Mutagenetix > Incidental Mutations

Incidental Mutation 'R7210:Fcrl5'

560983

Institutional Source

Beutler Lab

Gene Symbol

Fcrl5

Ensembl Gene

ENSMUSG00000048031

Gene Name

Fc receptor-like 5

Synonyms

BXMAS1-like protein 2, Fcrh3, mBXMH2

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R7210 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87435773-87500678 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87446412 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 355 (N355Y)

Ref Sequence

ENSEMBL: ENSMUSP00000142210 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049926] [ENSMUST00000166297] [ENSMUST00000178261] [ENSMUST00000193229] [ENSMUST00000194102]

AlphaFold

Q68SN8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049926
AA Change: N355Y

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000050151
Gene: ENSMUSG00000048031
AA Change: N355Y

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
IG	40	113	2.08e-1	SMART
IGc2	128	188	6.16e-4	SMART
IG_like	213	296	4.41e1	SMART
IGc2	316	380	3.97e-7	SMART
IG_like	410	473	2.94e-1	SMART
transmembrane domain	495	517	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166297
AA Change: N267Y

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000131176
Gene: ENSMUSG00000048031
AA Change: N267Y

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
IGc2	40	100	6.16e-4	SMART
IG_like	125	208	4.41e1	SMART
IGc2	228	292	3.97e-7	SMART
IG_like	322	385	2.94e-1	SMART
transmembrane domain	407	429	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000178261
AA Change: N355Y

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000136046
Gene: ENSMUSG00000048031
AA Change: N355Y

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
IG	40	113	2.08e-1	SMART
IGc2	128	188	6.16e-4	SMART
IG_like	213	296	4.41e1	SMART
IGc2	316	380	3.97e-7	SMART
IG_like	410	473	2.94e-1	SMART
transmembrane domain	495	517	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000193229
AA Change: N267Y

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000141311
Gene: ENSMUSG00000048031
AA Change: N267Y

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
IGc2	40	100	6.16e-4	SMART
IG_like	125	208	4.41e1	SMART
IGc2	228	292	3.97e-7	SMART
IG_like	322	385	2.94e-1	SMART
transmembrane domain	407	429	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000194102
AA Change: N355Y

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000142210
Gene: ENSMUSG00000048031
AA Change: N355Y

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
IG	40	113	2.08e-1	SMART
IGc2	128	188	6.16e-4	SMART
IG_like	213	296	4.41e1	SMART
IGc2	316	380	3.97e-7	SMART
IG_like	410	473	2.94e-1	SMART
transmembrane domain	495	517	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (60/60)

