a2	C	T	16: 57,040,790	D225N	possibly damaging	Het
Unc79	G	A	12: 103,165,631	C2139Y	probably damaging	Het
Vmn2r101	G	T	17: 19,589,674	G241C	probably damaging	Het
Vmn2r91	T	C	17: 18,136,504	V811A	possibly damaging	Het
Wdr11	T	C	7: 129,628,022	Y844H	probably benign	Het
Wdr70	T	C	15: 7,873,174	K656E	possibly damaging	Het
Zfp579	C	A	7: 4,993,247	C555F	possibly 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
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
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

Posted On

2013-06-21