Mutagenetix > Incidental Mutation

Incidental Mutation 'R6737:Mrc1'

530215

Institutional Source

Beutler Lab

Gene Symbol

Mrc1

Ensembl Gene

ENSMUSG00000026712

Gene Name

mannose receptor, C type 1

Synonyms

CD206, MR

MMRRC Submission

044855-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R6737 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

14234225-14336834 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 14276088 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 474 (A474V)

Ref Sequence

ENSEMBL: ENSMUSP00000028045 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028045]

AlphaFold

Q61830

PDB Structure

CRYSTAL STRUCTURE OF THE CYSTEINE RICH DOMAIN OF MANNOSE RECEPTOR [X-RAY DIFFRACTION]
Crystal structure of the cysteine rich domain of mannose receptor complexed with Acetylgalactosamine-4-sulfate [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE CYSTEINE-RICH DOMAIN OF MANNOSE RECEPTOR COMPLEXED WITH 3-SO4-LEWIS(X) [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE CYSTEINE-RICH DOMAIN OF MANNOSE RECEPTOR COMPLEXED WITH 3-SO4-LEWIS(A) [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028045
AA Change: A474V

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000028045
Gene: ENSMUSG00000026712
AA Change: A474V

Domain	Start	End	E-Value	Type
RICIN	22	142	8.09e-18	SMART
FN2	161	209	1.83e-27	SMART
CLECT	216	341	8.87e-26	SMART
CLECT	362	487	3.51e-38	SMART
CLECT	504	626	8.2e-30	SMART
CLECT	646	778	2.34e-34	SMART
CLECT	800	923	2.17e-29	SMART
low complexity region	935	941	N/A	INTRINSIC
CLECT	944	1079	3.35e-35	SMART
CLECT	1094	1212	4.11e-21	SMART
CLECT	1229	1355	3.63e-31	SMART
transmembrane domain	1388	1410	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The recognition of complex carbohydrate structures on glycoproteins is an important part of several biological processes, including cell-cell recognition, serum glycoprotein turnover, and neutralization of pathogens. The protein encoded by this gene is a type I membrane receptor that mediates the endocytosis of glycoproteins by macrophages. The protein has been shown to bind high-mannose structures on the surface of potentially pathogenic viruses, bacteria, and fungi so that they can be neutralized by phagocytic engulfment.[provided by RefSeq, Sep 2015]
PHENOTYPE: Male homozygotes for one targeted null mutation die in utero. Heterozygous females clear lutropin from the circulation more slowly and have smaller litters due to reduced implantation. Another targeted knockout is viable and homozygotes are less susceptible to parasitic infection. [provided by MGI curators]

