Incidental Mutation 'R7820:Mfap5'
Institutional Source Beutler Lab
Gene Symbol Mfap5
Ensembl Gene ENSMUSG00000030116
Gene Namemicrofibrillar associated protein 5
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.084) question?
Stock #R7820 (G1)
Quality Score225.009
Status Validated
Chromosomal Location122505845-122529290 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 122520921 bp
Amino Acid Change Aspartic acid to Glutamic Acid at position 51 (D51E)
Ref Sequence ENSEMBL: ENSMUSP00000113742 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032210] [ENSMUST00000118626] [ENSMUST00000121656] [ENSMUST00000142896] [ENSMUST00000148517]
Predicted Effect probably damaging
Transcript: ENSMUST00000032210
AA Change: D51E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000032210
Gene: ENSMUSG00000030116
AA Change: D51E

Pfam:MAGP 2 117 1.8e-56 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000118626
AA Change: D51E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113742
Gene: ENSMUSG00000030116
AA Change: D51E

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

signal peptide 1 28 N/A INTRINSIC
Pfam:MAGP 31 69 8.5e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000142896
AA Change: D39E

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000116769
Gene: ENSMUSG00000030116
AA Change: D39E

Pfam:MAGP 2 117 9.8e-57 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000148517
AA Change: D51E

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000122863
Gene: ENSMUSG00000030116
AA Change: D51E

Pfam:MAGP 3 129 1.3e-60 PFAM
Meta Mutation Damage Score 0.6329 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 96% (49/51)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405O20Rik T A 7: 50,599,623 I135N probably benign Het
Abca14 A T 7: 120,212,721 N175I probably benign Het
Adam12 A G 7: 133,998,188 V99A probably benign Het
Ankfn1 G T 11: 89,421,130 P730T probably damaging Het
Arhgap21 A G 2: 20,863,172 S847P probably damaging Het
Cacna1i C T 15: 80,372,372 A989V probably benign Het
Cacnb2 T A 2: 14,960,666 N152K probably damaging Het
Chd3 A T 11: 69,353,238 Y1334N probably damaging Het
Clca4a A T 3: 144,960,671 D473E probably damaging Het
Crhr2 A C 6: 55,102,779 I191S probably damaging Het
E430018J23Rik A T 7: 127,391,436 W460R possibly damaging Het
Eef1akmt3 T C 10: 127,033,194 Q137R possibly damaging Het
Eml1 T C 12: 108,515,174 I432T possibly damaging Het
Fcgbp A G 7: 28,120,359 T2504A probably benign Het
Hmgxb4 G T 8: 75,000,946 E186* probably null Het
Ighv16-1 T C 12: 114,068,969 N71S probably benign Het
Kif2b A G 11: 91,577,274 V61A probably benign Het
Map1b C T 13: 99,431,177 G1679R unknown Het
Mast4 G A 13: 102,754,088 S1086L probably damaging Het
Mcm8 A G 2: 132,840,772 E724G possibly damaging Het
Mon1a T C 9: 107,901,312 L245P probably damaging Het
Mtx1 G T 3: 89,214,008 H106Q probably benign Het
Naip1 G A 13: 100,423,070 S1142F probably benign Het
Ngp A G 9: 110,420,864 T77A probably benign Het
Oca2 A T 7: 56,331,965 I612F probably damaging Het
Odf3 A C 7: 140,849,263 T128P probably benign Het
Olfr1224-ps1 T A 2: 89,156,248 D309V probably benign Het
Olfr147 A T 9: 38,403,566 I228F probably damaging Het
Olfr96 A T 17: 37,225,895 M257L probably benign Het
Otop3 T A 11: 115,339,588 V97D probably damaging Het
Ovgp1 A G 3: 105,986,521 probably benign Het
Pdc T C 1: 150,333,270 I168T probably damaging Het
Plekha7 A T 7: 116,237,480 F18I probably benign Het
Plppr4 A G 3: 117,321,949 I753T possibly damaging Het
Pms2 T G 5: 143,914,633 S123A possibly damaging Het
Pou4f2 T A 8: 78,436,502 probably benign Het
Ptch1 A T 13: 63,523,061 L885Q probably damaging Het
Repin1 G T 6: 48,597,345 E403* probably null Het
Rgs11 T A 17: 26,205,195 probably null Het
Samd3 T A 10: 26,233,518 probably null Het
Slit3 A G 11: 35,700,408 D1349G probably benign Het
Sorbs2 A T 8: 45,796,556 Q868L probably null Het
Speer4f1 T A 5: 17,479,530 S185R probably damaging Het
Spin2f A G X: 31,254,699 K28R probably benign Het
Tas2r125 T G 6: 132,909,878 I76M probably benign Het
Tex15 A T 8: 33,575,062 I1507F probably damaging Het
Tmem2 C T 19: 21,807,461 A436V probably damaging Het
Vmn1r215 A T 13: 23,076,545 I252F probably damaging Het
Vmn1r71 A G 7: 10,748,725 F12S possibly damaging Het
Zfp128 A G 7: 12,891,022 Y439C probably benign Het
Other mutations in Mfap5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00647:Mfap5 APN 6 122526016 missense probably damaging 0.97
IGL02348:Mfap5 APN 6 122526787 missense possibly damaging 0.95
R0094:Mfap5 UTSW 6 122525992 missense probably damaging 0.98
R0094:Mfap5 UTSW 6 122525992 missense probably damaging 0.98
R0827:Mfap5 UTSW 6 122520920 missense probably damaging 0.98
R1279:Mfap5 UTSW 6 122526763 splice site probably null
R2519:Mfap5 UTSW 6 122525989 missense probably damaging 1.00
R5947:Mfap5 UTSW 6 122525986 missense probably damaging 1.00
R6644:Mfap5 UTSW 6 122520596 missense probably damaging 0.99
R7296:Mfap5 UTSW 6 122528422 missense probably benign 0.01
R7479:Mfap5 UTSW 6 122526862 critical splice donor site probably null
R7548:Mfap5 UTSW 6 122526034 missense probably benign 0.07
R8270:Mfap5 UTSW 6 122521930 critical splice donor site probably null
X0064:Mfap5 UTSW 6 122514385 missense probably null 0.12
Predicted Primers PCR Primer

Sequencing Primer
Posted On2019-12-03