Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01022:Rprd2'

53502

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: 0.742) question?

Stock #

IGL01022

Quality Score

Status

Chromosome

Chromosomal Location

95760341-95818863 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 95763754 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 1362 (R1362*)

Gene Model

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

AlphaFold

Q6NXI6

Predicted Effect

probably null
Transcript: ENSMUST00000090791
AA Change: R1446*

SMART Domains

Protein: ENSMUSP00000088297
Gene: ENSMUSG00000028106
AA Change: R1446*

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

probably null
Transcript: ENSMUST00000200164
AA Change: R1362*

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts14	A	G	10: 61,202,942	S927P	probably benign	Het
Arfgef1	G	T	1: 10,174,076	F987L	probably damaging	Het
Asph	A	T	4: 9,601,344	N191K	possibly damaging	Het
Bmpr1b	A	T	3: 141,871,338	C71S	probably damaging	Het
Bod1l	A	T	5: 41,794,309	S2920T	probably damaging	Het
Camta2	G	A	11: 70,671,482	R1030*	probably null	Het
Chd8	T	C	14: 52,236,993	T194A	probably benign	Het
Col9a3	A	T	2: 180,616,434	I549F	probably damaging	Het
Fstl4	A	G	11: 53,186,741	N775S	probably benign	Het
Gm10800	T	A	2: 98,667,231		probably benign	Het
Gm5117	T	A	8: 31,738,487		noncoding transcript	Het
Hap1	A	G	11: 100,349,548	L112P	probably benign	Het
Hcls1	C	A	16: 36,951,126		probably benign	Het
Kmt2c	A	G	5: 25,302,701		probably benign	Het
Lct	T	A	1: 128,300,859	I966L	probably benign	Het
Myo1h	A	T	5: 114,336,300	I451F	possibly damaging	Het
Notch4	G	A	17: 34,565,697	C128Y	probably damaging	Het
Oca2	T	A	7: 56,324,756	N484K	probably damaging	Het
Olfr585	T	G	7: 103,097,870	L43R	probably damaging	Het
Olfr8	A	T	10: 78,955,354	I50F	possibly damaging	Het
Sema3a	C	T	5: 13,473,466	T134I	probably damaging	Het
Sfta2	C	T	17: 35,650,444	T74I	possibly damaging	Het
Slfn10-ps	C	T	11: 83,035,527		noncoding transcript	Het
Spag11a	A	T	8: 19,157,989	Q15H	probably damaging	Het
Tbc1d22a	G	A	15: 86,301,555	D282N	probably damaging	Het
Tmbim6	G	A	15: 99,402,122	V40M	possibly damaging	Het
Tmem259	A	G	10: 79,983,974	V22A	probably damaging	Het
Tnik	T	C	3: 28,625,228		probably null	Het
Unc13c	T	C	9: 73,517,328	D2002G	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
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
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

2013-06-28