Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00323:Rp1'

13855

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rp1

Ensembl Gene

ENSMUSG00000025900

Gene Name

retinitis pigmentosa 1 (human)

Synonyms

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

IGL00323

Quality Score

Status

Chromosome

Chromosomal Location

4185896-4479508 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 4416969 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 1381 (D1381V)

Ref Sequence

ENSEMBL: ENSMUSP00000027032 (fasta)

Gene Model

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

AlphaFold

P56716

Predicted Effect

probably damaging
Transcript: ENSMUST00000027032
AA Change: D1381V

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000027032
Gene: ENSMUSG00000025900
AA Change: D1381V

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap5m1	T	C	14: 49,311,247 (GRCm39)	Y106H	probably damaging	Het
Atrnl1	C	A	19: 57,680,249 (GRCm39)	N716K	probably benign	Het
Ccnq	A	G	11: 78,641,782 (GRCm39)	V236A	probably benign	Het
Cdk13	A	T	13: 17,895,683 (GRCm39)	N1075K	possibly damaging	Het
Daam1	G	A	12: 72,005,517 (GRCm39)		probably benign	Het
Exd2	T	C	12: 80,522,940 (GRCm39)	V133A	probably damaging	Het
Glrb	T	C	3: 80,769,262 (GRCm39)	D155G	probably damaging	Het
Gm13941	T	A	2: 110,935,198 (GRCm39)	M11L	unknown	Het
Gm4553	T	C	7: 141,718,964 (GRCm39)	S155G	unknown	Het
Inpp5d	G	T	1: 87,611,537 (GRCm39)	V329F	probably benign	Het
Lilrb4b	A	T	10: 51,357,347 (GRCm39)	D61V	probably benign	Het
Malt1	T	A	18: 65,582,034 (GRCm39)	C299*	probably null	Het
Or10j27	G	A	1: 172,957,978 (GRCm39)	Q269*	probably null	Het
Or4f14	A	T	2: 111,742,381 (GRCm39)	M298K	possibly damaging	Het
Pigk	C	A	3: 152,453,269 (GRCm39)	S282*	probably null	Het
Pik3r1	T	A	13: 101,827,044 (GRCm39)	M1L	probably benign	Het
Pnpla1	A	G	17: 29,096,416 (GRCm39)	Y165C	probably damaging	Het
Rfx7	A	G	9: 72,524,702 (GRCm39)	N631D	probably damaging	Het
Rrp8	T	C	7: 105,382,223 (GRCm39)		probably benign	Het
Scn4a	A	T	11: 106,210,745 (GRCm39)	D1757E	probably benign	Het
Sec62	T	C	3: 30,864,591 (GRCm39)		probably benign	Het
Smarca5	G	A	8: 81,440,670 (GRCm39)	T598M	probably benign	Het
Sptbn5	T	C	2: 119,884,948 (GRCm39)		probably benign	Het
Srcap	T	C	7: 127,141,885 (GRCm39)		probably benign	Het
Stab1	T	A	14: 30,861,263 (GRCm39)	E71D	probably benign	Het
Trhde	A	T	10: 114,322,652 (GRCm39)	S716R	possibly damaging	Het
Ttn	T	C	2: 76,726,859 (GRCm39)		probably benign	Het
Wscd2	A	C	5: 113,689,236 (GRCm39)	T81P	possibly damaging	Het
Zfp335	G	A	2: 164,734,302 (GRCm39)	T1295I	probably damaging	Het

