Incidental Mutation 'R2928:Fcrl1'
ID 254925
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2928 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 87283694-87310241 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87298564 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 353 (N353S)
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: N333S

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000072300
Gene: ENSMUSG00000059994
AA Change: N333S

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: N353S

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000130936
Gene: ENSMUSG00000059994
AA Change: N353S

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: N290S

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000128235
Gene: ENSMUSG00000059994
AA Change: N290S

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 probably benign
Transcript: ENSMUST00000194786
SMART Domains Protein: ENSMUSP00000142286
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
transmembrane domain 221 243 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.6%
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: 11 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc1 T C 2: 128,522,057 (GRCm39) K167R probably damaging Het
Brpf1 T C 6: 113,299,007 (GRCm39) V1127A possibly damaging Het
Cept1 G A 3: 106,438,468 (GRCm39) T205I probably benign Het
Cpd T C 11: 76,737,200 (GRCm39) D198G probably benign Het
Csad A G 15: 102,086,139 (GRCm39) F464S probably damaging Het
Glb1l2 A T 9: 26,679,722 (GRCm39) M410K probably benign Het
Gskip T A 12: 105,667,002 (GRCm39) F127I probably damaging Het
Iqgap2 T C 13: 95,818,744 (GRCm39) T671A probably benign Het
Or5aq7 A T 2: 86,938,107 (GRCm39) I208N possibly damaging Het
Tmem260 T C 14: 48,724,207 (GRCm39) F352L probably damaging Het
Vmn2r22 T C 6: 123,614,402 (GRCm39) N396S probably damaging 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
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
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'- GAATTCCTTGGCAGGGACAC -3'
(R):5'- GGTGAAGGACCCATCTAATGAAC -3'

Sequencing Primer
(F):5'- GAGTCACAGGCTCTTTTGATAATGC -3'
(R):5'- CCATCTAATGAACCGCAGTGTGTG -3'
Posted On 2014-12-29