Mutagenetix > Incidental Mutation

Incidental Mutation 'R5975:Fcrl5'

471671

Institutional Source

Beutler Lab

Gene Symbol

Fcrl5

Ensembl Gene

ENSMUSG00000048031

Gene Name

Fc receptor-like 5

Synonyms

Fcrh3, BXMAS1-like protein 2, mBXMH2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R5975 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87343084-87407985 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 87349410 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 62 (V62I)

Ref Sequence

ENSEMBL: ENSMUSP00000142210 (fasta)

Gene Model

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

AlphaFold

Q68SN8

Predicted Effect

probably benign
Transcript: ENSMUST00000049926
AA Change: V62I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000050151
Gene: ENSMUSG00000048031
AA Change: V62I

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

probably benign
Transcript: ENSMUST00000166297

SMART Domains

Protein: ENSMUSP00000131176
Gene: ENSMUSG00000048031

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

probably benign
Transcript: ENSMUST00000178261
AA Change: V62I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000136046
Gene: ENSMUSG00000048031
AA Change: V62I

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

probably benign
Transcript: ENSMUST00000193229

SMART Domains

Protein: ENSMUSP00000141311
Gene: ENSMUSG00000048031

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

probably benign
Transcript: ENSMUST00000194102
AA Change: V62I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000142210
Gene: ENSMUSG00000048031
AA Change: V62I

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: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.3%

