Incidental Mutation 'IGL02231:Fcrl1'
ID 285688
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fcrl1
Ensembl Gene ENSMUSG00000059994
Gene Name Fc receptor-like 1
Synonyms mBXMH1, A230020G22Rik, IFGP1, moFcRH1L, moFcRH1, Fcrh1, BXMAS1-like, moFcRH1S, mIFGP1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02231
Quality Score
Status
Chromosome 3
Chromosomal Location 87283694-87310241 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 87292470 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 154 (E154V)
Ref Sequence ENSEMBL: ENSMUSP00000128235 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072480] [ENSMUST00000163661] [ENSMUST00000167200] [ENSMUST00000191666] [ENSMUST00000194786]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000072480
AA Change: E154V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000072300
Gene: ENSMUSG00000059994
AA Change: E154V

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
IG 28 113 4.03e-8 SMART
IG 123 204 1.35e0 SMART
transmembrane domain 221 243 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000163661
AA Change: E174V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000130936
Gene: ENSMUSG00000059994
AA Change: E174V

DomainStartEndE-ValueType
IG 48 133 4.03e-8 SMART
IG 143 224 1.35e0 SMART
transmembrane domain 241 263 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000167200
AA Change: E154V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128235
Gene: ENSMUSG00000059994
AA Change: E154V

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
IG 28 113 4.03e-8 SMART
IG 123 204 1.35e0 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000191666
AA Change: E154V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141916
Gene: ENSMUSG00000059994
AA Change: E154V

DomainStartEndE-ValueType
IG_like 9 94 4.5e-2 SMART
IG 28 113 1.7e-10 SMART
IG 123 204 5.5e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193854
Predicted Effect probably damaging
Transcript: ENSMUST00000194786
AA Change: E154V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000142286
Gene: ENSMUSG00000059994
AA Change: E154V