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 the Fc-receptor like family. This gene and several other Fc receptor-like gene members are clustered on the long arm of chromosome 1. The encoded protein is a single-pass type I membrane protein and contains 8 immunoglobulin-like C2-type domains. This gene is implicated in B cell development and lymphomagenesis. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Sep 2010]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	G	A	11: 94,373,941	P194S	probably benign	Het
Ackr2	C	T	9: 121,908,877	A106V	possibly damaging	Het
Alg3	G	A	16: 20,605,894	P112L	unknown	Het
Areg	T	A	5: 91,140,905	Y23*	probably null	Het
Aspn	A	G	13: 49,566,491	T328A	probably benign	Het
B020011L13Rik	A	T	1: 117,801,511	E249D	possibly damaging	Het
Bptf	G	A	11: 107,054,464	Q2650*	probably null	Het
Btbd3	A	T	2: 138,283,744	R283W	probably damaging	Het
Cep131	T	C	11: 120,064,789	H1035R	probably damaging	Het
Cfap57	A	T	4: 118,576,703	Y959*	probably null	Het
Cnot1	T	C	8: 95,788,658	Y25C	probably damaging	Het
Crebbp	G	A	16: 4,084,257	H2373Y	possibly damaging	Het
Ctnna3	T	C	10: 64,250,768	L373P	probably damaging	Het
Cyp8b1	T	A	9: 121,915,180	D362V	probably damaging	Het
D430042O09Rik	T	C	7: 125,872,239	V1504A	probably damaging	Het
D630003M21Rik	T	A	2: 158,216,012		probably null	Het
Dpp6	T	C	5: 27,598,803	I249T	probably damaging	Het
Fam149b	T	G	14: 20,378,472	I475M	probably damaging	Het
Fat1	A	G	8: 45,023,503	Y1862C	probably damaging	Het
Fgd6	C	T	10: 94,134,092	T1201I	probably damaging	Het
Fndc8	A	T	11: 82,897,866	D174V	probably damaging	Het
Gatb	A	G	3: 85,574,220	H26R	probably benign	Het
Gm37240	T	A	3: 84,497,807	T230S	probably benign	Het
Gria4	T	C	9: 4,464,135	Q609R	probably damaging	Het
Gse1	C	A	8: 120,230,702	T644K	unknown	Het
Ifit1bl1	T	G	19: 34,594,164	I298L	probably benign	Het
Il31ra	T	C	13: 112,549,500	D85G	possibly damaging	Het
Lyst	T	C	13: 13,656,983	L1664P	probably damaging	Het
Mrpl35	A	G	6: 71,817,738	L82S	possibly damaging	Het
Myo7b	G	A	18: 32,007,102	R212C	probably damaging	Het
Myom2	T	C	8: 15,104,114	V684A	probably damaging	Het
Nbeal1	G	C	1: 60,237,151	V684L	probably benign	Het
Nop58	G	T	1: 59,710,380		probably null	Het
Nudt13	T	A	14: 20,309,784	I193N	possibly damaging	Het
Nyap1	C	A	5: 137,737,982	R81L	probably damaging	Het
Olfr388-ps1	T	C	11: 73,724,873	I50M	possibly damaging	Het
Oxct2b	A	C	4: 123,116,276		probably benign	Het
Pcf11	C	T	7: 92,663,476	A230T	probably benign	Het
Phactr4	A	T	4: 132,358,271	*695R	probably null	Het
Pkd1	T	C	17: 24,575,866	S2176P	probably damaging	Het
Plch2	C	A	4: 155,009,086	R133L	probably damaging	Het
Ptprq	G	T	10: 107,685,171	N713K	probably damaging	Het
Ptrh2	A	T	11: 86,689,967	T137S	probably benign	Het
R3hdm1	A	G	1: 128,211,208	Y718C	possibly damaging	Het
Rftn1	T	A	17: 49,994,307	R505*	probably null	Het
Rps15a	A	G	7: 118,109,111	F128L	probably benign	Het
Slc25a25	A	T	2: 32,420,396	M177K	possibly damaging	Het
Smgc	C	A	15: 91,860,294	P631Q	probably damaging	Het
Sox2	T	C	3: 34,651,157	S248P	probably damaging	Het
Sycp1	T	C	3: 102,853,492	K702E	probably damaging	Het
Tes	G	T	6: 17,104,762	C414F	probably damaging	Het
Tet1	A	T	10: 62,814,501	C14S	probably null	Het
Tle3	C	T	9: 61,412,305	P452S	probably damaging	Het
Tmc6	A	C	11: 117,775,844	L131R	possibly damaging	Het
Tnip3	C	T	6: 65,593,511	R30*	probably null	Het
Tnrc6b	G	T	15: 80,929,285	G1748W	probably damaging	Het
Ugt2b38	T	G	5: 87,410,425	D459A	probably damaging	Het
Zdhhc2	A	T	8: 40,467,439	R246S	probably damaging	Het
Zscan22	T	A	7: 12,906,821	C331S	probably damaging	Het

