Mutagenetix > Incidental Mutation

Incidental Mutation 'R1693:Colec12'

191972

Institutional Source

Beutler Lab

Gene Symbol

Colec12

Ensembl Gene

ENSMUSG00000036103

Gene Name

collectin sub-family member 12

Synonyms

CL-P1, Scara4, SRCL

MMRRC Submission

039726-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.300) question?

Stock #

R1693 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

9707648-9877995 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 9866765 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 659 (V659M)

Ref Sequence

ENSEMBL: ENSMUSP00000043220 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040069]

AlphaFold

Q8K4Q8

PDB Structure

Mouse Scavenger Receptor C-type Lectin carbohydrate-recognition domain. [X-RAY DIFFRACTION]

Predicted Effect

unknown
Transcript: ENSMUST00000040069
AA Change: V659M

SMART Domains

Protein: ENSMUSP00000043220
Gene: ENSMUSG00000036103
AA Change: V659M

Domain	Start	End	E-Value	Type
transmembrane domain	34	56	N/A	INTRINSIC
coiled coil region	112	157	N/A	INTRINSIC
low complexity region	205	211	N/A	INTRINSIC
coiled coil region	217	247	N/A	INTRINSIC
low complexity region	268	280	N/A	INTRINSIC
low complexity region	369	385	N/A	INTRINSIC
Pfam:Collagen	441	499	1.4e-10	PFAM
Pfam:Collagen	482	548	9.6e-10	PFAM
Pfam:Collagen	530	591	3.8e-11	PFAM
CLECT	607	731	4.19e-36	SMART

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.2%
20x: 92.2%

Validation Efficiency

96% (69/72)

