Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03155:Mrc1'

411247

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mrc1

Ensembl Gene

ENSMUSG00000026712

Gene Name

mannose receptor, C type 1

Synonyms

CD206, MR

Accession Numbers

Ncbi RefSeq: NM_008625.2; MGI:97142

Is this an essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

IGL03155

Quality Score

Status

Chromosome

Chromosomal Location

14229392-14332057 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 14331101 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 1433 (N1433D)

Ref Sequence

ENSEMBL: ENSMUSP00000028045 (fasta)

Gene Model

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

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 benign
Transcript: ENSMUST00000028045
AA Change: N1433D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000028045
Gene: ENSMUSG00000026712
AA Change: N1433D

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146168

Coding Region Coverage

Validation Efficiency

MGI Phenotype

Strain: 2656742; 2448258
Lethality: E1-E7
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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1d	C	T	2: 131,546,081	R518H	probably benign	Het
Akr7a5	T	A	4: 139,314,526	C190*	probably null	Het
Cct2	A	T	10: 117,060,671	L209Q	probably damaging	Het
Chordc1	T	A	9: 18,304,320	S123T	possibly damaging	Het
Crtap	T	C	9: 114,380,049	D309G	possibly damaging	Het
Csf2	T	C	11: 54,247,671	T115A	possibly damaging	Het
Dgkb	T	A	12: 38,139,459	I287N	probably damaging	Het
Dyrk1b	G	A	7: 28,182,687	D98N	probably benign	Het
Eif4g1	T	C	16: 20,692,417	S1550P	probably damaging	Het
Fam83e	A	G	7: 45,727,075	E404G	possibly damaging	Het
Fryl	G	A	5: 73,076,695	P1496S	probably benign	Het
Fsip1	A	T	2: 118,251,739	N71K	probably benign	Het
Gm5092	A	T	17: 21,094,708		noncoding transcript	Het
Gnb1l	T	A	16: 18,540,532		probably null	Het
Got1l1	T	C	8: 27,199,332	Y233C	probably damaging	Het
Katnbl1	T	A	2: 112,409,232		probably null	Het
Kcnn2	A	G	18: 45,685,315	E493G	probably damaging	Het
Kif26b	C	T	1: 178,874,128	R691W	probably damaging	Het
Lrp2	A	T	2: 69,455,452		probably benign	Het
Mast3	A	G	8: 70,789,217	S107P	probably damaging	Het
Mycbp2	G	A	14: 103,155,453	S3114L	probably benign	Het
Naip6	T	A	13: 100,316,424	H43L	possibly damaging	Het
Nin	A	T	12: 70,031,770	C1681S	probably damaging	Het
Nnmt	C	T	9: 48,592,052	V225M	probably damaging	Het
Olfr1233	A	T	2: 89,339,966	M112K	probably damaging	Het
Olfr694	A	T	7: 106,689,239	M164K	probably damaging	Het
Phf21a	T	G	2: 92,320,266	V64G	probably damaging	Het
Ptprd	A	T	4: 76,066,219	S800R	possibly damaging	Het
Scarf2	C	T	16: 17,807,549	P823S	probably benign	Het
Scn5a	T	C	9: 119,512,182	T1212A	possibly damaging	Het
Slc38a10	C	T	11: 120,105,119	V1043I	probably damaging	Het
Stxbp5	A	T	10: 9,816,290	L370Q	probably null	Het
Tas1r2	T	C	4: 139,669,156	V602A	possibly damaging	Het
Tatdn1	T	C	15: 58,916,196		probably benign	Het
Tdrd6	A	T	17: 43,625,507	L1550Q	probably damaging	Het
Tet3	G	T	6: 83,368,383	R1556S	probably damaging	Het
Tnpo2	T	A	8: 85,045,080	I249N	probably benign	Het
Tnxb	G	T	17: 34,713,595	V2263F	probably damaging	Het
Trim75	C	T	8: 64,983,340	V153M	possibly damaging	Het
Ttc21a	T	A	9: 119,943,976		probably null	Het
Tuft1	T	A	3: 94,634,514	I61L	possibly damaging	Het
Usp43	T	C	11: 67,876,489	D680G	probably damaging	Het
Vac14	A	G	8: 110,636,343	I274V	possibly damaging	Het
Vmn1r222	T	A	13: 23,232,693	R117W	probably damaging	Het
Vmn1r83	T	C	7: 12,321,690	M147V	probably benign	Het
Vmn2r43	T	A	7: 8,255,069	I382L	possibly damaging	Het
Vmn2r63	C	T	7: 42,903,454	V793I	probably damaging	Het
Vopp1	A	G	6: 57,762,507	Y19H	possibly damaging	Het
Yeats2	T	C	16: 20,229,573		probably null	Het

