Incidental Mutation 'IGL02081:Scara5'
ID192578
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Scara5
Ensembl Gene ENSMUSG00000022032
Gene Namescavenger receptor class A, member 5
Synonyms4932433F15Rik, 4933425F03Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.073) question?
Stock #IGL02081
Quality Score
Status
Chromosome14
Chromosomal Location65666403-65764826 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 65730655 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Arginine at position 126 (W126R)
Ref Sequence ENSEMBL: ENSMUSP00000063391 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022610] [ENSMUST00000069226]
Predicted Effect possibly damaging
Transcript: ENSMUST00000022610
AA Change: W126R

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000022610
Gene: ENSMUSG00000022032
AA Change: W126R

DomainStartEndE-ValueType
transmembrane domain 60 82 N/A INTRINSIC
Pfam:Collagen 304 357 1.8e-8 PFAM
Pfam:Collagen 327 383 1.1e-8 PFAM
SR 389 489 5.5e-56 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000069226
AA Change: W126R

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000063391
Gene: ENSMUSG00000022032
AA Change: W126R

DomainStartEndE-ValueType
transmembrane domain 60 82 N/A INTRINSIC
Pfam:Collagen 304 360 1e-11 PFAM
Pfam:Collagen 329 386 1.9e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154373
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous deletion of this gene results in decreased male fertility and lymphocytic infiltration of the stroma of various tissues, particularly in the lungs. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a G T 8: 43,570,196 L86I probably damaging Het
Adamts17 C T 7: 67,062,110 R726C probably damaging Het
Aff1 A G 5: 103,834,305 K778R probably damaging Het
Agr2 G A 12: 35,995,656 probably null Het
Alms1 T A 6: 85,620,303 C1173S possibly damaging Het
Apol7b A G 15: 77,423,536 L253P possibly damaging Het
Atp10a A T 7: 58,827,856 T1268S possibly damaging Het
Atr A T 9: 95,883,205 K1149N probably damaging Het
Bri3bp G A 5: 125,441,897 probably null Het
Ccser1 T A 6: 61,311,168 L105* probably null Het
Cyp4a10 G A 4: 115,521,172 A152T possibly damaging Het
Dock2 C T 11: 34,254,355 D1396N probably benign Het
Ext1 A T 15: 53,073,446 Y634* probably null Het
Fbxo18 T C 2: 11,764,127 D285G probably benign Het
Gcn1l1 A G 5: 115,585,871 K529E probably damaging Het
H2-Q2 A G 17: 35,342,708 D58G probably damaging Het
Hid1 T C 11: 115,348,506 D776G possibly damaging Het
Il18r1 A T 1: 40,498,505 S477C probably damaging Het
Jmjd1c T G 10: 67,219,526 F242V probably benign Het
Krtap4-1 G A 11: 99,628,184 probably benign Het
Mms19 A G 19: 41,949,979 probably null Het
Mpdz T C 4: 81,335,869 T1009A probably damaging Het
Mrpl22 T C 11: 58,171,821 I19T probably benign Het
Mrvi1 T C 7: 110,924,074 probably null Het
Nup88 A G 11: 70,954,654 probably benign Het
Olfr1442 A T 19: 12,674,816 I204F probably benign Het
Pnpo T C 11: 96,939,324 Y183C probably damaging Het
Poln C T 5: 34,129,139 M228I probably benign Het
Scmh1 T G 4: 120,515,078 C359W probably damaging Het
Snrpn T C 7: 59,987,446 I41V possibly damaging Het
St8sia1 T C 6: 142,829,227 M209V probably benign Het
Stard9 T A 2: 120,664,910 S89T probably damaging Het
Tet1 T C 10: 62,813,818 T1667A probably damaging Het
Tmem217 C T 17: 29,526,373 G128S probably damaging Het
Ttpal A G 2: 163,615,388 N260S probably benign Het
Vwa2 A G 19: 56,902,236 D233G probably benign Het
Wdr83 A G 8: 85,075,843 F258L probably benign Het
Zfp277 A T 12: 40,328,796 L354* probably null Het
Zfp516 A G 18: 82,955,733 R19G probably benign Het
Other mutations in Scara5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00402:Scara5 APN 14 65738415 splice site probably benign
IGL00772:Scara5 APN 14 65670562 utr 5 prime probably benign
IGL01768:Scara5 APN 14 65689775 nonsense probably null
IGL02280:Scara5 APN 14 65730778 missense probably benign
IGL02795:Scara5 APN 14 65730680 missense possibly damaging 0.72
IGL02887:Scara5 APN 14 65762829 missense unknown
R0040:Scara5 UTSW 14 65762717 splice site probably benign
R0605:Scara5 UTSW 14 65759648 missense possibly damaging 0.85
R0735:Scara5 UTSW 14 65731019 missense possibly damaging 0.85
R0925:Scara5 UTSW 14 65762718 critical splice acceptor site probably benign
R1575:Scara5 UTSW 14 65730865 missense probably benign 0.18
R1746:Scara5 UTSW 14 65731090 missense probably benign
R1968:Scara5 UTSW 14 65689800 missense possibly damaging 0.73
R4455:Scara5 UTSW 14 65762747 missense probably benign 0.01
R4547:Scara5 UTSW 14 65670574 missense possibly damaging 0.72
R4779:Scara5 UTSW 14 65730749 missense probably benign 0.03
R5218:Scara5 UTSW 14 65759662 frame shift probably null
R5316:Scara5 UTSW 14 65689815 missense possibly damaging 0.73
R5331:Scara5 UTSW 14 65759662 frame shift probably null
R5332:Scara5 UTSW 14 65759662 frame shift probably null
R5366:Scara5 UTSW 14 65759662 frame shift probably null
R5367:Scara5 UTSW 14 65759662 frame shift probably null
R5368:Scara5 UTSW 14 65759662 frame shift probably null
R5369:Scara5 UTSW 14 65759662 frame shift probably null
R5417:Scara5 UTSW 14 65759662 frame shift probably null
R5418:Scara5 UTSW 14 65759662 frame shift probably null
R5420:Scara5 UTSW 14 65759662 frame shift probably null
R5447:Scara5 UTSW 14 65759662 frame shift probably null
R5473:Scara5 UTSW 14 65740339 missense possibly damaging 0.84
R5580:Scara5 UTSW 14 65731079 missense probably benign 0.02
R7734:Scara5 UTSW 14 65731151 missense possibly damaging 0.85
R7995:Scara5 UTSW 14 65759608 missense possibly damaging 0.53
Posted On2014-05-14