Incidental Mutation 'R4819:Fcrla'
ID 370031
Institutional Source Beutler Lab
Gene Symbol Fcrla
Ensembl Gene ENSMUSG00000038421
Gene Name Fc receptor-like A
Synonyms mFREB, Freb1, Fcrx, mFcrX, FREB, FCRL1
MMRRC Submission 042000-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4819 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 170745163-170755169 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 170748508 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 212 (I212F)
Ref Sequence ENSEMBL: ENSMUSP00000124859 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046322] [ENSMUST00000159149] [ENSMUST00000159171] [ENSMUST00000162136] [ENSMUST00000162887]
AlphaFold Q920A9
Predicted Effect possibly damaging
Transcript: ENSMUST00000046322
AA Change: I238F

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000036380
Gene: ENSMUSG00000038421
AA Change: I238F

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
low complexity region 49 62 N/A INTRINSIC
IG 95 177 5.75e-4 SMART
IG 188 272 1.4e-7 SMART
low complexity region 281 296 N/A INTRINSIC
low complexity region 310 323 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000159149
AA Change: D164V
SMART Domains Protein: ENSMUSP00000125074
Gene: ENSMUSG00000038421
AA Change: D164V

DomainStartEndE-ValueType
low complexity region 20 33 N/A INTRINSIC
IG 66 148 5.75e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000159171
AA Change: I237F

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124853
Gene: ENSMUSG00000038421
AA Change: I237F

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
low complexity region 48 61 N/A INTRINSIC
IG 94 176 5.75e-4 SMART
IG 187 271 1.4e-7 SMART
low complexity region 280 295 N/A INTRINSIC
low complexity region 309 322 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159266
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161050
Predicted Effect probably damaging
Transcript: ENSMUST00000162136
AA Change: I212F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124859
Gene: ENSMUSG00000038421
AA Change: I212F

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
low complexity region 49 62 N/A INTRINSIC
Pfam:Ig_2 83 150 2.2e-6 PFAM
Pfam:Ig_2 156 215 1e-3 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162887
SMART Domains Protein: ENSMUSP00000124469
Gene: ENSMUSG00000038421

