Mutagenetix > Incidental Mutation

Incidental Mutation 'R1770:Mrc2'

196505

Institutional Source

Beutler Lab

Gene Symbol

Mrc2

Ensembl Gene

ENSMUSG00000020695

Gene Name

mannose receptor, C type 2

Synonyms

Endo180, uPARAP, novel lectin

MMRRC Submission

039801-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1770 (G1)

Quality Score

119

Status

Validated

Chromosome

Chromosomal Location

105183469-105241965 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 105229619 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 684 (V684A)

Ref Sequence

ENSEMBL: ENSMUSP00000097909 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021038] [ENSMUST00000100335]

AlphaFold

Q64449

Predicted Effect

probably damaging
Transcript: ENSMUST00000021038
AA Change: V684A

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000021038
Gene: ENSMUSG00000020695
AA Change: V684A

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
RICIN	40	160	8.49e-12	SMART
FN2	179	227	4.83e-27	SMART
CLECT	234	359	1.15e-33	SMART
CLECT	381	504	1.47e-40	SMART
CLECT	520	644	6.82e-27	SMART
CLECT	668	808	2.71e-30	SMART
CLECT	824	950	6.77e-31	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000100335
AA Change: V684A

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000097909
Gene: ENSMUSG00000020695
AA Change: V684A

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
RICIN	40	160	8.49e-12	SMART
FN2	179	227	4.83e-27	SMART
CLECT	234	359	1.15e-33	SMART
CLECT	381	504	1.47e-40	SMART
CLECT	520	644	6.82e-27	SMART
CLECT	668	808	2.71e-30	SMART
CLECT	824	950	6.77e-31	SMART
CLECT	971	1107	3.91e-36	SMART
CLECT	1124	1243	1.04e-17	SMART
CLECT	1259	1392	9.08e-23	SMART
transmembrane domain	1412	1434	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151135

