Incidental Mutation 'IGL02231:Fcrl1'
ID 285687
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fcrl1
Ensembl Gene ENSMUSG00000059994
Gene Name Fc receptor-like 1
Synonyms Fcrh1, BXMAS1-like, IFGP1, moFcRH1L, moFcRH1S, A230020G22Rik, mBXMH1, moFcRH1, mIFGP1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02231
Quality Score
Status
Chromosome 3
Chromosomal Location 87376387-87402934 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 87385162 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 154 (E154K)
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 possibly damaging
Transcript: ENSMUST00000072480
AA Change: E154K

PolyPhen 2 Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000072300
Gene: ENSMUSG00000059994
AA Change: E154K

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 possibly damaging
Transcript: ENSMUST00000163661
AA Change: E174K

PolyPhen 2 Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000130936
Gene: ENSMUSG00000059994
AA Change: E174K

DomainStartEndE-ValueType
IG 48 133 4.03e-8 SMART
IG 143 224 1.35e0 SMART
transmembrane domain 241 263 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000167200
AA Change: E154K

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000128235
Gene: ENSMUSG00000059994
AA Change: E154K

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
IG 28 113 4.03e-8 SMART
IG 123 204 1.35e0 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000191666
AA Change: E154K

PolyPhen 2 Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000141916
Gene: ENSMUSG00000059994
AA Change: E154K

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 possibly damaging
Transcript: ENSMUST00000194786
AA Change: E154K

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000142286
Gene: ENSMUSG00000059994
AA Change: E154K

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
2610507B11Rik G A 11: 78,279,896 G1647D probably benign Het
Alcam T A 16: 52,274,050 probably benign Het
Alox15 A C 11: 70,349,556 D266E probably benign Het
Atcay A T 10: 81,210,548 V314E probably damaging Het
Atp8b1 C T 18: 64,550,384 G758R possibly damaging Het
Cacna2d4 T A 6: 119,277,908 probably benign Het
Celsr3 T C 9: 108,842,510 V2429A probably damaging Het
Clspn T G 4: 126,559,228 D11E probably damaging Het
Cnot3 A G 7: 3,658,210 T573A probably benign Het
Cyp2d34 A T 15: 82,618,606 S140T probably benign Het
Edem1 A G 6: 108,828,888 D50G probably benign Het
Emilin3 G A 2: 160,908,515 T438I probably damaging Het
Etfdh C T 3: 79,618,393 V173I probably damaging Het
Fat2 T C 11: 55,281,092 T2932A probably damaging Het
G3bp1 T A 11: 55,495,447 L244* probably null Het
Itgae A T 11: 73,090,622 K2M possibly damaging Het
Kcnq2 T C 2: 181,081,715 I654V probably benign Het
Ksr2 C T 5: 117,500,776 R82C probably damaging Het
Lrig3 A T 10: 125,997,172 D305V probably damaging Het
Me1 T C 9: 86,611,855 K322E possibly damaging Het
Med12l T A 3: 59,245,882 D1109E probably damaging Het
Mest A G 6: 30,740,773 K73E possibly damaging Het
Nup155 T G 15: 8,144,064 L881R probably damaging Het
Ocln A T 13: 100,541,114 S2T probably damaging Het
Oosp3 T C 19: 11,699,439 L54S probably damaging Het
Pkp3 G A 7: 141,084,238 E443K probably damaging Het
Plk2 T A 13: 110,400,069 C632S probably benign Het
Ptk6 C T 2: 181,197,001 V320I probably damaging Het
Ptprt A T 2: 162,238,060 I273N probably damaging Het
Ptprt A G 2: 162,278,046 probably null Het
Rab3gap2 T C 1: 185,266,898 probably benign Het
Rabgef1 G A 5: 130,211,975 A312T probably damaging Het
Rabl6 T A 2: 25,598,184 K109N probably benign Het
Rbp7 C T 4: 149,454,877 probably null Het
Reg3a C T 6: 78,382,241 H75Y possibly damaging Het
Rnf123 G T 9: 108,066,399 P546T probably benign Het
Rnmt C A 18: 68,314,081 C345* probably null Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Slc14a2 C T 18: 78,209,021 S25N possibly damaging Het
Spata16 G T 3: 26,913,264 G388W probably damaging Het
Speg C T 1: 75,423,387 R2493W probably damaging Het
Thada T A 17: 84,428,697 D970V probably damaging Het
Tmem184c A G 8: 77,604,812 Y103H probably damaging Het
Ttn A T 2: 76,798,096 D12827E probably damaging Het
Utp20 A G 10: 88,791,168 L976S probably damaging Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Zfp936 T A 7: 43,187,485 probably null Het
Other mutations in Fcrl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00321:Fcrl1 APN 3 87389635 missense probably damaging 0.99
IGL01884:Fcrl1 APN 3 87384737 missense probably damaging 1.00
IGL02029:Fcrl1 APN 3 87376487 utr 5 prime probably benign
IGL02231:Fcrl1 APN 3 87385163 missense probably damaging 1.00
IGL02405:Fcrl1 APN 3 87385767 missense probably damaging 0.99
IGL02858:Fcrl1 APN 3 87384705 missense probably damaging 1.00
IGL03133:Fcrl1 APN 3 87389392 missense probably benign 0.00
IGL03176:Fcrl1 APN 3 87391257 missense probably damaging 1.00
IGL03352:Fcrl1 APN 3 87385091 missense probably benign 0.01
R1497:Fcrl1 UTSW 3 87384802 missense probably damaging 1.00
R1569:Fcrl1 UTSW 3 87384705 missense probably damaging 1.00
R1581:Fcrl1 UTSW 3 87385723 missense possibly damaging 0.94
R1778:Fcrl1 UTSW 3 87385319 splice site probably benign
R1959:Fcrl1 UTSW 3 87376520 missense possibly damaging 0.92
R2928:Fcrl1 UTSW 3 87391257 missense probably benign 0.19
R4677:Fcrl1 UTSW 3 87390256 missense possibly damaging 0.61
R5122:Fcrl1 UTSW 3 87385774 missense probably benign 0.35
R5507:Fcrl1 UTSW 3 87391242 missense probably benign 0.16
R6363:Fcrl1 UTSW 3 87385168 missense probably damaging 0.96
R6478:Fcrl1 UTSW 3 87389639 missense probably benign 0.41
R6559:Fcrl1 UTSW 3 87391253 missense probably benign 0.33
R6985:Fcrl1 UTSW 3 87389650 missense probably benign
R7291:Fcrl1 UTSW 3 87385781 critical splice donor site probably null
R9649:Fcrl1 UTSW 3 87384611 missense possibly damaging 0.68
Z1177:Fcrl1 UTSW 3 87389363 missense probably damaging 1.00
Posted On 2015-04-16