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061N02Rik	T	C	16: 88,504,456 (GRCm39)	R114G	probably damaging	Het
Atm	A	T	9: 53,397,351 (GRCm39)	S1661T	probably benign	Het
Castor1	A	G	11: 4,171,685 (GRCm39)	D303G	probably damaging	Het
Cd69	C	T	6: 129,245,262 (GRCm39)	A188T	probably benign	Het
Cecr2	G	T	6: 120,714,084 (GRCm39)	L225F	possibly damaging	Het
Cep295	A	G	9: 15,243,647 (GRCm39)	V1603A	possibly damaging	Het
Clec4g	T	C	8: 3,757,716 (GRCm39)		probably benign	Het
Clptm1	A	T	7: 19,371,001 (GRCm39)		probably null	Het
Crybg2	G	T	4: 133,800,001 (GRCm39)	G387V	probably damaging	Het
Ctcf	T	A	8: 106,391,140 (GRCm39)	M249K	probably benign	Het
Ctnnd2	C	A	15: 30,966,980 (GRCm39)	S952*	probably null	Het
Cxcr2	T	C	1: 74,197,790 (GRCm39)	F95L	probably benign	Het
Ddx55	C	A	5: 124,691,008 (GRCm39)	T5K	probably damaging	Het
Depp1	G	T	6: 116,629,058 (GRCm39)	V134L	possibly damaging	Het
Eif2ak2	T	C	17: 79,171,377 (GRCm39)	N342S	probably benign	Het
Eif2ak4	TGG	TG	2: 118,292,749 (GRCm39)		probably null	Het
Epb41l2	C	G	10: 25,364,916 (GRCm39)		probably null	Het
Fam234b	A	G	6: 135,205,513 (GRCm39)	K493E	probably damaging	Het
Fndc7	C	A	3: 108,779,594 (GRCm39)	V317L	probably damaging	Het
Fpr-rs6	T	C	17: 20,403,339 (GRCm39)	I7M	probably benign	Het
Gal3st1	T	A	11: 3,948,903 (GRCm39)	I370N	probably benign	Het
Glo1	C	T	17: 30,816,814 (GRCm39)	S114N	probably benign	Het
Grik1	T	C	16: 87,848,279 (GRCm39)	D163G	probably damaging	Het
Grxcr1	T	C	5: 68,267,835 (GRCm39)	C195R	probably damaging	Het
Hdac9	T	C	12: 34,265,451 (GRCm39)	N806S	probably damaging	Het
Igfn1	T	C	1: 135,897,605 (GRCm39)	N987S	probably benign	Het
Klhl29	G	T	12: 5,260,124 (GRCm39)	S31R	possibly damaging	Het
Lama4	C	T	10: 38,970,907 (GRCm39)	R1491C	probably damaging	Het
Lmtk3	T	C	7: 45,443,051 (GRCm39)	L578P	probably damaging	Het
Lrrk2	A	C	15: 91,607,421 (GRCm39)	M595L	possibly damaging	Het
Mmp27	A	T	9: 7,571,955 (GRCm39)	N52Y	possibly damaging	Het
Msl1	A	G	11: 98,694,908 (GRCm39)	H134R	probably damaging	Het
Muc5b	T	C	7: 141,411,236 (GRCm39)	M1394T	unknown	Het
Myof	G	A	19: 37,931,962 (GRCm39)	T968I	probably benign	Het
Nat8f2	A	T	6: 85,845,194 (GRCm39)	M56K	probably benign	Het
Ncoa5	C	T	2: 164,844,055 (GRCm39)	G116D	probably damaging	Het