Other mutations in Rp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00593:Rp1	APN	1	4,415,626 (GRCm39)	missense	possibly damaging	0.70
IGL00956:Rp1	APN	1	4,422,435 (GRCm39)	missense	probably damaging	1.00
IGL01070:Rp1	APN	1	4,415,461 (GRCm39)	missense	probably damaging	1.00
IGL01531:Rp1	APN	1	4,419,168 (GRCm39)	missense	probably benign	0.00
IGL01668:Rp1	APN	1	4,415,941 (GRCm39)	missense	probably damaging	1.00
IGL01907:Rp1	APN	1	4,418,730 (GRCm39)	missense	possibly damaging	0.56
IGL02055:Rp1	APN	1	4,422,745 (GRCm39)	missense	probably damaging	1.00
IGL02071:Rp1	APN	1	4,415,533 (GRCm39)	missense	possibly damaging	0.46
IGL02128:Rp1	APN	1	4,417,608 (GRCm39)	missense	probably damaging	0.99
IGL02244:Rp1	APN	1	4,419,003 (GRCm39)	missense	probably benign	0.00
IGL02381:Rp1	APN	1	4,422,613 (GRCm39)	missense	probably benign	0.01
IGL02499:Rp1	APN	1	4,419,271 (GRCm39)	missense	probably benign	0.17
IGL02619:Rp1	APN	1	4,418,673 (GRCm39)	missense	possibly damaging	0.73
IGL02832:Rp1	APN	1	4,419,936 (GRCm39)	missense	probably benign	0.03
IGL02861:Rp1	APN	1	4,416,375 (GRCm39)	nonsense	probably null
IGL03288:Rp1	APN	1	4,419,747 (GRCm39)	missense	possibly damaging	0.88
IGL03290:Rp1	APN	1	4,420,264 (GRCm39)	missense	probably damaging	1.00
IGL03303:Rp1	APN	1	4,415,040 (GRCm39)	missense	probably damaging	1.00
R0041:Rp1	UTSW	1	4,414,851 (GRCm39)	missense	probably benign	0.36
R0111:Rp1	UTSW	1	4,414,983 (GRCm39)	missense	probably damaging	1.00
R0363:Rp1	UTSW	1	4,417,941 (GRCm39)	missense	probably damaging	1.00
R0440:Rp1	UTSW	1	4,415,863 (GRCm39)	missense	probably damaging	1.00
R0442:Rp1	UTSW	1	4,416,970 (GRCm39)	missense	probably benign	0.09
R0528:Rp1	UTSW	1	4,415,088 (GRCm39)	missense	possibly damaging	0.82
R0586:Rp1	UTSW	1	4,418,060 (GRCm39)	missense	possibly damaging	0.76
R0639:Rp1	UTSW	1	4,416,721 (GRCm39)	missense	probably benign	0.00
R0856:Rp1	UTSW	1	4,414,878 (GRCm39)	missense	probably benign	0.05
R0908:Rp1	UTSW	1	4,414,878 (GRCm39)	missense	probably benign	0.05
R0968:Rp1	UTSW	1	4,415,575 (GRCm39)	missense	probably benign	0.00
R1099:Rp1	UTSW	1	4,422,513 (GRCm39)	missense	possibly damaging	0.45
R1242:Rp1	UTSW	1	4,415,185 (GRCm39)	missense	probably benign	0.03
R1301:Rp1	UTSW	1	4,416,159 (GRCm39)	missense	possibly damaging	0.56
R1327:Rp1	UTSW	1	4,418,193 (GRCm39)	missense	probably benign	0.01
R1403:Rp1	UTSW	1	4,416,520 (GRCm39)	missense	possibly damaging	0.73
R1403:Rp1	UTSW	1	4,416,520 (GRCm39)	missense	possibly damaging	0.73
R1406:Rp1	UTSW	1	4,422,144 (GRCm39)	missense	possibly damaging	0.88
R1406:Rp1	UTSW	1	4,422,144 (GRCm39)	missense	possibly damaging	0.88
R1440:Rp1	UTSW	1	4,417,619 (GRCm39)	missense	probably damaging	1.00
R1509:Rp1	UTSW	1	4,417,917 (GRCm39)	missense	probably damaging	0.98
R1509:Rp1	UTSW	1	4,418,760 (GRCm39)	missense	probably benign	0.20
R1538:Rp1	UTSW	1	4,415,899 (GRCm39)	missense	probably damaging	1.00
R1609:Rp1	UTSW	1	4,419,424 (GRCm39)	missense	probably damaging	1.00
R1666:Rp1	UTSW	1	4,420,086 (GRCm39)	missense	probably damaging	1.00
R1703:Rp1	UTSW	1	4,415,392 (GRCm39)	missense	probably damaging	1.00
R1782:Rp1	UTSW	1	4,419,312 (GRCm39)	missense	probably benign	0.00
R1799:Rp1	UTSW	1	4,419,055 (GRCm39)	missense	possibly damaging	0.94
R1848:Rp1	UTSW	1	4,417,455 (GRCm39)	missense	possibly damaging	0.76
