Incidental Mutation 'R5041:Mfrp'
ID 393218
Institutional Source Beutler Lab
Gene Symbol Mfrp
Ensembl Gene ENSMUSG00000034739
Gene Name membrane frizzled-related protein
Synonyms
MMRRC Submission 042631-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.202) question?
Stock # R5041 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 44013067-44020484 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44013575 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 62 (D62G)
Ref Sequence ENSEMBL: ENSMUSP00000145676 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034654] [ENSMUST00000065379] [ENSMUST00000114816] [ENSMUST00000114818] [ENSMUST00000114821] [ENSMUST00000161381] [ENSMUST00000161703] [ENSMUST00000205282] [ENSMUST00000206308] [ENSMUST00000162126] [ENSMUST00000185479]
AlphaFold Q8K480
Predicted Effect probably damaging
Transcript: ENSMUST00000034654
AA Change: D62G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034654
Gene: ENSMUSG00000034739
AA Change: D62G

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: ENSMUST00000114816
SMART Domains Protein: ENSMUSP00000110464
Gene: ENSMUSG00000079592

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: ENSMUST00000160985
SMART Domains Protein: ENSMUSP00000124568
Gene: ENSMUSG00000053128

DomainStartEndE-ValueType
RING 11 52 1.57e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000161381
AA Change: D62G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124456
Gene: ENSMUSG00000034739
AA Change: D62G

DomainStartEndE-ValueType
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 unknown
Transcript: ENSMUST00000161703
AA Change: D62G
SMART Domains Protein: ENSMUSP00000125053
Gene: ENSMUSG00000034739
AA Change: D62G

DomainStartEndE-ValueType
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 unknown
Transcript: ENSMUST00000205282
AA Change: T28A
Predicted Effect probably damaging
Transcript: ENSMUST00000206308
AA Change: D62G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162196
Predicted Effect probably benign
Transcript: ENSMUST00000206722
Predicted Effect probably benign
Transcript: ENSMUST00000162126
SMART Domains Protein: ENSMUSP00000123938
Gene: ENSMUSG00000111409

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 0.3270 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.5%
Validation Efficiency 98% (42/43)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg7 A G 16: 56,550,711 (GRCm39) F667S probably benign Het
Akna A G 4: 63,305,381 (GRCm39) Y462H possibly damaging Het
Anxa11 G T 14: 25,875,188 (GRCm39) E278* probably null Het
Ap3s2 T C 7: 79,570,267 (GRCm39) Y20C probably benign Het
Atxn7 T C 14: 14,096,317 (GRCm38) probably null Het
AW551984 T C 9: 39,511,894 (GRCm39) Y39C probably damaging Het
Becn1 A T 11: 101,179,662 (GRCm39) S442T probably benign Het
Bhlhe40 C T 6: 108,639,546 (GRCm39) T108I probably damaging Het
Cnst A G 1: 179,432,593 (GRCm39) D252G probably damaging Het
Cpxm1 A G 2: 130,235,990 (GRCm39) S391P probably damaging Het
Ctnna2 T A 6: 76,892,746 (GRCm39) N814Y probably damaging Het
Ddx3y T A Y: 1,266,611 (GRCm39) Y282F probably benign Het
Ddx56 A G 11: 6,214,178 (GRCm39) V357A probably damaging Het
Frmpd1 T G 4: 45,278,878 (GRCm39) C534W probably damaging Het
Gimap8 A G 6: 48,636,097 (GRCm39) N621D probably damaging Het
Herc1 T A 9: 66,336,327 (GRCm39) I1624N possibly damaging Het
Htr7 A C 19: 36,034,467 (GRCm39) W63G probably benign Het
Ly6g6c T A 17: 35,284,428 (GRCm39) probably null Het
Macf1 T C 4: 123,290,839 (GRCm39) probably null Het
Ncam1 T C 9: 49,478,085 (GRCm39) Y173C probably damaging Het
Nwd1 T C 8: 73,431,683 (GRCm39) V1185A possibly damaging Het
Or4c113 A T 2: 88,885,265 (GRCm39) C168* probably null Het
Or51h7 T C 7: 102,591,785 (GRCm39) probably null Het
Pcf11 G A 7: 92,307,613 (GRCm39) P852S probably benign Het
Pramel25 T C 4: 143,520,260 (GRCm39) V4A probably benign Het
Ralgapa2 T C 2: 146,327,071 (GRCm39) I63V probably benign Het
Rsf1 GCGGCGGCG GCGGCGGCGTCGGCGGCG 7: 97,229,132 (GRCm39) probably benign Het
Rubcnl T C 14: 75,287,572 (GRCm39) F619L probably damaging Het
Sec24d A T 3: 123,087,880 (GRCm39) Q247L probably damaging Het
Spmap2l A G 5: 77,203,928 (GRCm39) T319A probably benign Het
Spns3 G T 11: 72,427,373 (GRCm39) Q306K possibly damaging Het
Sstr1 T C 12: 58,259,941 (GRCm39) V188A possibly damaging Het
Supt5 A T 7: 28,014,805 (GRCm39) L1024Q probably damaging Het
Tent4b CCCAACAACGCCAACAA CCCAACAA 8: 88,981,878 (GRCm39) probably benign Het
Unc13b T A 4: 43,237,836 (GRCm39) H3452Q probably benign Het
Usp28 A G 9: 48,949,073 (GRCm39) Q864R probably benign Het
Vmn2r43 T C 7: 8,247,806 (GRCm39) T786A probably damaging Het
Yy1 TCACCACCACCACCACCACCACCACCACC TCACCACCACCACCACCACCACCACCACCACC 12: 108,759,557 (GRCm39) probably benign Het
Other mutations in Mfrp
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- TAATCCTGCTTTCGACCCGG -3'
(R):5'- ATAGAGGAATGTCATTTTGGGGAGC -3'

Sequencing Primer
(F):5'- CCAGCGTTACAGAGGGATGTC -3'
(R):5'- CATTTTGGGGAGCAGGTTCC -3'
Posted On 2016-06-15