Ndst2	A	G	14: 20,777,562 (GRCm39)	L494P	probably damaging	Het
Nfatc3	T	A	8: 106,810,601 (GRCm39)	V459E	probably damaging	Het
Nup133	A	T	8: 124,633,030 (GRCm39)	Y1034N	probably damaging	Het
Nup153	A	T	13: 46,842,682 (GRCm39)	S829T	probably benign	Het
Or3a1b	A	G	11: 74,012,732 (GRCm39)	S206G	probably benign	Het
Or4f47	T	C	2: 111,972,548 (GRCm39)	F86S	probably damaging	Het
Or52a24	C	T	7: 103,381,357 (GRCm39)	L75F	probably damaging	Het
Or5ac19	A	G	16: 59,089,175 (GRCm39)	L285P	possibly damaging	Het
Pcdh18	C	A	3: 49,710,344 (GRCm39)	V324F	probably damaging	Het
Pcdhb5	T	A	18: 37,455,723 (GRCm39)	L701H	probably damaging	Het
Plau	T	G	14: 20,887,884 (GRCm39)	Y43D	probably damaging	Het
Pld5	T	A	1: 175,917,588 (GRCm39)	N53I	probably damaging	Het
Pon2	T	A	6: 5,266,183 (GRCm39)	I279F	probably benign	Het
Prep	A	T	10: 44,973,591 (GRCm39)	K233I	possibly damaging	Het
Rap1b	T	C	10: 117,658,713 (GRCm39)	Y40C	probably damaging	Het
Ric8a	T	C	7: 140,438,789 (GRCm39)		probably null	Het
Rnf19b	T	C	4: 128,979,344 (GRCm39)		probably benign	Het
Rpl9-ps6	A	C	19: 32,443,727 (GRCm39)	S75R	probably damaging	Het
Sh3bp2	A	G	5: 34,719,818 (GRCm39)	Y609C	probably damaging	Het
Skint5	T	C	4: 113,392,936 (GRCm39)	N1232S	unknown	Het
Slc28a1	T	G	7: 80,818,996 (GRCm39)	V615G	probably benign	Het
Smc1b	C	T	15: 84,976,232 (GRCm39)	R825Q	probably benign	Het
Snx13	T	G	12: 35,190,185 (GRCm39)	N845K	probably damaging	Het
Srms	T	C	2: 180,851,253 (GRCm39)	Y171C	probably damaging	Het
Supt6	A	G	11: 78,122,644 (GRCm39)	L193P	probably damaging	Het
Syt7	G	A	19: 10,421,408 (GRCm39)	V531M	probably damaging	Het
Tmem255b	T	C	8: 13,507,096 (GRCm39)		probably null	Het
Tnik	A	T	3: 28,650,235 (GRCm39)	K449N	possibly damaging	Het
Trim29	A	T	9: 43,230,681 (GRCm39)	D288V	probably benign	Het
Ttc13	T	A	8: 125,408,900 (GRCm39)		probably null	Het
Uchl3	A	T	14: 101,928,033 (GRCm39)	D167V	probably damaging	Het
Ugt3a1	T	C	15: 9,311,895 (GRCm39)	V379A	probably benign	Het
Vps13b	A	G	15: 35,910,757 (GRCm39)	D3507G	probably damaging	Het
Wfdc2	A	T	2: 164,405,362 (GRCm39)	K88*	probably null	Het
Ylpm1	C	A	12: 85,077,620 (GRCm39)	H1448Q	probably damaging	Het
Zc3h14	A	G	12: 98,751,305 (GRCm39)	K667E	probably damaging	Het

