Mutagenetix > Incidental Mutation

Incidental Mutation 'R6317:Rp1'

510006

Institutional Source

Beutler Lab

Gene Symbol

Rp1

Ensembl Gene

ENSMUSG00000025900

Gene Name

retinitis pigmentosa 1 (human)

Synonyms

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

MMRRC Submission

044417-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R6317 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4185896-4479508 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4112212 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1213 (L1213P)

Ref Sequence

ENSEMBL: ENSMUSP00000146439 (fasta)

Gene Model

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

AlphaFold

P56716

Predicted Effect

unknown
Transcript: ENSMUST00000208660
AA Change: L1213P

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

100% (62/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	T	C	18: 70,601,264 (GRCm39)	N206S	probably damaging	Het
Abcf2	A	T	5: 24,774,156 (GRCm39)	Y315*	probably null	Het
Adck1	T	G	12: 88,368,921 (GRCm39)	V133G	probably damaging	Het
Aoc2	T	C	11: 101,216,292 (GRCm39)	F125S	probably damaging	Het
As3mt	A	G	19: 46,713,410 (GRCm39)	D319G	probably benign	Het
Atp1a2	C	G	1: 172,116,903 (GRCm39)	R238P	probably damaging	Het
Baz1a	T	C	12: 55,001,585 (GRCm39)	Q145R	possibly damaging	Het
Bhlhe22	A	G	3: 18,109,778 (GRCm39)	E276G	probably damaging	Het
Cdo1	C	A	18: 46,861,104 (GRCm39)	V36L	probably benign	Het
Ces1h	A	G	8: 94,084,046 (GRCm39)	F388S	unknown	Het
Col6a5	T	A	9: 105,766,266 (GRCm39)	N1885Y	probably damaging	Het
Corin	A	T	5: 72,496,388 (GRCm39)	C522S	probably damaging	Het
Csmd1	G	T	8: 16,760,658 (GRCm39)	T159K	possibly damaging	Het
Cspg4b	T	A	13: 113,504,802 (GRCm39)	L1977H	probably benign	Het
Cwc27	T	A	13: 104,940,769 (GRCm39)	K197*	probably null	Het
Cyp20a1	T	C	1: 60,391,283 (GRCm39)	S26P	probably damaging	Het
Daxx	T	A	17: 34,130,949 (GRCm39)	D321E	probably damaging	Het
Gria2	A	C	3: 80,648,311 (GRCm39)	Y142D	possibly damaging	Het
Gspt1	T	C	16: 11,041,072 (GRCm39)		probably null	Het
Ighv1-80	A	T	12: 115,876,265 (GRCm39)	V17D	probably damaging	Het
Ints4	T	A	7: 97,178,425 (GRCm39)	L675*	probably null	Het
Kif13a	C	T	13: 46,980,233 (GRCm39)	R173Q	probably damaging	Het
Map3k2	T	C	18: 32,336,086 (GRCm39)	I91T	probably damaging	Het
Map3k8	A	G	18: 4,348,979 (GRCm39)		probably null	Het
Mcemp1	G	A	8: 3,717,284 (GRCm39)	W101*	probably null	Het
Naca	T	C	10: 127,879,993 (GRCm39)	I1675T	probably benign	Het
Nol9	T	C	4: 152,125,514 (GRCm39)	F155S	probably damaging	Het
Obscn	C	A	11: 58,960,721 (GRCm39)	D3406Y	probably damaging	Het
Obsl1	A	G	1: 75,466,273 (GRCm39)	V1485A	possibly damaging	Het
Oga	A	T	19: 45,760,119 (GRCm39)		probably null	Het
Or8a1	T	C	9: 37,641,725 (GRCm39)	K185E	possibly damaging	Het
Otog	C	A	7: 45,950,639 (GRCm39)	P337H	probably damaging	Het
Patl1	T	C	19: 11,898,242 (GRCm39)	L140P	probably damaging	Het
Pcca	G	A	14: 122,820,035 (GRCm39)	V60M	probably damaging	Het
Pex11g	G	T	8: 3,514,092 (GRCm39)	D23E	probably damaging	Het
Phactr2	A	T	10: 13,137,626 (GRCm39)	M172K	probably damaging	Het
Plce1	G	A	19: 38,512,974 (GRCm39)	W91*	probably null	Het
Plch1	C	T	3: 63,688,811 (GRCm39)	W131*	probably null	Het
Podn	A	G	4: 107,884,357 (GRCm39)	F44S	probably damaging	Het
Polr3e	A	G	7: 120,527,205 (GRCm39)	D87G	possibly damaging	Het
Prmt2	T	A	10: 76,058,351 (GRCm39)	I153F	probably benign	Het
Prpf6	T	C	2: 181,273,229 (GRCm39)	V258A	probably benign	Het
Ptpn21	G	T	12: 98,655,521 (GRCm39)	A482E	probably damaging	Het
Qrich1	A	T	9: 108,411,491 (GRCm39)	N339Y	probably damaging	Het
Rabgap1	T	A	2: 37,432,659 (GRCm39)	V750D	possibly damaging	Het
Reg3d	G	A	6: 78,354,428 (GRCm39)	P58S	probably damaging	Het
Sema6b	A	G	17: 56,431,047 (GRCm39)	L872S	probably benign	Het
Serpinb7	T	C	1: 107,379,436 (GRCm39)	I281T	probably damaging	Het
Shank2	T	C	7: 143,838,821 (GRCm39)	V685A	possibly damaging	Het
Slc28a2	A	G	2: 122,284,980 (GRCm39)	I323V	possibly damaging	Het
Slc7a6	A	T	8: 106,919,099 (GRCm39)	I228F	probably damaging	Het
Slc9a9	A	G	9: 94,821,512 (GRCm39)	T300A	possibly damaging	Het
Spta1	A	G	1: 174,068,653 (GRCm39)	N2151S	probably damaging	Het
Sult2a1	T	A	7: 13,569,945 (GRCm39)	I96L	probably benign	Het
Tgm2	T	C	2: 157,966,070 (GRCm39)	D528G	probably benign	Het
Ubl7	T	C	9: 57,818,456 (GRCm39)		probably null	Het
Vcan	T	A	13: 89,839,716 (GRCm39)	I983L	probably benign	Het
Vmn1r172	T	C	7: 23,359,742 (GRCm39)	L209P	probably damaging	Het
Vmn1r181	G	A	7: 23,684,183 (GRCm39)	R216Q	probably benign	Het
Vmn1r3	T	C	4: 3,184,993 (GRCm39)	S105G	probably benign	Het
Zfp644	A	T	5: 106,783,711 (GRCm39)	H945Q	probably damaging	Het

Other mutations in Rp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00323:Rp1	APN	1	4,416,969 (GRCm39)	missense	probably damaging	0.98
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	4,418,760 (GRCm39)	missense	probably benign	0.20
R1509:Rp1	UTSW	1	4,417,917 (GRCm39)	missense	probably damaging	0.98
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
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

Predicted Primers

PCR Primer
(F):5'- CTGAGCCGTTCTGTCAGATAC -3'
(R):5'- GCACCTCACTTGAGTTTAGAACATC -3'

Sequencing Primer
(F):5'- GAGCCGTTCTGTCAGATACTTTCATG -3'
(R):5'- GGGAATGATTTTCATTTCCCT -3'

Posted On

2018-04-02