Mutagenetix > Incidental Mutation

Incidental Mutation 'R5970:Rp1'

470782

Institutional Source

Beutler Lab

Gene Symbol

Rp1

Ensembl Gene

ENSMUSG00000025900

Gene Name

retinitis pigmentosa 1 (human)

Synonyms

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

MMRRC Submission

044153-MU

Accession Numbers

Essential gene?

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

Stock #

R5970 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3999557-4409241 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4348462 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 809 (L809P)

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: L809P

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000027032
Gene: ENSMUSG00000025900
AA Change: L809P

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

Meta Mutation Damage Score

0.1411

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

98% (63/64)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1l1	G	A	6: 90,597,046 (GRCm38)		probably benign	Het
Ambn	T	C	5: 88,467,951 (GRCm38)	V413A	possibly damaging	Het
Amotl1	T	A	9: 14,596,528 (GRCm38)	D41V	probably damaging	Het
Arhgef26	T	C	3: 62,340,047 (GRCm38)	V184A	probably benign	Het
Birc6	G	T	17: 74,618,502 (GRCm38)	G936V	possibly damaging	Het
Ccser1	T	A	6: 61,311,242 (GRCm38)	S130T	possibly damaging	Het
Cecr2	A	G	6: 120,720,907 (GRCm38)	I56V	probably damaging	Het
Cfap52	A	G	11: 67,930,744 (GRCm38)	I486T	probably damaging	Het
Col4a3	A	G	1: 82,716,329 (GRCm38)	I1557V	possibly damaging	Het
Col6a5	T	A	9: 105,945,847 (GRCm38)	I104F	unknown	Het
Cry2	A	G	2: 92,412,967 (GRCm38)	S510P	probably benign	Het
Csmd2	G	C	4: 128,546,151 (GRCm38)	A3133P	probably benign	Het
Cyld	G	T	8: 88,732,993 (GRCm38)	A611S	probably damaging	Het
Dennd4c	G	A	4: 86,825,512 (GRCm38)	G1197E	probably damaging	Het
Dnah10	T	C	5: 124,808,729 (GRCm38)	F2969L	probably benign	Het
Dnaic1	A	G	4: 41,625,281 (GRCm38)	K415R	probably benign	Het
Dnmbp	T	A	19: 43,854,171 (GRCm38)	T1253S	probably benign	Het
Dsp	T	C	13: 38,195,702 (GRCm38)	L1542P	possibly damaging	Het
Duox1	T	A	2: 122,340,201 (GRCm38)	L1234Q	probably damaging	Het
Efr3b	T	A	12: 3,968,590 (GRCm38)	R585S	possibly damaging	Het
Gpt	A	G	15: 76,699,352 (GRCm38)		probably null	Het
Heatr6	G	A	11: 83,753,718 (GRCm38)		probably benign	Het
Kcns2	A	G	15: 34,839,784 (GRCm38)	D431G	probably benign	Het
Kdm3b	A	G	18: 34,829,289 (GRCm38)	N1543D	probably damaging	Het
Man2a1	A	G	17: 64,625,380 (GRCm38)	K154R	probably benign	Het
Mical3	G	A	6: 120,958,271 (GRCm38)	Q893*	probably null	Het
Morc3	C	T	16: 93,866,453 (GRCm38)	H515Y	possibly damaging	Het
Mprip	A	T	11: 59,757,721 (GRCm38)	R750S	probably damaging	Het
Mroh1	G	A	15: 76,451,491 (GRCm38)	V1436M	probably benign	Het
Muc5ac	C	T	7: 141,790,669 (GRCm38)	R69*	probably null	Het
Muc5b	A	T	7: 141,856,712 (GRCm38)	Y1274F	unknown	Het
Mybpc1	A	G	10: 88,542,456 (GRCm38)	L674P	probably damaging	Het
Mypn	A	G	10: 63,131,023 (GRCm38)	V958A	probably benign	Het
Nipbl	T	C	15: 8,296,818 (GRCm38)	T2436A	probably benign	Het
Olfr835	A	G	9: 19,035,147 (GRCm38)	D8G	probably benign	Het
Pcdhb5	T	A	18: 37,321,773 (GRCm38)	L402Q	probably damaging	Het
Pigp	T	A	16: 94,370,194 (GRCm38)		probably null	Het
Scn3a	T	A	2: 65,494,781 (GRCm38)		probably benign	Het
Sdf2	A	T	11: 78,246,080 (GRCm38)	M29L	probably benign	Het
Serpina3b	T	G	12: 104,134,091 (GRCm38)	L311V	possibly damaging	Het
Snx31	A	T	15: 36,523,488 (GRCm38)	Y349*	probably null	Het
Spidr	A	C	16: 16,114,869 (GRCm38)	C182W	probably damaging	Het
St13	A	T	15: 81,377,798 (GRCm38)	S146R	probably damaging	Het
St8sia4	A	G	1: 95,653,582 (GRCm38)	V145A	probably damaging	Het
Stradb	T	C	1: 58,980,016 (GRCm38)		probably null	Het
Tcp11l2	T	A	10: 84,594,797 (GRCm38)		probably benign	Het
Tfdp2	C	T	9: 96,317,574 (GRCm38)	P74S	unknown	Het
Tmprss15	C	T	16: 79,057,659 (GRCm38)	R287H	probably benign	Het
Trav10d	T	C	14: 52,811,322 (GRCm38)	Y57H	probably damaging	Het
Vmn2r104	A	G	17: 20,029,471 (GRCm38)	I846T	probably benign	Het
Ywhah	T	A	5: 33,026,948 (GRCm38)	M165K	possibly damaging	Het
Zfp324	C	A	7: 12,969,366 (GRCm38)	P72T	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
IGL02832:Rp1	APN	1	4,349,713 (GRCm38)	missense	probably benign	0.03
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	4,348,537 (GRCm38)	missense	probably benign	0.20
R1509:Rp1	UTSW	1	4,347,694 (GRCm38)	missense	probably damaging	0.98
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
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

Predicted Primers

PCR Primer
(F):5'- GTAACATGCTGTTCACTTACCTCAG -3'
(R):5'- AAGAGTTTGTGAGCAGGGCC -3'

Sequencing Primer
(F):5'- ACCTCAGCACCTGACTTTAATTTAAC -3'
(R):5'- GCAGGGCCTTAATATAAGTCCTATGG -3'

Posted On

2017-03-31