Incidental Mutation 'R9138:Mfrp'
ID 694157
Institutional Source Beutler Lab
Gene Symbol Mfrp
Ensembl Gene ENSMUSG00000034739
Gene Name membrane frizzled-related protein
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.202) question?
Stock # R9138 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 44013067-44020484 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44017673 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 555 (Q555R)
Ref Sequence ENSEMBL: ENSMUSP00000034654 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034654] [ENSMUST00000056328] [ENSMUST00000065379] [ENSMUST00000114815] [ENSMUST00000114816] [ENSMUST00000114818] [ENSMUST00000114821] [ENSMUST00000152956] [ENSMUST00000161381] [ENSMUST00000161703] [ENSMUST00000162126] [ENSMUST00000185479] [ENSMUST00000205282] [ENSMUST00000205500] [ENSMUST00000206295] [ENSMUST00000206308] [ENSMUST00000206769] [ENSMUST00000215685] [ENSMUST00000216511]
AlphaFold Q8K480
Predicted Effect possibly damaging
Transcript: ENSMUST00000034654
AA Change: Q555R

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000034654
Gene: ENSMUSG00000034739
AA Change: Q555R

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: ENSMUST00000056328
SMART Domains Protein: ENSMUSP00000110478
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: 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: ENSMUST00000114815
SMART Domains Protein: ENSMUSP00000110463
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: 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: ENSMUST00000152956
SMART Domains Protein: ENSMUSP00000123040
Gene: ENSMUSG00000079592

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
RING 11 52 1.57e-2 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000161381
AA Change: Q549R

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000124456
Gene: ENSMUSG00000034739
AA Change: Q549R

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 probably benign
Transcript: ENSMUST00000161703
SMART Domains Protein: ENSMUSP00000125053
Gene: ENSMUSG00000034739

