Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00773:Rprd2'

13863

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 #

IGL00773

Quality Score

Status

Chromosome

Chromosomal Location

95667653-95726175 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 95672421 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 994 (F994Y)

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: F994Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000088297
Gene: ENSMUSG00000028106
AA Change: F994Y

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: F910Y

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actc1	T	C	2: 113,878,594 (GRCm39)		probably benign	Het
Aff1	C	T	5: 103,931,943 (GRCm39)	S195F	probably damaging	Het
Atm	G	T	9: 53,433,444 (GRCm39)	H269N	probably benign	Het
Cdc25c	A	T	18: 34,880,294 (GRCm39)	S147T	probably benign	Het
Cdnf	A	G	2: 3,520,392 (GRCm39)	D57G	possibly damaging	Het
Cep170	T	C	1: 176,582,965 (GRCm39)	D1138G	probably damaging	Het
Cfap70	A	G	14: 20,497,602 (GRCm39)	S51P	probably damaging	Het
Csmd3	A	G	15: 47,454,115 (GRCm39)	M3577T	probably damaging	Het
Cyb5rl	C	T	4: 106,941,493 (GRCm39)	A246V	probably benign	Het
Dcaf1	T	A	9: 106,735,532 (GRCm39)	S827T	probably benign	Het
Epha3	T	A	16: 63,387,047 (GRCm39)	Q862L	probably damaging	Het
Gm57858	A	G	3: 36,089,486 (GRCm39)	L146P	probably damaging	Het
Igsf10	A	G	3: 59,238,960 (GRCm39)	V407A	probably benign	Het
Myh2	T	C	11: 67,085,247 (GRCm39)	I1751T	probably benign	Het
Pcm1	T	C	8: 41,727,314 (GRCm39)	L528P	probably damaging	Het
Pla2g7	T	G	17: 43,913,762 (GRCm39)	I235S	probably damaging	Het
Plekhh2	C	T	17: 84,914,296 (GRCm39)	T1233M	probably benign	Het
Ptpn21	C	T	12: 98,654,572 (GRCm39)	M798I	probably benign	Het
Ptprz1	A	G	6: 23,002,628 (GRCm39)	K1573E	probably benign	Het
Rassf6	C	T	5: 90,751,999 (GRCm39)	V272M	probably damaging	Het
Slc13a1	C	T	6: 24,118,016 (GRCm39)	M240I	possibly damaging	Het
Slc22a6	A	T	19: 8,599,232 (GRCm39)	I288F	probably benign	Het
Slc6a3	T	A	13: 73,692,860 (GRCm39)	I160N	probably damaging	Het
Slfn10-ps	T	A	11: 82,926,355 (GRCm39)		noncoding transcript	Het
Snx14	A	T	9: 88,276,592 (GRCm39)	D564E	probably damaging	Het
Tceanc	T	A	X: 165,285,857 (GRCm39)	L179F	probably benign	Het
Tpm2	T	C	4: 43,518,251 (GRCm39)	K251E	probably damaging	Het
Trpm2	T	A	10: 77,785,048 (GRCm39)	R191*	probably null	Het
Trpm3	T	A	19: 22,877,523 (GRCm39)	M602K	possibly damaging	Het
Zbtb21	A	T	16: 97,753,520 (GRCm39)	D282E	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
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
IGL01414:Rprd2	APN	3	95,672,837 (GRCm39)	missense	probably damaging	1.00
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

2012-12-06