Mutagenetix > Incidental Mutation

Incidental Mutation 'R1886:Mfrp'

209551

Institutional Source

Beutler Lab

Gene Symbol

Mfrp

Ensembl Gene

ENSMUSG00000034739

Gene Name

membrane frizzled-related protein

Synonyms

MMRRC Submission

039907-MU

Accession Numbers

Essential gene?

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

Stock #

R1886 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44013067-44020484 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44014785 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 274 (D274G)

Ref Sequence

ENSEMBL: ENSMUSP00000145676 (fasta)

Gene Model

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

AlphaFold

Q8K480

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034654
AA Change: D274G

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000034654
Gene: ENSMUSG00000034739
AA Change: D274G

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

possibly damaging
Transcript: ENSMUST00000161381
AA Change: D274G

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000124456
Gene: ENSMUSG00000034739
AA Change: D274G

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
AA Change: D274G

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000125053
Gene: ENSMUSG00000034739
AA Change: D274G

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

possibly damaging
Transcript: ENSMUST00000206308
AA Change: D274G

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000206769

Predicted Effect

probably benign
Transcript: ENSMUST00000205282

Predicted Effect

probably benign
Transcript: ENSMUST00000205500

Predicted Effect

probably benign
Transcript: ENSMUST00000206722

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162196

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174014

Predicted Effect

probably benign
Transcript: ENSMUST00000206295

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: 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: 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

