Mutagenetix > Incidental Mutation

Incidental Mutation 'R0523:Fcrl5'

48681

Institutional Source

Beutler Lab

Gene Symbol

Fcrl5

Ensembl Gene

ENSMUSG00000048031

Gene Name

Fc receptor-like 5

Synonyms

Fcrh3, BXMAS1-like protein 2, mBXMH2

MMRRC Submission

038716-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R0523 (G1)

Quality Score

162

Status

Not validated

Chromosome

Chromosomal Location

87343084-87407985 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87365099 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 583 (S583P)

Ref Sequence

ENSEMBL: ENSMUSP00000136046 (fasta)

Gene Model

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

AlphaFold

Q68SN8

Predicted Effect

probably benign
Transcript: ENSMUST00000049926
AA Change: S583P

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000050151
Gene: ENSMUSG00000048031
AA Change: S583P

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
AA Change: S495P

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

SMART Domains

Protein: ENSMUSP00000131176
Gene: ENSMUSG00000048031
AA Change: S495P

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: S583P

PolyPhen 2 Score 0.720 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000136046
Gene: ENSMUSG00000048031
AA Change: S583P

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
AA Change: S495P

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

SMART Domains

Protein: ENSMUSP00000141311
Gene: ENSMUSG00000048031
AA Change: S495P

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: S583P

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000142210
Gene: ENSMUSG00000048031
AA Change: S583P

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: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.7%