Meta Mutation Damage Score

0.2190

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.8%

Validation Efficiency

92% (69/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the mannose receptor family of proteins that contain a fibronectin type II domain and multiple C-type lectin-like domains. The encoded protein plays a role in extracellular matrix remodeling by mediating the internalization and lysosomal degradation of collagen ligands. Expression of this gene may play a role in the tumorigenesis and metastasis of several malignancies including breast cancer, gliomas and metastatic bone disease. [provided by RefSeq, Feb 2012]
PHENOTYPE: Homozygous mice are visibly normal, viable and have no reproductive defects. Mouse embryonic fibroblasts derived from null mice exhibit decreased migration while bone marrow-derived macrophages exhibit increased migration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd4	T	C	12: 84,661,874 (GRCm39)	T84A	probably benign	Het
Adgra1	T	A	7: 139,453,947 (GRCm39)	Y161*	probably null	Het
Aldoart1	G	T	4: 72,770,173 (GRCm39)	H212N	probably benign	Het
Aldob	A	G	4: 49,536,861 (GRCm39)	Y343H	probably damaging	Het
Ankrd17	A	T	5: 90,391,235 (GRCm39)	V2036E	possibly damaging	Het
Ass1	A	G	2: 31,376,528 (GRCm39)	T131A	probably benign	Het
Baz1a	C	T	12: 54,945,293 (GRCm39)	R1354H	probably damaging	Het
C2cd2l	A	G	9: 44,228,108 (GRCm39)	V71A	probably benign	Het
C4b	T	A	17: 34,955,901 (GRCm39)	N678I	possibly damaging	Het
Carmil1	A	G	13: 24,357,657 (GRCm39)	L64P	probably damaging	Het
Cdh18	T	C	15: 23,474,487 (GRCm39)	S786P	probably benign	Het
Cep135	A	G	5: 76,751,042 (GRCm39)	E296G	possibly damaging	Het
Chml	G	A	1: 175,515,444 (GRCm39)	T159I	probably benign	Het
Cntn3	C	T	6: 102,246,166 (GRCm39)	E328K	possibly damaging	Het
Cstf1	A	G	2: 172,214,983 (GRCm39)	I35V	possibly damaging	Het
Cyp2c65	A	G	19: 39,070,642 (GRCm39)	K275R	probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dbx2	T	C	15: 95,522,615 (GRCm39)	E364G	probably benign	Het
Dcaf13	A	T	15: 38,993,633 (GRCm39)	N242I	probably damaging	Het
Dcc	A	G	18: 71,579,470 (GRCm39)	V701A	probably benign	Het
Elapor2	A	T	5: 9,468,021 (GRCm39)	T230S	probably benign	Het
Fastkd5	A	T	2: 130,456,200 (GRCm39)	Y797N	probably damaging	Het
Fat4	T	A	3: 39,064,417 (GRCm39)	I4791K	probably damaging	Het
Gm3852	T	C	1: 46,051,048 (GRCm39)	I45V	possibly damaging	Het
Gng4	A	G	13: 13,999,851 (GRCm39)	D40G	probably damaging	Het
Gns	A	G	10: 121,213,952 (GRCm39)	D209G	probably benign	Het
Kif6	C	A	17: 50,210,677 (GRCm39)	Q791K	possibly damaging	Het
