Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01414:Rprd2'

80174

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

2810036A19Rik, 6720469I21Rik, 4930535B03Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.745) question?

Stock #

IGL01414

Quality Score

Status

Chromosome

Chromosomal Location

95667653-95726175 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 95672837 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 855 (F855L)

Ref Sequence

ENSEMBL: ENSMUSP00000088297 (fasta)

Gene Model

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

AlphaFold

Q6NXI6

Predicted Effect

probably damaging
Transcript: ENSMUST00000090791
AA Change: F855L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000088297
Gene: ENSMUSG00000028106
AA Change: F855L

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: F771L

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agrn	C	T	4: 156,279,696 (GRCm39)		probably null	Het
Arhgap45	T	A	10: 79,862,938 (GRCm39)	S705T	probably damaging	Het
B4galt4	A	G	16: 38,578,153 (GRCm39)	E200G	probably damaging	Het
Cdh12	A	T	15: 21,492,775 (GRCm39)	N265Y	probably damaging	Het
Cerk	T	A	15: 86,043,343 (GRCm39)	T153S	probably benign	Het
Ect2	A	T	3: 27,181,878 (GRCm39)		probably benign	Het
Ep300	T	A	15: 81,511,467 (GRCm39)		probably benign	Het
Gm26920	T	G	7: 29,767,503 (GRCm39)		probably benign	Het
Ighv1-66	T	C	12: 115,556,929 (GRCm39)	Y51C	probably benign	Het
Ints1	T	C	5: 139,744,253 (GRCm39)	D1503G	probably benign	Het
Lhpp	A	G	7: 132,244,249 (GRCm39)	K189E	probably damaging	Het
Myh13	A	G	11: 67,233,298 (GRCm39)	T606A	probably benign	Het
Naip1	T	C	13: 100,545,681 (GRCm39)		probably null	Het
Nckap5	G	T	1: 126,456,450 (GRCm39)	Q38K	probably damaging	Het
Nlgn3	A	G	X: 100,345,866 (GRCm39)	I93V	probably benign	Het
Nxpe2	A	G	9: 48,231,923 (GRCm39)	F345L	probably benign	Het
Pcdhb22	A	G	18: 37,652,549 (GRCm39)	N339S	probably damaging	Het
Rbbp7	T	A	X: 161,557,577 (GRCm39)	I322N	probably damaging	Het
Rigi	C	A	4: 40,222,176 (GRCm39)	V368F	probably damaging	Het
Scin	A	T	12: 40,174,698 (GRCm39)	H128Q	probably damaging	Het
Sema4g	A	G	19: 44,986,435 (GRCm39)	Y337C	probably damaging	Het
Stx6	C	T	1: 155,077,691 (GRCm39)	R233C	possibly damaging	Het
Supt16	C	T	14: 52,414,489 (GRCm39)	E438K	probably benign	Het
Trem3	G	T	17: 48,556,843 (GRCm39)	V105L	probably benign	Het
Vmn2r108	T	A	17: 20,691,942 (GRCm39)	M194L	probably benign	Het
Zfyve16	A	T	13: 92,658,704 (GRCm39)	D402E	probably benign	Het