DomainStartEndE-ValueType
Pfam:Ig_2 28 78 1.4e-7 PFAM
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein similar to receptors for the Fc fragment of gamma immunoglobulin (IgG). These receptors, referred to as FCGRs, mediate the destruction of IgG-coated antigens and of cells induced by antibodies. This encoded protein is selectively expressed in B cells, and may be involved in their development. This protein may also be involved in the development of lymphomas. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a targeted allele exhibit largely normal T-dependent and T-independent antibody responses with an increase in IgG1 after secondary challenge with sheep red blood cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,240,421 (GRCm39) N761K possibly damaging Het
Adgrf3 T A 5: 30,403,442 (GRCm39) L444F possibly damaging Het
Akap8 G A 17: 32,531,279 (GRCm39) R378W probably damaging Het
Amotl2 C T 9: 102,607,270 (GRCm39) R693W probably damaging Het
As3mt G T 19: 46,695,968 (GRCm39) probably benign Het
Atp6v1e2 A G 17: 87,251,966 (GRCm39) V144A probably benign Het
Bfar C T 16: 13,505,331 (GRCm39) Q114* probably null Het
Casd1 C T 6: 4,621,225 (GRCm39) A261V probably damaging Het
Cd177 A T 7: 24,451,696 (GRCm39) I440K probably damaging Het
Cfap54 G T 10: 92,672,339 (GRCm39) Y2910* probably null Het
Csl A G 10: 99,593,944 (GRCm39) F374L possibly damaging Het
Dctn1 G A 6: 83,167,501 (GRCm39) R275H probably damaging Het
Derl3 A G 10: 75,729,713 (GRCm39) probably null Het
Dst A G 1: 34,007,916 (GRCm39) I117V probably benign Het
Edc3 T A 9: 57,655,680 (GRCm39) C477S possibly damaging Het
Efs T C 14: 55,154,610 (GRCm39) E450G probably damaging Het
Fsip2 A G 2: 82,818,786 (GRCm39) I4840V probably benign Het
Gpam T A 19: 55,066,773 (GRCm39) I581F probably benign Het
Greb1l A G 18: 10,458,358 (GRCm39) D45G probably damaging Het
Heca A G 10: 17,783,820 (GRCm39) Y478H probably damaging Het
Hspa9 C T 18: 35,072,441 (GRCm39) M561I probably damaging Het
Hyal6 T A 6: 24,734,965 (GRCm39) Y299* probably null Het
Iho1 A G 9: 108,283,877 (GRCm39) V189A probably benign Het
Ik T A 18: 36,886,310 (GRCm39) probably null Het
Khsrp A G 17: 57,330,360 (GRCm39) S582P possibly damaging Het
Kif18a A G 2: 109,122,471 (GRCm39) D182G probably damaging Het
Krt1c T C 15: 101,719,979 (GRCm39) T564A unknown Het
Lig4 A G 8: 10,021,885 (GRCm39) S632P probably benign Het
Med1 C T 11: 98,046,258 (GRCm39) probably benign Het
Mgat3 T A 15: 80,096,550 (GRCm39) I459N probably damaging Het
Mkln1 A T 6: 31,451,421 (GRCm39) Q454L probably benign Het
Mn1 A G 5: 111,567,803 (GRCm39) E591G possibly damaging Het
Myo5c T A 9: 75,199,484 (GRCm39) L1364Q probably damaging Het
Oas1d T C 5: 121,053,780 (GRCm39) V80A probably damaging Het
Obscn A T 11: 58,929,674 (GRCm39) D5180E probably damaging Het
Pax6 G A 2: 105,522,622 (GRCm39) probably null Het
Pcdh15 A C 10: 74,160,221 (GRCm39) N446T probably damaging Het
Pcnx2 A T 8: 126,581,969 (GRCm39) F922L probably benign Het
Ptpn4 G T 1: 119,587,580 (GRCm39) T921K probably benign Het
Selenov A G 7: 27,989,746 (GRCm39) probably null Het
Tmem100 A G 11: 89,926,271 (GRCm39) T33A probably benign Het
Tmem59 C T 4: 107,044,878 (GRCm39) Q66* probably null Het
Trav21-dv12 T A 14: 54,114,070 (GRCm39) Y63* probably null Het
Trim66 G T 7: 109,056,793 (GRCm39) H1121Q probably damaging Het
Trim80 A G 11: 115,338,769 (GRCm39) Y533C probably damaging Het
Ttc17 G A 2: 94,194,955 (GRCm39) P520L probably damaging Het
Ttn A T 2: 76,622,093 (GRCm39) V15483E probably damaging Het
Vinac1 G T 2: 128,882,721 (GRCm39) N98K probably damaging Het
Zdhhc1 CGGGGG CGGGGGG 8: 106,210,376 (GRCm39) probably null Het
Zfhx4 C A 3: 5,468,974 (GRCm39) T3069K probably benign Het
Zfp281 A G 1: 136,553,448 (GRCm39) H142R probably benign Het
Zfp462 G T 4: 55,060,044 (GRCm39) R1190L probably damaging Het
Zfp935 T A 13: 62,602,231 (GRCm39) H323L probably damaging Het
Other mutations in Fcrla
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Fcrla APN 1 170,755,067 (GRCm39) missense probably benign 0.00
IGL01712:Fcrla APN 1 170,749,192 (GRCm39) splice site probably null
IGL03323:Fcrla APN 1 170,755,114 (GRCm39) utr 5 prime probably benign
R0113:Fcrla UTSW 1 170,749,868 (GRCm39) start codon destroyed probably null 0.04
R1457:Fcrla UTSW 1 170,748,573 (GRCm39) missense probably damaging 1.00
R1917:Fcrla UTSW 1 170,755,095 (GRCm39) nonsense probably null
R4331:Fcrla UTSW 1 170,749,245 (GRCm39) missense possibly damaging 0.74
R4923:Fcrla UTSW 1 170,748,682 (GRCm39) missense probably damaging 1.00
R5000:Fcrla UTSW 1 170,749,959 (GRCm39) missense probably benign 0.03
R5441:Fcrla UTSW 1 170,752,991 (GRCm39) intron probably benign
R5459:Fcrla UTSW 1 170,745,738 (GRCm39) missense possibly damaging 0.68
R6575:Fcrla UTSW 1 170,749,797 (GRCm39) missense probably damaging 1.00
R7369:Fcrla UTSW 1 170,749,886 (GRCm39) missense probably benign 0.23
R7786:Fcrla UTSW 1 170,748,426 (GRCm39) missense possibly damaging 0.93
R9276:Fcrla UTSW 1 170,755,135 (GRCm39) unclassified probably benign
R9482:Fcrla UTSW 1 170,745,949 (GRCm39) missense probably benign 0.00
R9585:Fcrla UTSW 1 170,749,868 (GRCm39) start codon destroyed probably null 0.04
R9622:Fcrla UTSW 1 170,749,808 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGACTTTGGATTATTGCCCTGTC -3'
(R):5'- TTGCAGCCCCAGTTCTCAAAG -3'

Sequencing Primer
(F):5'- GTTCCTCCAGAGTTCGGTTGATAAAC -3'
(R):5'- AAAGCCTTACCTTCTAGTGAGC -3'
Posted On 2016-02-04