Klhl35	G	A	7: 99,123,082 (GRCm39)	V569M	possibly damaging	Het
Krt1c	A	G	15: 101,719,589 (GRCm39)	S694P	unknown	Het
Lrrc8c	A	G	5: 105,754,603 (GRCm39)	Y126C	probably damaging	Het
Mad2l1bp	A	G	17: 46,463,838 (GRCm39)	V62A	probably benign	Het
Map1b	T	C	13: 99,567,001 (GRCm39)	R1907G	unknown	Het
Mertk	A	G	2: 128,592,094 (GRCm39)	I273V	probably benign	Het
Mfsd4b1	A	G	10: 39,879,223 (GRCm39)	Y225H	probably damaging	Het
Msh6	G	A	17: 88,287,651 (GRCm39)	W97*	probably null	Het
Mtmr10	A	G	7: 63,986,469 (GRCm39)	I516V	possibly damaging	Het
Myo7a	A	T	7: 97,761,813 (GRCm39)		probably benign	Het
Ndufs5	T	C	4: 123,606,661 (GRCm39)	Y92C	probably benign	Het
Nlrp1b	C	T	11: 71,050,979 (GRCm39)	V1035I	probably benign	Het
Ntrk2	A	G	13: 59,009,132 (GRCm39)	R308G	possibly damaging	Het
Or12e13	A	G	2: 87,663,643 (GRCm39)	I87V	probably benign	Het
Pcdhb16	G	T	18: 37,612,233 (GRCm39)	G398W	probably damaging	Het
Plpbp	T	A	8: 27,543,326 (GRCm39)	S237T	probably damaging	Het
Pnpla6	T	A	8: 3,584,634 (GRCm39)	F769I	possibly damaging	Het
Polk	A	G	13: 96,631,950 (GRCm39)	V261A	probably damaging	Het
Prss52	C	T	14: 64,351,082 (GRCm39)	A289V	probably damaging	Het
Puf60	T	C	15: 75,942,723 (GRCm39)	K407E	probably benign	Het
Pzp	T	C	6: 128,462,580 (GRCm39)	D1455G	probably damaging	Het
Ranbp17	T	C	11: 33,167,301 (GRCm39)	N1054S	probably benign	Het
Sdk2	A	G	11: 113,684,567 (GRCm39)	S1965P	probably benign	Het
Spryd7	T	C	14: 61,777,654 (GRCm39)	Y142C	probably damaging	Het
Srrt	A	T	5: 137,298,122 (GRCm39)		probably benign	Het
Stk10	A	G	11: 32,572,464 (GRCm39)	E935G	possibly damaging	Het
Tas2r115	G	A	6: 132,714,934 (GRCm39)	R6C	probably damaging	Het
Tdrd7	T	A	4: 45,987,681 (GRCm39)		probably benign	Het
Trim29	A	T	9: 43,243,673 (GRCm39)	Q564L	probably damaging	Het
Trim5	T	C	7: 103,925,868 (GRCm39)	D231G	probably damaging	Het
Trpv2	A	G	11: 62,487,787 (GRCm39)	K676E	probably benign	Het
Ttn	T	C	2: 76,583,859 (GRCm39)	R22383G	probably damaging	Het
Ugt1a2	A	G	1: 88,129,160 (GRCm39)	I268V	probably benign	Het
Ugt8a	T	C	3: 125,667,852 (GRCm39)	N330D	probably benign	Het
Utrn	G	A	10: 12,351,040 (GRCm39)	H2822Y	probably damaging	Het
Vmn1r176	G	A	7: 23,534,946 (GRCm39)	A69V	probably benign	Het
Vmn2r106	T	C	17: 20,488,560 (GRCm39)	Y613C	probably damaging	Het
Wdfy1	A	T	1: 79,686,857 (GRCm39)	W296R	probably damaging	Het
Zfp11	G	A	5: 129,734,822 (GRCm39)	T213I	possibly damaging	Het
Zfp142	A	T	1: 74,618,790 (GRCm39)	F193I	probably damaging	Het
Zfp764	G	A	7: 127,004,739 (GRCm39)	Q131*	probably null	Het