Validation Efficiency

98% (80/82)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430038I01Rik	T	C	7: 136,989,021 (GRCm39)		probably benign	Het
Abhd14a	A	T	9: 106,321,150 (GRCm39)		probably null	Het
Actn2	T	C	13: 12,355,378 (GRCm39)	N2D	probably benign	Het
Adcy9	T	C	16: 4,129,431 (GRCm39)	E722G	probably damaging	Het
Alox12	C	A	11: 70,133,609 (GRCm39)	V572L	possibly damaging	Het
Ankrd11	T	C	8: 123,616,488 (GRCm39)	I2434V	possibly damaging	Het
Anks1	T	A	17: 28,210,421 (GRCm39)		probably null	Het
Bltp1	C	T	3: 37,023,370 (GRCm39)	T2233I	possibly damaging	Het
Bpifa3	T	A	2: 153,978,241 (GRCm39)	S148T	probably damaging	Het
Bptf	C	T	11: 106,926,690 (GRCm39)		probably benign	Het
Cabin1	A	T	10: 75,493,673 (GRCm39)	L1655H	probably damaging	Het
Ccdc13	G	T	9: 121,656,301 (GRCm39)	Q171K	probably benign	Het
Ccdc33	T	A	9: 58,024,761 (GRCm39)	Q155L	possibly damaging	Het
Cckbr	G	A	7: 105,119,826 (GRCm39)	G280E	probably benign	Het
Cdk11b	G	A	4: 155,732,697 (GRCm39)		probably benign	Het
Celsr1	G	T	15: 85,803,239 (GRCm39)		probably null	Het
Cenpj	A	T	14: 56,801,523 (GRCm39)	I150N	possibly damaging	Het
Cep135	C	A	5: 76,788,737 (GRCm39)	A1110E	possibly damaging	Het
Chit1	C	A	1: 134,074,364 (GRCm39)	H224N	probably damaging	Het
Cul5	T	C	9: 53,534,093 (GRCm39)	R680G	probably damaging	Het
Dhx58	C	A	11: 100,593,035 (GRCm39)	R224L	probably damaging	Het
Dlx1	C	A	2: 71,361,353 (GRCm39)	N122K	probably damaging	Het
Dnah5	A	C	15: 28,234,428 (GRCm39)	D279A	probably damaging	Het
Dnai4	G	A	4: 102,906,786 (GRCm39)	P676S	probably benign	Het
Efcab3	A	G	11: 104,578,375 (GRCm39)		probably benign	Het
Enpp3	A	G	10: 24,650,740 (GRCm39)	W799R	probably benign	Het
Ercc5	A	G	1: 44,212,566 (GRCm39)	T675A	probably benign	Het
Farsa	T	A	8: 85,591,061 (GRCm39)		probably null	Het
Fbxw15	A	T	9: 109,384,320 (GRCm39)	V397D	probably damaging	Het
Gart	A	G	16: 91,421,224 (GRCm39)	S815P	probably damaging	Het
Glrx5	A	G	12: 105,006,582 (GRCm39)	N111S	possibly damaging	Het
Gm10845	A	G	14: 80,100,614 (GRCm39)		noncoding transcript	Het
Gm9925	T	A	18: 74,198,587 (GRCm39)		probably benign	Het
Gsdme	T	C	6: 50,204,339 (GRCm39)	N206S	probably benign	Het
Helz2	T	C	2: 180,872,843 (GRCm39)	S2459G	probably benign	Het
Hnrnpul1	A	G	7: 25,453,784 (GRCm39)	S93P	possibly damaging	Het
Ints2	A	T	11: 86,117,574 (GRCm39)	I716N	possibly damaging	Het
Lmnb2	G	A	10: 80,740,962 (GRCm39)	Q248*	probably null	Het
Map3k7cl	A	G	16: 87,367,209 (GRCm39)	I32V	probably benign	Het
Mfsd4b4	A	T	10: 39,768,466 (GRCm39)	I255N	probably benign	Het
Myh6	A	G	14: 55,187,965 (GRCm39)	I1163T	probably benign	Het
Nphs1	A	T	7: 30,165,540 (GRCm39)	T636S	possibly damaging	Het
Ntsr1	T	A	2: 180,142,581 (GRCm39)	L124Q	probably damaging	Het
Obscn	C	T	11: 59,013,445 (GRCm39)		probably null	Het
P4ha2	G	A	11: 54,017,238 (GRCm39)		probably null	Het
Pcdha9	T	A	18: 37,132,164 (GRCm39)	V411D	probably benign	Het
Pkhd1l1	A	T	15: 44,389,384 (GRCm39)	I1380F	probably damaging	Het
Plekha1	T	C	7: 130,493,983 (GRCm39)	V106A	probably benign	Het
Plekhm1	A	T	11: 103,267,517 (GRCm39)	V818E	possibly damaging	Het
Pprc1	T	G	19: 46,053,809 (GRCm39)		probably benign	Het
Prb1c	A	G	6: 132,339,036 (GRCm39)	S61P	unknown	Het
Prmt9	T	C	8: 78,287,647 (GRCm39)		probably benign	Het
Rab26	T	C	17: 24,749,373 (GRCm39)	N193D	possibly damaging	Het
Rnf111	A	G	9: 70,336,862 (GRCm39)	S942P	probably damaging	Het
Scgb2b18	T	C	7: 32,872,650 (GRCm39)	T52A	probably damaging	Het
Syt3	C	T	7: 44,042,187 (GRCm39)	Q349*	probably null	Het
Tas2r107	T	C	6: 131,636,743 (GRCm39)	N102S	probably benign	Het
Tas2r126	T	A	6: 42,411,934 (GRCm39)	Y156N	possibly damaging	Het
Tcaf2	A	T	6: 42,619,712 (GRCm39)	I105N	probably benign	Het
Tet1	A	C	10: 62,715,552 (GRCm39)	M81R	probably benign	Het
Togaram2	T	C	17: 72,036,200 (GRCm39)	Y897H	probably damaging	Het
Trerf1	A	T	17: 47,625,197 (GRCm39)		noncoding transcript	Het
Ttn	G	A	2: 76,591,579 (GRCm39)	T12703I	probably damaging	Het
Unc79	A	G	12: 103,091,885 (GRCm39)	K1735E	possibly damaging	Het
Usp54	G	A	14: 20,633,419 (GRCm39)	T372I	possibly damaging	Het
Wdr24	T	C	17: 26,046,102 (GRCm39)	S476P	probably benign	Het
Zbtb1	T	C	12: 76,433,049 (GRCm39)	I345T	possibly damaging	Het
Zcrb1	T	A	15: 93,293,496 (GRCm39)	I29L	probably benign	Het
Zfp341	T	A	2: 154,472,361 (GRCm39)	C315S	probably damaging	Het
Zfp623	C	A	15: 75,820,012 (GRCm39)	R323S	probably benign	Het
Zfp831	T	A	2: 174,485,885 (GRCm39)	Y187N	possibly damaging	Het

