Mutagenetix > Incidental Mutation

Incidental Mutation 'R4794:Colec12'

368885

Institutional Source

Beutler Lab

Gene Symbol

Colec12

Ensembl Gene

ENSMUSG00000036103

Gene Name

collectin sub-family member 12

Synonyms

CL-P1, SRCL, Scara4

MMRRC Submission

042420-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.318) question?

Stock #

R4794 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

9707648-9877995 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 9848984 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 387 (N387K)

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

probably damaging
Transcript: ENSMUST00000040069
AA Change: N387K

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000043220
Gene: ENSMUSG00000036103
AA Change: N387K

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

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.5%

Validation Efficiency

97% (75/77)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	A	T	12: 81,421,424	I141K	probably damaging	Het
Adgrb1	A	G	15: 74,588,129	E537G	probably damaging	Het
Asic3	C	T	5: 24,415,897	A259V	probably damaging	Het
Bcar1	G	A	8: 111,720,920	Q142*	probably null	Het
Bcas3	T	C	11: 85,509,468	V200A	probably damaging	Het
Cd302	A	T	2: 60,272,149	I42N	probably benign	Het
Copa	T	A	1: 172,119,321	I1032N	probably damaging	Het
D630003M21Rik	G	C	2: 158,196,139	T1129S	probably benign	Het
D630045J12Rik	G	A	6: 38,194,485	T916I	possibly damaging	Het
Dnajb13	C	T	7: 100,503,992	A241T	probably damaging	Het
Dyrk4	G	T	6: 126,885,337	N397K	possibly damaging	Het
Eftud2	T	A	11: 102,870,177	Y114F	probably benign	Het
Epm2a	A	G	10: 11,390,853	D114G	probably benign	Het
Exoc5	T	C	14: 49,048,900		probably null	Het
Fam135a	G	A	1: 24,029,160	T706I	probably benign	Het
Fasn	A	G	11: 120,811,295	V1845A	probably benign	Het
Fscn3	A	G	6: 28,430,596	E255G	probably damaging	Het
Galnt7	A	T	8: 57,545,363	Y311N	probably damaging	Het
Gm13757	A	T	2: 88,446,347	M197K	probably benign	Het
Gm5724	A	G	6: 141,767,562	V31A	probably benign	Het
Gm8765	C	G	13: 50,703,239	P971R	probably benign	Het
Grid1	T	C	14: 34,822,622	L50P	probably damaging	Het
Hepacam2	A	G	6: 3,475,933	F331L	probably damaging	Het
Ikbkap	ACTTCTTCTTCTTCTTCTTCTTC	ACTTCTTCTTCTTCTTCTTC	4: 56,781,176		probably benign	Het
Kalrn	C	T	16: 33,989,810	D2525N	possibly damaging	Het
Kif1a	T	C	1: 93,025,727	Y1245C	probably damaging	Het
Ltbp3	T	C	19: 5,756,679	F1022L	probably damaging	Het
Med16	G	T	10: 79,900,117	T399N	probably damaging	Het
Mfsd14a	A	T	3: 116,645,506		probably benign	Het
Myh7b	G	A	2: 155,623,266	V681I	probably benign	Het
Ndc1	A	G	4: 107,390,222	E409G	probably benign	Het
Necap2	A	G	4: 141,071,601		probably benign	Het
Olfr47	T	A	6: 43,235,695	L29H	probably damaging	Het
Olfr847	C	T	9: 19,375,545	S112N	probably benign	Het
Parp12	G	A	6: 39,117,810	T117I	probably benign	Het
Pars2	C	A	4: 106,654,210	C396*	probably null	Het
Prg4	A	T	1: 150,454,546		probably benign	Het
Prkg2	G	A	5: 98,966,633	T523I	probably damaging	Het
Prph	T	A	15: 99,057,427	L425Q	probably damaging	Het
Ranbp9	A	G	13: 43,414,076	Y549H	probably damaging	Het
Rbm12	A	T	2: 156,095,569		probably benign	Het
Reln	T	C	5: 22,344,185	Y75C	probably damaging	Het
Rock2	G	A	12: 16,940,407	R110H	probably damaging	Het
Samd1	G	A	8: 83,999,717	E468K	probably damaging	Het
Samd11	T	A	4: 156,249,465	Q173L	probably damaging	Het
Scgb2b20	C	A	7: 33,365,726	G37V	probably damaging	Het
Sf1	C	A	19: 6,375,664		probably benign	Het
Slc17a5	T	A	9: 78,574,715	H183L	probably damaging	Het
Smgc	T	A	15: 91,841,454	S13T	probably benign	Het
Snapin	A	G	3: 90,490,785		probably benign	Het
Ssc5d	C	T	7: 4,943,745	P1033S	probably benign	Het
Strn3	T	C	12: 51,650,171	E259G	probably benign	Het
Tbc1d32	A	G	10: 56,196,836	F238L	possibly damaging	Het
Tbck	G	A	3: 132,686,968	V57M	possibly damaging	Het
Tgm3	A	G	2: 130,041,955	D511G	probably benign	Het
Tlr5	T	C	1: 182,973,896	V241A	probably benign	Het
Tmem181c-ps	A	G	17: 6,620,355		noncoding transcript	Het
Tnfrsf1a	G	A	6: 125,358,084	C168Y	probably damaging	Het
Tph2	G	T	10: 115,182,770	L79I	possibly damaging	Het
Tsc1	G	A	2: 28,661,690		probably null	Het
Ttc14	A	T	3: 33,803,149	M215L	probably benign	Het
Ube3c	A	G	5: 29,597,085	N120S	probably benign	Het
Ubr2	A	T	17: 46,930,445	W1728R	probably damaging	Het
Vnn1	A	G	10: 23,900,704	T318A	probably benign	Het
Washc2	T	C	6: 116,258,649	V941A	probably benign	Het
Wdfy3	A	G	5: 101,943,943	V510A	probably damaging	Het
Wdsub1	A	T	2: 59,862,844	V272E	possibly damaging	Het
Xylt1	A	C	7: 117,637,635	D537A	probably benign	Het
Zfp57	A	G	17: 37,010,130	N292S	possibly damaging	Het

