Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02832:Rp1'

361479

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rp1

Ensembl Gene

ENSMUSG00000025900

Gene Name

retinitis pigmentosa 1 (human)

Synonyms

Dcdc3, mG145, Orp1, oxygen-regulated protein 1, Rp1h

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

IGL02832

Quality Score

Status

Chromosome

Chromosomal Location

3999557-4409241 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4349713 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 392 (D392G)

Ref Sequence

ENSEMBL: ENSMUSP00000027032 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027032] [ENSMUST00000194992] [ENSMUST00000208660]

AlphaFold

P56716

Predicted Effect

probably benign
Transcript: ENSMUST00000027032
AA Change: D392G

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000027032
Gene: ENSMUSG00000025900
AA Change: D392G

Domain	Start	End	E-Value	Type
DCX	30	117	4.37e-39	SMART
low complexity region	120	133	N/A	INTRINSIC
DCX	152	236	7.17e-35	SMART
low complexity region	343	354	N/A	INTRINSIC
low complexity region	403	414	N/A	INTRINSIC
low complexity region	462	473	N/A	INTRINSIC
low complexity region	646	661	N/A	INTRINSIC
low complexity region	1113	1123	N/A	INTRINSIC
low complexity region	1396	1412	N/A	INTRINSIC
low complexity region	1434	1444	N/A	INTRINSIC
low complexity region	1648	1661	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000194992

SMART Domains

Protein: ENSMUSP00000142146
Gene: ENSMUSG00000025900

Domain	Start	End	E-Value	Type
DCX	40	127	4.37e-39	SMART
low complexity region	130	143	N/A	INTRINSIC
DCX	162	246	7.17e-35	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000208660

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208793

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two doublecortin domains, which bind microtubules and regulate microtubule polymerization. The encoded protein is a photoreceptor microtubule-associated protein and is required for correct stacking of outer segment disc. This protein and the RP1L1 protein, another retinal-specific protein, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptors. Because of its response to in vivo retinal oxygen levels, this protein was initially named ORP1 (oxygen-regulated protein-1). This protein was subsequently designated RP1 (retinitis pigmentosa 1) when it was found that mutations in this gene cause autosomal dominant retinitis pigmentosa. Mutations in this gene also cause autosomal recessive retinitis pigmentosa. Two transcript variants encoding distinct isoforms are resulted from alternative promoters and alternative splicing. [provided by RefSeq, Sep 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene experience progressive degeneration in photoreceptors but are otherwise phenotypically normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	G	A	6: 92,807,175 (GRCm38)	T985M	probably damaging	Het
