Mutagenetix > Incidental Mutations

Incidental Mutation 'R3937:Fcamr'

307199

Institutional Source

Beutler Lab

Gene Symbol

Fcamr

Ensembl Gene

ENSMUSG00000026415

Gene Name

Fc receptor, IgA, IgM, high affinity

Synonyms

MMRRC Submission

040921-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

R3937 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130800902-130814740 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 130804576 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 44 (H44L)

Ref Sequence

ENSEMBL: ENSMUSP00000027670 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027670] [ENSMUST00000112477]

Predicted Effect

probably damaging
Transcript: ENSMUST00000027670
AA Change: H44L

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000027670
Gene: ENSMUSG00000026415
AA Change: H44L

Domain	Start	End	E-Value	Type
signal peptide	1	36	N/A	INTRINSIC
IG	87	191	1.19e-5	SMART
low complexity region	208	220	N/A	INTRINSIC
low complexity region	241	253	N/A	INTRINSIC
transmembrane domain	456	475	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000112477
AA Change: H100L

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000108096
Gene: ENSMUSG00000026415
AA Change: H100L

Domain	Start	End	E-Value	Type
low complexity region	80	87	N/A	INTRINSIC
IG	143	247	1.19e-5	SMART
low complexity region	264	276	N/A	INTRINSIC
low complexity region	297	309	N/A	INTRINSIC
transmembrane domain	512	531	N/A	INTRINSIC

Meta Mutation Damage Score

0.1845

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (60/60)

MGI Phenotype

PHENOTYPE: Homozygous null mice have enhanced germinal center formation, affinity maturation and memory induction of IgG3 producing B cells after immunization with T cell-independent antigens. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	G	4: 147,942,053	S343R	possibly damaging	Het
Abca8b	G	T	11: 109,974,567	P355T	probably benign	Het
Abhd15	T	C	11: 77,515,938	V247A	probably benign	Het
Adamts1	C	T	16: 85,795,619	V634M	possibly damaging	Het
BC049715	T	C	6: 136,840,455	I231T	possibly damaging	Het
Chpf	A	T	1: 75,477,540	V198E	probably damaging	Het
Cp	C	T	3: 19,971,034	P386S	probably damaging	Het
Cth	A	G	3: 157,920,040	I107T	possibly damaging	Het
Ctrc	T	C	4: 141,840,321	D157G	probably damaging	Het
D630003M21Rik	A	G	2: 158,200,360	Y889H	probably damaging	Het
Elavl3	A	G	9: 22,018,744	V288A	probably damaging	Het
Esyt3	A	T	9: 99,336,192	I130K	probably benign	Het
F13a1	A	T	13: 36,916,901	V423D	probably damaging	Het
Faf1	T	C	4: 109,757,692		probably benign	Het
Fam227b	A	T	2: 126,127,060	D31E	probably benign	Het
Fastkd2	A	G	1: 63,737,836	D377G	possibly damaging	Het
Fbxl6	G	A	15: 76,536,624	R384*	probably null	Het
Fhod3	A	G	18: 25,090,761	N1055D	probably benign	Het
Garem1	A	T	18: 21,148,806	Y164*	probably null	Het
Gemin4	C	T	11: 76,212,888	C349Y	probably damaging	Het
Gnal	A	G	18: 67,135,370		probably null	Het
Hacl1	T	C	14: 31,634,191		probably benign	Het
Hectd3	T	C	4: 116,998,530	V409A	probably benign	Het
Hps6	A	G	19: 46,004,053	E143G	probably damaging	Het
Hspa4	T	A	11: 53,270,949	I459L	probably benign	Het
Ighv3-6	G	A	12: 114,288,441	Q21*	probably null	Het
Ints3	G	A	3: 90,403,987	R438*	probably null	Het
Jmjd6	T	C	11: 116,841,165	N237D	probably benign	Het
Lrrk2	C	A	15: 91,778,504	T1912K	probably damaging	Het
Mdga2	C	A	12: 67,221,206		probably benign	Het
Mroh2a	A	G	1: 88,258,664	S64G	probably benign	Het
Myh6	T	C	14: 54,963,055	D203G	probably benign	Het
Myo5b	T	C	18: 74,716,037	S1116P	probably damaging	Het
Nalcn	T	A	14: 123,369,945	D704V	probably benign	Het
Nes	A	T	3: 87,971,236	M12L	probably benign	Het
Olfr1052	T	A	2: 86,298,016	S67T	probably damaging	Het
Olfr118	A	G	17: 37,672,967	T315A	probably benign	Het
Olfr1328	T	C	4: 118,934,683	D53G	probably damaging	Het
Olfr453	T	A	6: 42,744,076	I13N	probably damaging	Het
Pcdha2	T	C	18: 36,941,323	V669A	probably benign	Het
Pdhx	T	C	2: 103,022,219	N433S	probably damaging	Het
Pip5kl1	A	G	2: 32,579,112	R261G	probably damaging	Het
Plekhj1	A	G	10: 80,797,775	I76T	probably damaging	Het
Ppp1r3a	A	T	6: 14,719,074	S614T	probably damaging	Het
Ptpru	T	C	4: 131,774,304	N1207S	probably damaging	Het
Ranbp2	T	C	10: 58,476,472	F1005L	probably benign	Het
Rims2	A	G	15: 39,437,845	E324G	probably damaging	Het
Sema6d	A	T	2: 124,656,850	I227L	probably benign	Het
Smarcad1	T	G	6: 65,114,336	L1014V	probably damaging	Het
Spag9	T	C	11: 94,044,417	V18A	possibly damaging	Het
Spag9	T	G	11: 94,044,479	S39A	possibly damaging	Het
Sun2	T	C	15: 79,734,155	K268E	probably benign	Het
Tbpl2	C	T	2: 24,087,139	R289Q	probably benign	Het
Tcea3	T	A	4: 136,255,143		probably benign	Het
Tmem185a	C	T	X: 70,462,186		probably null	Het
Tnrc6c	C	T	11: 117,723,529	R838W	probably damaging	Het
Vmn1r212	A	T	13: 22,883,188	V325E	unknown	Het
Vmn1r35	T	A	6: 66,679,073	R204S	probably damaging	Het
Vmn2r57	A	G	7: 41,428,130	M204T	probably damaging	Het
Wdfy3	A	T	5: 101,944,239	Y411*	probably null	Het
Zfp335	G	T	2: 164,910,700	D41E	probably damaging	Het

