Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02077:Mfrp'

186002

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mfrp

Ensembl Gene

ENSMUSG00000034739

Gene Name

membrane frizzled-related protein

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.202) question?

Stock #

IGL02077

Quality Score

Status

Chromosome

Chromosomal Location

44013067-44020484 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 44016517 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 404 (T404M)

Ref Sequence

ENSEMBL: ENSMUSP00000145676 (fasta)

Gene Model

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

AlphaFold

Q8K480

Predicted Effect

probably damaging
Transcript: ENSMUST00000034654
AA Change: T404M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034654
Gene: ENSMUSG00000034739
AA Change: T404M

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 damaging
Transcript: ENSMUST00000161381
AA Change: T404M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124456
Gene: ENSMUSG00000034739
AA Change: T404M

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 damaging
Transcript: ENSMUST00000206308
AA Change: T404M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

unknown
Transcript: ENSMUST00000206722
AA Change: T15M

Predicted Effect

probably benign
Transcript: ENSMUST00000206295

Predicted Effect

probably benign
Transcript: ENSMUST00000206769

Predicted Effect

probably benign
Transcript: ENSMUST00000205500

Predicted Effect

probably benign
Transcript: ENSMUST00000205282

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174014

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162196

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

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

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: ENSMUST00000160985

SMART Domains

Protein: ENSMUSP00000124568
Gene: ENSMUSG00000053128

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

Coding Region Coverage

Validation Efficiency

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap11a	G	T	2: 113,667,816 (GRCm39)	T395K	possibly damaging	Het
Dop1b	T	C	16: 93,577,648 (GRCm39)	S58P	probably damaging	Het
F5	T	A	1: 164,026,435 (GRCm39)	V1669E	probably damaging	Het
Fndc7	T	A	3: 108,790,784 (GRCm39)	T81S	probably benign	Het
Hnf4a	G	T	2: 163,404,527 (GRCm39)		probably null	Het
Il27	C	T	7: 126,194,051 (GRCm39)		probably null	Het
Lhcgr	G	A	17: 89,057,558 (GRCm39)	T311I	probably benign	Het
Mafb	A	G	2: 160,207,687 (GRCm39)	S304P	probably benign	Het
Ntpcr	T	A	8: 126,464,107 (GRCm39)	Y77*	probably null	Het
Otof	A	G	5: 30,556,579 (GRCm39)	S301P	probably damaging	Het
Prpf6	G	A	2: 181,282,457 (GRCm39)	G533R	probably damaging	Het
Prpf8	T	A	11: 75,386,635 (GRCm39)	H1041Q	probably damaging	Het
Pyurf	T	C	6: 57,666,820 (GRCm39)	I81V	probably benign	Het
Rsl1d1	A	G	16: 11,012,320 (GRCm39)		probably benign	Het
Sema6a	A	T	18: 47,416,465 (GRCm39)	D387E	possibly damaging	Het
Serpinb3a	T	G	1: 106,974,111 (GRCm39)	T267P	probably damaging	Het
Tgm7	A	T	2: 120,934,316 (GRCm39)	M192K	probably damaging	Het
Thbs1	G	T	2: 117,943,591 (GRCm39)	V70L	probably benign	Het
Thsd7b	T	A	1: 129,744,419 (GRCm39)	I769N	probably damaging	Het
Tlr9	A	G	9: 106,102,704 (GRCm39)	Y665C	possibly damaging	Het
Ttn	T	C	2: 76,600,506 (GRCm39)	D18928G	probably damaging	Het
Uggt1	A	G	1: 36,215,875 (GRCm39)	S131P	probably damaging	Het
Unc80	A	G	1: 66,564,875 (GRCm39)	N854S	possibly damaging	Het
Vps13b	A	G	15: 35,910,759 (GRCm39)	T3508A	possibly damaging	Het
Wdr43	G	A	17: 71,947,286 (GRCm39)	A381T	probably benign	Het
Zfyve26	A	T	12: 79,323,169 (GRCm39)	M859K	possibly damaging	Het

Other mutations in Mfrp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02070:Mfrp	APN	9	44,015,986 (GRCm39)	missense	probably benign	0.39
IGL02313:Mfrp	APN	9	44,014,171 (GRCm39)	missense	probably damaging	1.00
IGL02544:Mfrp	APN	9	44,014,091 (GRCm39)	missense	probably damaging	1.00
IGL02709:Mfrp	APN	9	44,014,561 (GRCm39)	missense	probably benign	0.00
R1592:Mfrp	UTSW	9	44,014,519 (GRCm39)	missense	probably damaging	1.00
R1728:Mfrp	UTSW	9	44,015,884 (GRCm39)	missense	possibly damaging	0.73
R1729:Mfrp	UTSW	9	44,015,884 (GRCm39)	missense	possibly damaging	0.73
R1886:Mfrp	UTSW	9	44,014,785 (GRCm39)	missense	possibly damaging	0.94
R1974:Mfrp	UTSW	9	44,017,669 (GRCm39)	missense	probably damaging	1.00
R2146:Mfrp	UTSW	9	44,015,015 (GRCm39)	missense	probably benign	0.12
R2150:Mfrp	UTSW	9	44,015,015 (GRCm39)	missense	probably benign	0.12
R2512:Mfrp	UTSW	9	44,013,835 (GRCm39)	missense	probably benign	0.01
R3788:Mfrp	UTSW	9	44,016,754 (GRCm39)	nonsense	probably null
R4204:Mfrp	UTSW	9	44,016,525 (GRCm39)	missense	possibly damaging	0.86
R4240:Mfrp	UTSW	9	44,014,163 (GRCm39)	missense	possibly damaging	0.91
R4839:Mfrp	UTSW	9	44,013,432 (GRCm39)	missense	possibly damaging	0.89
R4963:Mfrp	UTSW	9	44,014,561 (GRCm39)	missense	probably benign	0.33
R5041:Mfrp	UTSW	9	44,013,575 (GRCm39)	missense	probably damaging	1.00
R6370:Mfrp	UTSW	9	44,017,558 (GRCm39)	missense	probably damaging	1.00
R7420:Mfrp	UTSW	9	44,013,773 (GRCm39)	unclassified	probably benign
R7454:Mfrp	UTSW	9	44,016,480 (GRCm39)	missense	possibly damaging	0.90
R8750:Mfrp	UTSW	9	44,014,802 (GRCm39)	missense	probably benign	0.05
R8850:Mfrp	UTSW	9	44,013,807 (GRCm39)	missense	probably benign	0.10
R9138:Mfrp	UTSW	9	44,017,673 (GRCm39)	missense	possibly damaging	0.80
R9430:Mfrp	UTSW	9	44,014,570 (GRCm39)	missense	probably damaging	0.97
R9444:Mfrp	UTSW	9	44,017,440 (GRCm39)	missense	probably damaging	0.99
Z1177:Mfrp	UTSW	9	44,013,816 (GRCm39)	missense	probably damaging	0.98

Posted On

2014-05-07