DomainStartEndE-ValueType
IG_like 9 94 4.5e-2 SMART
IG 28 113 1.7e-10 SMART
IG 123 204 5.5e-3 SMART
transmembrane domain 221 243 N/A INTRINSIC
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 member of the immunoglobulin receptor superfamily and is one of several Fc receptor-like glycoproteins clustered on the long arm of chromosome 1. The encoded protein contains three extracellular C2-like immunoglobulin domains, a transmembrane domain and a cytoplasmic domain with two immunoreceptor-tyrosine activation motifs. This protein may play a role in the regulation of cancer cell growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alcam T A 16: 52,094,413 (GRCm39) probably benign Het
Alox15 A C 11: 70,240,382 (GRCm39) D266E probably benign Het
Atcay A T 10: 81,046,382 (GRCm39) V314E probably damaging Het
Atp8b1 C T 18: 64,683,455 (GRCm39) G758R possibly damaging Het
Bltp2 G A 11: 78,170,722 (GRCm39) G1647D probably benign Het
Cacna2d4 T A 6: 119,254,869 (GRCm39) probably benign Het
Celsr3 T C 9: 108,719,709 (GRCm39) V2429A probably damaging Het
Clspn T G 4: 126,453,021 (GRCm39) D11E probably damaging Het
Cnot3 A G 7: 3,661,209 (GRCm39) T573A probably benign Het
Cyp2d34 A T 15: 82,502,807 (GRCm39) S140T probably benign Het
Edem1 A G 6: 108,805,849 (GRCm39) D50G probably benign Het
Emilin3 G A 2: 160,750,435 (GRCm39) T438I probably damaging Het
Etfdh C T 3: 79,525,700 (GRCm39) V173I probably damaging Het
Fat2 T C 11: 55,171,918 (GRCm39) T2932A probably damaging Het
G3bp1 T A 11: 55,386,273 (GRCm39) L244* probably null Het
Itgae A T 11: 72,981,448 (GRCm39) K2M possibly damaging Het
Kcnq2 T C 2: 180,723,508 (GRCm39) I654V probably benign Het
Ksr2 C T 5: 117,638,841 (GRCm39) R82C probably damaging Het
Lrig3 A T 10: 125,833,041 (GRCm39) D305V probably damaging Het
Me1 T C 9: 86,493,908 (GRCm39) K322E possibly damaging Het
Med12l T A 3: 59,153,303 (GRCm39) D1109E probably damaging Het
Mest A G 6: 30,740,772 (GRCm39) K73E possibly damaging Het
Nup155 T G 15: 8,173,548 (GRCm39) L881R probably damaging Het
Ocln A T 13: 100,677,622 (GRCm39) S2T probably damaging Het
Oosp3 T C 19: 11,676,803 (GRCm39) L54S probably damaging Het
Pkp3 G A 7: 140,664,151 (GRCm39) E443K probably damaging Het
Plk2 T A 13: 110,536,603 (GRCm39) C632S probably benign Het
Ptk6 C T 2: 180,838,794 (GRCm39) V320I probably damaging Het
Ptprt A T 2: 162,079,980 (GRCm39) I273N probably damaging Het
Ptprt A G 2: 162,119,966 (GRCm39) probably null Het
Rab3gap2 T C 1: 184,999,095 (GRCm39) probably benign Het
Rabgef1 G A 5: 130,240,816 (GRCm39) A312T probably damaging Het
Rabl6 T A 2: 25,488,196 (GRCm39) K109N probably benign Het
Rbp7 C T 4: 149,539,334 (GRCm39) probably null Het
Reg3a C T 6: 78,359,224 (GRCm39) H75Y possibly damaging Het
Rnf123 G T 9: 107,943,598 (GRCm39) P546T probably benign Het
Rnmt C A 18: 68,447,152 (GRCm39) C345* probably null Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Slc14a2 C T 18: 78,252,236 (GRCm39) S25N possibly damaging Het
Spata16 G T 3: 26,967,413 (GRCm39) G388W probably damaging Het
Speg C T 1: 75,400,031 (GRCm39) R2493W probably damaging Het
Thada T A 17: 84,736,125 (GRCm39) D970V probably damaging Het
Tmem184c A G 8: 78,331,441 (GRCm39) Y103H probably damaging Het
Ttn A T 2: 76,628,440 (GRCm39) D12827E probably damaging Het
Utp20 A G 10: 88,627,030 (GRCm39) L976S probably damaging Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Zfp936 T A 7: 42,836,909 (GRCm39) probably null Het
Other mutations in Fcrl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00321:Fcrl1 APN 3 87,296,942 (GRCm39) missense probably damaging 0.99
IGL01884:Fcrl1 APN 3 87,292,044 (GRCm39) missense probably damaging 1.00
IGL02029:Fcrl1 APN 3 87,283,794 (GRCm39) utr 5 prime probably benign
IGL02231:Fcrl1 APN 3 87,292,469 (GRCm39) missense possibly damaging 0.94
IGL02405:Fcrl1 APN 3 87,293,074 (GRCm39) missense probably damaging 0.99
IGL02858:Fcrl1 APN 3 87,292,012 (GRCm39) missense probably damaging 1.00
IGL03133:Fcrl1 APN 3 87,296,699 (GRCm39) missense probably benign 0.00
IGL03176:Fcrl1 APN 3 87,298,564 (GRCm39) missense probably damaging 1.00
IGL03352:Fcrl1 APN 3 87,292,398 (GRCm39) missense probably benign 0.01
R1497:Fcrl1 UTSW 3 87,292,109 (GRCm39) missense probably damaging 1.00
R1569:Fcrl1 UTSW 3 87,292,012 (GRCm39) missense probably damaging 1.00
R1581:Fcrl1 UTSW 3 87,293,030 (GRCm39) missense possibly damaging 0.94
R1778:Fcrl1 UTSW 3 87,292,626 (GRCm39) splice site probably benign
R1959:Fcrl1 UTSW 3 87,283,827 (GRCm39) missense possibly damaging 0.92
R2928:Fcrl1 UTSW 3 87,298,564 (GRCm39) missense probably benign 0.19
R4677:Fcrl1 UTSW 3 87,297,563 (GRCm39) missense possibly damaging 0.61
R5122:Fcrl1 UTSW 3 87,293,081 (GRCm39) missense probably benign 0.35
R5507:Fcrl1 UTSW 3 87,298,549 (GRCm39) missense probably benign 0.16
R6363:Fcrl1 UTSW 3 87,292,475 (GRCm39) missense probably damaging 0.96
R6478:Fcrl1 UTSW 3 87,296,946 (GRCm39) missense probably benign 0.41
R6559:Fcrl1 UTSW 3 87,298,560 (GRCm39) missense probably benign 0.33
R6985:Fcrl1 UTSW 3 87,296,957 (GRCm39) missense probably benign
R7291:Fcrl1 UTSW 3 87,293,088 (GRCm39) critical splice donor site probably null
R9649:Fcrl1 UTSW 3 87,291,918 (GRCm39) missense possibly damaging 0.68
Z1177:Fcrl1 UTSW 3 87,296,670 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16