Incidental Mutation 'IGL03352:Fcrl1'
ID 419766
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 # IGL03352
Quality Score
Status
Chromosome 3
Chromosomal Location 87283694-87310241 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87292398 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 150 (L150P)
Ref Sequence ENSEMBL: ENSMUSP00000130936 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072480] [ENSMUST00000163661] [ENSMUST00000167200] [ENSMUST00000191666] [ENSMUST00000194786]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000072480
AA Change: L130P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000072300
Gene: ENSMUSG00000059994
AA Change: L130P

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 benign
Transcript: ENSMUST00000163661
AA Change: L150P

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000130936
Gene: ENSMUSG00000059994
AA Change: L150P

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 benign
Transcript: ENSMUST00000167200
AA Change: L130P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000128235
Gene: ENSMUSG00000059994
AA Change: L130P

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 benign
Transcript: ENSMUST00000191666
AA Change: L130P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000141916
Gene: ENSMUSG00000059994
AA Change: L130P

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 benign
Transcript: ENSMUST00000194786
AA Change: L130P

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000142286
Gene: ENSMUSG00000059994
AA Change: L130P

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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aoah A G 13: 21,184,213 (GRCm39) S426G probably benign Het
Arap3 T C 18: 38,114,355 (GRCm39) probably benign Het
Arhgap45 T A 10: 79,866,585 (GRCm39) N1029K probably damaging Het
Arhgef10l A T 4: 140,311,242 (GRCm39) M1K probably null Het
Bloc1s6 T C 2: 122,584,638 (GRCm39) L71P probably damaging Het
Ccer1 G T 10: 97,529,439 (GRCm39) R34M unknown Het
Cd44 T C 2: 102,675,759 (GRCm39) probably benign Het
Col17a1 T C 19: 47,669,814 (GRCm39) probably null Het
Cspp1 A G 1: 10,117,662 (GRCm39) E38G possibly damaging Het
Dock10 A T 1: 80,584,013 (GRCm39) probably benign Het
Dsg3 A T 18: 20,660,689 (GRCm39) M343L probably benign Het
Eif3l G A 15: 78,961,251 (GRCm39) probably benign Het
Flg2 T G 3: 93,109,801 (GRCm39) S610A unknown Het
Grin3b C T 10: 79,809,615 (GRCm39) R374C probably damaging Het
H2-Oa A T 17: 34,313,377 (GRCm39) I143F probably damaging Het
Itgae C T 11: 73,022,556 (GRCm39) P924S probably damaging Het
Itpr2 T A 6: 146,058,602 (GRCm39) D2521V probably damaging Het
Itprid2 T A 2: 79,475,445 (GRCm39) M468K probably damaging Het
Laptm4a G A 12: 8,981,719 (GRCm39) G143D probably benign Het
Lrp6 T C 6: 134,456,726 (GRCm39) Y846C probably damaging Het
Mcm10 A T 2: 4,999,407 (GRCm39) S749T probably damaging Het
Nemf T C 12: 69,378,679 (GRCm39) N548D probably damaging Het
Nlrp4e T A 7: 23,020,251 (GRCm39) L246Q probably damaging Het
Nsun6 A T 2: 15,001,157 (GRCm39) C466* probably null Het
Olfm2 T C 9: 20,580,019 (GRCm39) D252G probably damaging Het
Or10j5 A C 1: 172,784,850 (GRCm39) M163L probably benign Het
Or14j9 T A 17: 37,874,681 (GRCm39) I174F probably damaging Het
Or2h1 G A 17: 37,404,311 (GRCm39) L152F probably benign Het
Or9i14 T C 19: 13,792,292 (GRCm39) I221V probably damaging Het
Pcdhb14 C T 18: 37,582,057 (GRCm39) R388C possibly damaging Het
Piwil1 C T 5: 128,828,136 (GRCm39) T712I probably benign Het
Piwil4 G T 9: 14,637,183 (GRCm39) T377K probably damaging Het
Prg3 T C 2: 84,823,370 (GRCm39) F182L probably damaging Het
Ptgds T C 2: 25,359,622 (GRCm39) T22A probably benign Het
Retsat T C 6: 72,575,666 (GRCm39) V19A probably damaging Het
Rpl21-ps4 A T 14: 11,227,760 (GRCm38) noncoding transcript Het
Sh3glb2 A G 2: 30,235,363 (GRCm39) V370A probably damaging Het
Skint4 G T 4: 112,022,883 (GRCm39) W459C possibly damaging Het
Slco1a1 T A 6: 141,857,611 (GRCm39) R573S probably benign Het
Smgc T C 15: 91,744,876 (GRCm39) S694P probably damaging Het
Spaca6 A G 17: 18,058,401 (GRCm39) Y7C probably damaging Het
Spn T C 7: 126,736,178 (GRCm39) T110A probably benign Het
Tepsin C T 11: 119,982,703 (GRCm39) V456I probably benign Het
Tex261 C T 6: 83,748,249 (GRCm39) R171Q possibly damaging Het
Tmem184a A T 5: 139,798,755 (GRCm39) F65I probably damaging Het
Tpm3 G A 3: 89,995,052 (GRCm39) probably null Het
Tubgcp2 T A 7: 139,580,940 (GRCm39) H671L probably benign Het
Unc13b T G 4: 43,237,110 (GRCm39) D3393E possibly damaging Het
Vcan T A 13: 89,853,125 (GRCm39) M612L probably benign Het
Vmn1r180 C A 7: 23,652,077 (GRCm39) S80* probably null Het
Vmn1r64 C T 7: 5,887,070 (GRCm39) V158I probably benign Het
Vps13d C T 4: 144,894,072 (GRCm39) V496I possibly damaging Het
Wee2 T G 6: 40,429,589 (GRCm39) probably null Het
Zfp804b T C 5: 6,820,039 (GRCm39) N972S probably benign 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 87,292,470 (GRCm39) missense probably damaging 1.00
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
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 2016-08-02