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 C-lectin family, proteins that possess collagen-like sequences and carbohydrate recognition domains. This protein is a scavenger receptor, a cell surface glycoprotein that displays several functions associated with host defense. It can bind to carbohydrate antigens on microorganisms, facilitating their recognition and removal. It also mediates the recognition, internalization, and degradation of oxidatively modified low density lipoprotein by vascular endothelial cells. [provided by RefSeq, Oct 2011]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff4	A	G	11: 53,287,380 (GRCm39)	D378G	probably damaging	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Aox1	T	C	1: 58,124,701 (GRCm39)	Y981H	probably damaging	Het
Arfgap2	T	A	2: 91,100,420 (GRCm39)		probably null	Het
Ccnf	TGGGGG	TGGGGGGG	17: 24,445,514 (GRCm39)		probably null	Het
Cd53	T	C	3: 106,676,205 (GRCm39)	N54S	possibly damaging	Het
Cep152	C	A	2: 125,408,174 (GRCm39)	A1390S	probably benign	Het
Cfap91	A	G	16: 38,162,085 (GRCm39)	Y19H	probably benign	Het
Chd7	T	C	4: 8,864,307 (GRCm39)		probably null	Het
Chrm5	A	G	2: 112,309,625 (GRCm39)	L497P	probably damaging	Het
Creb3	C	A	4: 43,566,755 (GRCm39)	H390Q	probably damaging	Het
D1Pas1	T	C	1: 186,700,226 (GRCm39)	F52L	probably benign	Het
D5Ertd579e	A	G	5: 36,771,441 (GRCm39)	F985L	probably damaging	Het
Dock4	C	T	12: 40,884,721 (GRCm39)	P1742S	probably benign	Het
Ehmt2	G	T	17: 35,125,386 (GRCm39)	V534L	possibly damaging	Het
Epcam	A	G	17: 87,947,324 (GRCm39)	D26G	probably benign	Het
F2	C	T	2: 91,459,524 (GRCm39)	V420M	probably damaging	Het
Fbxw16	A	T	9: 109,265,327 (GRCm39)	D401E	possibly damaging	Het
Fiz1	T	C	7: 5,011,727 (GRCm39)	T264A	probably benign	Het
Fsbp	T	C	4: 11,583,745 (GRCm39)	V148A	probably benign	Het
Furin	A	G	7: 80,042,230 (GRCm39)	L455P	probably damaging	Het
Ggt7	G	A	2: 155,348,395 (GRCm39)	R10W	probably damaging	Het
Gucy2g	T	C	19: 55,211,358 (GRCm39)	E624G	probably damaging	Het
Igf2r	A	G	17: 12,923,203 (GRCm39)	F1202S	probably damaging	Het
Ikzf1	C	T	11: 11,657,838 (GRCm39)	P32S	probably damaging	Het
Itgal	G	A	7: 126,904,453 (GRCm39)	V309M	probably damaging	Het
Kcnk5	C	A	14: 20,191,964 (GRCm39)	R399L	probably damaging	Het
Kdm5b	C	T	1: 134,525,314 (GRCm39)		probably benign	Het
Lrp2	C	T	2: 69,340,762 (GRCm39)	V1038M	probably damaging	Het
Lrp4	T	C	2: 91,322,698 (GRCm39)	Y1096H	probably damaging	Het
Lrrc7	C	G	3: 157,790,170 (GRCm39)	S1465T	possibly damaging	Het
Map3k5	A	G	10: 19,979,988 (GRCm39)	N832S	probably damaging	Het
Mrtfb	C	A	16: 13,216,334 (GRCm39)	L349I	possibly damaging	Het
Mrtfb	T	A	16: 13,216,335 (GRCm39)	L349Q	probably damaging	Het
Myh13	A	C	11: 67,232,310 (GRCm39)	M495L	possibly damaging	Het
Myh9	A	C	15: 77,697,097 (GRCm39)	Y106D	probably damaging	Het
Naa16	A	T	14: 79,588,896 (GRCm39)	W452R	probably damaging	Het
Nsd1	T	C	13: 55,395,074 (GRCm39)	S892P	probably benign	Het
Nup205	A	G	6: 35,187,906 (GRCm39)	I939V	probably benign	Het
Oit3	A	G	10: 59,261,239 (GRCm39)	F476S	probably damaging	Het
Or7e174	T	C	9: 20,012,883 (GRCm39)	V276A	probably benign	Het
Panx3	A	T	9: 37,580,203 (GRCm39)	M50K	possibly damaging	Het
Panx3	A	C	9: 37,580,242 (GRCm39)	M37R	possibly damaging	Het
Pip4p2	T	A	4: 14,886,631 (GRCm39)	D68E	probably benign	Het
Ppp2r5e	C	G	12: 75,516,341 (GRCm39)	A239P	probably damaging	Het
Prkaca	T	A	8: 84,707,827 (GRCm39)	D37E	probably benign	Het
Prkcq	T	A	2: 11,259,010 (GRCm39)	I310N	probably damaging	Het
Prrc2c	A	G	1: 162,546,282 (GRCm39)	Y235H	probably damaging	Het
Ptprj	A	T	2: 90,280,141 (GRCm39)	C1052*	probably null	Het
Rad52	C	A	6: 119,892,996 (GRCm39)	P180Q	probably damaging	Het
Sdhaf3	T	A	6: 7,038,964 (GRCm39)	D95E	probably benign	Het
Slitrk6	A	G	14: 110,988,360 (GRCm39)	I449T	probably damaging	Het
Spata7	T	A	12: 98,630,516 (GRCm39)	M358K	possibly damaging	Het
Tada2a	C	T	11: 83,972,895 (GRCm39)	G178D	probably damaging	Het
Tap2	G	C	17: 34,428,186 (GRCm39)	V287L	probably benign	Het
Tmem200a	A	G	10: 25,869,877 (GRCm39)	F131L	possibly damaging	Het
Traip	A	T	9: 107,847,229 (GRCm39)	K356M	probably damaging	Het
Tspan8	T	A	10: 115,679,949 (GRCm39)		probably benign	Het
U2surp	A	T	9: 95,393,913 (GRCm39)	M1K	probably null	Het
Vars1	A	T	17: 35,217,172 (GRCm39)	D427E	probably benign	Het
Vmn1r113	G	A	7: 20,521,532 (GRCm39)	C108Y	probably damaging	Het
Vmn2r63	T	A	7: 42,577,743 (GRCm39)	Q265L	probably benign	Het
Vps33b	T	A	7: 79,937,641 (GRCm39)	V463E	probably damaging	Het
Vrtn	T	C	12: 84,695,429 (GRCm39)	S60P	probably benign	Het
Zfp53	T	A	17: 21,729,884 (GRCm39)	V639D	possibly damaging	Het
Zfp964	T	A	8: 70,116,800 (GRCm39)	S466T	possibly damaging	Het

