Mutagenetix > Incidental Mutation

Incidental Mutation 'R4529:Fcamr'

333019

Institutional Source

Beutler Lab

Gene Symbol

Fcamr

Ensembl Gene

ENSMUSG00000026415

Gene Name

Fc receptor, IgA, IgM, high affinity

Synonyms

MMRRC Submission

041592-MU

Accession Numbers

Essential gene?

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

Stock #

R4529 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

130728639-130742477 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 130732313 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 44 (H44R)

Ref Sequence

ENSEMBL: ENSMUSP00000027670 (fasta)

Gene Model

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

AlphaFold

Q2TB54

Predicted Effect

probably damaging
Transcript: ENSMUST00000027670
AA Change: H44R

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000027670
Gene: ENSMUSG00000026415
AA Change: H44R

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: H100R

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000108096
Gene: ENSMUSG00000026415
AA Change: H100R

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre1	A	G	17: 57,727,519 (GRCm39)	Y483C	possibly damaging	Het
Akap9	T	A	5: 4,093,948 (GRCm39)	F2157I	probably damaging	Het
Aldh1a3	T	C	7: 66,051,742 (GRCm39)	N404D	probably benign	Het
Ankrd2	A	T	19: 42,032,240 (GRCm39)	I231F	probably benign	Het
Apba1	A	G	19: 23,913,899 (GRCm39)	N641D	probably damaging	Het
C1qbp	T	C	11: 70,869,550 (GRCm39)	T178A	probably benign	Het
Chtf18	T	C	17: 25,939,592 (GRCm39)	Y64C	probably damaging	Het
Cyp1a1	A	G	9: 57,608,962 (GRCm39)	H281R	probably benign	Het
Ehmt2	A	G	17: 35,132,707 (GRCm39)	I1235V	probably damaging	Het
Gm12185	T	C	11: 48,798,747 (GRCm39)	Y582C	probably damaging	Het
Gm12185	T	C	11: 48,798,921 (GRCm39)	N524S	possibly damaging	Het
Gm5460	A	C	14: 33,767,769 (GRCm39)	D459A	probably damaging	Het
H2-Q6	C	T	17: 35,644,820 (GRCm39)	T203I	probably null	Het
Inmt	T	C	6: 55,148,012 (GRCm39)	M206V	probably benign	Het
Khdc3	T	C	9: 73,011,301 (GRCm39)	S360P	possibly damaging	Het
Lin54	G	A	5: 100,594,419 (GRCm39)	T582I	possibly damaging	Het
Ltbp1	T	G	17: 75,458,355 (GRCm39)	V312G	probably benign	Het
Nlrp9a	T	C	7: 26,270,832 (GRCm39)	L899P	probably damaging	Het
Or6c1b	T	C	10: 129,273,287 (GRCm39)	V202A	probably benign	Het
Orc4	G	A	2: 48,827,501 (GRCm39)	P31S	probably benign	Het
Pabir3	G	A	X: 52,382,376 (GRCm39)	R94H	possibly damaging	Het
Pappa	A	G	4: 65,149,419 (GRCm39)	I920V	probably benign	Het
Parp1	T	A	1: 180,418,877 (GRCm39)	V679E	probably damaging	Het
Pla2g4f	C	T	2: 120,131,100 (GRCm39)	R785Q	probably damaging	Het
Plbd1	T	A	6: 136,628,823 (GRCm39)	I82F	probably benign	Het
Plekhm3	A	G	1: 64,976,984 (GRCm39)	V162A	probably benign	Het
Plin4	A	G	17: 56,411,274 (GRCm39)	L919P	probably damaging	Het
Plxna4	C	T	6: 32,473,831 (GRCm39)		probably null	Het
Pou3f3	C	A	1: 42,737,714 (GRCm39)	T470K	probably benign	Het
Prss38	T	C	11: 59,264,325 (GRCm39)	Y214C	probably damaging	Het
Retreg1	T	A	15: 25,968,600 (GRCm39)	Y109N	probably damaging	Het
Slco1c1	A	G	6: 141,500,907 (GRCm39)	Y413C	probably damaging	Het
Stk32a	T	C	18: 43,376,044 (GRCm39)	C38R	possibly damaging	Het
Themis	T	C	10: 28,658,331 (GRCm39)	F453L	possibly damaging	Het
Tmem38a	C	T	8: 73,326,005 (GRCm39)	P20S	possibly damaging	Het
Tubgcp3	G	T	8: 12,713,932 (GRCm39)	L62I	probably damaging	Het
Ubqlnl	C	T	7: 103,798,925 (GRCm39)	V191M	probably benign	Het
Xpo7	G	A	14: 70,906,188 (GRCm39)	T986M	probably damaging	Het
Zfp51	C	T	17: 21,684,998 (GRCm39)	L538F	probably damaging	Het
Zfy1	A	G	Y: 726,511 (GRCm39)	L418S	possibly damaging	Het