Other mutations in Fcamr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00840:Fcamr	APN	1	130813214	missense	probably benign	0.01
IGL02880:Fcamr	APN	1	130813334	missense	probably benign	0.00
IGL03199:Fcamr	APN	1	130812918	missense	probably damaging	1.00
IGL03392:Fcamr	APN	1	130800948	utr 5 prime	probably benign
IGL03398:Fcamr	APN	1	130803248	missense	probably damaging	0.97
R1101:Fcamr	UTSW	1	130814486	splice site	probably null
R1312:Fcamr	UTSW	1	130811487	missense	probably damaging	1.00
R1351:Fcamr	UTSW	1	130813020	missense	possibly damaging	0.83
R1387:Fcamr	UTSW	1	130804642	missense	possibly damaging	0.85
R1475:Fcamr	UTSW	1	130814484	splice site	probably null
R1728:Fcamr	UTSW	1	130804569	missense	probably benign	0.06
R1728:Fcamr	UTSW	1	130804627	missense	probably benign	0.00
R1728:Fcamr	UTSW	1	130811580	missense	probably benign
R1728:Fcamr	UTSW	1	130812629	missense	probably benign	0.38
R1728:Fcamr	UTSW	1	130812692	missense	probably benign
R1728:Fcamr	UTSW	1	130812738	missense	probably benign	0.00
R1728:Fcamr	UTSW	1	130812809	missense	probably benign	0.02
R1728:Fcamr	UTSW	1	130812816	missense	probably benign	0.41
R1728:Fcamr	UTSW	1	130814597	missense	probably benign
R1729:Fcamr	UTSW	1	130804627	missense	probably benign	0.00
R1729:Fcamr	UTSW	1	130811580	missense	probably benign
R1729:Fcamr	UTSW	1	130812629	missense	probably benign	0.38
R1729:Fcamr	UTSW	1	130812692	missense	probably benign
R1729:Fcamr	UTSW	1	130812738	missense	probably benign	0.00
R1729:Fcamr	UTSW	1	130812809	missense	probably benign	0.02
R1729:Fcamr	UTSW	1	130812816	missense	probably benign	0.41
R1729:Fcamr	UTSW	1	130814597	missense	probably benign
R1730:Fcamr	UTSW	1	130811580	missense	probably benign
R1730:Fcamr	UTSW	1	130812629	missense	probably benign	0.38
R1730:Fcamr	UTSW	1	130812692	missense	probably benign
R1730:Fcamr	UTSW	1	130812738	missense	probably benign	0.00
R1730:Fcamr	UTSW	1	130812809	missense	probably benign	0.02
R1730:Fcamr	UTSW	1	130812816	missense	probably benign	0.41
R1730:Fcamr	UTSW	1	130814597	missense	probably benign
R1739:Fcamr	UTSW	1	130804627	missense	probably benign	0.00
R1739:Fcamr	UTSW	1	130811580	missense	probably benign
R1739:Fcamr	UTSW	1	130812629	missense	probably benign	0.38
R1739:Fcamr	UTSW	1	130812692	missense	probably benign
R1739:Fcamr	UTSW	1	130812738	missense	probably benign	0.00
R1739:Fcamr	UTSW	1	130812809	missense	probably benign	0.02
R1739:Fcamr	UTSW	1	130812816	missense	probably benign	0.41
R1739:Fcamr	UTSW	1	130814597	missense	probably benign
R1762:Fcamr	UTSW	1	130804627	missense	probably benign	0.00
R1762:Fcamr	UTSW	1	130811580	missense	probably benign
R1762:Fcamr	UTSW	1	130812629	missense	probably benign	0.38
R1762:Fcamr	UTSW	1	130812692	missense	probably benign
R1762:Fcamr	UTSW	1	130812738	missense	probably benign	0.00