Alpk1	A	G	3: 127,679,943 (GRCm38)	S804P	possibly damaging	Het
Ap3b1	A	G	13: 94,528,327 (GRCm38)	I925V	unknown	Het
Cep135	T	A	5: 76,640,949 (GRCm38)	S1130T	probably damaging	Het
Cers3	A	T	7: 66,781,825 (GRCm38)	M183L	probably benign	Het
Col5a1	A	G	2: 27,952,340 (GRCm38)	E409G	unknown	Het
Cyp4a32	G	T	4: 115,614,621 (GRCm38)	V410F	probably damaging	Het
Ddx1	G	A	12: 13,227,317 (GRCm38)	Q528*	probably null	Het
Dio2	G	A	12: 90,729,404 (GRCm38)		probably benign	Het
Dnah9	G	T	11: 66,040,346 (GRCm38)	A2008E	probably damaging	Het
Dnajc2	A	G	5: 21,760,410 (GRCm38)	V457A	probably benign	Het
Dytn	T	C	1: 63,643,373 (GRCm38)	T372A	probably benign	Het
Fam135a	T	C	1: 24,028,633 (GRCm38)	I152V	probably benign	Het
Fmnl2	C	T	2: 52,858,249 (GRCm38)	A36V	possibly damaging	Het
Galnt7	G	A	8: 57,552,497 (GRCm38)	T234I	probably damaging	Het
Gba	A	C	3: 89,203,502 (GRCm38)	I6L	probably benign	Het
Gja10	A	G	4: 32,602,147 (GRCm38)	V79A	probably damaging	Het
Gpd2	T	A	2: 57,338,979 (GRCm38)	V265E	probably damaging	Het
Gpld1	T	C	13: 24,952,878 (GRCm38)	Y60H	probably damaging	Het
Heatr9	A	G	11: 83,518,846 (GRCm38)		probably benign	Het
Hist3h2ba	A	G	11: 58,949,043 (GRCm38)	K35R	probably benign	Het
Krt75	T	A	15: 101,568,073 (GRCm38)	D419V	probably benign	Het
Lrig3	A	T	10: 126,007,002 (GRCm38)	I599F	probably benign	Het
Lrp4	A	G	2: 91,511,580 (GRCm38)	D1846G	probably damaging	Het
Mamdc2	C	T	19: 23,303,851 (GRCm38)	A653T	probably damaging	Het
Myo7a	A	T	7: 98,091,020 (GRCm38)		probably null	Het
Notch2	A	G	3: 98,137,373 (GRCm38)	D1537G	probably benign	Het
Olfr370	G	A	8: 83,541,471 (GRCm38)	C109Y	probably damaging	Het
Olfr559	G	T	7: 102,723,651 (GRCm38)	H280N	probably benign	Het
Olfr608	A	T	7: 103,470,698 (GRCm38)	I220L	probably benign	Het
Papss1	A	C	3: 131,582,519 (GRCm38)	D84A	probably damaging	Het
Pcdhb16	T	A	18: 37,478,474 (GRCm38)	D162E	probably damaging	Het
Rab11fip1	C	T	8: 27,152,812 (GRCm38)	R653Q	possibly damaging	Het
Rap1gap2	A	T	11: 74,412,455 (GRCm38)		probably benign	Het
Rasal2	T	C	1: 157,157,207 (GRCm38)	D990G	probably damaging	Het
Rnf32	T	C	5: 29,205,703 (GRCm38)		probably null	Het
Scn9a	T	C	2: 66,568,029 (GRCm38)	D79G	probably damaging	Het
Selenon	A	T	4: 134,540,908 (GRCm38)	V438D	probably damaging	Het
Slc47a1	G	A	11: 61,363,413 (GRCm38)	H158Y	probably benign	Het
Slc5a12	A	T	2: 110,640,815 (GRCm38)	E463D	probably benign	Het
Taf2	C	T	15: 55,016,563 (GRCm38)	V1126M	probably benign	Het
Tas2r143	G	T	6: 42,400,325 (GRCm38)	V30L	possibly damaging	Het
Tcea3	G	A	4: 136,268,113 (GRCm38)	V256M	probably damaging	Het
Thy1	A	G	9: 44,046,814 (GRCm38)	T80A	probably benign	Het
Tmem9	A	G	1: 136,019,731 (GRCm38)	N47S	probably damaging	Het
Tmprss11g	T	C	5: 86,497,269 (GRCm38)	Q101R	probably benign	Het
Trim66	C	T	7: 109,460,497 (GRCm38)	C792Y	probably damaging	Het
Tstd2	A	T	4: 46,124,949 (GRCm38)	M226K	probably damaging	Het
Utrn	G	T	10: 12,738,193 (GRCm38)	T378K	possibly damaging	Het
Vmn2r23	A	G	6: 123,704,396 (GRCm38)	I88V	probably benign	Het

