Mutagenetix > Incidental Mutation

Incidental Mutation 'R5645:Prph2'

441109

Institutional Source

Beutler Lab

Gene Symbol

Prph2

Ensembl Gene

ENSMUSG00000023978

Gene Name

peripherin 2

Synonyms

Tspan22, Rd2, Nmf193, rds

MMRRC Submission

043293-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5645 (G1)

Quality Score

218

Status

Not validated

Chromosome

Chromosomal Location

47221404-47235859 bp(+) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

G to T at 47221593 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000024773 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024773]

AlphaFold

P15499

Predicted Effect

probably benign
Transcript: ENSMUST00000024773

SMART Domains

Protein: ENSMUSP00000024773
Gene: ENSMUSG00000023978

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	16	288	2.2e-28	PFAM
low complexity region	333	346	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162469

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein found in the outer segment of both rod and cone photoreceptor cells. It may function as an adhesion molecule involved in stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. This protein is essential for disk morphogenesis. Defects in this gene are associated with both central and peripheral retinal degenerations. Some of the various phenotypically different disorders are autosomal dominant retinitis pigmentosa, progressive macular degeneration, macular dystrophy and retinitis pigmentosa digenic. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a spontaneous mutation display slow retinal degeneration with thinning and loss of the outer nuclear layer, loss of photoreceptor outer segments, and increased numbers of Muller cells. Heterozygous mice also display retinal degeneration and Muller cell gliosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700102P08Rik	A	G	9: 108,274,403 (GRCm39)	I169V	probably damaging	Het
4930503B20Rik	C	T	3: 146,356,264 (GRCm39)	E215K	probably damaging	Het
Abca6	T	C	11: 110,141,234 (GRCm39)	E29G	probably damaging	Het
Acsm1	A	G	7: 119,239,920 (GRCm39)	H288R	probably damaging	Het
Adamts12	A	G	15: 11,277,506 (GRCm39)	T707A	possibly damaging	Het
Adcy2	C	A	13: 68,877,321 (GRCm39)		probably null	Het
Agbl4	A	T	4: 111,514,527 (GRCm39)	I513F	possibly damaging	Het
Ak5	A	T	3: 152,361,670 (GRCm39)	M84K	possibly damaging	Het
Akap1	T	C	11: 88,736,453 (GRCm39)	T103A	probably benign	Het
Akap9	A	G	5: 4,100,590 (GRCm39)	T2751A	probably benign	Het
Amer3	A	T	1: 34,627,462 (GRCm39)	H567L	possibly damaging	Het
Ano6	A	G	15: 95,818,232 (GRCm39)	Y325C	probably benign	Het
Apba2	A	G	7: 64,345,554 (GRCm39)	E248G	possibly damaging	Het
Asap2	T	A	12: 21,315,983 (GRCm39)	V967E	probably damaging	Het
Atosa	T	A	9: 74,932,961 (GRCm39)	V976E	probably damaging	Het
Boc	A	G	16: 44,320,024 (GRCm39)	V320A	probably damaging	Het
Car13	T	A	3: 14,710,180 (GRCm39)	Y41N	possibly damaging	Het
Ccdc162	T	C	10: 41,428,352 (GRCm39)	T1976A	probably benign	Het
Cep295	C	A	9: 15,246,404 (GRCm39)	S684I	possibly damaging	Het
Cep295	A	T	9: 15,244,090 (GRCm39)	H1455Q	probably damaging	Het
Cr2	G	T	1: 194,836,581 (GRCm39)	H861N	probably damaging	Het
Cul5	T	C	9: 53,534,243 (GRCm39)	I630V	probably benign	Het
Cyp2c37	G	A	19: 39,982,596 (GRCm39)	V145I	probably benign	Het
Dnmt1	G	A	9: 20,833,443 (GRCm39)	T500M	probably damaging	Het
Elp1	T	C	4: 56,776,920 (GRCm39)	T626A	possibly damaging	Het
Fam161a	T	A	11: 22,965,725 (GRCm39)	I6N	probably damaging	Het
Fry	T	C	5: 150,304,332 (GRCm39)	V574A	probably damaging	Het
Glb1l3	G	T	9: 26,736,122 (GRCm39)	L553I	probably benign	Het
Gm1123	T	C	9: 98,896,244 (GRCm39)	D212G	probably benign	Het
Grin2a	T	A	16: 9,810,090 (GRCm39)	D103V	probably damaging	Het
Heg1	A	G	16: 33,527,333 (GRCm39)	I98V	probably benign	Het
Hmcn2	C	A	2: 31,310,824 (GRCm39)	T3356N	possibly damaging	Het
Hpf1	T	G	8: 61,349,834 (GRCm39)	I154S	possibly damaging	Het
Ifnar2	A	G	16: 91,201,115 (GRCm39)	D452G	possibly damaging	Het
Iqcc	A	T	4: 129,510,320 (GRCm39)	H398Q	possibly damaging	Het
Iqgap3	T	C	3: 88,025,006 (GRCm39)	I669T	probably damaging	Het
Itgae	A	G	11: 73,020,074 (GRCm39)	T859A	probably damaging	Het
Kansl1l	T	C	1: 66,840,503 (GRCm39)	M266V	probably benign	Het
Kbtbd3	A	G	9: 4,331,426 (GRCm39)	D600G	possibly damaging	Het
Klf13	G	A	7: 63,541,348 (GRCm39)		probably benign	Het
Kmt2d	A	G	15: 98,742,278 (GRCm39)		probably benign	Het
Lama1	A	G	17: 68,109,943 (GRCm39)	D2188G	probably damaging	Het
Leng8	A	G	7: 4,148,273 (GRCm39)	T682A	probably damaging	Het
Mab21l4	T	C	1: 93,080,668 (GRCm39)	T413A	probably damaging	Het
Mslnl	G	T	17: 25,956,816 (GRCm39)	G34V	possibly damaging	Het
Mycbp2	A	T	14: 103,426,044 (GRCm39)	S2360R	probably damaging	Het
Mycbp2	C	A	14: 103,426,051 (GRCm39)		probably null	Het
Nkx2-2	T	C	2: 147,026,319 (GRCm39)	T140A	probably damaging	Het
Or11h6	T	C	14: 50,880,524 (GRCm39)	V262A	probably benign	Het
Or4c125	A	T	2: 89,170,049 (GRCm39)	V199E	possibly damaging	Het
Oser1	C	T	2: 163,248,965 (GRCm39)	R79H	probably damaging	Het
Pfas	A	G	11: 68,881,958 (GRCm39)	V909A	probably damaging	Het
Pkhd1l1	A	G	15: 44,396,388 (GRCm39)	E1970G	probably benign	Het
Rusc2	G	T	4: 43,425,758 (GRCm39)	A1288S	probably benign	Het
Scart2	G	A	7: 139,828,853 (GRCm39)	V171I	possibly damaging	Het
Sdha	A	G	13: 74,471,958 (GRCm39)		probably null	Het
Sec16a	T	G	2: 26,329,907 (GRCm39)	T703P	probably benign	Het
Senp7	T	A	16: 55,993,571 (GRCm39)	N724K	possibly damaging	Het
Skint1	A	G	4: 111,882,699 (GRCm39)	I248V	probably benign	Het
Slc9a5	T	C	8: 106,083,645 (GRCm39)	V395A	probably benign	Het
Slco1a4	T	C	6: 141,780,385 (GRCm39)	N135S	possibly damaging	Het
Sncaip	A	G	18: 53,028,028 (GRCm39)	I412M	probably damaging	Het
Tacc2	A	T	7: 130,225,781 (GRCm39)	D841V	possibly damaging	Het
Tekt1	A	T	11: 72,242,663 (GRCm39)	H281Q	probably benign	Het
Tex46	G	T	4: 136,340,228 (GRCm39)	M104I	probably benign	Het
Tjp3	T	C	10: 81,114,454 (GRCm39)		probably null	Het
Treh	A	G	9: 44,593,975 (GRCm39)	Y154C	probably damaging	Het
Trim80	T	A	11: 115,337,611 (GRCm39)	L428Q	probably damaging	Het
Trpm6	A	G	19: 18,830,968 (GRCm39)	K1278E	probably damaging	Het
Tut4	G	A	4: 108,414,570 (GRCm39)	R49H	probably damaging	Het
Usp34	T	C	11: 23,325,024 (GRCm39)	M990T	possibly damaging	Het
Vps9d1	A	G	8: 123,974,487 (GRCm39)	S267P	probably benign	Het
Ywhae	T	C	11: 75,647,750 (GRCm39)	M160T	probably benign	Het