Other mutations in Colec12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01099:Colec12	APN	18	9,848,826 (GRCm39)	missense	probably damaging	1.00
IGL02477:Colec12	APN	18	9,859,858 (GRCm39)	missense	unknown
R0128:Colec12	UTSW	18	9,858,921 (GRCm39)	missense	unknown
R0130:Colec12	UTSW	18	9,858,921 (GRCm39)	missense	unknown
R0178:Colec12	UTSW	18	9,858,921 (GRCm39)	missense	unknown
R0179:Colec12	UTSW	18	9,858,921 (GRCm39)	missense	unknown
R0180:Colec12	UTSW	18	9,858,921 (GRCm39)	missense	unknown
R0180:Colec12	UTSW	18	9,848,890 (GRCm39)	missense	probably damaging	0.99
R0318:Colec12	UTSW	18	9,848,446 (GRCm39)	missense	possibly damaging	0.77
R0344:Colec12	UTSW	18	9,858,921 (GRCm39)	missense	unknown
R0573:Colec12	UTSW	18	9,858,650 (GRCm39)	missense	probably damaging	0.97
R1028:Colec12	UTSW	18	9,866,837 (GRCm39)	missense	unknown
R1951:Colec12	UTSW	18	9,859,975 (GRCm39)	critical splice donor site	probably null
R2008:Colec12	UTSW	18	9,874,813 (GRCm39)	missense	probably benign	0.03
R2181:Colec12	UTSW	18	9,846,828 (GRCm39)	missense	probably damaging	0.99
R4258:Colec12	UTSW	18	9,720,950 (GRCm39)	missense	probably damaging	1.00
R4794:Colec12	UTSW	18	9,848,984 (GRCm39)	missense	probably damaging	0.99
R5269:Colec12	UTSW	18	9,846,825 (GRCm39)	missense	possibly damaging	0.67
R5369:Colec12	UTSW	18	9,866,750 (GRCm39)	missense	unknown
R5421:Colec12	UTSW	18	9,858,580 (GRCm39)	missense	probably damaging	1.00
R5608:Colec12	UTSW	18	9,848,267 (GRCm39)	missense	possibly damaging	0.95
R5668:Colec12	UTSW	18	9,848,963 (GRCm39)	missense	probably damaging	1.00
R5684:Colec12	UTSW	18	9,849,009 (GRCm39)	missense	probably damaging	0.99
R6547:Colec12	UTSW	18	9,840,351 (GRCm39)	missense	probably damaging	1.00
R7194:Colec12	UTSW	18	9,848,248 (GRCm39)	missense	probably benign	0.08
R7253:Colec12	UTSW	18	9,848,922 (GRCm39)	missense	probably damaging	1.00
R8492:Colec12	UTSW	18	9,876,980 (GRCm39)	splice site	probably null
R9365:Colec12	UTSW	18	9,848,146 (GRCm39)	missense	probably damaging	1.00
R9649:Colec12	UTSW	18	9,877,000 (GRCm39)	missense	unknown
Z1088:Colec12	UTSW	18	9,848,727 (GRCm39)	missense	probably benign	0.31

Predicted Primers

PCR Primer
(F):5'- TGAGCCCAAACATTTCTCATCAGCG -3'
(R):5'- GCTTCCCTACTGGGAATAGGCAAC -3'

Sequencing Primer
(F):5'- ATTTCTCATCAGCGTGGCAG -3'
(R):5'- CCCTCAAGAGGATGGTGTG -3'

Posted On

2014-05-14