Mutagenetix > Incidental Mutation

Incidental Mutation 'R2146:Mfrp'

233840

Institutional Source

Beutler Lab

Gene Symbol

Mfrp

Ensembl Gene

ENSMUSG00000034739

Gene Name

membrane frizzled-related protein

Synonyms

MMRRC Submission

040149-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.185) question?

Stock #

R2146 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44101729-44109187 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44103718 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 314 (L314P)

Ref Sequence

ENSEMBL: ENSMUSP00000145676 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034654] [ENSMUST00000065379] [ENSMUST00000114815] [ENSMUST00000114816] [ENSMUST00000114818] [ENSMUST00000114821] [ENSMUST00000152956] [ENSMUST00000161381] [ENSMUST00000161703] [ENSMUST00000162126] [ENSMUST00000206308] [ENSMUST00000206769] [ENSMUST00000205500] [ENSMUST00000206295] [ENSMUST00000205282] [ENSMUST00000185479]

AlphaFold

Q8K480

Predicted Effect

probably benign
Transcript: ENSMUST00000034654
AA Change: L314P

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000034654
Gene: ENSMUSG00000034739
AA Change: L314P

Domain	Start	End	E-Value	Type
transmembrane domain	67	89	N/A	INTRINSIC
low complexity region	119	132	N/A	INTRINSIC
CUB	150	259	3.6e-35	SMART
LDLa	265	302	1.5e-8	SMART
CUB	307	420	1.85e-37	SMART
Pfam:Fz	471	577	3e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000065379

SMART Domains

Protein: ENSMUSP00000070060
Gene: ENSMUSG00000053128

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
transmembrane domain	55	77	N/A	INTRINSIC
transmembrane domain	148	170	N/A	INTRINSIC
transmembrane domain	183	205	N/A	INTRINSIC
low complexity region	208	221	N/A	INTRINSIC
transmembrane domain	225	247	N/A	INTRINSIC
low complexity region	303	316	N/A	INTRINSIC
RING	371	412	1.57e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114815

SMART Domains

Protein: ENSMUSP00000110463
Gene: ENSMUSG00000079592

Domain	Start	End	E-Value	Type
low complexity region	3	19	N/A	INTRINSIC
low complexity region	47	91	N/A	INTRINSIC
C1Q	97	235	2.09e-45	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114816

SMART Domains

Protein: ENSMUSP00000110464
Gene: ENSMUSG00000079592

Domain	Start	End	E-Value	Type
low complexity region	3	19	N/A	INTRINSIC
low complexity region	47	91	N/A	INTRINSIC
C1Q	97	235	2.09e-45	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114818

SMART Domains

Protein: ENSMUSP00000110466
Gene: ENSMUSG00000079592

Domain	Start	End	E-Value	Type
low complexity region	3	19	N/A	INTRINSIC
low complexity region	47	91	N/A	INTRINSIC
C1Q	97	235	2.09e-45	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114821

SMART Domains

Protein: ENSMUSP00000110469
Gene: ENSMUSG00000079592

Domain	Start	End	E-Value	Type
low complexity region	3	19	N/A	INTRINSIC
low complexity region	47	91	N/A	INTRINSIC
C1Q	97	220	1.01e-29	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000152956

SMART Domains

Protein: ENSMUSP00000123040
Gene: ENSMUSG00000079592

Domain	Start	End	E-Value	Type
low complexity region	3	19	N/A	INTRINSIC
Pfam:Collagen	28	102	7.2e-10	PFAM
Pfam:C1q	105	138	1.5e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160985

SMART Domains

Protein: ENSMUSP00000124568
Gene: ENSMUSG00000053128

Domain	Start	End	E-Value	Type
RING	11	52	1.57e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000161381
AA Change: L314P

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000124456
Gene: ENSMUSG00000034739
AA Change: L314P

Domain	Start	End	E-Value	Type
transmembrane domain	67	89	N/A	INTRINSIC
low complexity region	119	132	N/A	INTRINSIC
CUB	150	259	3.6e-35	SMART
LDLa	265	302	1.5e-8	SMART
CUB	307	420	1.85e-37	SMART
Pfam:Fz	465	576	9.1e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161703

