Incidental Mutation 'IGL02348:Mfap5'
ID 289358
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mfap5
Ensembl Gene ENSMUSG00000030116
Gene Name microfibrillar associated protein 5
Synonyms MAGP-2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # IGL02348
Quality Score
Status
Chromosome 6
Chromosomal Location 122490543-122506249 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 122503746 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 103 (S103R)
Ref Sequence ENSEMBL: ENSMUSP00000122863 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032210] [ENSMUST00000118626] [ENSMUST00000121656] [ENSMUST00000142896] [ENSMUST00000148517]
AlphaFold Q9QZJ6
Predicted Effect probably benign
Transcript: ENSMUST00000032210
AA Change: S91R

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000032210
Gene: ENSMUSG00000030116
AA Change: S91R

DomainStartEndE-ValueType
Pfam:MAGP 2 117 1.8e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118626
AA Change: S95R

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000113742
Gene: ENSMUSG00000030116
AA Change: S95R

DomainStartEndE-ValueType
Pfam:MAGP 2 121 3.5e-60 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121656
SMART Domains Protein: ENSMUSP00000112596
Gene: ENSMUSG00000030116

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:MAGP 31 69 8.5e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126357
Predicted Effect probably benign
Transcript: ENSMUST00000142896
AA Change: S91R

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000116769
Gene: ENSMUSG00000030116
AA Change: S91R

DomainStartEndE-ValueType
Pfam:MAGP 2 117 9.8e-57 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000148517
AA Change: S103R

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000122863
Gene: ENSMUSG00000030116
AA Change: S103R

DomainStartEndE-ValueType
Pfam:MAGP 3 129 1.3e-60 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 25-kD microfibril-associated glycoprotein which is a component of microfibrils of the extracellular matrix. The encoded protein promotes attachment of cells to microfibrils via alpha-V-beta-3 integrin. Deficiency of this gene in mice results in neutropenia. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased circulating neutrophils. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap12 G A 10: 4,304,722 (GRCm39) D511N probably damaging Het
Akt3 T A 1: 176,886,952 (GRCm39) D299V probably damaging Het
Arfgef3 G A 10: 18,467,095 (GRCm39) P2035L probably benign Het
Atp13a3 C T 16: 30,170,046 (GRCm39) probably null Het
Capn9 C A 8: 125,321,416 (GRCm39) P151T probably damaging Het
Csrnp1 T A 9: 119,801,709 (GRCm39) D450V probably damaging Het
Ctrb1 C T 8: 112,413,762 (GRCm39) A201T possibly damaging Het
Erp27 T C 6: 136,888,544 (GRCm39) T145A probably damaging Het
Fads2b T C 2: 85,323,640 (GRCm39) I298V possibly damaging Het
Fanca A T 8: 124,032,002 (GRCm39) L256Q probably damaging Het
Fars2 G A 13: 36,721,354 (GRCm39) V433I probably benign Het
Fbxo9 T A 9: 78,016,289 (GRCm39) M1L probably benign Het
Fcnb C A 2: 27,974,842 (GRCm39) V10F possibly damaging Het
Gad2 C T 2: 22,519,405 (GRCm39) H175Y probably damaging Het
Get4 G A 5: 139,238,254 (GRCm39) G12D probably benign Het
Gmpr2 T A 14: 55,915,758 (GRCm39) I312N probably damaging Het
Golm1 T A 13: 59,786,191 (GRCm39) M334L probably benign Het
Itgam T A 7: 127,715,472 (GRCm39) F1054L possibly damaging Het
Kcnk7 C A 19: 5,756,501 (GRCm39) probably benign Het
Kif3b G A 2: 153,158,813 (GRCm39) A205T probably damaging Het
Macf1 C T 4: 123,406,659 (GRCm39) V276M probably damaging Het
Mdga2 T A 12: 66,597,349 (GRCm39) N715I probably damaging Het
Nckap1 C T 2: 80,348,326 (GRCm39) V876M probably damaging Het
Ncor1 A T 11: 62,224,485 (GRCm39) probably benign Het
Nfya G A 17: 48,700,304 (GRCm39) Q122* probably null Het
Nup210l G A 3: 90,011,471 (GRCm39) probably benign Het
Or5h22 T G 16: 58,895,312 (GRCm39) I44L probably damaging Het
Pcdhb19 T A 18: 37,631,861 (GRCm39) L552Q probably damaging Het
Psmd2 T A 16: 20,473,397 (GRCm39) S153T probably benign Het
Ptpn4 T C 1: 119,610,452 (GRCm39) Y685C probably damaging Het
Rad54l2 T C 9: 106,597,575 (GRCm39) R144G probably damaging Het
S1pr4 A C 10: 81,334,855 (GRCm39) Y206* probably null Het
Slc39a14 A G 14: 70,553,885 (GRCm39) probably null Het
Stx2 G A 5: 129,065,894 (GRCm39) A254V probably damaging Het
Sumf2 G T 5: 129,888,711 (GRCm39) G216C probably damaging Het
Tbc1d32 A G 10: 56,100,715 (GRCm39) S88P probably benign Het
Trem1 T A 17: 48,539,824 (GRCm39) M1K probably null Het
Trmt1l T C 1: 151,325,757 (GRCm39) Y401H probably damaging Het
Ttc22 A T 4: 106,480,135 (GRCm39) M130L probably damaging Het
Wnk1 T C 6: 119,940,289 (GRCm39) E816G probably damaging Het
Wnt9b C T 11: 103,622,908 (GRCm39) G165D probably damaging Het
Zscan21 A G 5: 138,131,645 (GRCm39) T390A probably damaging Het
Zswim7 G T 11: 62,159,581 (GRCm39) C85* probably null Het
Other mutations in Mfap5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00647:Mfap5 APN 6 122,502,975 (GRCm39) missense probably damaging 0.97
R0094:Mfap5 UTSW 6 122,502,951 (GRCm39) missense probably damaging 0.98
R0094:Mfap5 UTSW 6 122,502,951 (GRCm39) missense probably damaging 0.98
R0827:Mfap5 UTSW 6 122,497,879 (GRCm39) missense probably damaging 0.98
R1279:Mfap5 UTSW 6 122,503,722 (GRCm39) splice site probably null
R2519:Mfap5 UTSW 6 122,502,948 (GRCm39) missense probably damaging 1.00
R5947:Mfap5 UTSW 6 122,502,945 (GRCm39) missense probably damaging 1.00
R6644:Mfap5 UTSW 6 122,497,555 (GRCm39) missense probably damaging 0.99
R7296:Mfap5 UTSW 6 122,505,381 (GRCm39) missense probably benign 0.01
R7479:Mfap5 UTSW 6 122,503,821 (GRCm39) critical splice donor site probably null
R7548:Mfap5 UTSW 6 122,502,993 (GRCm39) missense probably benign 0.07
R7820:Mfap5 UTSW 6 122,497,880 (GRCm39) missense probably damaging 0.99
R8270:Mfap5 UTSW 6 122,498,889 (GRCm39) critical splice donor site probably null
R9052:Mfap5 UTSW 6 122,501,463 (GRCm39) missense probably benign 0.37
X0064:Mfap5 UTSW 6 122,491,344 (GRCm39) missense probably null 0.12
Posted On 2015-04-16