Other mutations in Colec12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01099:Colec12	APN	18	9848826	missense	probably damaging	1.00
IGL02477:Colec12	APN	18	9859858	missense	unknown
R0128:Colec12	UTSW	18	9858921	missense	unknown
R0130:Colec12	UTSW	18	9858921	missense	unknown
R0178:Colec12	UTSW	18	9858921	missense	unknown
R0179:Colec12	UTSW	18	9858921	missense	unknown
R0180:Colec12	UTSW	18	9848890	missense	probably damaging	0.99
R0180:Colec12	UTSW	18	9858921	missense	unknown
R0318:Colec12	UTSW	18	9848446	missense	possibly damaging	0.77
R0344:Colec12	UTSW	18	9858921	missense	unknown
R0573:Colec12	UTSW	18	9858650	missense	probably damaging	0.97
R1028:Colec12	UTSW	18	9866837	missense	unknown
R1693:Colec12	UTSW	18	9866765	missense	unknown
R1951:Colec12	UTSW	18	9859975	critical splice donor site	probably null
R2008:Colec12	UTSW	18	9874813	missense	probably benign	0.03
R2181:Colec12	UTSW	18	9846828	missense	probably damaging	0.99
R4258:Colec12	UTSW	18	9720950	missense	probably damaging	1.00
R5269:Colec12	UTSW	18	9846825	missense	possibly damaging	0.67
R5369:Colec12	UTSW	18	9866750	missense	unknown
R5421:Colec12	UTSW	18	9858580	missense	probably damaging	1.00
R5608:Colec12	UTSW	18	9848267	missense	possibly damaging	0.95
R5668:Colec12	UTSW	18	9848963	missense	probably damaging	1.00
R5684:Colec12	UTSW	18	9849009	missense	probably damaging	0.99
R6547:Colec12	UTSW	18	9840351	missense	probably damaging	1.00
R7194:Colec12	UTSW	18	9848248	missense	probably benign	0.08
R7253:Colec12	UTSW	18	9848922	missense	probably damaging	1.00
R8492:Colec12	UTSW	18	9876980	splice site	probably null
R9365:Colec12	UTSW	18	9848146	missense	probably damaging	1.00
R9649:Colec12	UTSW	18	9877000	missense	unknown
Z1088:Colec12	UTSW	18	9848727	missense	probably benign	0.31

Predicted Primers

PCR Primer
(F):5'- TGAAAGACCTTCAGGACTTACACAAG -3'
(R):5'- CACTTACCTTGTAGAATGGTAAAGTTC -3'

Sequencing Primer
(F):5'- TTCAGGACTTACACAAGGATACAG -3'
(R):5'- AAAGTTCTTGATGAGCTGACCG -3'

Posted On

2016-02-04