Other mutations in Mrc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01013:Mrc1	APN	2	14,333,236 (GRCm39)	missense	probably damaging	1.00
IGL01326:Mrc1	APN	2	14,271,335 (GRCm39)	missense	probably damaging	1.00
IGL01340:Mrc1	APN	2	14,314,895 (GRCm39)	critical splice donor site	probably null
IGL01758:Mrc1	APN	2	14,243,059 (GRCm39)	missense	probably damaging	1.00
IGL01799:Mrc1	APN	2	14,243,187 (GRCm39)	missense	probably damaging	1.00
IGL02280:Mrc1	APN	2	14,249,024 (GRCm39)	missense	probably benign	0.19
IGL02435:Mrc1	APN	2	14,253,671 (GRCm39)	nonsense	probably null
IGL03073:Mrc1	APN	2	14,310,153 (GRCm39)	missense	probably damaging	1.00
IGL03110:Mrc1	APN	2	14,298,289 (GRCm39)	nonsense	probably null
IGL03155:Mrc1	APN	2	14,335,912 (GRCm39)	missense	probably benign	0.00
IGL03289:Mrc1	APN	2	14,313,634 (GRCm39)	critical splice donor site	probably null
amlodipine	UTSW	2	14,275,016 (GRCm39)	missense	probably damaging	1.00
losartan	UTSW	2	14,299,597 (GRCm39)	splice site	probably null
Shug	UTSW	2	14,275,017 (GRCm39)	missense	probably damaging	1.00
sussigkeit	UTSW	2	14,330,192 (GRCm39)	splice site	probably null
R0011:Mrc1	UTSW	2	14,266,148 (GRCm39)	critical splice donor site	probably null
R0011:Mrc1	UTSW	2	14,266,148 (GRCm39)	critical splice donor site	probably null
R0066:Mrc1	UTSW	2	14,266,011 (GRCm39)	missense	probably benign	0.42
R0066:Mrc1	UTSW	2	14,266,011 (GRCm39)	missense	probably benign	0.42
R0110:Mrc1	UTSW	2	14,243,353 (GRCm39)	splice site	probably benign
R0234:Mrc1	UTSW	2	14,284,705 (GRCm39)	missense	possibly damaging	0.65
R0234:Mrc1	UTSW	2	14,284,705 (GRCm39)	missense	possibly damaging	0.65
R0381:Mrc1	UTSW	2	14,312,720 (GRCm39)	missense	probably benign	0.05
R0505:Mrc1	UTSW	2	14,314,843 (GRCm39)	missense	probably damaging	1.00
R0539:Mrc1	UTSW	2	14,274,937 (GRCm39)	splice site	probably benign
R0613:Mrc1	UTSW	2	14,299,630 (GRCm39)	missense	probably damaging	0.96
R0626:Mrc1	UTSW	2	14,333,382 (GRCm39)	nonsense	probably null
R1122:Mrc1	UTSW	2	14,266,147 (GRCm39)	critical splice donor site	probably null
R1281:Mrc1	UTSW	2	14,298,321 (GRCm39)	missense	probably damaging	1.00
R1399:Mrc1	UTSW	2	14,284,736 (GRCm39)	missense	probably damaging	1.00
R1428:Mrc1	UTSW	2	14,320,074 (GRCm39)	missense	probably benign	0.11
R1571:Mrc1	UTSW	2	14,313,544 (GRCm39)	missense	probably damaging	0.97
R1596:Mrc1	UTSW	2	14,253,701 (GRCm39)	missense	possibly damaging	0.91
R1730:Mrc1	UTSW	2	14,332,655 (GRCm39)	missense	probably benign	0.01
R1733:Mrc1	UTSW	2	14,261,910 (GRCm39)	missense	probably damaging	1.00
R1783:Mrc1	UTSW	2	14,332,655 (GRCm39)	missense	probably benign	0.01
R1860:Mrc1	UTSW	2	14,333,390 (GRCm39)	missense	probably benign	0.30
R1872:Mrc1	UTSW	2	14,330,192 (GRCm39)	splice site	probably null
R1889:Mrc1	UTSW	2	14,313,488 (GRCm39)	critical splice acceptor site	probably null
R1938:Mrc1	UTSW	2	14,324,052 (GRCm39)	missense	possibly damaging	0.89
R1971:Mrc1	UTSW	2	14,249,103 (GRCm39)	critical splice donor site	probably null
R2031:Mrc1	UTSW	2	14,326,584 (GRCm39)	missense	probably damaging	1.00
R2136:Mrc1	UTSW	2	14,275,000 (GRCm39)	missense	probably damaging	1.00
R2152:Mrc1	UTSW	2	14,332,675 (GRCm39)	missense	probably damaging	1.00
R2168:Mrc1	UTSW	2	14,249,015 (GRCm39)	missense	possibly damaging	0.90
R2273:Mrc1	UTSW	2	14,330,183 (GRCm39)	missense	probably damaging	1.00
R2901:Mrc1	UTSW	2	14,333,354 (GRCm39)	missense	possibly damaging	0.94
R3767:Mrc1	UTSW	2	14,323,981 (GRCm39)	missense	probably damaging	1.00
R3795:Mrc1	UTSW	2	14,293,793 (GRCm39)	splice site	probably benign
R4028:Mrc1	UTSW	2	14,243,059 (GRCm39)	missense	probably damaging	1.00
R4668:Mrc1	UTSW	2	14,298,297 (GRCm39)	missense	probably damaging	1.00