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 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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,535,289 (GRCm39)	D807G	possibly damaging	Het
Actl9	T	A	17: 33,652,323 (GRCm39)	W128R	probably damaging	Het
Aggf1	T	C	13: 95,492,924 (GRCm39)	I562V	probably damaging	Het
Ano3	T	A	2: 110,715,200 (GRCm39)	E79D	probably benign	Het
Apobec1	T	A	6: 122,558,504 (GRCm39)	I84F	probably damaging	Het
Atp6v1b2	T	C	8: 69,562,637 (GRCm39)	F458L	possibly damaging	Het
Bco2	A	T	9: 50,445,926 (GRCm39)	V490E	probably damaging	Het
Catsperg1	G	A	7: 28,884,615 (GRCm39)		probably benign	Het
Cdc37	T	C	9: 21,054,292 (GRCm39)	K111R	probably damaging	Het
Cfap54	T	C	10: 92,744,745 (GRCm39)		probably benign	Het
Cfap91	G	A	16: 38,148,736 (GRCm39)	P231S	probably damaging	Het
Cplane1	T	A	15: 8,223,870 (GRCm39)	Y878N	probably damaging	Het
Cpox	T	A	16: 58,495,608 (GRCm39)	C308*	probably null	Het
Cracdl	A	T	1: 37,683,710 (GRCm39)	M1K	probably null	Het
Ctnna3	T	G	10: 64,511,688 (GRCm39)	M626R	probably damaging	Het
Cyp2c68	T	C	19: 39,727,873 (GRCm39)	E93G	probably benign	Het
Cyp2s1	G	A	7: 25,505,475 (GRCm39)	R330W	probably damaging	Het
Diaph1	C	T	18: 37,989,553 (GRCm39)	V860I	possibly damaging	Het
Dicer1	A	G	12: 104,668,750 (GRCm39)	S1311P	probably damaging	Het
Dpyd	G	A	3: 118,692,852 (GRCm39)	R332K	probably benign	Het
E130308A19Rik	G	A	4: 59,719,716 (GRCm39)	R416H	probably damaging	Het
Eef1d	T	C	15: 75,775,005 (GRCm39)	D218G	probably benign	Het
Eif2ak1	T	C	5: 143,818,984 (GRCm39)	V215A	probably damaging	Het
Eif2ak4	T	C	2: 118,272,577 (GRCm39)		probably null	Het
Garin5b	A	G	7: 4,762,392 (GRCm39)	S246P	possibly damaging	Het
Grid2ip	C	A	5: 143,358,798 (GRCm39)	Q29K	possibly damaging	Het
Htr1f	A	T	16: 64,746,262 (GRCm39)	N343K	probably damaging	Het
Hvcn1	T	C	5: 122,354,428 (GRCm39)		probably null	Het
Igf2r	T	C	17: 12,910,951 (GRCm39)	I1956V	probably benign	Het
Impdh2	A	T	9: 108,439,018 (GRCm39)		probably null	Het
Impdh2	C	T	9: 108,439,019 (GRCm39)	T96I	possibly damaging	Het
Lactb	C	G	9: 66,877,974 (GRCm39)	G285A	probably benign	Het
Lrrc43	T	C	5: 123,639,305 (GRCm39)	S445P	probably damaging	Het
Mapk12	T	G	15: 89,019,848 (GRCm39)	M120L	probably benign	Het
Mroh8	C	G	2: 157,065,956 (GRCm39)	A669P	probably damaging	Het
Mrpl38	A	C	11: 116,022,844 (GRCm39)	H373Q	probably benign	Het
Myocd	A	G	11: 65,071,728 (GRCm39)	V740A	probably damaging	Het
Naprt	A	G	15: 75,764,314 (GRCm39)	F300S	probably damaging	Het
Ncam2	T	C	16: 81,258,531 (GRCm39)	I271T	probably damaging	Het
Nek4	A	G	14: 30,701,995 (GRCm39)	T582A	probably benign	Het
Notch2	C	T	3: 97,978,286 (GRCm39)	T89I	probably benign	Het
Notch2	G	A	3: 98,018,914 (GRCm39)	R692H	probably benign	Het
Nt5c3	A	T	6: 56,860,666 (GRCm39)	N296K	probably damaging	Het
Nt5c3b	T	A	11: 100,327,036 (GRCm39)	I87F	probably damaging	Het
Oas3	T	C	5: 120,904,209 (GRCm39)	Q555R	unknown	Het
Or2ag17	A	G	7: 106,389,533 (GRCm39)	V225A	probably damaging	Het
Or5p69	A	T	7: 107,967,438 (GRCm39)	H247L	probably damaging	Het
Or9g19	T	A	2: 85,600,273 (GRCm39)	S43T	probably benign	Het
P3h1	C	A	4: 119,098,727 (GRCm39)	Q410K	probably benign	Het
Pax3	A	G	1: 78,172,078 (GRCm39)	V44A	possibly damaging	Het
Pde1c	T	A	6: 56,151,926 (GRCm39)	L252F	probably damaging	Het
Pdzd7	T	A	19: 45,024,529 (GRCm39)	T497S	probably benign	Het
Piezo2	T	C	18: 63,155,552 (GRCm39)	T253A	probably damaging	Het
Pipox	T	C	11: 77,782,965 (GRCm39)	E79G	probably damaging	Het
Pole	G	T	5: 110,451,459 (GRCm39)	M829I	probably damaging	Het
Ppp1r12c	A	T	7: 4,492,771 (GRCm39)	L156Q	probably damaging	Het
Psme2b	T	G	11: 48,836,609 (GRCm39)	T113P	probably damaging	Het
Ptprq	A	G	10: 107,416,081 (GRCm39)	I1739T	possibly damaging	Het
Qser1	T	C	2: 104,620,021 (GRCm39)	T174A	probably damaging	Het
Rcor3	T	G	1: 191,814,736 (GRCm39)	D81A	probably damaging	Het
Rev3l	T	C	10: 39,724,045 (GRCm39)	V785A	probably benign	Het
Rnf11	T	C	4: 109,314,119 (GRCm39)	D90G	probably benign	Het
Sh3tc1	GCCTCCTCCTCCTCCTCC	GCCTCCTCCTCCTCC	5: 35,881,410 (GRCm39)		probably benign	Het
Smad2	T	A	18: 76,395,623 (GRCm39)	S21T	probably benign	Het
Smc4	A	G	3: 68,933,221 (GRCm39)	D639G	probably damaging	Het
Smtn	A	T	11: 3,474,664 (GRCm39)	S716T	possibly damaging	Het
Smug1	G	T	15: 103,064,136 (GRCm39)	Q262K	probably benign	Het
Sspo	G	T	6: 48,428,794 (GRCm39)	G403V	probably benign	Het
Tas2r131	A	G	6: 132,934,414 (GRCm39)	F132L	possibly damaging	Het
Tgm3	T	C	2: 129,886,582 (GRCm39)		probably null	Het
Tigd2	C	T	6: 59,187,358 (GRCm39)	T75M	probably benign	Het
Tnfrsf13b	T	C	11: 61,038,413 (GRCm39)	V232A	probably benign	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Trim47	A	G	11: 115,998,716 (GRCm39)	L301S	probably damaging	Het
Trim75	G	A	8: 65,436,442 (GRCm39)	H3Y	probably benign	Het
Trp53bp1	C	A	2: 121,082,349 (GRCm39)	A317S	probably null	Het
Tsbp1	G	T	17: 34,664,473 (GRCm39)		probably null	Het
Ttc29	G	C	8: 79,003,466 (GRCm39)	L227F	probably benign	Het
Ttc39d	G	A	17: 80,523,886 (GRCm39)	D182N	possibly damaging	Het
Ttll10	T	A	4: 156,129,818 (GRCm39)	R164*	probably null	Het
Ufsp2	T	A	8: 46,449,780 (GRCm39)	D447E	probably benign	Het
Ugt2b37	T	A	5: 87,399,691 (GRCm39)	L272F	possibly damaging	Het
Vps13b	T	C	15: 35,472,196 (GRCm39)	V833A	probably benign	Het
Zbbx	T	C	3: 74,989,165 (GRCm39)	T308A	probably benign	Het
Zfp933	G	A	4: 147,910,919 (GRCm39)	Q226*	probably null	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
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
R5975:Fcrl5	UTSW	3	87,349,410 (GRCm39)	missense	probably benign	0.00
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

PCR Primer
(F):5'- ATGACAGAGTCCCCTCTGAGCATC -3'
(R):5'- TCCAAAGCAGCCCTGCACTTTC -3'

Sequencing Primer
(F):5'- GCATCTGTGTCAGCACCTATAAG -3'
(R):5'- gcccatttaacacatcaaagcag -3'

Posted On

2013-06-12