Other mutations in Fcamr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00840:Fcamr	APN	1	130,740,951 (GRCm39)	missense	probably benign	0.01
IGL02880:Fcamr	APN	1	130,741,071 (GRCm39)	missense	probably benign	0.00
IGL03199:Fcamr	APN	1	130,740,655 (GRCm39)	missense	probably damaging	1.00
IGL03392:Fcamr	APN	1	130,728,685 (GRCm39)	utr 5 prime	probably benign
IGL03398:Fcamr	APN	1	130,730,985 (GRCm39)	missense	probably damaging	0.97
R1101:Fcamr	UTSW	1	130,742,223 (GRCm39)	splice site	probably null
R1312:Fcamr	UTSW	1	130,739,224 (GRCm39)	missense	probably damaging	1.00
R1351:Fcamr	UTSW	1	130,740,757 (GRCm39)	missense	possibly damaging	0.83
R1387:Fcamr	UTSW	1	130,732,379 (GRCm39)	missense	possibly damaging	0.85
R1475:Fcamr	UTSW	1	130,742,221 (GRCm39)	splice site	probably null
R1728:Fcamr	UTSW	1	130,740,553 (GRCm39)	missense	probably benign	0.41
R1728:Fcamr	UTSW	1	130,742,334 (GRCm39)	missense	probably benign
R1728:Fcamr	UTSW	1	130,732,306 (GRCm39)	missense	probably benign	0.06
R1728:Fcamr	UTSW	1	130,732,364 (GRCm39)	missense	probably benign	0.00
R1728:Fcamr	UTSW	1	130,739,317 (GRCm39)	missense	probably benign
R1728:Fcamr	UTSW	1	130,740,366 (GRCm39)	missense	probably benign	0.38
R1728:Fcamr	UTSW	1	130,740,429 (GRCm39)	missense	probably benign
R1728:Fcamr	UTSW	1	130,740,475 (GRCm39)	missense	probably benign	0.00
R1728:Fcamr	UTSW	1	130,740,546 (GRCm39)	missense	probably benign	0.02
R1729:Fcamr	UTSW	1	130,742,334 (GRCm39)	missense	probably benign
R1729:Fcamr	UTSW	1	130,732,364 (GRCm39)	missense	probably benign	0.00
R1729:Fcamr	UTSW	1	130,739,317 (GRCm39)	missense	probably benign
R1729:Fcamr	UTSW	1	130,740,366 (GRCm39)	missense	probably benign	0.38
R1729:Fcamr	UTSW	1	130,740,429 (GRCm39)	missense	probably benign
R1729:Fcamr	UTSW	1	130,740,475 (GRCm39)	missense	probably benign	0.00
R1729:Fcamr	UTSW	1	130,740,546 (GRCm39)	missense	probably benign	0.02
R1729:Fcamr	UTSW	1	130,740,553 (GRCm39)	missense	probably benign	0.41
R1730:Fcamr	UTSW	1	130,740,366 (GRCm39)	missense	probably benign	0.38
R1730:Fcamr	UTSW	1	130,740,429 (GRCm39)	missense	probably benign
R1730:Fcamr	UTSW	1	130,740,475 (GRCm39)	missense	probably benign	0.00
R1730:Fcamr	UTSW	1	130,740,546 (GRCm39)	missense	probably benign	0.02
R1730:Fcamr	UTSW	1	130,740,553 (GRCm39)	missense	probably benign	0.41
R1730:Fcamr	UTSW	1	130,742,334 (GRCm39)	missense	probably benign
R1730:Fcamr	UTSW	1	130,739,317 (GRCm39)	missense	probably benign
R1739:Fcamr	UTSW	1	130,732,364 (GRCm39)	missense	probably benign	0.00
R1739:Fcamr	UTSW	1	130,739,317 (GRCm39)	missense	probably benign
R1739:Fcamr	UTSW	1	130,740,366 (GRCm39)	missense	probably benign	0.38
R1739:Fcamr	UTSW	1	130,740,429 (GRCm39)	missense	probably benign
R1739:Fcamr	UTSW	1	130,740,475 (GRCm39)	missense	probably benign	0.00
R1739:Fcamr	UTSW	1	130,740,546 (GRCm39)	missense	probably benign	0.02
R1739:Fcamr	UTSW	1	130,740,553 (GRCm39)	missense	probably benign	0.41
R1739:Fcamr	UTSW	1	130,742,334 (GRCm39)	missense	probably benign
R1762:Fcamr	UTSW	1	130,732,364 (GRCm39)	missense	probably benign	0.00
R1762:Fcamr	UTSW	1	130,739,317 (GRCm39)	missense	probably benign
R1762:Fcamr	UTSW	1	130,740,366 (GRCm39)	missense	probably benign	0.38
R1762:Fcamr	UTSW	1	130,740,429 (GRCm39)	missense	probably benign
R1762:Fcamr	UTSW	1	130,740,475 (GRCm39)	missense	probably benign	0.00
