Mutagenetix > Incidental Mutation

Incidental Mutation 'R5279:Mrc1'

404082

Institutional Source

Beutler Lab

Gene Symbol

Mrc1

Ensembl Gene

ENSMUSG00000026712

Gene Name

mannose receptor, C type 1

Synonyms

CD206, MR

MMRRC Submission

042839-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R5279 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

14234225-14336834 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 14314869 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 985 (S985P)

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

probably damaging
Transcript: ENSMUST00000028045
AA Change: S985P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000028045
Gene: ENSMUSG00000026712
AA Change: S985P

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

Meta Mutation Damage Score

0.4040

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

99% (73/74)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	C	A	17: 24,508,388 (GRCm39)	G1049V	probably damaging	Het
Afdn	G	A	17: 14,109,214 (GRCm39)	R1579H	probably damaging	Het
Ankrd28	T	A	14: 31,456,963 (GRCm39)	N386Y	probably damaging	Het
Atf7ip	T	A	6: 136,580,377 (GRCm39)	Y1100*	probably null	Het
Atp9b	T	A	18: 80,956,073 (GRCm39)	E3V	probably damaging	Het
AW554918	T	G	18: 25,308,488 (GRCm39)	D60E	possibly damaging	Het
Baz2b	G	T	2: 59,762,496 (GRCm39)	Q927K	probably damaging	Het
Birc6	A	G	17: 74,957,042 (GRCm39)	R3659G	probably damaging	Het
C8a	T	G	4: 104,703,185 (GRCm39)	N291H	probably damaging	Het
Calcoco1	G	A	15: 102,619,420 (GRCm39)	L390F	probably damaging	Het
Carmil3	A	G	14: 55,739,028 (GRCm39)	D894G	probably damaging	Het
Cdc20	A	G	4: 118,290,711 (GRCm39)	Y430H	probably damaging	Het
Cdc6	A	T	11: 98,803,088 (GRCm39)	I316F	probably damaging	Het
Ceacam23	T	A	7: 17,607,214 (GRCm39)		noncoding transcript	Het
Cenpu	T	A	8: 47,031,945 (GRCm39)		probably null	Het
Csmd2	T	A	4: 128,350,707 (GRCm39)	V1592D	probably benign	Het
Csmd3	G	T	15: 48,655,340 (GRCm39)		probably null	Het
Dnah7c	T	C	1: 46,558,429 (GRCm39)	F512L	probably benign	Het
Fam136a	T	A	6: 86,343,686 (GRCm39)	L61Q	probably damaging	Het
Fpgs	A	C	2: 32,582,779 (GRCm39)		probably benign	Het
Fzd4	G	A	7: 89,056,881 (GRCm39)	M309I	probably benign	Het
Gad2	A	G	2: 22,563,969 (GRCm39)	T391A	probably benign	Het
Gm11563	A	T	11: 99,549,539 (GRCm39)	S72T	unknown	Het
Gon4l	A	G	3: 88,794,944 (GRCm39)	I716V	probably benign	Het
Itga9	T	C	9: 118,457,273 (GRCm39)	V128A	probably damaging	Het
Kat6a	CGCAGCAGCAGCAGCAGCA	CGCAGCAGCAGCA	8: 23,429,664 (GRCm39)		probably benign	Het
Lrrc9	T	A	12: 72,542,368 (GRCm39)	D1063E	possibly damaging	Het
Lyst	T	A	13: 13,823,387 (GRCm39)	L1453*	probably null	Het
Mcm3ap	T	C	10: 76,343,373 (GRCm39)	V1755A	probably damaging	Het
