Mutagenetix > Incidental Mutation

Incidental Mutation 'R0025:Prph2'

40831

Institutional Source

Beutler Lab

Gene Symbol

Prph2

Ensembl Gene

ENSMUSG00000023978

Gene Name

peripherin 2

Synonyms

Tspan22, Rd2, Nmf193, rds

MMRRC Submission

038320-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0025 (G1)

Quality Score

133

Status

Validated

Chromosome

Chromosomal Location

47221404-47235859 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 47230697 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamine at position 197 (K197Q)

Ref Sequence

ENSEMBL: ENSMUSP00000024773 (fasta)

Gene Model

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

AlphaFold

P15499

Predicted Effect

probably benign
Transcript: ENSMUST00000024773
AA Change: K197Q

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000024773
Gene: ENSMUSG00000023978
AA Change: K197Q

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

Meta Mutation Damage Score

0.0687

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.3%

Validation Efficiency

98% (115/117)

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm1	A	T	7: 119,257,538 (GRCm39)	T435S	probably damaging	Het
Agtpbp1	G	A	13: 59,648,014 (GRCm39)	T602I	probably benign	Het
Ahnak2	T	A	12: 112,749,154 (GRCm39)	D231V	probably damaging	Het
Ampd3	G	A	7: 110,392,876 (GRCm39)	D215N	probably benign	Het
Ankrd17	T	C	5: 90,398,264 (GRCm39)	D1762G	probably damaging	Het
Asb8	C	T	15: 98,040,552 (GRCm39)	V37I	possibly damaging	Het
Bicra	T	C	7: 15,721,436 (GRCm39)	T694A	possibly damaging	Het
Btnl6	A	T	17: 34,733,273 (GRCm39)	M234K	probably benign	Het
Ccnb1	A	T	13: 100,916,289 (GRCm39)	V336D	probably damaging	Het
Cdca8	A	T	4: 124,815,047 (GRCm39)	L190Q	possibly damaging	Het
Cep290	A	T	10: 100,373,693 (GRCm39)	L1324F	probably damaging	Het
Ces1f	T	C	8: 93,998,513 (GRCm39)	E161G	probably benign	Het
Ces2g	A	G	8: 105,692,628 (GRCm39)		probably benign	Het
Cfap74	C	T	4: 155,510,572 (GRCm39)	R386C	probably benign	Het
Clec3b	A	G	9: 122,986,090 (GRCm39)	T163A	probably benign	Het
Cntnap4	T	G	8: 113,529,796 (GRCm39)	L668R	probably damaging	Het
Col27a1	A	G	4: 63,194,214 (GRCm39)	D857G	probably damaging	Het
Csf1	A	G	3: 107,655,960 (GRCm39)	V245A	probably benign	Het
Ctss	A	G	3: 95,457,448 (GRCm39)	Y302C	probably damaging	Het
Cyb5d1	A	G	11: 69,285,792 (GRCm39)		probably null	Het
Cyp1a2	A	G	9: 57,589,344 (GRCm39)	S157P	probably damaging	Het
Cyp2b9	A	T	7: 25,900,238 (GRCm39)	T349S	probably benign	Het
Dennd6b	T	C	15: 89,070,386 (GRCm39)	I428V	probably benign	Het
Denr	A	G	5: 124,065,298 (GRCm39)		probably benign	Het
Dnah9	G	A	11: 65,860,781 (GRCm39)		probably benign	Het