R1762:Fcamr	UTSW	1	130,740,546 (GRCm39)	missense	probably benign	0.02
R1762:Fcamr	UTSW	1	130,740,553 (GRCm39)	missense	probably benign	0.41
R1762:Fcamr	UTSW	1	130,742,334 (GRCm39)	missense	probably benign
R1783:Fcamr	UTSW	1	130,740,553 (GRCm39)	missense	probably benign	0.41
R1783:Fcamr	UTSW	1	130,742,334 (GRCm39)	missense	probably benign
R1783:Fcamr	UTSW	1	130,740,546 (GRCm39)	missense	probably benign	0.02
R1783:Fcamr	UTSW	1	130,740,475 (GRCm39)	missense	probably benign	0.00
R1783:Fcamr	UTSW	1	130,740,429 (GRCm39)	missense	probably benign
R1783:Fcamr	UTSW	1	130,740,366 (GRCm39)	missense	probably benign	0.38
R1783:Fcamr	UTSW	1	130,739,317 (GRCm39)	missense	probably benign
R1783:Fcamr	UTSW	1	130,732,364 (GRCm39)	missense	probably benign	0.00
R1784:Fcamr	UTSW	1	130,742,334 (GRCm39)	missense	probably benign
R1784:Fcamr	UTSW	1	130,740,553 (GRCm39)	missense	probably benign	0.41
R1784:Fcamr	UTSW	1	130,740,546 (GRCm39)	missense	probably benign	0.02
R1784:Fcamr	UTSW	1	130,740,475 (GRCm39)	missense	probably benign	0.00
R1784:Fcamr	UTSW	1	130,740,429 (GRCm39)	missense	probably benign
R1784:Fcamr	UTSW	1	130,740,366 (GRCm39)	missense	probably benign	0.38
R1784:Fcamr	UTSW	1	130,739,317 (GRCm39)	missense	probably benign
R1784:Fcamr	UTSW	1	130,732,364 (GRCm39)	missense	probably benign	0.00
R1785:Fcamr	UTSW	1	130,740,546 (GRCm39)	missense	probably benign	0.02
R1785:Fcamr	UTSW	1	130,740,475 (GRCm39)	missense	probably benign	0.00
R1785:Fcamr	UTSW	1	130,740,429 (GRCm39)	missense	probably benign
R1785:Fcamr	UTSW	1	130,740,366 (GRCm39)	missense	probably benign	0.38
R1785:Fcamr	UTSW	1	130,739,317 (GRCm39)	missense	probably benign
R1785:Fcamr	UTSW	1	130,732,364 (GRCm39)	missense	probably benign	0.00
R1785:Fcamr	UTSW	1	130,732,306 (GRCm39)	missense	probably benign	0.06
R1785:Fcamr	UTSW	1	130,742,334 (GRCm39)	missense	probably benign
R1785:Fcamr	UTSW	1	130,740,553 (GRCm39)	missense	probably benign	0.41
R1793:Fcamr	UTSW	1	130,739,284 (GRCm39)	missense	probably benign	0.03
R2085:Fcamr	UTSW	1	130,739,335 (GRCm39)	missense	probably damaging	1.00
R3937:Fcamr	UTSW	1	130,732,313 (GRCm39)	missense	probably damaging	0.97
R4624:Fcamr	UTSW	1	130,730,999 (GRCm39)	missense	probably damaging	0.99
R4822:Fcamr	UTSW	1	130,740,423 (GRCm39)	missense	possibly damaging	0.82
R5055:Fcamr	UTSW	1	130,739,174 (GRCm39)	missense	probably damaging	1.00
R5514:Fcamr	UTSW	1	130,741,793 (GRCm39)	missense	probably damaging	1.00
R5807:Fcamr	UTSW	1	130,739,263 (GRCm39)	missense	probably damaging	1.00
R6077:Fcamr	UTSW	1	130,740,663 (GRCm39)	missense	probably damaging	1.00
R6200:Fcamr	UTSW	1	130,730,927 (GRCm39)	missense	probably benign	0.16
R6653:Fcamr	UTSW	1	130,740,939 (GRCm39)	missense	possibly damaging	0.89
R7081:Fcamr	UTSW	1	130,740,949 (GRCm39)	missense	probably damaging	1.00
R7362:Fcamr	UTSW	1	130,741,760 (GRCm39)	missense	possibly damaging	0.52
R7828:Fcamr	UTSW	1	130,739,443 (GRCm39)	missense	probably damaging	1.00
R7861:Fcamr	UTSW	1	130,742,375 (GRCm39)	missense	probably benign
R8188:Fcamr	UTSW	1	130,730,665 (GRCm39)	splice site	probably null
R8869:Fcamr	UTSW	1	130,739,335 (GRCm39)	missense	probably damaging	1.00
R8907:Fcamr	UTSW	1	130,740,328 (GRCm39)	missense	probably damaging	1.00
R9568:Fcamr	UTSW	1	130,732,356 (GRCm39)	missense	probably damaging	0.99
X0012:Fcamr	UTSW	1	130,740,471 (GRCm39)	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

2015-08-18