Other mutations in Fcrl5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01743:Fcrl5	APN	3	87,351,598 (GRCm39)	missense	probably damaging	0.96
IGL01868:Fcrl5	APN	3	87,351,014 (GRCm39)	missense	possibly damaging	0.58
IGL01939:Fcrl5	APN	3	87,353,606 (GRCm39)	missense	probably damaging	0.99
IGL02817:Fcrl5	APN	3	87,343,220 (GRCm39)	missense	probably benign	0.35
IGL03106:Fcrl5	APN	3	87,343,190 (GRCm39)	splice site	probably null
R0381:Fcrl5	UTSW	3	87,353,767 (GRCm39)	missense	probably damaging	1.00
R0523:Fcrl5	UTSW	3	87,365,099 (GRCm39)	missense	possibly damaging	0.72
R0646:Fcrl5	UTSW	3	87,349,320 (GRCm39)	missense	probably benign	0.00
R1231:Fcrl5	UTSW	3	87,349,486 (GRCm39)	missense	probably benign	0.13
R1353:Fcrl5	UTSW	3	87,355,669 (GRCm39)	missense	probably damaging	1.00
R1711:Fcrl5	UTSW	3	87,364,721 (GRCm39)	missense	possibly damaging	0.61
R1714:Fcrl5	UTSW	3	87,353,713 (GRCm39)	missense	probably damaging	1.00
R1719:Fcrl5	UTSW	3	87,364,704 (GRCm39)	missense	probably damaging	0.98
R2084:Fcrl5	UTSW	3	87,351,537 (GRCm39)	missense	probably benign	0.24
R2358:Fcrl5	UTSW	3	87,353,726 (GRCm39)	missense	probably damaging	0.99
R2884:Fcrl5	UTSW	3	87,364,698 (GRCm39)	missense	probably damaging	1.00
R2885:Fcrl5	UTSW	3	87,364,698 (GRCm39)	missense	probably damaging	1.00
R3085:Fcrl5	UTSW	3	87,353,771 (GRCm39)	missense	probably damaging	1.00
R3153:Fcrl5	UTSW	3	87,350,987 (GRCm39)	missense	probably benign	0.09
R4288:Fcrl5	UTSW	3	87,349,531 (GRCm39)	missense	probably benign	0.09
R4289:Fcrl5	UTSW	3	87,349,531 (GRCm39)	missense	probably benign	0.09
R4614:Fcrl5	UTSW	3	87,355,733 (GRCm39)	missense	probably damaging	1.00
R4719:Fcrl5	UTSW	3	87,351,496 (GRCm39)	missense	probably damaging	1.00
R4788:Fcrl5	UTSW	3	87,364,495 (GRCm39)	missense	probably damaging	1.00
R4920:Fcrl5	UTSW	3	87,351,480 (GRCm39)	missense	probably damaging	1.00
R4972:Fcrl5	UTSW	3	87,361,957 (GRCm39)	missense	probably benign	0.00
R5373:Fcrl5	UTSW	3	87,353,698 (GRCm39)	missense	probably benign	0.01
R5374:Fcrl5	UTSW	3	87,353,698 (GRCm39)	missense	probably benign	0.01
R5963:Fcrl5	UTSW	3	87,351,480 (GRCm39)	missense	probably damaging	1.00
R6022:Fcrl5	UTSW	3	87,363,070 (GRCm39)	missense	probably benign	0.42
R6267:Fcrl5	UTSW	3	87,355,631 (GRCm39)	missense	probably damaging	1.00
R6372:Fcrl5	UTSW	3	87,351,501 (GRCm39)	nonsense	probably null
R6393:Fcrl5	UTSW	3	87,355,634 (GRCm39)	missense	probably damaging	1.00
R7088:Fcrl5	UTSW	3	87,365,141 (GRCm39)	makesense	probably null
R7175:Fcrl5	UTSW	3	87,353,645 (GRCm39)	missense	probably benign	0.37
R7210:Fcrl5	UTSW	3	87,353,719 (GRCm39)	missense	possibly damaging	0.85
R7217:Fcrl5	UTSW	3	87,351,081 (GRCm39)	missense	probably damaging	1.00
R7243:Fcrl5	UTSW	3	87,349,552 (GRCm39)	missense	probably benign
R7776:Fcrl5	UTSW	3	87,351,502 (GRCm39)	missense	possibly damaging	0.84
R7813:Fcrl5	UTSW	3	87,350,930 (GRCm39)	missense	probably benign	0.09
R8357:Fcrl5	UTSW	3	87,351,567 (GRCm39)	missense	probably damaging	0.99
R8457:Fcrl5	UTSW	3	87,351,567 (GRCm39)	missense	probably damaging	0.99
R9257:Fcrl5	UTSW	3	87,343,195 (GRCm39)	missense	probably benign	0.11
R9276:Fcrl5	UTSW	3	87,343,138 (GRCm39)	start gained	probably benign
R9748:Fcrl5	UTSW	3	87,364,469 (GRCm39)	missense	possibly damaging	0.93
X0054:Fcrl5	UTSW	3	87,353,606 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2017-03-31