Other mutations in Prph2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00423:Prph2	APN	17	47,230,704 (GRCm39)	missense	probably damaging	0.97
IGL01087:Prph2	APN	17	47,222,085 (GRCm39)	missense	probably damaging	0.97
PIT4480001:Prph2	UTSW	17	47,222,039 (GRCm39)	frame shift	probably null
R0025:Prph2	UTSW	17	47,230,697 (GRCm39)	missense	probably benign	0.17
R2235:Prph2	UTSW	17	47,222,092 (GRCm39)	missense	probably damaging	1.00
R3120:Prph2	UTSW	17	47,234,298 (GRCm39)	missense	possibly damaging	0.49
R3954:Prph2	UTSW	17	47,221,644 (GRCm39)	missense	probably benign	0.39
R4864:Prph2	UTSW	17	47,221,848 (GRCm39)	missense	probably benign	0.03
R4972:Prph2	UTSW	17	47,221,733 (GRCm39)	missense	possibly damaging	0.94
R5687:Prph2	UTSW	17	47,234,391 (GRCm39)	missense	probably damaging	0.99
R6494:Prph2	UTSW	17	47,222,007 (GRCm39)	missense	probably benign	0.03
R6658:Prph2	UTSW	17	47,230,790 (GRCm39)	missense	probably benign	0.05
R7775:Prph2	UTSW	17	47,221,732 (GRCm39)	missense	possibly damaging	0.82
R7778:Prph2	UTSW	17	47,221,732 (GRCm39)	missense	possibly damaging	0.82
R7824:Prph2	UTSW	17	47,221,732 (GRCm39)	missense	possibly damaging	0.82
R8098:Prph2	UTSW	17	47,230,892 (GRCm39)	missense	probably benign	0.09
R9221:Prph2	UTSW	17	47,230,818 (GRCm39)	missense	probably damaging	1.00
R9703:Prph2	UTSW	17	47,234,447 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ATACGGCGGCCTAGATTAGC -3'
(R):5'- CCAGCCAGAGAGTTGAAGACAC -3'

Sequencing Primer
(F):5'- CTCCGGCTACCGTTACTGAG -3'
(R):5'- GCACAAAGTGGCTCTCAGAATTATTC -3'

Posted On

2016-11-08