Other mutations in Rprd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00766:Rprd2	APN	3	95,672,691 (GRCm39)	missense	possibly damaging	0.95
IGL00773:Rprd2	APN	3	95,672,421 (GRCm39)	missense	probably damaging	1.00
IGL00792:Rprd2	APN	3	95,692,416 (GRCm39)	missense	probably benign	0.05
IGL01022:Rprd2	APN	3	95,671,066 (GRCm39)	nonsense	probably null
IGL01121:Rprd2	APN	3	95,683,862 (GRCm39)	missense	probably damaging	1.00
IGL01299:Rprd2	APN	3	95,683,859 (GRCm39)	missense	probably damaging	1.00
IGL01387:Rprd2	APN	3	95,672,631 (GRCm39)	missense	probably benign
IGL02283:Rprd2	APN	3	95,672,815 (GRCm39)	missense	probably damaging	0.98
IGL02336:Rprd2	APN	3	95,694,622 (GRCm39)	missense	probably benign	0.17
R0131:Rprd2	UTSW	3	95,681,673 (GRCm39)	missense	probably damaging	1.00
R0131:Rprd2	UTSW	3	95,681,673 (GRCm39)	missense	probably damaging	1.00
R0132:Rprd2	UTSW	3	95,681,673 (GRCm39)	missense	probably damaging	1.00
R0574:Rprd2	UTSW	3	95,681,669 (GRCm39)	missense	possibly damaging	0.58
R0718:Rprd2	UTSW	3	95,673,699 (GRCm39)	missense	probably benign	0.30
R0847:Rprd2	UTSW	3	95,672,725 (GRCm39)	missense	probably benign	0.00
R0942:Rprd2	UTSW	3	95,672,730 (GRCm39)	missense	probably damaging	1.00
R0943:Rprd2	UTSW	3	95,691,559 (GRCm39)	missense	possibly damaging	0.88
R0980:Rprd2	UTSW	3	95,673,216 (GRCm39)	missense	probably damaging	1.00
R1448:Rprd2	UTSW	3	95,725,888 (GRCm39)	missense	possibly damaging	0.57
R1542:Rprd2	UTSW	3	95,672,988 (GRCm39)	missense	possibly damaging	0.69
R1577:Rprd2	UTSW	3	95,672,047 (GRCm39)	missense	probably damaging	1.00
R1598:Rprd2	UTSW	3	95,726,051 (GRCm39)	unclassified	probably benign
R1640:Rprd2	UTSW	3	95,671,059 (GRCm39)	unclassified	probably benign
R1670:Rprd2	UTSW	3	95,672,115 (GRCm39)	missense	probably damaging	1.00
R2430:Rprd2	UTSW	3	95,672,107 (GRCm39)	nonsense	probably null
R2966:Rprd2	UTSW	3	95,673,745 (GRCm39)	splice site	probably null
R3612:Rprd2	UTSW	3	95,671,464 (GRCm39)	missense	probably damaging	0.98
R3712:Rprd2	UTSW	3	95,671,872 (GRCm39)	missense	probably damaging	0.97
R3890:Rprd2	UTSW	3	95,672,536 (GRCm39)	missense	probably damaging	1.00
R4777:Rprd2	UTSW	3	95,694,686 (GRCm39)	missense	probably benign	0.41
R4783:Rprd2	UTSW	3	95,681,645 (GRCm39)	missense	probably benign	0.03
R4832:Rprd2	UTSW	3	95,681,483 (GRCm39)	missense	probably damaging	1.00
R4928:Rprd2	UTSW	3	95,671,849 (GRCm39)	missense	probably damaging	1.00
R4976:Rprd2	UTSW	3	95,673,661 (GRCm39)	missense	probably damaging	1.00
R4989:Rprd2	UTSW	3	95,672,632 (GRCm39)	missense	probably benign	0.03
R5134:Rprd2	UTSW	3	95,672,632 (GRCm39)	missense	probably benign	0.03
R5244:Rprd2	UTSW	3	95,697,494 (GRCm39)	missense	possibly damaging	0.80
R5314:Rprd2	UTSW	3	95,671,401 (GRCm39)	missense	possibly damaging	0.53
R5579:Rprd2	UTSW	3	95,692,371 (GRCm39)	missense	probably damaging	1.00
R5954:Rprd2	UTSW	3	95,672,175 (GRCm39)	missense	probably damaging	1.00
R6016:Rprd2	UTSW	3	95,694,685 (GRCm39)	missense	probably damaging	0.97
R6332:Rprd2	UTSW	3	95,687,753 (GRCm39)	missense	probably damaging	0.99
R6403:Rprd2	UTSW	3	95,673,399 (GRCm39)	missense	possibly damaging	0.77
R6415:Rprd2	UTSW	3	95,681,531 (GRCm39)	missense	probably benign	0.00
R7064:Rprd2	UTSW	3	95,672,328 (GRCm39)	missense	probably damaging	1.00
R7313:Rprd2	UTSW	3	95,684,022 (GRCm39)	missense	probably damaging	1.00
R7496:Rprd2	UTSW	3	95,673,087 (GRCm39)	missense	probably damaging	1.00
R7535:Rprd2	UTSW	3	95,683,899 (GRCm39)	missense	probably damaging	0.96
R8716:Rprd2	UTSW	3	95,684,105 (GRCm39)	missense	probably damaging	1.00
R8822:Rprd2	UTSW	3	95,691,613 (GRCm39)	missense	probably damaging	1.00
R8891:Rprd2	UTSW	3	95,671,367 (GRCm39)	missense	possibly damaging	0.85
R8922:Rprd2	UTSW	3	95,687,896 (GRCm39)	missense	probably damaging	0.99
R9030:Rprd2	UTSW	3	95,691,622 (GRCm39)	missense	probably benign	0.15
R9623:Rprd2	UTSW	3	95,679,505 (GRCm39)	missense	probably benign	0.30
RF034:Rprd2	UTSW	3	95,673,632 (GRCm39)	small deletion	probably benign
RF056:Rprd2	UTSW	3	95,673,631 (GRCm39)	small deletion	probably benign

Posted On

2013-11-05