Mutagenetix > Incidental Mutation

Incidental Mutation 'R6547:Clec9a'

521275

Institutional Source

Beutler Lab

Gene Symbol

Clec9a

Ensembl Gene

ENSMUSG00000046080

Gene Name

C-type lectin domain family 9, member a

Synonyms

DNGR-1, 9830005G06Rik

MMRRC Submission

044672-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6547 (G1)

Quality Score

210.009

Status

Validated

Chromosome

Chromosomal Location

129385825-129401726 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 129393339 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 94 (V94D)

Ref Sequence

ENSEMBL: ENSMUSP00000128622 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058352] [ENSMUST00000088075] [ENSMUST00000164513] [ENSMUST00000204860]

AlphaFold

Q8BRU4

Predicted Effect

probably benign
Transcript: ENSMUST00000058352
AA Change: V121D

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000056625
Gene: ENSMUSG00000046080
AA Change: V121D

Domain	Start	End	E-Value	Type
transmembrane domain	32	54	N/A	INTRINSIC
CLECT	137	256	8.6e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000088075

SMART Domains

Protein: ENSMUSP00000085394
Gene: ENSMUSG00000046080

Domain	Start	End	E-Value	Type
transmembrane domain	32	54	N/A	INTRINSIC
CLECT	111	230	8.6e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000164513
AA Change: V94D

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000128622
Gene: ENSMUSG00000046080
AA Change: V94D

Domain	Start	End	E-Value	Type
CLECT	110	229	8.6e-24	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203592

Predicted Effect

probably benign
Transcript: ENSMUST00000204860

SMART Domains

Protein: ENSMUSP00000144990
Gene: ENSMUSG00000046080

Domain	Start	End	E-Value	Type
transmembrane domain	32	54	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.4%

Validation Efficiency

98% (53/54)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CLEC9A is a group V C-type lectin-like receptor (CTLR) that functions as an activation receptor and is expressed on myeloid lineage cells (Huysamen et al., 2008 [PubMed 18408006]).[supplied by OMIM, Aug 2008]
PHENOTYPE: Homozygous null mice have CD8alpha⁺ dendritic cells that are defective in cross-presentation of dead-cell associated antigens. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	T	2: 68,490,251 (GRCm39)		probably benign	Het
Abca13	T	A	11: 9,224,757 (GRCm39)	V490E	probably benign	Het
Abca2	G	T	2: 25,323,350 (GRCm39)	G106V	possibly damaging	Het
Ablim3	T	C	18: 61,957,000 (GRCm39)	T276A	probably benign	Het
Anxa7	A	G	14: 20,519,461 (GRCm39)	V119A	probably benign	Het
Arl9	A	G	5: 77,158,257 (GRCm39)		probably null	Het
Atm	T	C	9: 53,351,457 (GRCm39)	Y2964C	probably damaging	Het
Bbs9	T	C	9: 22,425,365 (GRCm39)	Y140H	probably benign	Het
Calcr	A	T	6: 3,717,177 (GRCm39)	D94E	probably damaging	Het
Celsr3	T	A	9: 108,706,327 (GRCm39)	Y937N	probably damaging	Het
Cemip2	A	T	19: 21,822,195 (GRCm39)	T1197S	probably benign	Het
Clca3a1	C	T	3: 144,442,708 (GRCm39)	A779T	probably damaging	Het
Colec12	G	T	18: 9,840,351 (GRCm39)	L57F	probably damaging	Het
Fa2h	T	C	8: 112,074,652 (GRCm39)	Y317C	probably damaging	Het
Flnc	A	G	6: 29,448,607 (GRCm39)	T1282A	probably damaging	Het
Gm10801	AAGT	AAGTAGT	2: 98,494,148 (GRCm39)		probably null	Het
Hcn2	G	T	10: 79,552,986 (GRCm39)	V162L	probably benign	Het
Hycc1	T	C	5: 24,170,098 (GRCm39)	N417S	probably benign	Het
Kbtbd11	T	A	8: 15,077,641 (GRCm39)	V80E	possibly damaging	Het
Lama4	A	G	10: 38,949,652 (GRCm39)	D915G	probably damaging	Het
Limch1	A	T	5: 67,186,117 (GRCm39)	E806V	probably damaging	Het
Mppe1	T	C	18: 67,362,059 (GRCm39)	I169V	probably benign	Het
Msc	A	C	1: 14,825,969 (GRCm39)	S2A	possibly damaging	Het
Nploc4	A	G	11: 120,319,348 (GRCm39)		probably null	Het
Nr3c2	A	T	8: 77,635,438 (GRCm39)	I180F	possibly damaging	Het
Nrap	G	T	19: 56,339,998 (GRCm39)	H840N	probably benign	Het
Or8a1	T	A	9: 37,641,791 (GRCm39)	M163L	probably benign	Het
Pate13	T	A	9: 35,819,781 (GRCm39)	M15K	probably null	Het
Pdlim1	G	A	19: 40,211,564 (GRCm39)	T243I	probably damaging	Het
Pfkl	T	A	10: 77,831,188 (GRCm39)	M318L	probably benign	Het
Rap1gds1	C	A	3: 138,661,099 (GRCm39)	R426L	probably damaging	Het
Ric1	A	G	19: 29,572,226 (GRCm39)	N674D	probably damaging	Het
Rp1	G	A	1: 4,240,528 (GRCm39)	T875I	unknown	Het
Rtn1	G	T	12: 72,355,535 (GRCm39)	S137Y	possibly damaging	Het
Scn2a	A	G	2: 65,546,241 (GRCm39)	I935V	probably benign	Het
Serpina1a	C	T	12: 103,822,180 (GRCm39)	V251M	probably damaging	Het
Slc19a3	A	G	1: 83,000,621 (GRCm39)	V132A	probably damaging	Het
Slc26a6	T	A	9: 108,737,981 (GRCm39)		probably null	Het
Slc2a5	T	A	4: 150,220,076 (GRCm39)	V164D	possibly damaging	Het
Slc4a1	T	A	11: 102,247,561 (GRCm39)	T441S	probably damaging	Het
Stk33	T	C	7: 108,920,042 (GRCm39)	I366V	possibly damaging	Het
Syt14	G	T	1: 192,584,177 (GRCm39)	H696N	possibly damaging	Het
Tcaim	T	A	9: 122,643,531 (GRCm39)	V77D	probably benign	Het
Tefm	T	G	11: 80,031,210 (GRCm39)		probably null	Het
Tekt3	T	A	11: 62,961,304 (GRCm39)	S158T	possibly damaging	Het
Tspan11	T	A	6: 127,926,766 (GRCm39)	M238K	possibly damaging	Het
Unc5c	A	T	3: 141,495,780 (GRCm39)	T476S	probably benign	Het
Usp9y	A	T	Y: 1,444,612 (GRCm39)	L109Q	probably damaging	Homo
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vps13c	C	A	9: 67,880,647 (GRCm39)	Q3495K	probably damaging	Het
Zbtb10	G	A	3: 9,316,763 (GRCm39)	A192T	probably benign	Het
Zfp316	A	T	5: 143,239,952 (GRCm39)	V689D	probably damaging	Het
Zswim1	A	G	2: 164,666,716 (GRCm39)		probably benign	Het
Zswim5	T	C	4: 116,844,100 (GRCm39)	L1046P	probably damaging	Het