Mst1	A	C	9: 107,959,414 (GRCm39)	K233N	probably damaging	Het
Nr2c2ap	G	A	8: 70,584,653 (GRCm39)	D42N	probably damaging	Het
Ntn1	A	G	11: 68,276,538 (GRCm39)	S137P	probably benign	Het
Pard3	T	C	8: 128,186,867 (GRCm39)		probably null	Het
Pcdh15	T	A	10: 74,430,015 (GRCm39)	D1210E	probably damaging	Het
Pcdhga5	T	C	18: 37,827,774 (GRCm39)	L74P	probably benign	Het
Pcsk5	T	C	19: 17,573,022 (GRCm39)		probably null	Het
Pdia3	T	C	2: 121,244,484 (GRCm39)		probably benign	Het
Pikfyve	A	T	1: 65,235,858 (GRCm39)	R177*	probably null	Het
Pklr	A	G	3: 89,050,566 (GRCm39)	E409G	probably damaging	Het
Plod2	T	C	9: 92,463,376 (GRCm39)	Y154H	probably damaging	Het
Psmc3	T	A	2: 90,884,667 (GRCm39)	D6E	probably benign	Het
Ptpru	T	A	4: 131,547,334 (GRCm39)	N205I	possibly damaging	Het
Rbm6	T	C	9: 107,655,213 (GRCm39)	E1006G	probably benign	Het
Rgl2	T	C	17: 34,154,922 (GRCm39)	V642A	probably benign	Het
Rnf8	T	A	17: 29,845,680 (GRCm39)	H104Q	possibly damaging	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Rpa1	T	C	11: 75,204,170 (GRCm39)	N269S	probably damaging	Het
Sdk2	A	G	11: 113,757,857 (GRCm39)	M519T	probably benign	Het
Snx30	A	G	4: 59,885,070 (GRCm39)	S237G	probably benign	Het
Spx	A	G	6: 142,359,766 (GRCm39)	N36S	probably damaging	Het
Stard7	T	C	2: 127,137,416 (GRCm39)	Y289H	probably damaging	Het
Sugp2	T	C	8: 70,709,757 (GRCm39)		probably benign	Het
Susd4	C	T	1: 182,715,043 (GRCm39)	T288I	probably damaging	Het
Tceanc2	T	A	4: 107,034,826 (GRCm39)		probably null	Het
Tm4sf4	T	G	3: 57,341,159 (GRCm39)	V97G	probably benign	Het
Tmtc1	C	T	6: 148,256,629 (GRCm39)		probably benign	Het
Trappc11	C	T	8: 47,958,339 (GRCm39)		probably benign	Het
Triobp	G	T	15: 78,878,591 (GRCm39)	V398F	possibly damaging	Het
Ttll9	T	A	2: 152,804,464 (GRCm39)	S2T	possibly damaging	Het
Ttn	T	C	2: 76,731,320 (GRCm39)		probably benign	Het
Tyw3	A	G	3: 154,300,108 (GRCm39)	C80R	probably damaging	Het
Usp24	T	C	4: 106,242,621 (GRCm39)	V1177A	possibly damaging	Het
Vmn1r65	A	G	7: 6,011,754 (GRCm39)	V160A	probably damaging	Het
Vmn2r104	T	A	17: 20,262,146 (GRCm39)	H328L	probably benign	Het
Vmn2r65	A	C	7: 84,589,849 (GRCm39)	I689S	probably damaging	Het
Wrn	A	G	8: 33,731,129 (GRCm39)	Y1068H	probably damaging	Het
Xpo4	C	A	14: 57,850,866 (GRCm39)	S346I	probably benign	Het
Zc3h3	T	A	15: 75,711,439 (GRCm39)	T341S	probably benign	Het
Zxdc	T	C	6: 90,347,419 (GRCm39)	M260T	possibly 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
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
R6737:Mrc1	UTSW	2	14,276,088 (GRCm39)	missense	possibly damaging	0.95
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'- TCAATTCTCCTTTAGGCCTGAG -3'
(R):5'- AAGTGTCATTTCTCTGTCCATATGC -3'

Sequencing Primer
(F):5'- AAAACCTCTGCTTTTGTCC -3'
(R):5'- CCCAGTATATCTAGCATCAATGGGAG -3'

Posted On

2016-07-22