Coding Region Coverage

1x: 97.2%
3x: 96.2%
10x: 93.1%
20x: 85.9%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700102P08Rik	T	A	9: 108,270,809 (GRCm39)	D124E	possibly damaging	Het
Aarsd1	T	C	11: 101,302,227 (GRCm39)	T278A	probably benign	Het
Acacb	T	A	5: 114,357,020 (GRCm39)	L1317Q	probably damaging	Het
Acsf3	T	C	8: 123,510,741 (GRCm39)	V293A	probably damaging	Het
Adora3	A	C	3: 105,812,152 (GRCm39)	N13H	possibly damaging	Het
Aen	A	T	7: 78,557,073 (GRCm39)	D307V	probably damaging	Het
Ahnak	G	A	19: 8,993,343 (GRCm39)	D4876N	probably damaging	Het
Ap2b1	T	A	11: 83,281,561 (GRCm39)	N822K	probably damaging	Het
Arhgdia	T	C	11: 120,470,244 (GRCm39)	D143G	probably benign	Het
Bcl9	G	T	3: 97,122,713 (GRCm39)	R29S	probably benign	Het
Bhmt2	T	A	13: 93,798,998 (GRCm39)	K274N	probably benign	Het
Brip1	C	A	11: 86,029,641 (GRCm39)	G631V	probably damaging	Het
Cacna1i	A	G	15: 80,243,145 (GRCm39)	E434G	probably damaging	Het
Ccdc81	T	C	7: 89,515,819 (GRCm39)	E620G	possibly damaging	Het
Cdhr18	A	C	14: 13,828,607 (GRCm38)	Y718D	probably damaging	Het
Cfap299	A	G	5: 98,949,690 (GRCm39)	N208S	probably benign	Het
Cit	A	G	5: 116,071,545 (GRCm39)	Y584C	probably damaging	Het
Crebl2	T	C	6: 134,828,059 (GRCm39)	M77T	probably benign	Het
Dach2	G	A	X: 112,208,305 (GRCm39)	G61D	probably benign	Het
Ddx4	A	T	13: 112,759,199 (GRCm39)	D237E	probably damaging	Het
Dgcr8	A	G	16: 18,096,218 (GRCm39)	I490T	possibly damaging	Het
Dmxl1	G	A	18: 49,992,202 (GRCm39)	R316H	probably benign	Het
Dnah17	T	A	11: 117,998,987 (GRCm39)	I929F	possibly damaging	Het
Eif3f	A	G	7: 108,539,958 (GRCm39)	T289A	probably benign	Het
Ercc5	A	T	1: 44,215,136 (GRCm39)	K890*	probably null	Het
Esrp2	A	T	8: 106,860,489 (GRCm39)	V247E	probably damaging	Het
Evpl	C	T	11: 116,118,402 (GRCm39)	G735E	probably damaging	Het
Ezhip	GTCATCATCATCATC	GTCATCATCATCATCATC	X: 5,994,645 (GRCm39)		probably benign	Het
Fbxl21	A	G	13: 56,674,906 (GRCm39)	I60V	probably benign	Het
Frem3	A	G	8: 81,340,514 (GRCm39)	I936V	probably benign	Het
Fsd1l	T	C	4: 53,696,984 (GRCm39)		probably null	Het
Gad1-ps	T	C	10: 99,281,444 (GRCm39)		noncoding transcript	Het
Gbp2b	A	G	3: 142,314,063 (GRCm39)	T448A	probably benign	Het
Gfus	G	T	15: 75,798,838 (GRCm39)	T123N	possibly damaging	Het
Gmppa	T	C	1: 75,419,152 (GRCm39)	V353A	probably damaging	Het
Hmcn1	T	C	1: 150,453,046 (GRCm39)	E5423G	probably benign	Het
Hmgxb3	A	G	18: 61,270,473 (GRCm39)		probably null	Het
Krt12	T	C	11: 99,309,402 (GRCm39)	D286G	probably damaging	Het
Krt75	A	T	15: 101,479,532 (GRCm39)	M266K	probably damaging	Het
Ksr1	C	A	11: 78,911,204 (GRCm39)	V11F	probably null	Het
Lag3	T	C	6: 124,886,402 (GRCm39)	N184D	probably damaging	Het
Lsm10	C	G	4: 125,991,741 (GRCm39)	D32E	probably benign	Het
Mettl5	A	G	2: 69,711,149 (GRCm39)	V123A	probably damaging	Het
Mgat3	A	G	15: 80,095,820 (GRCm39)	I216V	probably benign	Het
Mkrn3	G	A	7: 62,068,486 (GRCm39)	A435V	probably benign	Het
Mob3a	G	A	10: 80,527,068 (GRCm39)	Q86*	probably null	Het
Mplkipl1	A	G	19: 61,164,136 (GRCm39)	F100L	probably damaging	Het
Mttp	A	T	3: 137,798,376 (GRCm39)	V840D	probably damaging	Het
Nadk2	A	C	15: 9,103,446 (GRCm39)	N308H	possibly damaging	Het
Ncoa7	T	C	10: 30,524,448 (GRCm39)	N823S	possibly damaging	Het
Nlk	T	A	11: 78,477,754 (GRCm39)	I330F	probably damaging	Het
Ofcc1	T	C	13: 40,360,100 (GRCm39)	S310G	possibly damaging	Het
Or5p57	T	C	7: 107,665,985 (GRCm39)	N7D	probably benign	Het
Or5p73	A	T	7: 108,064,947 (GRCm39)	M139L	probably benign	Het
Orc2	T	C	1: 58,510,247 (GRCm39)		probably null	Het
Orc3	A	G	4: 34,584,829 (GRCm39)	Y459H	probably damaging	Het
Pah	T	A	10: 87,364,190 (GRCm39)	N30K	possibly damaging	Het
Pcsk4	T	C	10: 80,164,794 (GRCm39)	K74E	probably benign	Het
Pdlim7	C	T	13: 55,653,981 (GRCm39)	G212D	probably benign	Het
Pfkm	A	G	15: 98,025,627 (GRCm39)	N547S	probably damaging	Het
Por	A	G	5: 135,763,128 (GRCm39)	E546G	probably damaging	Het
Ppp1r13l	T	C	7: 19,111,496 (GRCm39)	S774P	probably damaging	Het
Prdm1	T	A	10: 44,315,754 (GRCm39)	D794V	probably damaging	Het
Prdx5	A	G	19: 6,885,558 (GRCm39)	I32T	probably benign	Het
Prlhr	G	T	19: 60,455,932 (GRCm39)	C211*	probably null	Het
Ripk3	C	T	14: 56,025,694 (GRCm39)		probably null	Het
Rmnd5b	G	A	11: 51,518,465 (GRCm39)	A137V	probably damaging	Het
Rwdd2b	A	T	16: 87,234,013 (GRCm39)	F72I	probably benign	Het
Scml4	A	G	10: 42,788,223 (GRCm39)	Y51C	probably damaging	Het
Septin1	A	G	7: 126,813,937 (GRCm39)		probably benign	Het
Serpinb9h	C	T	13: 33,588,203 (GRCm39)	R263C	possibly damaging	Het
Slc30a10	T	A	1: 185,195,061 (GRCm39)	I291N	probably damaging	Het
Slc7a9	T	G	7: 35,152,827 (GRCm39)	C20W	possibly damaging	Het
Slc7a9	G	C	7: 35,152,828 (GRCm39)	A21P	probably damaging	Het
Slco1b2	A	T	6: 141,628,951 (GRCm39)	Y551F	probably damaging	Het
Sra1	T	C	18: 36,801,830 (GRCm39)	M87V	probably benign	Het
Syvn1	T	C	19: 6,099,257 (GRCm39)	S169P	possibly damaging	Het
Tmc7	A	T	7: 118,160,310 (GRCm39)	F176I	possibly damaging	Het
Tmem62	A	T	2: 120,817,151 (GRCm39)	I236F	probably damaging	Het
Trip4	T	A	9: 65,782,163 (GRCm39)	I190F	probably null	Het
Trpa1	T	C	1: 14,959,649 (GRCm39)	D679G	probably benign	Het
Ttc22	T	A	4: 106,494,063 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Tyrp1	T	A	4: 80,759,043 (GRCm39)		probably null	Het
Ubap2	C	T	4: 41,199,872 (GRCm39)	A752T	probably benign	Het
Usp36	A	T	11: 118,163,784 (GRCm39)	Y255N	probably damaging	Het
Zfp944	A	T	17: 22,558,960 (GRCm39)	Y96N	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
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

Predicted Primers

PCR Primer
(F):5'- TCTGATAACGATGTGGAAGGGTC -3'
(R):5'- CCCTGTAGAGAAGCCAAGTG -3'

Sequencing Primer
(F):5'- TAACGATGTGGAAGGGTCTGGTTTC -3'
(R):5'- AAGTGGCTCATGAGTGGCC -3'

Posted On

2014-06-30