Other mutations in Rp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00323:Rp1	APN	1	4,346,746 (GRCm38)	missense	probably damaging	0.98
IGL00593:Rp1	APN	1	4,345,403 (GRCm38)	missense	possibly damaging	0.70
IGL00956:Rp1	APN	1	4,352,212 (GRCm38)	missense	probably damaging	1.00
IGL01070:Rp1	APN	1	4,345,238 (GRCm38)	missense	probably damaging	1.00
IGL01531:Rp1	APN	1	4,348,945 (GRCm38)	missense	probably benign	0.00
IGL01668:Rp1	APN	1	4,345,718 (GRCm38)	missense	probably damaging	1.00
IGL01907:Rp1	APN	1	4,348,507 (GRCm38)	missense	possibly damaging	0.56
IGL02055:Rp1	APN	1	4,352,522 (GRCm38)	missense	probably damaging	1.00
IGL02071:Rp1	APN	1	4,345,310 (GRCm38)	missense	possibly damaging	0.46
IGL02128:Rp1	APN	1	4,347,385 (GRCm38)	missense	probably damaging	0.99
IGL02244:Rp1	APN	1	4,348,780 (GRCm38)	missense	probably benign	0.00
IGL02381:Rp1	APN	1	4,352,390 (GRCm38)	missense	probably benign	0.01
IGL02499:Rp1	APN	1	4,349,048 (GRCm38)	missense	probably benign	0.17
IGL02619:Rp1	APN	1	4,348,450 (GRCm38)	missense	possibly damaging	0.73
IGL02861:Rp1	APN	1	4,346,152 (GRCm38)	nonsense	probably null
IGL03288:Rp1	APN	1	4,349,524 (GRCm38)	missense	possibly damaging	0.88
IGL03290:Rp1	APN	1	4,350,041 (GRCm38)	missense	probably damaging	1.00
IGL03303:Rp1	APN	1	4,344,817 (GRCm38)	missense	probably damaging	1.00
R0041:Rp1	UTSW	1	4,344,628 (GRCm38)	missense	probably benign	0.36
R0111:Rp1	UTSW	1	4,344,760 (GRCm38)	missense	probably damaging	1.00
R0363:Rp1	UTSW	1	4,347,718 (GRCm38)	missense	probably damaging	1.00
R0440:Rp1	UTSW	1	4,345,640 (GRCm38)	missense	probably damaging	1.00
R0442:Rp1	UTSW	1	4,346,747 (GRCm38)	missense	probably benign	0.09
R0528:Rp1	UTSW	1	4,344,865 (GRCm38)	missense	possibly damaging	0.82
R0586:Rp1	UTSW	1	4,347,837 (GRCm38)	missense	possibly damaging	0.76
R0639:Rp1	UTSW	1	4,346,498 (GRCm38)	missense	probably benign	0.00
R0856:Rp1	UTSW	1	4,344,655 (GRCm38)	missense	probably benign	0.05
R0908:Rp1	UTSW	1	4,344,655 (GRCm38)	missense	probably benign	0.05
R0968:Rp1	UTSW	1	4,345,352 (GRCm38)	missense	probably benign	0.00
R1099:Rp1	UTSW	1	4,352,290 (GRCm38)	missense	possibly damaging	0.45
R1242:Rp1	UTSW	1	4,344,962 (GRCm38)	missense	probably benign	0.03
R1301:Rp1	UTSW	1	4,345,936 (GRCm38)	missense	possibly damaging	0.56
R1327:Rp1	UTSW	1	4,347,970 (GRCm38)	missense	probably benign	0.01
R1403:Rp1	UTSW	1	4,346,297 (GRCm38)	missense	possibly damaging	0.73
R1403:Rp1	UTSW	1	4,346,297 (GRCm38)	missense	possibly damaging	0.73
R1406:Rp1	UTSW	1	4,351,921 (GRCm38)	missense	possibly damaging	0.88
R1406:Rp1	UTSW	1	4,351,921 (GRCm38)	missense	possibly damaging	0.88
R1440:Rp1	UTSW	1	4,347,396 (GRCm38)	missense	probably damaging	1.00
R1509:Rp1	UTSW	1	4,347,694 (GRCm38)	missense	probably damaging	0.98
R1509:Rp1	UTSW	1	4,348,537 (GRCm38)	missense	probably benign	0.20
R1538:Rp1	UTSW	1	4,345,676 (GRCm38)	missense	probably damaging	1.00
R1609:Rp1	UTSW	1	4,349,201 (GRCm38)	missense	probably damaging	1.00
R1666:Rp1	UTSW	1	4,349,863 (GRCm38)	missense	probably damaging	1.00
R1703:Rp1	UTSW	1	4,345,169 (GRCm38)	missense	probably damaging	1.00
R1782:Rp1	UTSW	1	4,349,089 (GRCm38)	missense	probably benign	0.00
R1799:Rp1	UTSW	1	4,348,832 (GRCm38)	missense	possibly damaging	0.94
R1848:Rp1	UTSW	1	4,347,232 (GRCm38)	missense	possibly damaging	0.76
