Mutagenetix > Incidental Mutation

Incidental Mutation 'R4258:Colec12'

321926

Institutional Source

Beutler Lab

Gene Symbol

Colec12

Ensembl Gene

ENSMUSG00000036103

Gene Name

collectin sub-family member 12

Synonyms

CL-P1, Scara4, SRCL

MMRRC Submission

041071-MU

Accession Numbers

Essential gene?

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

Stock #

R4258 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

9707648-9877995 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 9720950 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 13 (S13P)

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: S13P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000043220
Gene: ENSMUSG00000036103
AA Change: S13P

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

0.0768

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

95% (60/63)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415M13Rik	T	A	17: 54,031,441 (GRCm39)		noncoding transcript	Het
Ank3	T	C	10: 69,840,592 (GRCm39)	I984T	probably benign	Het
Arnt2	T	C	7: 83,960,163 (GRCm39)	T204A	probably damaging	Het
Arsi	T	C	18: 61,050,388 (GRCm39)	W424R	probably damaging	Het
Aspg	A	T	12: 112,087,687 (GRCm39)	N346I	probably benign	Het
Brdt	A	G	5: 107,507,775 (GRCm39)	S668G	probably damaging	Het
Ccdc178	C	T	18: 22,150,392 (GRCm39)		probably null	Het
Cfap58	A	T	19: 47,937,923 (GRCm39)		probably null	Het
Chaf1a	C	A	17: 56,363,474 (GRCm39)	H319Q	unknown	Het
Cpne9	C	T	6: 113,259,984 (GRCm39)		probably benign	Het
Cyp2c65	A	C	19: 39,081,872 (GRCm39)	D466A	probably benign	Het
Cyp3a25	T	C	5: 145,928,248 (GRCm39)	K266E	probably damaging	Het
Dennd1b	G	T	1: 138,990,678 (GRCm39)	R214L	probably damaging	Het
Dock9	T	C	14: 121,818,854 (GRCm39)	I1533V	probably benign	Het
Dynlt1a	C	T	17: 6,361,184 (GRCm39)	M102I	probably benign	Het
Edil3	G	T	13: 89,325,272 (GRCm39)	L220F	probably damaging	Het
Eml5	A	G	12: 98,831,693 (GRCm39)	Y383H	probably benign	Het
Epc1	T	A	18: 6,450,130 (GRCm39)	T393S	probably benign	Het
Fbxo8	A	T	8: 57,041,076 (GRCm39)	D164V	probably benign	Het
Gbp4	T	A	5: 105,284,841 (GRCm39)	N16I	probably damaging	Het
Gdf6	G	A	4: 9,844,877 (GRCm39)	V134I	probably damaging	Het
Gm5475	A	G	15: 100,322,117 (GRCm39)		probably benign	Het
Gm6430	T	G	1: 96,952,561 (GRCm39)		noncoding transcript	Het
Ighv9-4	A	T	12: 114,263,765 (GRCm39)	V56E	probably damaging	Het
Il3ra	A	T	14: 14,347,961 (GRCm38)	N36Y	probably damaging	Het
Kif7	G	T	7: 79,360,261 (GRCm39)	C325*	probably null	Het
Lipo2	A	T	19: 33,708,328 (GRCm39)	F229I	possibly damaging	Het
Lrba	A	G	3: 86,352,656 (GRCm39)	K1935E	probably damaging	Het
Mki67	A	T	7: 135,297,017 (GRCm39)	D2672E	possibly damaging	Het
Mtf1	A	G	4: 124,732,576 (GRCm39)	T545A	probably benign	Het
Mup6	A	T	4: 60,004,812 (GRCm39)		probably null	Het
Myo9b	T	C	8: 71,808,409 (GRCm39)	V1672A	probably damaging	Het
Nudt16l2	T	C	9: 105,020,767 (GRCm39)	I165V	probably damaging	Het
Or10al6	C	A	17: 38,082,949 (GRCm39)	P135Q	probably damaging	Het
Or10j5	C	T	1: 172,785,205 (GRCm39)	T281I	possibly damaging	Het
Or4k36	A	T	2: 111,145,983 (GRCm39)	H53L	probably benign	Het
Or5d37	T	A	2: 87,923,362 (GRCm39)	N306I	probably damaging	Het
Pcdhgb2	A	T	18: 37,825,102 (GRCm39)	I698F	probably damaging	Het
Pkn3	C	T	2: 29,978,572 (GRCm39)	H665Y	probably damaging	Het
Ppil6	T	A	10: 41,383,531 (GRCm39)	L99*	probably null	Het
Psg22	T	A	7: 18,458,554 (GRCm39)	V376E	probably damaging	Het
Pum1	G	A	4: 130,457,591 (GRCm39)	R201H	probably damaging	Het
Rasa2	A	T	9: 96,439,433 (GRCm39)		probably benign	Het
Schip1	T	A	3: 68,525,963 (GRCm39)	M379K	possibly damaging	Het
Scn9a	A	T	2: 66,395,398 (GRCm39)		probably benign	Het
Sh3tc1	C	T	5: 35,864,322 (GRCm39)	A622T	probably benign	Het
Smarcd2	A	T	11: 106,156,076 (GRCm39)	I292N	probably damaging	Het
Ssxb17	C	T	X: 21,041,167 (GRCm39)	S45N	probably damaging	Het
Stab1	G	A	14: 30,876,629 (GRCm39)	R862C	possibly damaging	Het
Tdrd5	T	A	1: 156,087,312 (GRCm39)	H870L	probably benign	Het
Tnfaip8	A	G	18: 50,223,443 (GRCm39)	R60G	possibly damaging	Het
Traf3ip3	C	T	1: 192,880,254 (GRCm39)	R25Q	probably damaging	Het
Unc5b	T	C	10: 60,601,150 (GRCm39)	Y892C	probably damaging	Het
Vmn2r2	T	G	3: 64,042,118 (GRCm39)	D199A	probably damaging	Het
Washc2	C	A	6: 116,185,202 (GRCm39)	P12Q	probably damaging	Het
Zfp286	T	C	11: 62,671,896 (GRCm39)	I121V	probably benign	Het
Zfp606	T	A	7: 12,228,267 (GRCm39)		probably null	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
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'- CAGTGATCCTCCTCAGAAAGC -3'
(R):5'- GTTGTACAATCATCCACCTGTCAC -3'

Sequencing Primer
(F):5'- TCCTCAGAAAGCCCGGG -3'
(R):5'- CCTGTCACATTGAAGCTCAATTTGG -3'

Posted On

2015-06-20