R1762:Fcamr	UTSW	1	130812809	missense	probably benign	0.02
R1762:Fcamr	UTSW	1	130812816	missense	probably benign	0.41
R1762:Fcamr	UTSW	1	130814597	missense	probably benign
R1783:Fcamr	UTSW	1	130804627	missense	probably benign	0.00
R1783:Fcamr	UTSW	1	130811580	missense	probably benign
R1783:Fcamr	UTSW	1	130812629	missense	probably benign	0.38
R1783:Fcamr	UTSW	1	130812692	missense	probably benign
R1783:Fcamr	UTSW	1	130812738	missense	probably benign	0.00
R1783:Fcamr	UTSW	1	130812809	missense	probably benign	0.02
R1783:Fcamr	UTSW	1	130812816	missense	probably benign	0.41
R1783:Fcamr	UTSW	1	130814597	missense	probably benign
R1784:Fcamr	UTSW	1	130804627	missense	probably benign	0.00
R1784:Fcamr	UTSW	1	130811580	missense	probably benign
R1784:Fcamr	UTSW	1	130812629	missense	probably benign	0.38
R1784:Fcamr	UTSW	1	130812692	missense	probably benign
R1784:Fcamr	UTSW	1	130812738	missense	probably benign	0.00
R1784:Fcamr	UTSW	1	130812809	missense	probably benign	0.02
R1784:Fcamr	UTSW	1	130812816	missense	probably benign	0.41
R1784:Fcamr	UTSW	1	130814597	missense	probably benign
R1785:Fcamr	UTSW	1	130804569	missense	probably benign	0.06
R1785:Fcamr	UTSW	1	130804627	missense	probably benign	0.00
R1785:Fcamr	UTSW	1	130811580	missense	probably benign
R1785:Fcamr	UTSW	1	130812629	missense	probably benign	0.38
R1785:Fcamr	UTSW	1	130812692	missense	probably benign
R1785:Fcamr	UTSW	1	130812738	missense	probably benign	0.00
R1785:Fcamr	UTSW	1	130812809	missense	probably benign	0.02
R1785:Fcamr	UTSW	1	130812816	missense	probably benign	0.41
R1785:Fcamr	UTSW	1	130814597	missense	probably benign
R1793:Fcamr	UTSW	1	130811547	missense	probably benign	0.03
R2085:Fcamr	UTSW	1	130811598	missense	probably damaging	1.00
R4529:Fcamr	UTSW	1	130804576	missense	probably damaging	0.99
R4624:Fcamr	UTSW	1	130803262	missense	probably damaging	0.99
R4822:Fcamr	UTSW	1	130812686	missense	possibly damaging	0.82
R5055:Fcamr	UTSW	1	130811437	missense	probably damaging	1.00
R5514:Fcamr	UTSW	1	130814056	missense	probably damaging	1.00
R5807:Fcamr	UTSW	1	130811526	missense	probably damaging	1.00
R6077:Fcamr	UTSW	1	130812926	missense	probably damaging	1.00
R6200:Fcamr	UTSW	1	130803190	missense	probably benign	0.16
R6653:Fcamr	UTSW	1	130813202	missense	possibly damaging	0.89
R7081:Fcamr	UTSW	1	130813212	missense	probably damaging	1.00
R7362:Fcamr	UTSW	1	130814023	missense	possibly damaging	0.52
R7828:Fcamr	UTSW	1	130811706	missense	probably damaging	1.00
R7861:Fcamr	UTSW	1	130814638	missense	probably benign
R8188:Fcamr	UTSW	1	130802928	splice site	probably null
X0012:Fcamr	UTSW	1	130812734	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- CATTAAGAGGTGTAGTCTTTGGCTC -3'
(R):5'- ACTGCAGGCCTTATACTGGG -3'

Sequencing Primer
(F):5'- TACCCAGCAGATTTAGAGTGAGC -3'
(R):5'- CTGCAGGCCTTATACTGGGATAAGAC -3'

Posted On

2015-04-17