Other mutations in Mrc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01105:Mrc2	APN	11	105,219,567 (GRCm39)	missense	probably damaging	0.96
IGL01374:Mrc2	APN	11	105,238,469 (GRCm39)	nonsense	probably null
IGL01751:Mrc2	APN	11	105,216,560 (GRCm39)	missense	probably benign	0.00
IGL01780:Mrc2	APN	11	105,216,547 (GRCm39)	missense	probably damaging	1.00
IGL01835:Mrc2	APN	11	105,227,503 (GRCm39)	missense	probably damaging	1.00
IGL02350:Mrc2	APN	11	105,216,547 (GRCm39)	missense	probably damaging	1.00
IGL02357:Mrc2	APN	11	105,216,547 (GRCm39)	missense	probably damaging	1.00
IGL02829:Mrc2	APN	11	105,227,533 (GRCm39)	missense	possibly damaging	0.85
IGL02863:Mrc2	APN	11	105,224,446 (GRCm39)	splice site	probably benign
IGL02940:Mrc2	APN	11	105,231,997 (GRCm39)	missense	probably damaging	1.00
IGL02988:Mrc2	UTSW	11	105,216,397 (GRCm39)	missense	probably benign	0.04
R0254:Mrc2	UTSW	11	105,238,692 (GRCm39)	missense	probably benign	0.00
R0634:Mrc2	UTSW	11	105,238,518 (GRCm39)	missense	probably benign	0.01
R1102:Mrc2	UTSW	11	105,231,647 (GRCm39)	missense	probably benign
R1233:Mrc2	UTSW	11	105,239,241 (GRCm39)	missense	probably damaging	1.00
R1244:Mrc2	UTSW	11	105,239,257 (GRCm39)	splice site	probably null
R1458:Mrc2	UTSW	11	105,228,598 (GRCm39)	missense	probably benign	0.01
R1500:Mrc2	UTSW	11	105,238,551 (GRCm39)	missense	probably damaging	1.00
R1573:Mrc2	UTSW	11	105,227,482 (GRCm39)	missense	probably damaging	1.00
R1842:Mrc2	UTSW	11	105,228,546 (GRCm39)	missense	probably damaging	0.98
R2156:Mrc2	UTSW	11	105,238,682 (GRCm39)	splice site	probably null
R2165:Mrc2	UTSW	11	105,239,257 (GRCm39)	splice site	probably null
R2265:Mrc2	UTSW	11	105,239,257 (GRCm39)	splice site	probably null
R2266:Mrc2	UTSW	11	105,239,257 (GRCm39)	splice site	probably null
R2267:Mrc2	UTSW	11	105,239,257 (GRCm39)	splice site	probably null
R2268:Mrc2	UTSW	11	105,239,257 (GRCm39)	splice site	probably null
R2269:Mrc2	UTSW	11	105,239,257 (GRCm39)	splice site	probably null
R2270:Mrc2	UTSW	11	105,239,257 (GRCm39)	splice site	probably null
R2271:Mrc2	UTSW	11	105,239,257 (GRCm39)	splice site	probably null
R2272:Mrc2	UTSW	11	105,239,257 (GRCm39)	splice site	probably null
R2296:Mrc2	UTSW	11	105,239,257 (GRCm39)	splice site	probably null
R2298:Mrc2	UTSW	11	105,239,257 (GRCm39)	splice site	probably null
R2300:Mrc2	UTSW	11	105,239,257 (GRCm39)	splice site	probably null
R2326:Mrc2	UTSW	11	105,239,257 (GRCm39)	splice site	probably null
R2518:Mrc2	UTSW	11	105,239,257 (GRCm39)	splice site	probably null
R2519:Mrc2	UTSW	11	105,239,257 (GRCm39)	splice site	probably null
R2520:Mrc2	UTSW	11	105,239,257 (GRCm39)	splice site	probably null
R2895:Mrc2	UTSW	11	105,239,257 (GRCm39)	splice site	probably null
R3029:Mrc2	UTSW	11	105,239,257 (GRCm39)	splice site	probably null
R3030:Mrc2	UTSW	11	105,239,257 (GRCm39)	splice site	probably null
R3079:Mrc2	UTSW	11	105,227,539 (GRCm39)	missense	probably damaging	0.97
R3122:Mrc2	UTSW	11	105,239,257 (GRCm39)	splice site	probably null
R3149:Mrc2	UTSW	11	105,239,257 (GRCm39)	splice site	probably null
R3150:Mrc2	UTSW	11	105,239,257 (GRCm39)	splice site	probably null