Other mutations in Mrc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01013:Mrc1	APN	2	14328425	missense	probably damaging	1.00
IGL01326:Mrc1	APN	2	14266524	missense	probably damaging	1.00
IGL01340:Mrc1	APN	2	14310084	critical splice donor site	probably null
IGL01758:Mrc1	APN	2	14238248	missense	probably damaging	1.00
IGL01799:Mrc1	APN	2	14238376	missense	probably damaging	1.00
IGL02280:Mrc1	APN	2	14244213	missense	probably benign	0.19
IGL02435:Mrc1	APN	2	14248860	nonsense	probably null
IGL03073:Mrc1	APN	2	14305342	missense	probably damaging	1.00
IGL03110:Mrc1	APN	2	14293478	nonsense	probably null
IGL03289:Mrc1	APN	2	14308823	critical splice donor site	probably null
amlodipine	UTSW	2	14270205	missense	probably damaging	1.00
losartan	UTSW	2	14294786	splice site	probably null
Shug	UTSW	2	14270206	missense	probably damaging	1.00
sussigkeit	UTSW	2	14325381	splice site	probably null
R0011:Mrc1	UTSW	2	14261337	critical splice donor site	probably null
R0011:Mrc1	UTSW	2	14261337	critical splice donor site	probably null
R0066:Mrc1	UTSW	2	14261200	missense	probably benign	0.42
R0066:Mrc1	UTSW	2	14261200	missense	probably benign	0.42
R0110:Mrc1	UTSW	2	14238542	splice site	probably benign
R0234:Mrc1	UTSW	2	14279894	missense	possibly damaging	0.65
R0234:Mrc1	UTSW	2	14279894	missense	possibly damaging	0.65
R0381:Mrc1	UTSW	2	14307909	missense	probably benign	0.05
R0505:Mrc1	UTSW	2	14310032	missense	probably damaging	1.00
R0539:Mrc1	UTSW	2	14270126	splice site	probably benign
R0613:Mrc1	UTSW	2	14294819	missense	probably damaging	0.96
R0626:Mrc1	UTSW	2	14328571	nonsense	probably null
R1122:Mrc1	UTSW	2	14261336	critical splice donor site	probably null
R1281:Mrc1	UTSW	2	14293510	missense	probably damaging	1.00
R1399:Mrc1	UTSW	2	14279925	missense	probably damaging	1.00
R1428:Mrc1	UTSW	2	14315263	missense	probably benign	0.11
R1571:Mrc1	UTSW	2	14308733	missense	probably damaging	0.97
R1596:Mrc1	UTSW	2	14248890	missense	possibly damaging	0.91
R1730:Mrc1	UTSW	2	14327844	missense	probably benign	0.01
R1733:Mrc1	UTSW	2	14257099	missense	probably damaging	1.00
R1783:Mrc1	UTSW	2	14327844	missense	probably benign	0.01
R1860:Mrc1	UTSW	2	14328579	missense	probably benign	0.30
R1872:Mrc1	UTSW	2	14325381	splice site	probably null
R1889:Mrc1	UTSW	2	14308677	critical splice acceptor site	probably null
R1938:Mrc1	UTSW	2	14319241	missense	possibly damaging	0.89
R1971:Mrc1	UTSW	2	14244292	critical splice donor site	probably null
R2031:Mrc1	UTSW	2	14321773	missense	probably damaging	1.00
R2136:Mrc1	UTSW	2	14270189	missense	probably damaging	1.00
R2152:Mrc1	UTSW	2	14327864	missense	probably damaging	1.00
