Mutagenetix > Incidental Mutation

Incidental Mutation 'R5775:Mrc2'

448741

Institutional Source

Beutler Lab

Gene Symbol

Mrc2

Ensembl Gene

ENSMUSG00000020695

Gene Name

mannose receptor, C type 2

Synonyms

Endo180, uPARAP, novel lectin

MMRRC Submission

043374-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5775 (G1)

Quality Score

191

Status

Validated

Chromosome

Chromosomal Location

105183469-105241965 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 105228639 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 673 (V673I)

Ref Sequence

ENSEMBL: ENSMUSP00000097909 (fasta)

Gene Model

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

AlphaFold

Q64449

Predicted Effect

probably benign
Transcript: ENSMUST00000021038
AA Change: V673I

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

SMART Domains

Protein: ENSMUSP00000021038
Gene: ENSMUSG00000020695
AA Change: V673I

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 benign
Transcript: ENSMUST00000100335
AA Change: V673I

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

SMART Domains

Protein: ENSMUSP00000097909
Gene: ENSMUSG00000020695
AA Change: V673I

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

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

97% (59/61)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6a	A	G	12: 113,509,886 (GRCm39)	D753G	possibly damaging	Het
Arpc2	T	A	1: 74,295,108 (GRCm39)		probably null	Het
Atxn2	C	T	5: 121,951,512 (GRCm39)	T619M	probably damaging	Het
Cacna1s	T	C	1: 136,035,860 (GRCm39)	Y1120H	probably damaging	Het
Calm5	T	C	13: 3,904,435 (GRCm39)	L20S	probably damaging	Het
Carmil1	T	C	13: 24,460,520 (GRCm39)	I20V	probably benign	Het
Cd177	T	C	7: 24,451,693 (GRCm39)	E441G	probably damaging	Het
Cd63	T	A	10: 128,746,299 (GRCm39)	C9S	probably damaging	Het
Cep250	A	C	2: 155,811,294 (GRCm39)	D380A	possibly damaging	Het
Col5a3	G	T	9: 20,712,368 (GRCm39)	P509Q	unknown	Het
Cyp11b2	A	G	15: 74,725,327 (GRCm39)	V264A	probably benign	Het
Dennd6a	T	A	14: 26,340,528 (GRCm39)	L214*	probably null	Het
Dna2	A	G	10: 62,785,021 (GRCm39)	N46S	possibly damaging	Het
Elovl1	G	A	4: 118,288,094 (GRCm39)	V77I	probably benign	Het
Eml1	A	T	12: 108,472,813 (GRCm39)	Y207F	probably damaging	Het
Epha6	C	T	16: 59,639,357 (GRCm39)	R839Q	possibly damaging	Het
Erlec1	A	T	11: 30,893,848 (GRCm39)	S105T	probably benign	Het
Esp3	T	A	17: 40,944,468 (GRCm39)	S37T	possibly damaging	Het
Foxh1	G	A	15: 76,554,049 (GRCm39)	A8V	probably benign	Het
Fut1	A	C	7: 45,268,886 (GRCm39)	D280A	probably damaging	Het
Gm13998	G	T	2: 119,708,892 (GRCm39)		noncoding transcript	Het
Gm7247	C	T	14: 51,601,805 (GRCm39)	S26F	probably benign	Het
H2az1	T	C	3: 137,571,380 (GRCm39)	Y61H	probably damaging	Het
Kcns1	T	C	2: 164,006,686 (GRCm39)	I426V	probably damaging	Het
Kdm4c	T	G	4: 74,277,668 (GRCm39)	V774G	probably damaging	Het
Mtnr1b	G	A	9: 15,774,168 (GRCm39)	A297V	possibly damaging	Het
Or5d43	A	T	2: 88,105,045 (GRCm39)	M116K	probably damaging	Het
Or8b40	A	T	9: 38,027,423 (GRCm39)	E110D	probably damaging	Het
Osbpl5	A	T	7: 143,258,266 (GRCm39)	V346D	probably benign	Het
Pdzrn4	A	T	15: 92,655,562 (GRCm39)	E485V	probably damaging	Het
Pgpep1	G	A	8: 71,105,101 (GRCm39)	T53M	probably damaging	Het
Pigo	T	C	4: 43,023,475 (GRCm39)	D233G	probably damaging	Het
Pmm1	A	T	15: 81,836,156 (GRCm39)	I152N	probably benign	Het
Pot1a	A	T	6: 25,757,297 (GRCm39)		probably null	Het
Ppp1r12b	G	T	1: 134,803,780 (GRCm39)	L460I	probably benign	Het
Prrc2a	T	C	17: 35,377,463 (GRCm39)	D565G	unknown	Het
Psd	C	A	19: 46,303,211 (GRCm39)	E724*	probably null	Het
Rasa2	C	T	9: 96,459,521 (GRCm39)		probably null	Het
Rsbn1	A	T	3: 103,869,888 (GRCm39)	Q783L	possibly damaging	Het
Ryr2	T	C	13: 11,784,848 (GRCm39)	Y1035C	probably damaging	Het
Sec24d	C	T	3: 123,084,109 (GRCm39)	A96V	probably benign	Het
Sec61a2	A	T	2: 5,887,585 (GRCm39)		probably null	Het
Sec62	A	G	3: 30,847,436 (GRCm39)		probably benign	Het
Tcstv2a	T	A	13: 120,725,475 (GRCm39)	C46*	probably null	Het
Tmem132b	T	A	5: 125,715,394 (GRCm39)		probably null	Het
Tnip3	A	G	6: 65,591,741 (GRCm39)	S247G	probably benign	Het
Traf3	A	G	12: 111,219,162 (GRCm39)	K263R	possibly damaging	Het
Tubgcp3	A	T	8: 12,675,056 (GRCm39)	I713N	probably damaging	Het
Unc5c	A	G	3: 141,534,281 (GRCm39)	E860G	probably damaging	Het
Usp44	A	G	10: 93,681,840 (GRCm39)	S97G	possibly damaging	Het
Vmn2r129	G	T	4: 156,686,692 (GRCm39)		noncoding transcript	Het
Vps37a	A	G	8: 40,982,160 (GRCm39)	H109R	probably damaging	Het
Wfikkn2	G	T	11: 94,129,114 (GRCm39)	D342E	probably benign	Het
Zfp354b	A	T	11: 50,813,647 (GRCm39)	F426Y	probably benign	Het
Zfp462	C	A	4: 55,010,590 (GRCm39)	T852N	probably damaging	Het
Zfp987	T	G	4: 146,061,505 (GRCm39)	S312R	probably benign	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
R1770:Mrc2	UTSW	11	105,229,619 (GRCm39)	missense	probably damaging	0.99
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
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'- GCTTGTCCCTGTAGAGACAAG -3'
(R):5'- CAGGCAAATTCTTCATCGGC -3'

Sequencing Primer
(F):5'- TCCTTCTCAGGGTACAGACGTG -3'
(R):5'- ATCGGCAATTACTCTGGTCTG -3'

Posted On

2016-12-15