Incidental Mutation 'R1497:Fcrl1'
ID 168938
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 039548-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1497 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 87283694-87310241 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 87292109 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Histidine at position 89 (Q89H)
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: Q89H

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000072300
Gene: ENSMUSG00000059994
AA Change: Q89H

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: Q109H

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000130936
Gene: ENSMUSG00000059994
AA Change: Q109H

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: Q89H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000128235
Gene: ENSMUSG00000059994
AA Change: Q89H

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: Q89H

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000141916
Gene: ENSMUSG00000059994
AA Change: Q89H

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: Q89H

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142286
Gene: ENSMUSG00000059994
AA Change: Q89H

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
Meta Mutation Damage Score 0.3946 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 94.4%
Validation Efficiency 99% (79/80)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b G T 11: 109,864,647 (GRCm39) probably benign Het
Abhd17a A G 10: 80,420,164 (GRCm39) probably benign Het
Acacb G A 5: 114,334,868 (GRCm39) E646K probably damaging Het
Afap1l2 T C 19: 56,916,743 (GRCm39) M262V probably benign Het
Anapc7 T A 5: 122,573,578 (GRCm39) probably benign Het
Car5b T A X: 162,771,400 (GRCm39) K188N probably benign Het
Caskin1 C T 17: 24,723,515 (GRCm39) R768* probably null Het
Casp8ap2 T C 4: 32,639,938 (GRCm39) S331P probably benign Het
Ccdc68 C T 18: 70,093,585 (GRCm39) probably benign Het
Cd44 A T 2: 102,673,300 (GRCm39) probably null Het
Celsr3 A G 9: 108,726,064 (GRCm39) S3090G probably benign Het
Clasp1 A T 1: 118,479,788 (GRCm39) M1023L probably benign Het
Clec16a T C 16: 10,453,123 (GRCm39) F608S probably damaging Het
Col7a1 A C 9: 108,807,893 (GRCm39) E2531A unknown Het
Ctc1 T A 11: 68,913,387 (GRCm39) C128S probably benign Het
Cyp2d41-ps T C 15: 82,666,223 (GRCm39) noncoding transcript Het
Cyp2j6 T A 4: 96,419,898 (GRCm39) I278F probably damaging Het
Dhtkd1 A T 2: 5,908,924 (GRCm39) S723R probably damaging Het
Dhx8 A G 11: 101,626,213 (GRCm39) probably benign Het
Dnah17 A T 11: 118,005,059 (GRCm39) L775Q probably damaging Het
Dnah8 C A 17: 30,971,049 (GRCm39) T2701K probably damaging Het
Eml3 T A 19: 8,913,733 (GRCm39) S424R probably damaging Het
Epm2aip1 A G 9: 111,101,315 (GRCm39) E96G possibly damaging Het
Ezr T C 17: 7,010,107 (GRCm39) H314R probably benign Het
Fam193b G T 13: 55,702,247 (GRCm39) H43Q probably damaging Het
Fam217a T A 13: 35,095,195 (GRCm39) N340I probably damaging Het
Flg2 A T 3: 93,127,076 (GRCm39) H1996L unknown Het
Gabpb1 C T 2: 126,481,169 (GRCm39) V327M possibly damaging Het
Gtf3c3 A G 1: 54,477,098 (GRCm39) V36A probably benign Het
Hspg2 A G 4: 137,275,407 (GRCm39) N2739S probably damaging Het