SMART Domains

Protein: ENSMUSP00000125053
Gene: ENSMUSG00000034739

Domain	Start	End	E-Value	Type
transmembrane domain	67	89	N/A	INTRINSIC
low complexity region	119	132	N/A	INTRINSIC
CUB	150	259	3.6e-35	SMART
LDLa	265	302	1.5e-8	SMART
LDLa	307	342	2.09e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000162126

SMART Domains

Protein: ENSMUSP00000123938
Gene: ENSMUSG00000111409

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
transmembrane domain	55	77	N/A	INTRINSIC
transmembrane domain	148	170	N/A	INTRINSIC
transmembrane domain	183	205	N/A	INTRINSIC
low complexity region	208	221	N/A	INTRINSIC
transmembrane domain	225	247	N/A	INTRINSIC
low complexity region	303	316	N/A	INTRINSIC
RING	371	412	1.57e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162196

Predicted Effect

probably benign
Transcript: ENSMUST00000206308
AA Change: L314P

PolyPhen 2 Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000206769

Predicted Effect

probably benign
Transcript: ENSMUST00000205500

Predicted Effect

probably benign
Transcript: ENSMUST00000206722

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174014

Predicted Effect

probably benign
Transcript: ENSMUST00000206295

Predicted Effect

probably benign
Transcript: ENSMUST00000205282

Predicted Effect

probably benign
Transcript: ENSMUST00000185479

SMART Domains

Protein: ENSMUSP00000140405
Gene: ENSMUSG00000111409

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
transmembrane domain	55	77	N/A	INTRINSIC
transmembrane domain	148	170	N/A	INTRINSIC
transmembrane domain	183	205	N/A	INTRINSIC
low complexity region	208	221	N/A	INTRINSIC
transmembrane domain	225	247	N/A	INTRINSIC
low complexity region	303	316	N/A	INTRINSIC
RING	371	412	1.57e-2	SMART

Meta Mutation Damage Score

0.1591

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

99% (84/85)