R1908:Rp1	UTSW	1	4,348,720 (GRCm38)	missense	probably damaging	0.99
R1919:Rp1	UTSW	1	4,352,671 (GRCm38)	missense	probably damaging	0.99
R2087:Rp1	UTSW	1	4,348,352 (GRCm38)	missense	probably damaging	1.00
R2211:Rp1	UTSW	1	4,348,139 (GRCm38)	missense	probably damaging	0.96
R2278:Rp1	UTSW	1	4,348,027 (GRCm38)	missense	possibly damaging	0.51
R2287:Rp1	UTSW	1	4,345,959 (GRCm38)	nonsense	probably null
R2316:Rp1	UTSW	1	4,345,640 (GRCm38)	missense	probably damaging	1.00
R2346:Rp1	UTSW	1	4,348,013 (GRCm38)	missense	probably damaging	1.00
R2878:Rp1	UTSW	1	4,348,139 (GRCm38)	missense	probably damaging	1.00
R3023:Rp1	UTSW	1	4,352,675 (GRCm38)	missense	probably damaging	1.00
R3025:Rp1	UTSW	1	4,352,675 (GRCm38)	missense	probably damaging	1.00
R3716:Rp1	UTSW	1	4,349,765 (GRCm38)	missense	probably benign	0.38
R3814:Rp1	UTSW	1	4,349,708 (GRCm38)	missense	probably benign
R3929:Rp1	UTSW	1	4,352,645 (GRCm38)	missense	probably damaging	1.00
R4064:Rp1	UTSW	1	4,345,400 (GRCm38)	missense	probably benign	0.08
R4426:Rp1	UTSW	1	4,347,924 (GRCm38)	missense	probably benign	0.13
R4557:Rp1	UTSW	1	4,344,663 (GRCm38)	missense	possibly damaging	0.61
R4764:Rp1	UTSW	1	4,345,878 (GRCm38)	missense	probably damaging	0.96
R4845:Rp1	UTSW	1	4,349,228 (GRCm38)	missense	probably benign	0.02
R4850:Rp1	UTSW	1	4,348,675 (GRCm38)	missense	probably damaging	1.00
R4857:Rp1	UTSW	1	4,352,317 (GRCm38)	missense	probably damaging	1.00
R4857:Rp1	UTSW	1	4,352,316 (GRCm38)	missense	probably damaging	0.99
R5159:Rp1	UTSW	1	4,346,203 (GRCm38)	missense	possibly damaging	0.73
R5226:Rp1	UTSW	1	4,348,033 (GRCm38)	missense	probably benign	0.01
R5327:Rp1	UTSW	1	4,349,360 (GRCm38)	splice site	probably null
R5352:Rp1	UTSW	1	4,347,098 (GRCm38)	missense	probably benign	0.00
R5504:Rp1	UTSW	1	4,349,890 (GRCm38)	missense	probably damaging	1.00
R5527:Rp1	UTSW	1	4,346,393 (GRCm38)	missense	possibly damaging	0.75
R5529:Rp1	UTSW	1	4,345,832 (GRCm38)	missense	probably benign	0.42
R5569:Rp1	UTSW	1	4,345,237 (GRCm38)	missense	probably damaging	1.00
R5622:Rp1	UTSW	1	4,347,837 (GRCm38)	missense	possibly damaging	0.76
R5970:Rp1	UTSW	1	4,348,462 (GRCm38)	missense	probably benign	0.05
R5992:Rp1	UTSW	1	4,148,703 (GRCm38)	missense	unknown
R6004:Rp1	UTSW	1	4,197,585 (GRCm38)	missense	unknown
R6018:Rp1	UTSW	1	4,352,836 (GRCm38)	missense	possibly damaging	0.83
R6074:Rp1	UTSW	1	4,345,379 (GRCm38)	missense	probably benign	0.02
R6127:Rp1	UTSW	1	4,349,311 (GRCm38)	missense	possibly damaging	0.80
R6187:Rp1	UTSW	1	4,349,869 (GRCm38)	missense	probably damaging	1.00
R6301:Rp1	UTSW	1	4,347,254 (GRCm38)	missense	probably benign	0.04
R6317:Rp1	UTSW	1	4,041,989 (GRCm38)	missense	unknown
R6405:Rp1	UTSW	1	4,345,771 (GRCm38)	missense	probably damaging	1.00
R6445:Rp1	UTSW	1	4,226,617 (GRCm38)	missense	unknown
R6466:Rp1	UTSW	1	4,347,886 (GRCm38)	missense	probably benign	0.01
R6501:Rp1	UTSW	1	4,311,280 (GRCm38)	intron	probably benign
R6547:Rp1	UTSW	1	4,170,305 (GRCm38)	missense	unknown
R6604:Rp1	UTSW	1	4,019,128 (GRCm38)	missense	unknown
R6700:Rp1	UTSW	1	4,349,896 (GRCm38)	missense	probably damaging	1.00
R6706:Rp1	UTSW	1	4,142,664 (GRCm38)	missense	unknown
R6831:Rp1	UTSW	1	4,349,864 (GRCm38)	splice site	probably null
R6918:Rp1	UTSW	1	3,999,608 (GRCm38)	missense	unknown
R6973:Rp1	UTSW	1	4,351,994 (GRCm38)	nonsense	probably null