R4828:Mrc1	UTSW	2	14,275,017 (GRCm39)	missense	probably damaging	1.00
R4897:Mrc1	UTSW	2	14,323,952 (GRCm39)	missense	probably benign	0.01
R4950:Mrc1	UTSW	2	14,276,091 (GRCm39)	missense	probably damaging	1.00
R5000:Mrc1	UTSW	2	14,249,000 (GRCm39)	missense	probably damaging	1.00
R5068:Mrc1	UTSW	2	14,311,327 (GRCm39)	missense	probably benign	0.00
R5279:Mrc1	UTSW	2	14,314,869 (GRCm39)	missense	probably damaging	0.99
R5366:Mrc1	UTSW	2	14,326,725 (GRCm39)	missense	probably benign	0.03
R5436:Mrc1	UTSW	2	14,271,326 (GRCm39)	missense	probably damaging	1.00
R5552:Mrc1	UTSW	2	14,284,768 (GRCm39)	missense	probably benign	0.05
R5631:Mrc1	UTSW	2	14,333,383 (GRCm39)	nonsense	probably null
R5831:Mrc1	UTSW	2	14,313,523 (GRCm39)	missense	probably damaging	0.99
R5978:Mrc1	UTSW	2	14,320,204 (GRCm39)	missense	probably damaging	0.97
R5993:Mrc1	UTSW	2	14,310,138 (GRCm39)	missense	probably damaging	1.00
R6030:Mrc1	UTSW	2	14,321,712 (GRCm39)	missense	probably benign	0.04
R6030:Mrc1	UTSW	2	14,321,712 (GRCm39)	missense	probably benign	0.04
R6038:Mrc1	UTSW	2	14,261,882 (GRCm39)	missense	probably damaging	1.00
R6038:Mrc1	UTSW	2	14,261,882 (GRCm39)	missense	probably damaging	1.00
R6228:Mrc1	UTSW	2	14,276,115 (GRCm39)	missense	probably benign	0.08
R6344:Mrc1	UTSW	2	14,248,985 (GRCm39)	missense	probably damaging	1.00
R6457:Mrc1	UTSW	2	14,275,016 (GRCm39)	missense	probably damaging	1.00
R6520:Mrc1	UTSW	2	14,312,760 (GRCm39)	missense	probably damaging	1.00
R6619:Mrc1	UTSW	2	14,299,597 (GRCm39)	splice site	probably null
R6631:Mrc1	UTSW	2	14,243,296 (GRCm39)	missense	probably benign
R6782:Mrc1	UTSW	2	14,266,148 (GRCm39)	critical splice donor site	probably null
R6887:Mrc1	UTSW	2	14,330,048 (GRCm39)	missense	possibly damaging	0.94
R7108:Mrc1	UTSW	2	14,308,957 (GRCm39)	nonsense	probably null
R7120:Mrc1	UTSW	2	14,313,508 (GRCm39)	missense	probably damaging	0.97
R7460:Mrc1	UTSW	2	14,253,680 (GRCm39)	missense	probably damaging	1.00
R7567:Mrc1	UTSW	2	14,330,104 (GRCm39)	missense	probably damaging	1.00
R7606:Mrc1	UTSW	2	14,242,955 (GRCm39)	missense	probably damaging	1.00
R7725:Mrc1	UTSW	2	14,284,788 (GRCm39)	missense	probably benign	0.03
R7826:Mrc1	UTSW	2	14,299,668 (GRCm39)	missense	probably damaging	1.00
R8082:Mrc1	UTSW	2	14,253,771 (GRCm39)	missense	probably benign
R8279:Mrc1	UTSW	2	14,271,168 (GRCm39)	missense	possibly damaging	0.89
R8888:Mrc1	UTSW	2	14,312,760 (GRCm39)	missense	probably damaging	1.00
R8895:Mrc1	UTSW	2	14,312,760 (GRCm39)	missense	probably damaging	1.00
R8952:Mrc1	UTSW	2	14,253,735 (GRCm39)	missense	probably damaging	0.98
R9315:Mrc1	UTSW	2	14,248,969 (GRCm39)	nonsense	probably null
R9366:Mrc1	UTSW	2	14,321,709 (GRCm39)	missense	probably damaging	0.99
R9373:Mrc1	UTSW	2	14,274,999 (GRCm39)	missense	probably damaging	0.99
R9418:Mrc1	UTSW	2	14,234,358 (GRCm39)	missense	probably benign	0.12
R9420:Mrc1	UTSW	2	14,312,790 (GRCm39)	missense	possibly damaging	0.53
R9489:Mrc1	UTSW	2	14,324,110 (GRCm39)	missense	probably benign	0.06
R9564:Mrc1	UTSW	2	14,266,117 (GRCm39)	missense	probably benign	0.00
R9572:Mrc1	UTSW	2	14,234,334 (GRCm39)	missense	probably benign
R9605:Mrc1	UTSW	2	14,324,110 (GRCm39)	missense	probably benign	0.06
R9606:Mrc1	UTSW	2	14,313,517 (GRCm39)	missense	probably benign	0.01
R9781:Mrc1	UTSW	2	14,310,175 (GRCm39)	missense	possibly damaging	0.90
R9781:Mrc1	UTSW	2	14,249,100 (GRCm39)	missense	probably benign
Z1177:Mrc1	UTSW	2	14,293,927 (GRCm39)	missense	probably damaging	1.00
Z1177:Mrc1	UTSW	2	14,248,949 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTCTTTACACATGAACAGTTAGAGCC -3'
(R):5'- CACTTGAAACACTGTCCTTTGG -3'

Sequencing Primer
(F):5'- GAACAGTTAGAGCCAAATATACTGC -3'
(R):5'- CTGTCCTTTGGTAATAATGAAGTGC -3'

Posted On

2018-08-01