MGI Phenotype

FUNCTION: The protein encoded by this gene contains a region with similarity to the cysteine-rich domain (CRD) of frizzled, a gene originally found in Drosophila that controls tissue polarity. This protein functions in eye development, where it is necessary for the maintenance of photoreceptor outer segments. Mutations in this gene cause retinal degeneration 6 in mice, which gives rise to a mouse model for human retinitis punctata albescens. Bicistronic transcripts composed of the coding sequences for this gene (Mfrp) and the C1q and tumor necrosis factor related protein 5 gene (C1qtnf5) have been identified, and the resulting products can interact with each other. Co-transcription of C1qtnf5 and Mfrp has been observed in both human and mouse. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]
PHENOTYPE: Mutations produce mice having small, white retinal spots and progressive photoreceptor degeneration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	A	T	6: 124,347,844		probably null	Het
4933406M09Rik	T	A	1: 134,390,513	M341K	probably damaging	Het
9530002B09Rik	T	A	4: 122,689,405	C13*	probably null	Het
Abca12	C	A	1: 71,263,488	V2191L	probably benign	Het
Adamts18	G	C	8: 113,845,003	A116G	possibly damaging	Het
Anxa2	TCCC	TCC	9: 69,489,754		probably null	Het
Arfgef1	C	T	1: 10,199,878	A349T	probably benign	Het
Arhgap6	A	G	X: 168,796,500	T94A	probably benign	Het
Arhgef5	T	C	6: 43,283,318	S1413P	probably damaging	Het
Atg4c	C	A	4: 99,221,226	N143K	possibly damaging	Het
BC005561	T	C	5: 104,518,991	F460L	probably benign	Het
C1qtnf12	A	G	4: 155,966,465	N297S	probably benign	Het
Cadps2	G	T	6: 23,838,999		probably benign	Het
Ccdc185	G	T	1: 182,747,520	H535N	possibly damaging	Het
Ccdc57	A	G	11: 120,885,225		probably benign	Het
Cd163	A	G	6: 124,309,208	H239R	probably damaging	Het
Ceacam2	G	T	7: 25,527,943	C166*	probably null	Het
Ces5a	T	A	8: 93,534,699	E33D	probably benign	Het
Chl1	T	C	6: 103,715,401		probably null	Het
Chsy3	G	A	18: 59,176,472	V266I	probably benign	Het
Cpa5	G	T	6: 30,626,822	R251L	probably damaging	Het
Cps1	A	C	1: 67,152,379		probably benign	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,741,236		probably null	Het
Cstf1	T	C	2: 172,375,763	Y99H	probably damaging	Het
Cyp2j11	G	A	4: 96,316,358	T317I	probably damaging	Het
Dennd3	C	T	15: 73,523,496	T146M	probably damaging	Het
Dennd3	A	T	15: 73,555,060	H762L	probably benign	Het
Dnah2	T	C	11: 69,515,761	M552V	probably benign	Het
Dnajc22	T	C	15: 99,104,383	V303A	probably benign	Het
Dtx2	T	G	5: 136,030,610	L458R	probably benign	Het
Elmsan1	G	T	12: 84,173,035	P382T	probably damaging	Het
Fat3	A	T	9: 15,990,512	F3072L	probably benign	Het
Fgf5	T	C	5: 98,275,550	*265R	probably null	Het
Fndc11	A	G	2: 181,222,125	E241G	probably damaging	Het
Glb1	T	C	9: 114,450,648	Y375H	probably damaging	Het
Gm4922	T	G	10: 18,783,516	Q486P	probably benign	Het
Gm5786	A	T	12: 59,081,298		noncoding transcript	Het
Hepacam2	A	T	6: 3,463,378		probably benign	Het
Ints9	G	A	14: 64,986,343	G89R	possibly damaging	Het
Iqcm	T	A	8: 75,888,613	W441R	probably damaging	Het
Itga10	T	C	3: 96,651,492	L382P	possibly damaging	Het
Itga10	G	T	3: 96,653,723	G635W	probably damaging	Het
Kbtbd2	A	G	6: 56,779,090	Y554H	probably damaging	Het
Kif1b	T	C	4: 149,184,309	K1649R	probably damaging	Het
L1cam	A	T	X: 73,861,141	F536Y	probably damaging	Het
Magee1	A	T	X: 105,122,958	D783V	probably damaging	Het
Marveld3	A	T	8: 109,959,802	V144E	probably benign	Het
Mcam	T	C	9: 44,136,635	V59A	probably damaging	Het
Mdga2	C	T	12: 66,868,741	E47K	probably damaging	Het
Metrn	T	A	17: 25,796,627	E38V	probably damaging	Het
Mospd2	A	G	X: 164,956,477		probably null	Het
Mycbp2	G	A	14: 103,155,922	H3068Y	probably damaging	Het
Myh6	C	T	14: 54,953,771	R871H	probably damaging	Het
Nup214	C	T	2: 32,034,466	S1669F	probably damaging	Het
Olfr1104	T	A	2: 87,021,665	N293I	probably damaging	Het
Olfr1465	T	C	19: 13,314,121	T55A	probably benign	Het
Olfr156	A	G	4: 43,821,178	F61S	probably damaging	Het
Parvb	A	G	15: 84,232,168	K33E	possibly damaging	Het
Pdcd11	A	G	19: 47,104,752	M490V	probably benign	Het
Pet2	T	C	X: 89,406,277	D82G	possibly damaging	Het
Pkd2	A	C	5: 104,455,590		probably benign	Het
Reps1	T	A	10: 18,093,313	D206E	probably benign	Het
Rimkla	T	A	4: 119,474,582	M140L	possibly damaging	Het
Rnf13	T	G	3: 57,802,486	I150S	probably null	Het
Rxfp4	C	T	3: 88,652,893	A84T	probably damaging	Het
Serpinb8	T	A	1: 107,605,927	D237E	probably benign	Het
Sgo2b	T	G	8: 63,928,023	T592P	probably benign	Het
Slc35d1	A	T	4: 103,205,152	I228N	probably damaging	Het
Slc39a1	T	G	3: 90,249,450	H104Q	probably benign	Het
Slc6a6	T	C	6: 91,735,180	V230A	probably benign	Het
Slc9a3	A	G	13: 74,121,603	E30G	probably benign	Het
Slc9c1	A	G	16: 45,593,464	Y985C	probably benign	Het
Supt6	A	G	11: 78,230,932	F298S	probably damaging	Het
Tada2a	T	C	11: 84,079,629	D432G	probably damaging	Het
Tmem131	C	A	1: 36,812,609	V938L	probably benign	Het
Tnpo3	A	G	6: 29,589,036	V105A	probably benign	Het
Ttc7	T	C	17: 87,346,707		probably benign	Het
Ttn	T	C	2: 76,897,188		probably benign	Het
Usp16	T	C	16: 87,473,187		probably null	Het
Usp36	A	G	11: 118,268,665	L486S	probably benign	Het
Uty	T	C	Y: 1,239,816	I72V	probably benign	Het
Vps51	A	G	19: 6,068,134	V777A	probably benign	Het
Zfp160	A	G	17: 21,026,982	K598R	probably benign	Het
Zfp39	T	C	11: 58,890,332	N535D	probably benign	Het
Zfp804a	A	G	2: 82,258,664	T946A	probably benign	Het