R6981:Rp1	UTSW	1	4,345,655 (GRCm38)	missense	probably benign	0.06
R7009:Rp1	UTSW	1	4,042,068 (GRCm38)	missense	unknown
R7078:Rp1	UTSW	1	4,206,791 (GRCm38)	missense	unknown
R7112:Rp1	UTSW	1	4,349,018 (GRCm38)	missense	probably benign	0.43
R7135:Rp1	UTSW	1	4,348,168 (GRCm38)	missense	possibly damaging	0.83
R7165:Rp1	UTSW	1	4,349,917 (GRCm38)	missense	probably damaging	0.99
R7199:Rp1	UTSW	1	4,347,290 (GRCm38)	missense	possibly damaging	0.73
R7232:Rp1	UTSW	1	4,228,601 (GRCm38)	missense	unknown
R7367:Rp1	UTSW	1	4,347,998 (GRCm38)	missense	probably benign	0.42
R7484:Rp1	UTSW	1	4,345,481 (GRCm38)	missense	probably benign	0.10
R7500:Rp1	UTSW	1	4,311,278 (GRCm38)	missense	unknown
R7569:Rp1	UTSW	1	4,284,840 (GRCm38)	missense	unknown
R7642:Rp1	UTSW	1	4,147,831 (GRCm38)	missense	unknown
R7693:Rp1	UTSW	1	4,347,403 (GRCm38)	missense	probably damaging	1.00
R7742:Rp1	UTSW	1	4,170,234 (GRCm38)	missense	unknown
R7759:Rp1	UTSW	1	4,344,884 (GRCm38)	missense	probably benign
R7784:Rp1	UTSW	1	4,142,658 (GRCm38)	missense	unknown
R7816:Rp1	UTSW	1	4,347,703 (GRCm38)	missense	probably damaging	0.98
R7866:Rp1	UTSW	1	4,347,701 (GRCm38)	missense	probably benign	0.02
R8215:Rp1	UTSW	1	4,245,095 (GRCm38)	missense	unknown
R8281:Rp1	UTSW	1	4,347,916 (GRCm38)	missense	probably damaging	1.00
R8294:Rp1	UTSW	1	4,345,997 (GRCm38)	missense	probably benign	0.09
R8309:Rp1	UTSW	1	4,347,089 (GRCm38)	missense	probably benign	0.00
R8311:Rp1	UTSW	1	4,348,349 (GRCm38)	missense	probably benign	0.11
R8500:Rp1	UTSW	1	4,346,590 (GRCm38)	missense	possibly damaging	0.91
R8559:Rp1	UTSW	1	4,349,561 (GRCm38)	missense	probably damaging	1.00
R8672:Rp1	UTSW	1	4,348,784 (GRCm38)	missense	possibly damaging	0.55
R8688:Rp1	UTSW	1	4,346,405 (GRCm38)	missense	probably benign	0.01
R8792:Rp1	UTSW	1	4,024,868 (GRCm38)	missense	unknown
R8859:Rp1	UTSW	1	4,349,960 (GRCm38)	missense	probably benign	0.07
R8945:Rp1	UTSW	1	4,349,594 (GRCm38)	missense	probably benign	0.42
R8959:Rp1	UTSW	1	4,349,427 (GRCm38)	intron	probably benign
R8979:Rp1	UTSW	1	4,148,714 (GRCm38)	missense	unknown
R9126:Rp1	UTSW	1	4,346,913 (GRCm38)	missense	probably damaging	0.99
R9156:Rp1	UTSW	1	4,163,938 (GRCm38)	missense	unknown
R9160:Rp1	UTSW	1	4,346,497 (GRCm38)	missense	probably benign	0.00
R9221:Rp1	UTSW	1	4,245,043 (GRCm38)	missense	unknown
R9263:Rp1	UTSW	1	4,348,937 (GRCm38)	missense	probably benign	0.02
R9263:Rp1	UTSW	1	4,348,452 (GRCm38)	missense	probably benign	0.25
R9302:Rp1	UTSW	1	4,346,566 (GRCm38)	missense	probably damaging	1.00
R9318:Rp1	UTSW	1	4,348,265 (GRCm38)	missense	probably benign	0.09
R9414:Rp1	UTSW	1	4,243,618 (GRCm38)	missense	unknown
R9474:Rp1	UTSW	1	4,092,615 (GRCm38)	critical splice donor site	probably null
R9478:Rp1	UTSW	1	4,347,322 (GRCm38)	missense	probably benign	0.06
R9529:Rp1	UTSW	1	4,346,224 (GRCm38)	missense	probably benign
R9572:Rp1	UTSW	1	4,348,439 (GRCm38)	missense	probably benign
R9673:Rp1	UTSW	1	4,267,569 (GRCm38)	missense	unknown
R9709:Rp1	UTSW	1	4,042,032 (GRCm38)	missense	unknown
R9716:Rp1	UTSW	1	4,142,610 (GRCm38)	critical splice donor site	probably null
RF003:Rp1	UTSW	1	4,344,694 (GRCm38)	missense	probably damaging	0.99
V1662:Rp1	UTSW	1	4,349,560 (GRCm38)	missense	probably damaging	1.00
X0012:Rp1	UTSW	1	4,347,695 (GRCm38)	missense	probably damaging	0.96

Posted On

2015-12-18