Dock3	G	T	9: 106,790,467 (GRCm39)	Q1419K	possibly damaging	Het
Dph3b-ps	A	T	13: 106,683,375 (GRCm39)		noncoding transcript	Het
Emc7	G	T	2: 112,289,830 (GRCm39)	D87Y	probably damaging	Het
Enah	T	C	1: 181,740,938 (GRCm39)	E462G	possibly damaging	Het
Eno1b	T	C	18: 48,180,806 (GRCm39)	I328T	probably benign	Het
Enpp6	A	G	8: 47,519,035 (GRCm39)	K268E	probably damaging	Het
Eps15l1	T	G	8: 73,135,341 (GRCm39)		probably benign	Het
Fam151a	T	C	4: 106,605,371 (GRCm39)	Y578H	probably benign	Het
Fmn2	T	C	1: 174,618,880 (GRCm39)	V1512A	probably damaging	Het
Focad	C	A	4: 88,327,196 (GRCm39)	N168K	probably benign	Het
Fyco1	A	G	9: 123,658,074 (GRCm39)	C701R	probably damaging	Het
Gabbr1	G	T	17: 37,378,102 (GRCm39)		probably benign	Het
Golga7b	A	T	19: 42,255,278 (GRCm39)	E76V	probably damaging	Het
Gucy2d	A	G	7: 98,116,959 (GRCm39)	D924G	probably benign	Het
H2-M9	A	G	17: 36,952,647 (GRCm39)	F133S	probably damaging	Het
Hc	A	G	2: 34,876,304 (GRCm39)	Y1581H	probably damaging	Het
Herc3	C	T	6: 58,851,293 (GRCm39)	P514L	probably damaging	Het
Hormad1	T	C	3: 95,492,436 (GRCm39)		probably benign	Het
Iigp1	T	A	18: 60,523,859 (GRCm39)	S326T	possibly damaging	Het
Itga2	G	A	13: 115,007,032 (GRCm39)	S432L	possibly damaging	Het
Kcnk7	T	G	19: 5,757,042 (GRCm39)	*344G	probably null	Het
Kif13a	A	G	13: 46,939,987 (GRCm39)		probably null	Het
Kif1a	A	C	1: 92,970,080 (GRCm39)	I1027S	probably damaging	Het
Kif2c	G	T	4: 117,022,714 (GRCm39)	H416Q	probably damaging	Het
Liat1	AGAGGAGGAGGAGGAGG	AGAGGAGGAGGAGG	11: 75,890,941 (GRCm39)		probably benign	Het
Map3k1	A	G	13: 111,892,663 (GRCm39)	V864A	probably benign	Het
Mark2	T	C	19: 7,263,287 (GRCm39)	D160G	probably damaging	Het
Mbd4	A	G	6: 115,821,529 (GRCm39)		probably null	Het
Micu1	A	G	10: 59,624,699 (GRCm39)		probably null	Het
Mink1	T	C	11: 70,503,868 (GRCm39)	W1263R	probably damaging	Het
Mov10	A	C	3: 104,711,919 (GRCm39)	L224R	probably damaging	Het
Ndel1	T	C	11: 68,726,999 (GRCm39)	E226G	probably damaging	Het
Neb	A	T	2: 52,112,786 (GRCm39)	V4336E	probably damaging	Het
Nln	T	A	13: 104,173,399 (GRCm39)	K602N	probably damaging	Het
Nlrp14	A	T	7: 106,780,465 (GRCm39)		probably benign	Het
Nmd3	A	T	3: 69,655,654 (GRCm39)	D445V	probably damaging	Het
Nop14	T	C	5: 34,801,297 (GRCm39)	I625V	probably benign	Het
Notch1	T	C	2: 26,360,943 (GRCm39)	Q1134R	probably damaging	Het
Nr4a2	T	C	2: 56,998,627 (GRCm39)	I392M	probably benign	Het
Or13n4	A	G	7: 106,422,963 (GRCm39)	F257L	possibly damaging	Het
Or4f6	T	A	2: 111,839,365 (GRCm39)	L55F	probably damaging	Het
Or8b57	A	G	9: 40,003,549 (GRCm39)	S234P	probably damaging	Het
Osbp	T	C	19: 11,961,322 (GRCm39)	Y454H	probably damaging	Het
