Mutagenetix > Incidental Mutation

Incidental Mutation 'R1974:Mfrp'

221431

Institutional Source

Beutler Lab

Gene Symbol

Mfrp

Ensembl Gene

ENSMUSG00000034739

Gene Name

membrane frizzled-related protein

Synonyms

MMRRC Submission

039987-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.174) question?

Stock #

R1974 (G1)

Quality Score

181

Status

Not validated

Chromosome

Chromosomal Location

44013067-44020484 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44017669 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 554 (C554R)

Ref Sequence

ENSEMBL: ENSMUSP00000145676 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034654] [ENSMUST00000056328] [ENSMUST00000065379] [ENSMUST00000114815] [ENSMUST00000114816] [ENSMUST00000114818] [ENSMUST00000114821] [ENSMUST00000206308] [ENSMUST00000161381] [ENSMUST00000205282] [ENSMUST00000206769] [ENSMUST00000205500] [ENSMUST00000206295] [ENSMUST00000162126] [ENSMUST00000185479] [ENSMUST00000152956] [ENSMUST00000161703] [ENSMUST00000216511] [ENSMUST00000215685]

AlphaFold

Q8K480

Predicted Effect

probably damaging
Transcript: ENSMUST00000034654
AA Change: C554R

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

SMART Domains

Protein: ENSMUSP00000034654
Gene: ENSMUSG00000034739
AA Change: C554R

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: ENSMUST00000056328

SMART Domains

Protein: ENSMUSP00000110478
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: 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

unknown
Transcript: ENSMUST00000206722
AA Change: C171R

Predicted Effect

probably damaging
Transcript: ENSMUST00000206308
AA Change: C554R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000161381
AA Change: C548R

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

SMART Domains

Protein: ENSMUSP00000124456
Gene: ENSMUSG00000034739
AA Change: C548R

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: ENSMUST00000205282

Predicted Effect

probably benign
Transcript: ENSMUST00000206769

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162196

Predicted Effect

probably benign
Transcript: ENSMUST00000205500

Predicted Effect

probably benign
Transcript: ENSMUST00000206295

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174014

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: 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: 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