R2168:Mrc1	UTSW	2	14244204	missense	possibly damaging	0.90
R2273:Mrc1	UTSW	2	14325372	missense	probably damaging	1.00
R2901:Mrc1	UTSW	2	14328543	missense	possibly damaging	0.94
R3767:Mrc1	UTSW	2	14319170	missense	probably damaging	1.00
R3795:Mrc1	UTSW	2	14288982	splice site	probably benign
R4028:Mrc1	UTSW	2	14238248	missense	probably damaging	1.00
R4668:Mrc1	UTSW	2	14293486	missense	probably damaging	1.00
R4828:Mrc1	UTSW	2	14270206	missense	probably damaging	1.00
R4897:Mrc1	UTSW	2	14319141	missense	probably benign	0.01
R4950:Mrc1	UTSW	2	14271280	missense	probably damaging	1.00
R5000:Mrc1	UTSW	2	14244189	missense	probably damaging	1.00
R5068:Mrc1	UTSW	2	14306516	missense	probably benign	0.00
R5279:Mrc1	UTSW	2	14310058	missense	probably damaging	0.99
R5366:Mrc1	UTSW	2	14321914	missense	probably benign	0.03
R5436:Mrc1	UTSW	2	14266515	missense	probably damaging	1.00
R5552:Mrc1	UTSW	2	14279957	missense	probably benign	0.05
R5631:Mrc1	UTSW	2	14328572	nonsense	probably null
R5831:Mrc1	UTSW	2	14308712	missense	probably damaging	0.99
R5978:Mrc1	UTSW	2	14315393	missense	probably damaging	0.97
R5993:Mrc1	UTSW	2	14305327	missense	probably damaging	1.00
R6030:Mrc1	UTSW	2	14316901	missense	probably benign	0.04
R6030:Mrc1	UTSW	2	14316901	missense	probably benign	0.04
R6038:Mrc1	UTSW	2	14257071	missense	probably damaging	1.00
R6038:Mrc1	UTSW	2	14257071	missense	probably damaging	1.00
R6228:Mrc1	UTSW	2	14271304	missense	probably benign	0.08
R6344:Mrc1	UTSW	2	14244174	missense	probably damaging	1.00
R6457:Mrc1	UTSW	2	14270205	missense	probably damaging	1.00
R6520:Mrc1	UTSW	2	14307949	missense	probably damaging	1.00
R6619:Mrc1	UTSW	2	14294786	splice site	probably null
R6631:Mrc1	UTSW	2	14238485	missense	probably benign
R6737:Mrc1	UTSW	2	14271277	missense	possibly damaging	0.95
R6782:Mrc1	UTSW	2	14261337	critical splice donor site	probably null
R6887:Mrc1	UTSW	2	14325237	missense	possibly damaging	0.94
R7108:Mrc1	UTSW	2	14304146	nonsense	probably null
R7120:Mrc1	UTSW	2	14308697	missense	probably damaging	0.97
R7460:Mrc1	UTSW	2	14248869	missense	probably damaging	1.00
R7567:Mrc1	UTSW	2	14325293	missense	probably damaging	1.00
R7606:Mrc1	UTSW	2	14238144	missense	probably damaging	1.00
R7725:Mrc1	UTSW	2	14279977	missense	probably benign	0.03
R7826:Mrc1	UTSW	2	14294857	missense	probably damaging	1.00
R8082:Mrc1	UTSW	2	14248960	missense	probably benign
R8279:Mrc1	UTSW	2	14266357	missense	possibly damaging	0.89
Z1177:Mrc1	UTSW	2	14244138	missense	probably damaging	1.00
Z1177:Mrc1	UTSW	2	14289116	missense	probably damaging	1.00

Posted On

2016-08-02