Other mutations in Fcrl5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01743:Fcrl5	APN	3	87444291	missense	probably damaging	0.96
IGL01868:Fcrl5	APN	3	87443707	missense	possibly damaging	0.58
IGL01939:Fcrl5	APN	3	87446299	missense	probably damaging	0.99
IGL02817:Fcrl5	APN	3	87435913	missense	probably benign	0.35
IGL03106:Fcrl5	APN	3	87435883	splice site	probably null
R0381:Fcrl5	UTSW	3	87446460	missense	probably damaging	1.00
R0523:Fcrl5	UTSW	3	87457792	missense	possibly damaging	0.72
R0646:Fcrl5	UTSW	3	87442013	missense	probably benign	0.00
R1231:Fcrl5	UTSW	3	87442179	missense	probably benign	0.13
R1353:Fcrl5	UTSW	3	87448362	missense	probably damaging	1.00
R1711:Fcrl5	UTSW	3	87457414	missense	possibly damaging	0.61
R1714:Fcrl5	UTSW	3	87446406	missense	probably damaging	1.00
R1719:Fcrl5	UTSW	3	87457397	missense	probably damaging	0.98
R2084:Fcrl5	UTSW	3	87444230	missense	probably benign	0.24
R2358:Fcrl5	UTSW	3	87446419	missense	probably damaging	0.99
R2884:Fcrl5	UTSW	3	87457391	missense	probably damaging	1.00
R2885:Fcrl5	UTSW	3	87457391	missense	probably damaging	1.00
R3085:Fcrl5	UTSW	3	87446464	missense	probably damaging	1.00
R3153:Fcrl5	UTSW	3	87443680	missense	probably benign	0.09
R4288:Fcrl5	UTSW	3	87442224	missense	probably benign	0.09
R4289:Fcrl5	UTSW	3	87442224	missense	probably benign	0.09
R4614:Fcrl5	UTSW	3	87448426	missense	probably damaging	1.00
R4719:Fcrl5	UTSW	3	87444189	missense	probably damaging	1.00
R4788:Fcrl5	UTSW	3	87457188	missense	probably damaging	1.00
R4920:Fcrl5	UTSW	3	87444173	missense	probably damaging	1.00
R4972:Fcrl5	UTSW	3	87454650	missense	probably benign	0.00
R5373:Fcrl5	UTSW	3	87446391	missense	probably benign	0.01
R5374:Fcrl5	UTSW	3	87446391	missense	probably benign	0.01
R5963:Fcrl5	UTSW	3	87444173	missense	probably damaging	1.00
R5975:Fcrl5	UTSW	3	87442103	missense	probably benign	0.00
R6022:Fcrl5	UTSW	3	87455763	missense	probably benign	0.42
R6267:Fcrl5	UTSW	3	87448324	missense	probably damaging	1.00
R6372:Fcrl5	UTSW	3	87444194	nonsense	probably null
R6393:Fcrl5	UTSW	3	87448327	missense	probably damaging	1.00
R7088:Fcrl5	UTSW	3	87457834	makesense	probably null
R7175:Fcrl5	UTSW	3	87446338	missense	probably benign	0.37
R7217:Fcrl5	UTSW	3	87443774	missense	probably damaging	1.00
R7243:Fcrl5	UTSW	3	87442245	missense	probably benign
R7776:Fcrl5	UTSW	3	87444195	missense	possibly damaging	0.84
R7813:Fcrl5	UTSW	3	87443623	missense	probably benign	0.09
R8357:Fcrl5	UTSW	3	87444260	missense	probably damaging	0.99
R8457:Fcrl5	UTSW	3	87444260	missense	probably damaging	0.99
R9257:Fcrl5	UTSW	3	87435888	missense	probably benign	0.11
R9276:Fcrl5	UTSW	3	87435831	start gained	probably benign
X0054:Fcrl5	UTSW	3	87446299	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAGGAGCTTCTGCGAGATTCC -3'
(R):5'- TCCCAGGGAAATACATGTTTGAG -3'

Sequencing Primer
(F):5'- GAGCTTCTGCGAGATTCCAAACAC -3'
(R):5'- AATGATGGCTGACTAGGCCATCTTC -3'

Posted On

2019-06-26