R3420:Mrc2	UTSW	11	105,239,257 (GRCm39)	splice site	probably null
R3422:Mrc2	UTSW	11	105,239,257 (GRCm39)	splice site	probably null
R3441:Mrc2	UTSW	11	105,238,542 (GRCm39)	missense	possibly damaging	0.87
R3726:Mrc2	UTSW	11	105,239,257 (GRCm39)	splice site	probably null
R3731:Mrc2	UTSW	11	105,239,257 (GRCm39)	splice site	probably null
R3800:Mrc2	UTSW	11	105,239,257 (GRCm39)	splice site	probably null
R3820:Mrc2	UTSW	11	105,239,257 (GRCm39)	splice site	probably null
R3821:Mrc2	UTSW	11	105,239,257 (GRCm39)	splice site	probably null
R3837:Mrc2	UTSW	11	105,239,257 (GRCm39)	splice site	probably null
R3838:Mrc2	UTSW	11	105,239,257 (GRCm39)	splice site	probably null
R3849:Mrc2	UTSW	11	105,183,729 (GRCm39)	critical splice donor site	probably null
R3850:Mrc2	UTSW	11	105,183,729 (GRCm39)	critical splice donor site	probably null
R3914:Mrc2	UTSW	11	105,238,058 (GRCm39)	splice site	probably benign
R3932:Mrc2	UTSW	11	105,239,257 (GRCm39)	splice site	probably null
R3933:Mrc2	UTSW	11	105,239,257 (GRCm39)	splice site	probably null
R3971:Mrc2	UTSW	11	105,218,857 (GRCm39)	missense	possibly damaging	0.65
R4105:Mrc2	UTSW	11	105,239,257 (GRCm39)	splice site	probably null
R4107:Mrc2	UTSW	11	105,239,257 (GRCm39)	splice site	probably null
R4113:Mrc2	UTSW	11	105,239,257 (GRCm39)	splice site	probably null
R4274:Mrc2	UTSW	11	105,239,257 (GRCm39)	splice site	probably null
R4399:Mrc2	UTSW	11	105,227,484 (GRCm39)	nonsense	probably null
R4477:Mrc2	UTSW	11	105,239,257 (GRCm39)	splice site	probably null
R4478:Mrc2	UTSW	11	105,239,257 (GRCm39)	splice site	probably null
R4493:Mrc2	UTSW	11	105,239,257 (GRCm39)	splice site	probably null
R4494:Mrc2	UTSW	11	105,239,257 (GRCm39)	splice site	probably null
R4495:Mrc2	UTSW	11	105,239,257 (GRCm39)	splice site	probably null
R4547:Mrc2	UTSW	11	105,227,467 (GRCm39)	missense	probably benign	0.04
R4600:Mrc2	UTSW	11	105,239,257 (GRCm39)	splice site	probably null
R4601:Mrc2	UTSW	11	105,239,257 (GRCm39)	splice site	probably null
R4602:Mrc2	UTSW	11	105,239,257 (GRCm39)	splice site	probably null
R4603:Mrc2	UTSW	11	105,239,257 (GRCm39)	splice site	probably null
R4610:Mrc2	UTSW	11	105,239,257 (GRCm39)	splice site	probably null
R4611:Mrc2	UTSW	11	105,239,257 (GRCm39)	splice site	probably null
R4637:Mrc2	UTSW	11	105,239,257 (GRCm39)	splice site	probably null
R4672:Mrc2	UTSW	11	105,233,923 (GRCm39)	missense	probably benign	0.22
R4674:Mrc2	UTSW	11	105,239,257 (GRCm39)	splice site	probably null
R4675:Mrc2	UTSW	11	105,239,257 (GRCm39)	splice site	probably null
R4693:Mrc2	UTSW	11	105,234,528 (GRCm39)	missense	probably benign	0.00
R4706:Mrc2	UTSW	11	105,239,257 (GRCm39)	splice site	probably null
R4707:Mrc2	UTSW	11	105,239,257 (GRCm39)	splice site	probably null
R4791:Mrc2	UTSW	11	105,239,257 (GRCm39)	splice site	probably null
R4792:Mrc2	UTSW	11	105,239,257 (GRCm39)	splice site	probably null
R4888:Mrc2	UTSW	11	105,232,034 (GRCm39)	missense	probably damaging	0.99
R5523:Mrc2	UTSW	11	105,234,408 (GRCm39)	missense	probably benign
R5600:Mrc2	UTSW	11	105,224,492 (GRCm39)	missense	probably damaging	1.00
R5634:Mrc2	UTSW	11	105,227,040 (GRCm39)	nonsense	probably null
R5692:Mrc2	UTSW	11	105,227,468 (GRCm39)	missense	probably damaging	0.99