noncoding transcript
Transcript: ENSMUST00000216960

Predicted Effect

probably benign
Transcript: ENSMUST00000216511

Predicted Effect

probably benign
Transcript: ENSMUST00000215685

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.3%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	A	3: 137,773,028 (GRCm39)	L739Q	probably damaging	Het
4933436I01Rik	A	T	X: 66,963,655 (GRCm39)	Y401*	probably null	Het
Abcg3	A	G	5: 105,111,504 (GRCm39)	V321A	probably benign	Het
Acad10	C	A	5: 121,764,248 (GRCm39)	V894L	possibly damaging	Het
Adam9	A	G	8: 25,482,240 (GRCm39)	I255T	probably damaging	Het
Ago3	T	C	4: 126,240,544 (GRCm39)	Y785C	probably damaging	Het
Aif1	G	A	17: 35,391,127 (GRCm39)	P44L	probably benign	Het
Akap4	A	G	X: 6,943,595 (GRCm39)	S633G	probably benign	Het
Alox15	T	A	11: 70,240,799 (GRCm39)	T194S	probably benign	Het
Amh	T	C	10: 80,642,250 (GRCm39)	S207P	probably benign	Het
Apc	T	A	18: 34,433,057 (GRCm39)	C415S	possibly damaging	Het
Atg14	G	A	14: 47,783,298 (GRCm39)	R346C	probably damaging	Het
Atp5mf	A	T	5: 145,121,389 (GRCm39)	L64Q	probably damaging	Het
Barhl2	C	G	5: 106,605,179 (GRCm39)	E177Q	probably benign	Het
C1qtnf5	T	C	9: 44,020,072 (GRCm39)	V232A	probably damaging	Het
Calr	T	C	8: 85,570,786 (GRCm39)	I290V	probably benign	Het
Cdh19	G	C	1: 110,817,889 (GRCm39)	Q618E	possibly damaging	Het
Celsr2	G	T	3: 108,321,530 (GRCm39)	D427E	probably damaging	Het
Cep250	T	C	2: 155,831,424 (GRCm39)	S1294P	probably damaging	Het
Chrna7	T	A	7: 62,749,034 (GRCm39)	T483S	probably damaging	Het
Clmn	A	T	12: 104,758,121 (GRCm39)	W132R	probably damaging	Het
Cpsf2	G	A	12: 101,956,306 (GRCm39)	D370N	probably benign	Het
Crnn	T	C	3: 93,056,594 (GRCm39)	V460A	probably benign	Het
Daam1	T	A	12: 72,035,703 (GRCm39)	I957N	probably damaging	Het
Defb9	T	C	8: 22,371,905 (GRCm39)	K36R	probably benign	Het
Dock10	T	A	1: 80,488,143 (GRCm39)	I2007F	possibly damaging	Het
Dpm1	A	T	2: 168,059,667 (GRCm39)	V143D	probably damaging	Het
Dync1h1	T	C	12: 110,592,166 (GRCm39)	V1110A	possibly damaging	Het
Erlec1	T	G	11: 30,889,604 (GRCm39)	K373N	possibly damaging	Het
Fbxo40	C	T	16: 36,790,303 (GRCm39)	G269E	probably benign	Het
Fbxw7	T	A	3: 84,862,242 (GRCm39)	C70S	possibly damaging	Het
Fhip2a	T	C	19: 57,373,809 (GRCm39)	F690L	probably damaging	Het
Fnbp1	G	T	2: 30,943,059 (GRCm39)	R280S	probably null	Het
Gapvd1	G	A	2: 34,590,853 (GRCm39)	R940C	probably damaging	Het
Gfod2	T	C	8: 106,444,142 (GRCm39)	K134E	possibly damaging	Het
Gpi1	A	T	7: 33,920,228 (GRCm39)		probably null	Het
Grik2	A	T	10: 49,008,923 (GRCm39)	N721K	possibly damaging	Het
Gsn	G	T	2: 35,191,483 (GRCm39)	G455V	probably damaging	Het
Hlx	G	T	1: 184,464,184 (GRCm39)	A52D	probably damaging	Het
Hpse	A	G	5: 100,840,104 (GRCm39)	S338P	probably damaging	Het
Hyal2	T	C	9: 107,449,371 (GRCm39)	C376R	probably damaging	Het
Inf2	A	G	12: 112,574,771 (GRCm39)	T781A	unknown	Het
Iscu	A	G	5: 113,915,079 (GRCm39)		probably benign	Het
Kcna4	G	A	2: 107,126,565 (GRCm39)	G433D	possibly damaging	Het
Kir3dl2	T	A	X: 135,357,024 (GRCm39)	N146I	probably benign	Het
Klrg1	T	A	6: 122,259,721 (GRCm39)	Q17L	possibly damaging	Het
Krt82	T	G	15: 101,453,597 (GRCm39)	Q263P	probably benign	Het
Minar1	T	G	9: 89,483,256 (GRCm39)	T714P	probably damaging	Het
Mst1r	T	C	9: 107,791,962 (GRCm39)	Y833H	probably damaging	Het
Mst1r	T	A	9: 107,793,132 (GRCm39)		probably null	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Nipal4	T	C	11: 46,042,210 (GRCm39)	N157S	probably damaging	Het
Notch2	G	A	3: 97,980,071 (GRCm39)	G195D	probably damaging	Het
Nrcam	A	T	12: 44,610,776 (GRCm39)	H492L	probably benign	Het
Or10aa1	A	T	1: 173,870,154 (GRCm39)	I213F	probably damaging	Het
Or4p21	A	T	2: 88,276,853 (GRCm39)	I143N	probably damaging	Het
Papln	G	A	12: 83,828,811 (GRCm39)	R817H	probably damaging	Het
Pcnx2	T	C	8: 126,614,110 (GRCm39)	E447G	probably benign	Het
Pdp2	T	C	8: 105,320,538 (GRCm39)	V129A	probably benign	Het
Plch2	A	G	4: 155,069,410 (GRCm39)	F1072S	possibly damaging	Het
Prag1	T	A	8: 36,570,081 (GRCm39)	D221E	probably damaging	Het
Prkg1	T	C	19: 31,563,095 (GRCm39)	D102G	probably damaging	Het
Psme4	T	A	11: 30,769,011 (GRCm39)	D662E	probably benign	Het
Ptprn	T	C	1: 75,231,464 (GRCm39)		probably null	Het
Ptprz1	A	G	6: 22,986,310 (GRCm39)	D370G	probably damaging	Het
Qser1	A	G	2: 104,590,886 (GRCm39)	S1637P	probably damaging	Het
Sema6a	T	A	18: 47,403,696 (GRCm39)	H642L	probably benign	Het
Slc30a5	A	T	13: 100,950,461 (GRCm39)	F209I	probably benign	Het
Slc4a3	G	T	1: 75,528,835 (GRCm39)	E508*	probably null	Het
Stpg2	C	T	3: 139,014,944 (GRCm39)	R370*	probably null	Het
Tas2r113	T	A	6: 132,870,796 (GRCm39)	F275I	probably benign	Het
Tmem132d	T	G	5: 128,346,263 (GRCm39)	K86N	probably damaging	Het
Tpgs2	A	T	18: 25,273,593 (GRCm39)	F189L	probably damaging	Het
Trmt6	A	G	2: 132,652,968 (GRCm39)	S104P	probably damaging	Het
Trpv3	T	C	11: 73,174,514 (GRCm39)	S294P	probably damaging	Het
Ugt2b36	A	G	5: 87,228,727 (GRCm39)		probably null	Het
Vmn1r170	A	T	7: 23,305,906 (GRCm39)	M103L	probably benign	Het
Vmn2r107	T	A	17: 20,575,879 (GRCm39)		probably null	Het
Vmn2r5	C	T	3: 64,411,642 (GRCm39)	E309K	probably damaging	Het
Vmn2r77	T	C	7: 86,449,964 (GRCm39)	V70A	probably benign	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
IGL02077:Mfrp	APN	9	44,016,517 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- ATGGAGACTGGACACCTGATG -3'
(R):5'- CGCAGAATCCCTTATCCAGG -3'

Sequencing Primer
(F):5'- GGACACCTGATGTTCATCTTTC -3'
(R):5'- ATCCAGGCCACCCTTGC -3'

Posted On

2014-08-25