R1908:Rp1	UTSW	1	4,418,943 (GRCm39)	missense	probably damaging	0.99
R1919:Rp1	UTSW	1	4,422,894 (GRCm39)	missense	probably damaging	0.99
R2087:Rp1	UTSW	1	4,418,575 (GRCm39)	missense	probably damaging	1.00
R2211:Rp1	UTSW	1	4,418,362 (GRCm39)	missense	probably damaging	0.96
R2278:Rp1	UTSW	1	4,418,250 (GRCm39)	missense	possibly damaging	0.51
R2287:Rp1	UTSW	1	4,416,182 (GRCm39)	nonsense	probably null
R2316:Rp1	UTSW	1	4,415,863 (GRCm39)	missense	probably damaging	1.00
R2346:Rp1	UTSW	1	4,418,236 (GRCm39)	missense	probably damaging	1.00
R2878:Rp1	UTSW	1	4,418,362 (GRCm39)	missense	probably damaging	1.00
R3023:Rp1	UTSW	1	4,422,898 (GRCm39)	missense	probably damaging	1.00
R3025:Rp1	UTSW	1	4,422,898 (GRCm39)	missense	probably damaging	1.00
R3716:Rp1	UTSW	1	4,419,988 (GRCm39)	missense	probably benign	0.38
R3814:Rp1	UTSW	1	4,419,931 (GRCm39)	missense	probably benign
R3929:Rp1	UTSW	1	4,422,868 (GRCm39)	missense	probably damaging	1.00
R4064:Rp1	UTSW	1	4,415,623 (GRCm39)	missense	probably benign	0.08
R4426:Rp1	UTSW	1	4,418,147 (GRCm39)	missense	probably benign	0.13
R4557:Rp1	UTSW	1	4,414,886 (GRCm39)	missense	possibly damaging	0.61
R4764:Rp1	UTSW	1	4,416,101 (GRCm39)	missense	probably damaging	0.96
R4845:Rp1	UTSW	1	4,419,451 (GRCm39)	missense	probably benign	0.02
R4850:Rp1	UTSW	1	4,418,898 (GRCm39)	missense	probably damaging	1.00
R4857:Rp1	UTSW	1	4,422,540 (GRCm39)	missense	probably damaging	1.00
R4857:Rp1	UTSW	1	4,422,539 (GRCm39)	missense	probably damaging	0.99
R5159:Rp1	UTSW	1	4,416,426 (GRCm39)	missense	possibly damaging	0.73
R5226:Rp1	UTSW	1	4,418,256 (GRCm39)	missense	probably benign	0.01
R5327:Rp1	UTSW	1	4,419,583 (GRCm39)	splice site	probably null
R5352:Rp1	UTSW	1	4,417,321 (GRCm39)	missense	probably benign	0.00
R5504:Rp1	UTSW	1	4,420,113 (GRCm39)	missense	probably damaging	1.00
R5527:Rp1	UTSW	1	4,416,616 (GRCm39)	missense	possibly damaging	0.75
R5529:Rp1	UTSW	1	4,416,055 (GRCm39)	missense	probably benign	0.42
R5569:Rp1	UTSW	1	4,415,460 (GRCm39)	missense	probably damaging	1.00
R5622:Rp1	UTSW	1	4,418,060 (GRCm39)	missense	possibly damaging	0.76
R5970:Rp1	UTSW	1	4,418,685 (GRCm39)	missense	probably benign	0.05
R5992:Rp1	UTSW	1	4,218,926 (GRCm39)	missense	unknown
R6004:Rp1	UTSW	1	4,267,808 (GRCm39)	missense	unknown
R6018:Rp1	UTSW	1	4,423,059 (GRCm39)	missense	possibly damaging	0.83
R6074:Rp1	UTSW	1	4,415,602 (GRCm39)	missense	probably benign	0.02
R6127:Rp1	UTSW	1	4,419,534 (GRCm39)	missense	possibly damaging	0.80
R6187:Rp1	UTSW	1	4,420,092 (GRCm39)	missense	probably damaging	1.00
R6301:Rp1	UTSW	1	4,417,477 (GRCm39)	missense	probably benign	0.04
R6317:Rp1	UTSW	1	4,112,212 (GRCm39)	missense	unknown
R6405:Rp1	UTSW	1	4,415,994 (GRCm39)	missense	probably damaging	1.00
R6445:Rp1	UTSW	1	4,296,840 (GRCm39)	missense	unknown
R6466:Rp1	UTSW	1	4,418,109 (GRCm39)	missense	probably benign	0.01
R6501:Rp1	UTSW	1	4,381,503 (GRCm39)	intron	probably benign
R6547:Rp1	UTSW	1	4,240,528 (GRCm39)	missense	unknown
R6604:Rp1	UTSW	1	4,089,351 (GRCm39)	missense	unknown
R6700:Rp1	UTSW	1	4,420,119 (GRCm39)	missense	probably damaging	1.00
R6706:Rp1	UTSW	1	4,212,887 (GRCm39)	missense	unknown
R6831:Rp1	UTSW	1	4,420,087 (GRCm39)	splice site	probably null
R6918:Rp1	UTSW	1	4,069,831 (GRCm39)	missense	unknown
R6973:Rp1	UTSW	1	4,422,217 (GRCm39)	nonsense	probably null