Other mutations in Mfrp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02070:Mfrp	APN	9	44104689	missense	probably benign	0.39
IGL02077:Mfrp	APN	9	44105220	missense	probably damaging	1.00
IGL02313:Mfrp	APN	9	44102874	missense	probably damaging	1.00
IGL02544:Mfrp	APN	9	44102794	missense	probably damaging	1.00
IGL02709:Mfrp	APN	9	44103264	missense	probably benign	0.00
R1592:Mfrp	UTSW	9	44103222	missense	probably damaging	1.00
R1728:Mfrp	UTSW	9	44104587	missense	possibly damaging	0.73
R1729:Mfrp	UTSW	9	44104587	missense	possibly damaging	0.73
R1886:Mfrp	UTSW	9	44103488	missense	possibly damaging	0.94
R1974:Mfrp	UTSW	9	44106372	missense	probably damaging	1.00
R2150:Mfrp	UTSW	9	44103718	missense	probably benign	0.12
R2512:Mfrp	UTSW	9	44102538	missense	probably benign	0.01
R3788:Mfrp	UTSW	9	44105457	nonsense	probably null
R4204:Mfrp	UTSW	9	44105228	missense	possibly damaging	0.86
R4240:Mfrp	UTSW	9	44102866	missense	possibly damaging	0.91
R4839:Mfrp	UTSW	9	44102135	missense	possibly damaging	0.89
R4963:Mfrp	UTSW	9	44103264	missense	probably benign	0.33
R5041:Mfrp	UTSW	9	44102278	missense	probably damaging	1.00
R6370:Mfrp	UTSW	9	44106261	missense	probably damaging	1.00
R7420:Mfrp	UTSW	9	44102476	unclassified	probably benign
R7454:Mfrp	UTSW	9	44105183	missense	possibly damaging	0.90
R8750:Mfrp	UTSW	9	44103505	missense	probably benign	0.05
R8850:Mfrp	UTSW	9	44102510	missense	probably benign	0.10
R9138:Mfrp	UTSW	9	44106376	missense	possibly damaging	0.80
R9430:Mfrp	UTSW	9	44103273	missense	probably damaging	0.97
R9444:Mfrp	UTSW	9	44106143	missense	probably damaging	0.99
Z1177:Mfrp	UTSW	9	44102519	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ATTACCGAGTGTGCCGATG -3'
(R):5'- TTACCCAGCCTGGAAATGTCTG -3'

Sequencing Primer
(F):5'- TGGCAGTGACGAGGCCAAC -3'
(R):5'- CCAGCCTGGAAATGTCTGGTATAC -3'

Posted On

2014-10-01