Mutagenetix > Incidental Mutation

Incidental Mutation 'R5608:Colec12'

439414

Institutional Source

Beutler Lab

Gene Symbol

Colec12

Ensembl Gene

ENSMUSG00000036103

Gene Name

collectin sub-family member 12

Synonyms

CL-P1, Scara4, SRCL

MMRRC Submission

043272-MU

Accession Numbers

Essential gene?

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

Stock #

R5608 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

9707648-9877995 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 9848267 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 148 (D148E)

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

possibly damaging
Transcript: ENSMUST00000040069
AA Change: D148E

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000043220
Gene: ENSMUSG00000036103
AA Change: D148E

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

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

95% (54/57)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl5	T	C	10: 80,178,781 (GRCm39)	D199G	probably benign	Het
Adgrl1	G	T	8: 84,663,886 (GRCm39)	G1118W	probably damaging	Het
Adgrv1	T	C	13: 81,303,395 (GRCm39)	E117G	probably damaging	Het
Alkbh7	A	T	17: 57,305,446 (GRCm39)	I88F	probably damaging	Het
Ankrd26	C	A	6: 118,488,583 (GRCm39)	D1359Y	probably damaging	Het
Apoo-ps	T	C	13: 107,550,709 (GRCm39)		noncoding transcript	Het
Arfgap2	G	A	2: 91,100,547 (GRCm39)	R298H	probably damaging	Het
Birc6	G	A	17: 74,920,539 (GRCm39)	V2109I	probably damaging	Het
Blvrb	C	T	7: 27,158,894 (GRCm39)	P98L	probably benign	Het
Bmpr1b	C	A	3: 141,563,283 (GRCm39)	M220I	possibly damaging	Het
Bpifa1	T	C	2: 153,989,495 (GRCm39)		probably benign	Het
Capn7	A	G	14: 31,092,664 (GRCm39)	Y737C	probably damaging	Het
Cdh13	A	T	8: 119,484,213 (GRCm39)	D158V	probably benign	Het
Cenpe	C	A	3: 134,940,837 (GRCm39)	S662*	probably null	Het
Dennd5a	C	A	7: 109,518,630 (GRCm39)	E480*	probably null	Het
Dpysl4	T	C	7: 138,678,459 (GRCm39)	V473A	probably damaging	Het
Dyrk3	T	C	1: 131,056,452 (GRCm39)	S574G	probably benign	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
H2-Aa	T	C	17: 34,502,816 (GRCm39)	T117A	possibly damaging	Het
Helq	C	T	5: 100,938,085 (GRCm39)	G454S	probably damaging	Het
Incenp	CGCTGCTGCTGC	CGCTGCTGCTGCTGC	19: 9,871,232 (GRCm39)		probably benign	Het
Ktn1	TTGTTGTCTTTGTGTT	TTGTT	14: 47,971,554 (GRCm39)		probably benign	Het
Lig1	C	A	7: 13,039,933 (GRCm39)	T715N	probably damaging	Het
Lrrc31	C	A	3: 30,743,994 (GRCm39)		probably null	Het
Ltbp2	A	C	12: 84,834,238 (GRCm39)		probably null	Het
Marcks	A	T	10: 37,012,912 (GRCm39)	V41E	probably damaging	Het
Mex3c	T	A	18: 73,723,014 (GRCm39)	M369K	possibly damaging	Het
Msh6	A	G	17: 88,294,329 (GRCm39)	D1028G	probably damaging	Het
Nhlrc3	C	T	3: 53,369,732 (GRCm39)		probably null	Het
Or1n1b	A	G	2: 36,780,527 (GRCm39)	F111S	probably damaging	Het
Or52s1b	T	C	7: 102,822,056 (GRCm39)	T263A	probably damaging	Het
Or52z12	G	A	7: 103,233,506 (GRCm39)	W92*	probably null	Het
Or8b8	G	A	9: 37,809,078 (GRCm39)	C126Y	probably damaging	Het
Pcdhga6	A	G	18: 37,840,514 (GRCm39)	N78S	possibly damaging	Het
Plag1	T	A	4: 3,905,463 (GRCm39)	K76*	probably null	Het
Ptpn21	T	A	12: 98,655,036 (GRCm39)	T644S	probably benign	Het
Qrfpr	A	G	3: 36,235,114 (GRCm39)	V292A	possibly damaging	Het
Rbbp6	T	A	7: 122,596,309 (GRCm39)	V617E	probably damaging	Het
Rnf157	A	T	11: 116,287,146 (GRCm39)		probably null	Het
Serpina5	A	C	12: 104,070,003 (GRCm39)	Y300S	probably damaging	Het
Slc41a3	A	G	6: 90,617,889 (GRCm39)	K279R	probably benign	Het
Smndc1	A	G	19: 53,372,084 (GRCm39)	V110A	probably benign	Het
Spata31e2	T	C	1: 26,722,129 (GRCm39)	Q1017R	probably damaging	Het
Tubgcp6	A	G	15: 88,995,353 (GRCm39)	V419A	probably benign	Het
Uggt2	C	T	14: 119,326,611 (GRCm39)	G200D	possibly damaging	Het
Utrn	A	T	10: 12,547,581 (GRCm39)	S1620T	probably benign	Het
Xkr4	T	C	1: 3,741,603 (GRCm39)		probably benign	Het
Zscan22	G	A	7: 12,640,919 (GRCm39)	G388S	probably 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
R1693:Colec12	UTSW	18	9,866,765 (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
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'- TCTTCCAGGGGATCAAGCTG -3'
(R):5'- TGCTGCAGATTTGAGATAAGGTTC -3'

Sequencing Primer
(F):5'- CTGGGAAGAAAGCTCTAAGTACC -3'
(R):5'- GAGATAAGGTTCCTCTGCTGAAC -3'

Posted On

2016-10-26