R6981:Rp1	UTSW	1	4,415,878 (GRCm39)	missense	probably benign	0.06
R7009:Rp1	UTSW	1	4,112,291 (GRCm39)	missense	unknown
R7078:Rp1	UTSW	1	4,277,014 (GRCm39)	missense	unknown
R7112:Rp1	UTSW	1	4,419,241 (GRCm39)	missense	probably benign	0.43
R7135:Rp1	UTSW	1	4,418,391 (GRCm39)	missense	possibly damaging	0.83
R7165:Rp1	UTSW	1	4,420,140 (GRCm39)	missense	probably damaging	0.99
R7199:Rp1	UTSW	1	4,417,513 (GRCm39)	missense	possibly damaging	0.73
R7232:Rp1	UTSW	1	4,298,824 (GRCm39)	missense	unknown
R7367:Rp1	UTSW	1	4,418,221 (GRCm39)	missense	probably benign	0.42
R7484:Rp1	UTSW	1	4,415,704 (GRCm39)	missense	probably benign	0.10
R7500:Rp1	UTSW	1	4,381,501 (GRCm39)	missense	unknown
R7569:Rp1	UTSW	1	4,355,063 (GRCm39)	missense	unknown
R7642:Rp1	UTSW	1	4,218,054 (GRCm39)	missense	unknown
R7693:Rp1	UTSW	1	4,417,626 (GRCm39)	missense	probably damaging	1.00
R7742:Rp1	UTSW	1	4,240,457 (GRCm39)	missense	unknown
R7759:Rp1	UTSW	1	4,415,107 (GRCm39)	missense	probably benign
R7784:Rp1	UTSW	1	4,212,881 (GRCm39)	missense	unknown
R7816:Rp1	UTSW	1	4,417,926 (GRCm39)	missense	probably damaging	0.98
R7866:Rp1	UTSW	1	4,417,924 (GRCm39)	missense	probably benign	0.02
R8215:Rp1	UTSW	1	4,315,318 (GRCm39)	missense	unknown
R8281:Rp1	UTSW	1	4,418,139 (GRCm39)	missense	probably damaging	1.00
R8294:Rp1	UTSW	1	4,416,220 (GRCm39)	missense	probably benign	0.09
R8309:Rp1	UTSW	1	4,417,312 (GRCm39)	missense	probably benign	0.00
R8311:Rp1	UTSW	1	4,418,572 (GRCm39)	missense	probably benign	0.11
R8500:Rp1	UTSW	1	4,416,813 (GRCm39)	missense	possibly damaging	0.91
R8559:Rp1	UTSW	1	4,419,784 (GRCm39)	missense	probably damaging	1.00
R8672:Rp1	UTSW	1	4,419,007 (GRCm39)	missense	possibly damaging	0.55
R8688:Rp1	UTSW	1	4,416,628 (GRCm39)	missense	probably benign	0.01
R8792:Rp1	UTSW	1	4,095,091 (GRCm39)	missense	unknown
R8859:Rp1	UTSW	1	4,420,183 (GRCm39)	missense	probably benign	0.07
R8945:Rp1	UTSW	1	4,419,817 (GRCm39)	missense	probably benign	0.42
R8959:Rp1	UTSW	1	4,419,650 (GRCm39)	intron	probably benign
R8979:Rp1	UTSW	1	4,218,937 (GRCm39)	missense	unknown
R9126:Rp1	UTSW	1	4,417,136 (GRCm39)	missense	probably damaging	0.99
R9156:Rp1	UTSW	1	4,234,161 (GRCm39)	missense	unknown
R9160:Rp1	UTSW	1	4,416,720 (GRCm39)	missense	probably benign	0.00
R9221:Rp1	UTSW	1	4,315,266 (GRCm39)	missense	unknown
R9263:Rp1	UTSW	1	4,419,160 (GRCm39)	missense	probably benign	0.02
R9263:Rp1	UTSW	1	4,418,675 (GRCm39)	missense	probably benign	0.25
R9302:Rp1	UTSW	1	4,416,789 (GRCm39)	missense	probably damaging	1.00
R9318:Rp1	UTSW	1	4,418,488 (GRCm39)	missense	probably benign	0.09
R9414:Rp1	UTSW	1	4,313,841 (GRCm39)	missense	unknown
R9474:Rp1	UTSW	1	4,162,838 (GRCm39)	critical splice donor site	probably null
R9478:Rp1	UTSW	1	4,417,545 (GRCm39)	missense	probably benign	0.06
R9529:Rp1	UTSW	1	4,416,447 (GRCm39)	missense	probably benign
R9572:Rp1	UTSW	1	4,418,662 (GRCm39)	missense	probably benign
R9673:Rp1	UTSW	1	4,337,792 (GRCm39)	missense	unknown
R9709:Rp1	UTSW	1	4,112,255 (GRCm39)	missense	unknown
R9716:Rp1	UTSW	1	4,212,833 (GRCm39)	critical splice donor site	probably null
RF003:Rp1	UTSW	1	4,414,917 (GRCm39)	missense	probably damaging	0.99
V1662:Rp1	UTSW	1	4,419,783 (GRCm39)	missense	probably damaging	1.00
X0012:Rp1	UTSW	1	4,417,918 (GRCm39)	missense	probably damaging	0.96

Posted On

2012-12-06