Incidental Mutation 'R1581:Fcrl1'
ID 171381
Institutional Source Beutler Lab
Gene Symbol Fcrl1
Ensembl Gene ENSMUSG00000059994
Gene Name Fc receptor-like 1
Synonyms mBXMH1, A230020G22Rik, IFGP1, moFcRH1L, moFcRH1, Fcrh1, BXMAS1-like, moFcRH1S, mIFGP1
MMRRC Submission 039618-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1581 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 87283694-87310241 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 87293030 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 249 (C249Y)
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 possibly damaging
Transcript: ENSMUST00000072480
AA Change: C229Y

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000072300
Gene: ENSMUSG00000059994
AA Change: C229Y

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: C249Y

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000130936
Gene: ENSMUSG00000059994
AA Change: C249Y

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
SMART Domains Protein: ENSMUSP00000128235
Gene: ENSMUSG00000059994

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
SMART Domains Protein: ENSMUSP00000141916
Gene: ENSMUSG00000059994

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: C229Y

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000142286
Gene: ENSMUSG00000059994
AA Change: C229Y

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
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.2%
  • 20x: 92.6%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 T C 15: 91,063,347 (GRCm39) E447G probably benign Het
Actn4 T C 7: 28,598,071 (GRCm39) T510A probably benign Het
Adgrb3 A G 1: 25,133,153 (GRCm39) M1311T possibly damaging Het
Arfgef1 C T 1: 10,270,103 (GRCm39) A349T probably benign Het
Auh G A 13: 52,989,532 (GRCm39) P308L probably benign Het
Bicdl1 G T 5: 115,789,326 (GRCm39) probably benign Het
Bmyc T C 2: 25,597,346 (GRCm39) S137P probably damaging Het
Camsap3 C T 8: 3,654,708 (GRCm39) R782C probably damaging Het
Casc3 C T 11: 98,713,644 (GRCm39) T292I possibly damaging Het
Chmp7 C T 14: 69,956,899 (GRCm39) M336I probably benign Het
Cibar1 T A 4: 12,155,745 (GRCm39) probably null Het
Cnnm2 A G 19: 46,751,562 (GRCm39) T451A probably damaging Het
Eed T C 7: 89,629,676 (GRCm39) K20E possibly damaging Het
Eps15 T A 4: 109,220,383 (GRCm39) M180K probably benign Het
Esr1 T C 10: 4,947,905 (GRCm39) I486T probably damaging Het
Etnppl A G 3: 130,422,393 (GRCm39) I207V possibly damaging Het
Fancg G A 4: 43,007,039 (GRCm39) P246L probably damaging Het
Foxred2 A G 15: 77,839,961 (GRCm39) F110L possibly damaging Het
Fsip2 A T 2: 82,816,626 (GRCm39) N4120Y probably damaging Het
Gm4884 C T 7: 40,693,255 (GRCm39) S408L probably benign Het
Gm9476 T C 10: 100,142,474 (GRCm39) noncoding transcript Het
Gria1 T C 11: 57,127,836 (GRCm39) probably null Het
H6pd T A 4: 150,066,971 (GRCm39) I472F possibly damaging Het
Hydin A T 8: 111,137,092 (GRCm39) M632L probably benign Het
Hyou1 C T 9: 44,300,167 (GRCm39) P819S probably damaging Het
Il6st A G 13: 112,618,075 (GRCm39) E163G probably damaging Het
Kcnk1 T C 8: 126,722,278 (GRCm39) V27A possibly damaging Het
Kdelr3 T C 15: 79,407,114 (GRCm39) probably null Het
Klk1b22 A G 7: 43,765,399 (GRCm39) N117S possibly damaging Het
Klrh1 T C 6: 129,752,796 (GRCm39) D3G probably benign Het
Lpp C A 16: 24,500,591 (GRCm39) C134* probably null Het
Lrrc37a G A 11: 103,347,843 (GRCm39) R2951* probably null Het
Luzp2 T A 7: 54,899,238 (GRCm39) D285E possibly damaging Het
Ly75 C T 2: 60,158,237 (GRCm39) R1016H probably damaging Het
Mesp2 T A 7: 79,462,289 (GRCm39) S282T possibly damaging Het
Nav3 T C 10: 109,659,289 (GRCm39) D776G probably damaging Het
Nr2e1 T C 10: 42,443,964 (GRCm39) T253A probably benign Het
Nup214 C T 2: 31,924,478 (GRCm39) S1669F probably damaging Het
Or1r1 A T 11: 73,875,347 (GRCm39) L29H probably damaging Het
Padi6 T C 4: 140,463,147 (GRCm39) Y146C probably damaging Het
Pank4 C T 4: 155,059,108 (GRCm39) R414W probably damaging Het
Pclo T G 5: 14,571,296 (GRCm39) I227S probably benign Het
Plppr4 A G 3: 117,121,915 (GRCm39) V221A possibly damaging Het
Pradc1 G A 6: 85,425,568 (GRCm39) R25C probably damaging Het
Rfwd3 C T 8: 112,014,874 (GRCm39) R326Q probably damaging Het
Rnd2 A G 11: 101,362,022 (GRCm39) T192A probably benign Het
Rtbdn A G 8: 85,681,695 (GRCm39) E131G probably benign Het
Ryr2 A G 13: 11,809,449 (GRCm39) V792A probably benign Het
Sacs G T 14: 61,451,128 (GRCm39) Q4391H probably damaging Het
Scd2 A G 19: 44,286,538 (GRCm39) S123G probably benign Het
Septin9 A G 11: 117,181,421 (GRCm39) R74G probably damaging Het
Sipa1l2 T A 8: 126,218,356 (GRCm39) Q327L probably damaging Het
Skor1 T C 9: 63,053,505 (GRCm39) T127A probably damaging Het
Sphk2 A G 7: 45,362,920 (GRCm39) V57A probably damaging Het
Tfec A T 6: 16,844,243 (GRCm39) D101E probably damaging Het
Tmem43 T A 6: 91,455,717 (GRCm39) H109Q probably benign Het
Tmem67 C A 4: 12,047,814 (GRCm39) S839I probably damaging Het
Trpv5 T C 6: 41,630,074 (GRCm39) Y672C probably damaging Het
Ttc39d A C 17: 80,523,913 (GRCm39) S191R probably benign Het
Ttll1 C T 15: 83,380,478 (GRCm39) V296M probably damaging Het
Upp2 A C 2: 58,664,177 (GRCm39) K130T possibly damaging Het
Vmn2r5 A G 3: 64,398,640 (GRCm39) C780R probably damaging Het
Wars1 C A 12: 108,841,635 (GRCm39) E171* probably null Het
Zeb2 A T 2: 44,887,012 (GRCm39) S637T probably damaging Het
Zfp27 T A 7: 29,595,549 (GRCm39) T139S possibly damaging Het
Zfp941 A T 7: 140,392,033 (GRCm39) L442Q 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
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
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
Predicted Primers PCR Primer
(F):5'- AGAAGCCCTTGAACATAATTGACACCG -3'
(R):5'- TTGGGTAAGACTGCTGCACTGATG -3'

Sequencing Primer
(F):5'- CTTGAACATAATTGACACCGGAGATG -3'
(R):5'- CCTAAAATGGTGCTTTTACAGGCTG -3'
Posted On 2014-04-13