Hyal1 A G 9: 107,455,194 (GRCm39) probably null Het
Ipo13 T C 4: 117,761,856 (GRCm39) D448G probably benign Het
Kcnq5 T C 1: 21,472,610 (GRCm39) D860G possibly damaging Het
Kif13b A G 14: 64,973,715 (GRCm39) N355S probably damaging Het
Kmt2c T A 5: 25,519,513 (GRCm39) H2199L possibly damaging Het
Magi1 A G 6: 93,724,310 (GRCm39) F235S probably damaging Het
Maml1 A C 11: 50,156,534 (GRCm39) M547R possibly damaging Het
Mapk7 T C 11: 61,384,689 (GRCm39) K6E possibly damaging Het
Mbd5 T A 2: 49,147,393 (GRCm39) N534K possibly damaging Het
Mcat G A 15: 83,433,453 (GRCm39) Q34* probably null Het
Mcu T A 10: 59,284,670 (GRCm39) D180V probably damaging Het
Mettl21c G T 1: 44,048,951 (GRCm39) P199T probably benign Het
Mndal A T 1: 173,700,441 (GRCm39) S177T probably benign Het
Mpeg1 G T 19: 12,438,611 (GRCm39) C23F probably benign Het
Mup15 T A 4: 61,356,471 (GRCm39) Y98F probably benign Het
Myh8 T C 11: 67,180,638 (GRCm39) S625P probably benign Het
Nipsnap2 T C 5: 129,830,282 (GRCm39) probably benign Het
Nlrp4e T C 7: 23,019,797 (GRCm39) S95P probably benign Het
Or1e19 T A 11: 73,316,653 (GRCm39) D52V possibly damaging Het
Or4a66 T C 2: 88,531,106 (GRCm39) D189G probably damaging Het
Otop2 A G 11: 115,220,675 (GRCm39) probably null Het
Pcnx4 G C 12: 72,621,174 (GRCm39) G998A probably benign Het
Pnkd C A 1: 74,390,681 (GRCm39) probably null Het
Ppp4r4 T A 12: 103,573,204 (GRCm39) V701E probably benign Het
Ryr2 A G 13: 11,616,727 (GRCm39) I3897T probably damaging Het
Scn1a T C 2: 66,162,631 (GRCm39) E205G probably damaging Het
Sdk2 G A 11: 113,784,401 (GRCm39) probably benign Het
Serpinb5 A T 1: 106,803,782 (GRCm39) Q156L probably benign Het
Setdb1 A T 3: 95,234,778 (GRCm39) V975D probably benign Het
Shc1 A G 3: 89,335,752 (GRCm39) *470W probably null Het
Sik3 T A 9: 46,113,320 (GRCm39) V587E probably damaging Het
Sik3 C A 9: 46,132,387 (GRCm39) H1276Q probably benign Het
Spata7 T C 12: 98,635,120 (GRCm39) I384T probably damaging Het
Tanc2 T A 11: 105,812,963 (GRCm39) V1469D probably benign Het
Tasor2 T C 13: 3,620,409 (GRCm39) E2164G probably damaging Het
Tdrd5 A T 1: 156,083,372 (GRCm39) N888K probably benign Het
Tex22 T C 12: 113,039,000 (GRCm39) S34P probably benign Het
Tmed6 T C 8: 107,790,754 (GRCm39) T98A probably benign Het
Trim66 G A 7: 109,083,826 (GRCm39) P141L probably benign Het
Trpa1 T C 1: 14,956,036 (GRCm39) I778V probably benign Het
Urb2 T A 8: 124,754,816 (GRCm39) H174Q probably damaging Het
Usb1 T C 8: 96,065,325 (GRCm39) V59A probably benign Het
Vmn1r11 T A 6: 57,114,394 (GRCm39) N19K probably damaging Het
Vmn1r185 A T 7: 26,311,219 (GRCm39) F95L probably benign Het
Vmn1r206 C T 13: 22,805,160 (GRCm39) V16M probably benign Het
Vmn2r92 T C 17: 18,387,625 (GRCm39) V210A probably benign Het
Wdr17 A T 8: 55,125,536 (GRCm39) I448K possibly damaging Het
Zfp768 T A 7: 126,942,733 (GRCm39) Q465L probably damaging Het
Zfp804b T A 5: 6,821,105 (GRCm39) N617Y 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
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
Predicted Primers PCR Primer
(F):5'- TGGTCCTCATCTGCTCGGTTGATAG -3'
(R):5'- GGTTCCAGAGTCCCCAAACGTAAG -3'

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