Mutagenetix > Incidental Mutation

Incidental Mutation 'R1351:Fcamr'

156633

Institutional Source

Beutler Lab

Gene Symbol

Fcamr

Ensembl Gene

ENSMUSG00000026415

Gene Name

Fc receptor, IgA, IgM, high affinity

Synonyms

MMRRC Submission

039416-MU

Accession Numbers

Essential gene?

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

Stock #

R1351 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130728639-130742477 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 130740757 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 392 (T392I)

Ref Sequence

ENSEMBL: ENSMUSP00000108096 (fasta)

Gene Model

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

AlphaFold

Q2TB54

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027670
AA Change: T336I

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000027670
Gene: ENSMUSG00000026415
AA Change: T336I

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

possibly damaging
Transcript: ENSMUST00000112477
AA Change: T392I

PolyPhen 2 Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000108096
Gene: ENSMUSG00000026415
AA Change: T392I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122968

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125056

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136015

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

100% (51/51)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef26	A	G	3: 62,288,262 (GRCm39)	E444G	probably damaging	Het
Astl	G	A	2: 127,189,105 (GRCm39)	V144M	possibly damaging	Het
AW146154	A	T	7: 41,129,878 (GRCm39)	C413S	probably damaging	Het
Bicdl2	G	A	17: 23,886,519 (GRCm39)		probably benign	Het
Cacna1h	G	T	17: 25,610,925 (GRCm39)	S624R	probably benign	Het
Car9	G	T	4: 43,512,439 (GRCm39)		probably null	Het
Cep126	C	T	9: 8,100,087 (GRCm39)	E816K	probably damaging	Het
Cyp2j13	T	C	4: 95,945,155 (GRCm39)	K291R	probably benign	Het
Defb26	A	T	2: 152,349,737 (GRCm39)	M181K	unknown	Het
Dicer1	G	A	12: 104,695,401 (GRCm39)	R177C	probably damaging	Het
Eif4g2	A	G	7: 110,673,287 (GRCm39)	Y831H	probably damaging	Het
Ermap	C	T	4: 119,038,558 (GRCm39)		probably null	Het
Fgf3	T	C	7: 144,394,517 (GRCm39)		probably benign	Het
Gpr162	T	C	6: 124,838,161 (GRCm39)	Y163C	probably damaging	Het
Gprc5d	T	C	6: 135,093,230 (GRCm39)	R226G	possibly damaging	Het
Hapln3	A	C	7: 78,771,708 (GRCm39)	S60R	probably damaging	Het
Hif1a	T	C	12: 73,987,235 (GRCm39)	S443P	probably benign	Het
Irf2bpl	A	G	12: 86,929,398 (GRCm39)	M425T	probably benign	Het
Lrrc39	G	T	3: 116,359,469 (GRCm39)	A5S	possibly damaging	Het
Mbtps1	A	G	8: 120,244,901 (GRCm39)	L850S	possibly damaging	Het
Mios	T	A	6: 8,228,120 (GRCm39)	M679K	possibly damaging	Het
Mocos	T	C	18: 24,793,107 (GRCm39)	F68S	probably damaging	Het
Nuf2	T	C	1: 169,338,118 (GRCm39)		probably benign	Het
Or51k1	A	G	7: 103,661,523 (GRCm39)	Y129H	possibly damaging	Het
Orc1	T	A	4: 108,452,564 (GRCm39)	D146E	probably benign	Het
Pcdhb22	T	C	18: 37,651,627 (GRCm39)	F32L	probably benign	Het
Pde4d	G	T	13: 110,087,809 (GRCm39)	E562D	possibly damaging	Het
Pgk2	T	C	17: 40,518,691 (GRCm39)	K246E	probably damaging	Het
Plekhh2	A	T	17: 84,884,574 (GRCm39)		probably benign	Het
Pou3f2	A	T	4: 22,487,162 (GRCm39)	C324S	probably damaging	Het
Prkdc	C	T	16: 15,485,564 (GRCm39)	L464F	possibly damaging	Het
Prrc2a	T	C	17: 35,376,863 (GRCm39)	H749R	possibly damaging	Het
Rad18	T	C	6: 112,597,863 (GRCm39)	N218S	possibly damaging	Het
Rbm11	T	C	16: 75,393,531 (GRCm39)	Y76H	possibly damaging	Het
Rif1	T	G	2: 52,001,567 (GRCm39)	Y1674D	possibly damaging	Het
Rrp1b	A	G	17: 32,275,611 (GRCm39)	H386R	possibly damaging	Het
Sacs	T	C	14: 61,440,210 (GRCm39)	V752A	probably benign	Het
Sema3c	A	G	5: 17,883,334 (GRCm39)	D314G	possibly damaging	Het
Spata2l	G	A	8: 123,960,072 (GRCm39)	R406C	probably damaging	Het
Tacc2	C	T	7: 130,264,733 (GRCm39)		probably benign	Het
Tent4b	C	A	8: 88,927,002 (GRCm39)	Y137*	probably null	Het
Trpc4	A	G	3: 54,102,423 (GRCm39)	E107G	probably damaging	Het
Vmn2r70	A	G	7: 85,214,262 (GRCm39)	S297P	probably damaging	Het
Xdh	A	G	17: 74,230,073 (GRCm39)	I286T	probably benign	Het
Zfp608	T	C	18: 55,031,463 (GRCm39)	T826A	probably benign	Het
Zfp646	T	A	7: 127,482,683 (GRCm39)	V1620E	probably benign	Het
Zfyve28	T	G	5: 34,389,549 (GRCm39)	D217A	probably damaging	Het
Zmym6	G	A	4: 127,016,798 (GRCm39)	G768R	probably benign	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
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	130,742,334 (GRCm39)	missense	probably benign
R1783:Fcamr	UTSW	1	130,740,553 (GRCm39)	missense	probably benign	0.41
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
R4529:Fcamr	UTSW	1	130,732,313 (GRCm39)	missense	probably damaging	0.99
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'- CTCAGGCTCAGAATGGGACAGAAC -3'
(R):5'- TGGTGATAACTCCTCCAGGGAGTG -3'

Sequencing Primer
(F):5'- AGCCAGGACAATGGTTCC -3'
(R):5'- GCAGCATTTGTTGCTTAGACAC -3'

Posted On

2014-02-11