Pak4	G	A	7: 28,263,708 (GRCm39)	R343C	probably damaging	Het
Pak5	T	C	2: 135,942,704 (GRCm39)	K479E	possibly damaging	Het
Pard3	C	A	8: 127,888,058 (GRCm39)	D73E	probably damaging	Het
Pcdh10	T	C	3: 45,334,934 (GRCm39)	V416A	possibly damaging	Het
Plek	A	C	11: 16,935,594 (GRCm39)	W261G	probably damaging	Het
Pmp22	A	T	11: 63,049,076 (GRCm39)		probably null	Het
Prss45	T	A	9: 110,669,962 (GRCm39)	L257Q	probably damaging	Het
Psmb6	C	A	11: 70,417,171 (GRCm39)	H73Q	probably benign	Het
Rin2	T	C	2: 145,720,752 (GRCm39)		probably benign	Het
Rps6kb1	A	T	11: 86,402,413 (GRCm39)		probably null	Het
Scn10a	C	A	9: 119,499,550 (GRCm39)	D248Y	probably damaging	Het
Scn4a	C	T	11: 106,215,386 (GRCm39)	V1197I	probably benign	Het
Siglecf	A	T	7: 43,001,349 (GRCm39)	I106F	probably benign	Het
Sik1	A	G	17: 32,066,249 (GRCm39)		probably benign	Het
Slc22a21	T	G	11: 53,870,514 (GRCm39)	N57T	probably damaging	Het
Slc36a2	A	G	11: 55,053,621 (GRCm39)	L339P	probably damaging	Het
Slc4a9	G	T	18: 36,664,719 (GRCm39)		probably benign	Het
Smg1	G	A	7: 117,811,666 (GRCm39)	T104I	possibly damaging	Het
Stc2	A	T	11: 31,315,559 (GRCm39)		probably null	Het
Stx18	T	A	5: 38,249,908 (GRCm39)	Y74N	probably damaging	Het
Stxbp5	A	T	10: 9,638,492 (GRCm39)	H1102Q	probably damaging	Het
Tnfaip8l2	G	A	3: 95,047,339 (GRCm39)	L175F	probably damaging	Het
Tom1l2	T	C	11: 60,120,960 (GRCm39)	K450E	probably damaging	Het
Tpo	T	C	12: 30,150,389 (GRCm39)	Q497R	probably benign	Het
Tprg1l	G	T	4: 154,244,802 (GRCm39)		probably benign	Het
Triml2	A	G	8: 43,638,469 (GRCm39)	M146V	probably benign	Het
Tsc2	A	G	17: 24,849,978 (GRCm39)		probably benign	Het
Tut7	A	T	13: 59,953,142 (GRCm39)	D99E	probably benign	Het
Vit	G	A	17: 78,907,264 (GRCm39)	G229R	probably benign	Het
Vmn2r19	C	T	6: 123,308,506 (GRCm39)	L528F	probably benign	Het
Vwf	T	A	6: 125,659,775 (GRCm39)	I2658N	probably benign	Het
Wdfy3	T	C	5: 101,992,912 (GRCm39)	D3341G	probably damaging	Het
Wdr36	T	A	18: 32,992,360 (GRCm39)	D632E	probably damaging	Het
Wdr47	G	T	3: 108,545,307 (GRCm39)	A733S	probably damaging	Het
Zfp458	T	A	13: 67,405,962 (GRCm39)	H156L	probably damaging	Het
Zfp654	A	G	16: 64,605,181 (GRCm39)	V466A	probably benign	Het
Zfp804b	T	C	5: 6,821,665 (GRCm39)	E466G	probably damaging	Het
Zfp941	T	C	7: 140,393,185 (GRCm39)	D58G	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
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
R5645:Prph2	UTSW	17	47,221,593 (GRCm39)	start gained	probably benign
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'- CATCCACTCCAGGAAATAGGTTCGC -3'
(R):5'- GTTAAACCCAAGTCTGGCAGGCTC -3'

Sequencing Primer
(F):5'- CAGGAAATAGGTTCGCTGTCC -3'
(R):5'- GCTGTAGTAATTCAGCAGAGC -3'

Posted On

2013-05-23