R5706:Mrc2	UTSW	11	105,223,169 (GRCm39)	missense	probably damaging	1.00
R5775:Mrc2	UTSW	11	105,228,639 (GRCm39)	missense	probably benign	0.00
R6140:Mrc2	UTSW	11	105,237,615 (GRCm39)	missense	probably benign
R6146:Mrc2	UTSW	11	105,216,470 (GRCm39)	missense	probably damaging	0.98
R6225:Mrc2	UTSW	11	105,237,646 (GRCm39)	missense	probably benign	0.01
R6437:Mrc2	UTSW	11	105,240,669 (GRCm39)	missense	probably damaging	1.00
R6618:Mrc2	UTSW	11	105,240,708 (GRCm39)	missense	probably damaging	1.00
R6675:Mrc2	UTSW	11	105,233,906 (GRCm39)	splice site	probably null
R6680:Mrc2	UTSW	11	105,216,579 (GRCm39)	missense	probably damaging	0.98
R6868:Mrc2	UTSW	11	105,219,244 (GRCm39)	missense	probably damaging	1.00
R6979:Mrc2	UTSW	11	105,239,461 (GRCm39)	missense	probably damaging	0.96
R7038:Mrc2	UTSW	11	105,223,062 (GRCm39)	missense	possibly damaging	0.46
R7303:Mrc2	UTSW	11	105,216,629 (GRCm39)	missense	probably damaging	1.00
R7320:Mrc2	UTSW	11	105,220,061 (GRCm39)	missense	possibly damaging	0.92
R7422:Mrc2	UTSW	11	105,183,609 (GRCm39)	start gained	probably benign
R7537:Mrc2	UTSW	11	105,183,623 (GRCm39)	missense	probably benign
R7640:Mrc2	UTSW	11	105,223,121 (GRCm39)	missense	possibly damaging	0.48
R7709:Mrc2	UTSW	11	105,237,285 (GRCm39)	missense	probably benign	0.10
R7885:Mrc2	UTSW	11	105,223,092 (GRCm39)	missense	probably damaging	0.98
R7976:Mrc2	UTSW	11	105,238,829 (GRCm39)	missense	possibly damaging	0.74
R8042:Mrc2	UTSW	11	105,239,181 (GRCm39)	missense	probably damaging	0.98
R8096:Mrc2	UTSW	11	105,234,333 (GRCm39)	missense	probably damaging	1.00
R8353:Mrc2	UTSW	11	105,223,137 (GRCm39)	missense	probably damaging	0.98
R8453:Mrc2	UTSW	11	105,223,137 (GRCm39)	missense	probably damaging	0.98
R8519:Mrc2	UTSW	11	105,238,132 (GRCm39)	missense	possibly damaging	0.62
R8771:Mrc2	UTSW	11	105,240,596 (GRCm39)	missense	probably benign
R8787:Mrc2	UTSW	11	105,238,465 (GRCm39)	missense	probably benign
R8925:Mrc2	UTSW	11	105,216,334 (GRCm39)	missense	probably benign	0.00
R8927:Mrc2	UTSW	11	105,216,334 (GRCm39)	missense	probably benign	0.00
R8991:Mrc2	UTSW	11	105,229,740 (GRCm39)	missense	probably benign
R9017:Mrc2	UTSW	11	105,216,711 (GRCm39)	missense	probably damaging	1.00
R9096:Mrc2	UTSW	11	105,231,398 (GRCm39)	missense	probably damaging	1.00
R9097:Mrc2	UTSW	11	105,231,398 (GRCm39)	missense	probably damaging	1.00
R9223:Mrc2	UTSW	11	105,220,093 (GRCm39)	missense	probably damaging	1.00
R9471:Mrc2	UTSW	11	105,234,559 (GRCm39)	missense	probably benign	0.03
R9531:Mrc2	UTSW	11	105,240,731 (GRCm39)	missense	possibly damaging	0.82
T0970:Mrc2	UTSW	11	105,238,453 (GRCm39)	missense	probably benign	0.41
X0004:Mrc2	UTSW	11	105,238,453 (GRCm39)	missense	probably benign	0.41
X0062:Mrc2	UTSW	11	105,238,301 (GRCm39)	critical splice donor site	probably null
Z1176:Mrc2	UTSW	11	105,238,186 (GRCm39)	nonsense	probably null
Z1176:Mrc2	UTSW	11	105,232,202 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- AAAAGTCCTGTCTTCAGTCAGTTGTGG -3'
(R):5'- TTCTGACCCCAAGCGTGACAGAAC -3'

Sequencing Primer
(F):5'- gttgtggctctgctggg -3'
(R):5'- AGAATCTGGCAGCCATGC -3'

Posted On

2014-05-23