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 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
Predicted Effect probably benign
Transcript: ENSMUST00000205282
Predicted Effect probably benign
Transcript: ENSMUST00000205500
Predicted Effect probably benign
Transcript: ENSMUST00000206295
Predicted Effect probably damaging
Transcript: ENSMUST00000206308
AA Change: Q555R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect
Predicted Effect probably benign
Transcript: ENSMUST00000206769
Predicted Effect probably benign
Transcript: ENSMUST00000215685
Predicted Effect probably benign
Transcript: ENSMUST00000216511
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 T C 5: 124,228,176 (GRCm39) T22A possibly damaging Het
Adgre5 A T 8: 84,452,563 (GRCm39) N502K probably benign Het
Ago4 T A 4: 126,414,073 (GRCm39) K73* probably null Het
Angpt2 T C 8: 18,764,162 (GRCm39) I127V probably benign Het
Ankhd1 TGGCGGCGGCGGCGGCGGCGGCGGC TGGCGGCGGCGGCGGCGGCGGC 18: 36,693,961 (GRCm39) probably benign Het
Ap4b1 T A 3: 103,722,626 (GRCm39) I368N probably damaging Het
Arhgap5 A G 12: 52,609,146 (GRCm39) I1374V probably benign Het
B3galt9 T C 2: 34,728,920 (GRCm39) Y240H probably damaging Het
Bltp3b T A 10: 89,615,738 (GRCm39) V127D probably damaging Het
Caln1 T C 5: 130,698,449 (GRCm39) L157P probably damaging Het
Cdh9 G T 15: 16,823,273 (GRCm39) G85V probably damaging Het
Chrna4 A G 2: 180,670,775 (GRCm39) V327A probably damaging Het
Col11a2 T C 17: 34,279,847 (GRCm39) S1156P Het
Cps1 G A 1: 67,254,569 (GRCm39) V1253M probably damaging Het
Crb1 T C 1: 139,162,468 (GRCm39) E1291G Het
Dab1 A T 4: 104,588,929 (GRCm39) K518* probably null Het
Ddias A T 7: 92,507,608 (GRCm39) I769N possibly damaging Het
Dlg5 G T 14: 24,295,376 (GRCm39) A48E probably damaging Het
Dok1 G T 6: 83,009,806 (GRCm39) A101E probably damaging Het
Dpf2 T C 19: 5,948,593 (GRCm39) N389S probably benign Het
Evi5l T A 8: 4,233,582 (GRCm39) S22T probably benign Het
Garin5b A G 7: 4,773,406 (GRCm39) F137S Het
Gm5431 T A 11: 48,780,498 (GRCm39) R141S probably benign Het
Gmds A T 13: 32,311,035 (GRCm39) Y197* probably null Het
Gprc5a T A 6: 135,056,164 (GRCm39) S204T probably damaging Het
H2bc1 T C 13: 24,118,112 (GRCm39) T10A probably benign Het
Hoxd12 T A 2: 74,505,902 (GRCm39) S158T probably benign Het
Idh2 GGTCCCAG GG 7: 79,748,077 (GRCm39) probably benign Het
Idh2 TCCCAGGGCC TCC 7: 79,748,079 (GRCm39) probably null Het
Il18rap C T 1: 40,582,177 (GRCm39) T366M probably benign Het
Kif16b C A 2: 142,542,476 (GRCm39) E273D Het
Lct T C 1: 128,227,894 (GRCm39) I1200V probably benign Het
Lrrfip1 T A 1: 91,038,080 (GRCm39) L398I probably damaging Het
Mcm4 T C 16: 15,447,200 (GRCm39) E588G probably damaging Het
Mdga2 C T 12: 66,615,663 (GRCm39) G648D possibly damaging Het
Mtf1 C T 4: 124,732,510 (GRCm39) Q523* probably null Het
Naf1 A G 8: 67,317,198 (GRCm39) D230G possibly damaging Het
Nbeal1 G T 1: 60,286,904 (GRCm39) E909* probably null Het
Nxt1 C A 2: 148,517,572 (GRCm39) N104K probably benign Het
Ocstamp T A 2: 165,237,864 (GRCm39) T467S probably benign Het
Or1j19 A G 2: 36,676,702 (GRCm39) H55R probably benign Het
Or4n4b T C 14: 50,536,494 (GRCm39) I91V probably benign Het
Or5b123 T A 19: 13,596,658 (GRCm39) M44K probably damaging Het
Pcdhgc5 A C 18: 37,953,892 (GRCm39) T389P probably benign Het
Peak1 A T 9: 56,164,925 (GRCm39) V1001E probably benign Het
Phf11d C A 14: 59,602,833 (GRCm39) C9F probably benign Het
Pkd1l2 T A 8: 117,781,748 (GRCm39) T766S probably benign Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Psg20 A T 7: 18,418,595 (GRCm39) N57K Het
Ptpro T A 6: 137,388,113 (GRCm39) probably null Het
Rasa1 T C 13: 85,369,635 (GRCm39) I896V possibly damaging Het
Rasa4 T C 5: 136,131,455 (GRCm39) L483P possibly damaging Het
Septin7 A G 9: 25,212,761 (GRCm39) Y309C probably damaging Het
Sertad2 A T 11: 20,598,425 (GRCm39) E207V probably benign Het
Slco3a1 A T 7: 74,009,664 (GRCm39) I217N probably damaging Het
Son C T 16: 91,452,006 (GRCm39) T251I possibly damaging Het
Spata31e2 C T 1: 26,721,253 (GRCm39) C1309Y possibly damaging Het
Spen T C 4: 141,196,797 (GRCm39) D3566G probably damaging Het
Stag1 T C 9: 100,829,335 (GRCm39) V1089A probably benign Het
Taf2 GCTTCTTCTTCTTCTTCTT GCTTCTTCTTCTTCTT 15: 54,879,857 (GRCm39) probably benign Het
Tax1bp1 A G 6: 52,718,958 (GRCm39) E354G probably damaging Het
Timd6 A T 11: 46,468,126 (GRCm39) T67S probably damaging Het
Tmem63c T C 12: 87,128,601 (GRCm39) F542S probably damaging Het
Trav12-2 T C 14: 53,854,178 (GRCm39) S51P probably benign Het
Upf2 T A 2: 6,028,132 (GRCm39) D739E unknown Het
Vmn1r193 A T 13: 22,403,844 (GRCm39) H49Q probably damaging Het
Vmn2r11 T C 5: 109,201,904 (GRCm39) D200G probably damaging Het
Vmn2r114 C A 17: 23,510,578 (GRCm39) C634F probably damaging Het
Zfp444 A G 7: 6,192,690 (GRCm39) H236R probably damaging Het
Zfp712 A G 13: 67,189,318 (GRCm39) L403P probably damaging Het
Zmpste24 T G 4: 120,923,018 (GRCm39) Y399S probably damaging 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
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
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'- GCAGAATCCCTTATCCAGGC -3'

Sequencing Primer
(F):5'- GGACACCTGATGTTCATCTTTC -3'
(R):5'- ATCCAGGCCACCCTTGC -3'
Posted On 2022-01-20