Other mutations in Clec9a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01676:Clec9a	APN	6	129,398,118 (GRCm39)	missense	probably benign	0.35
PIT4468001:Clec9a	UTSW	6	129,396,597 (GRCm39)	critical splice donor site	probably null
R0408:Clec9a	UTSW	6	129,396,532 (GRCm39)	missense	possibly damaging	0.87
R1131:Clec9a	UTSW	6	129,387,278 (GRCm39)	missense	probably damaging	1.00
R1888:Clec9a	UTSW	6	129,387,249 (GRCm39)	missense	probably benign
R1888:Clec9a	UTSW	6	129,387,249 (GRCm39)	missense	probably benign
R2085:Clec9a	UTSW	6	129,387,274 (GRCm39)	missense	probably benign	0.07
R2095:Clec9a	UTSW	6	129,393,321 (GRCm39)	missense	possibly damaging	0.84
R3418:Clec9a	UTSW	6	129,398,001 (GRCm39)	intron	probably benign
R4731:Clec9a	UTSW	6	129,393,299 (GRCm39)	missense	probably benign	0.13
R7728:Clec9a	UTSW	6	129,392,198 (GRCm39)	missense	possibly damaging	0.93
R8078:Clec9a	UTSW	6	129,385,996 (GRCm39)	missense	probably benign	0.44
R8349:Clec9a	UTSW	6	129,387,292 (GRCm39)	missense	probably damaging	0.96
R8449:Clec9a	UTSW	6	129,387,292 (GRCm39)	missense	probably damaging	0.96
R9050:Clec9a	UTSW	6	129,396,561 (GRCm39)	missense	possibly damaging	0.86
R9476:Clec9a	UTSW	6	129,398,023 (GRCm39)	missense	possibly damaging	0.92
R9510:Clec9a	UTSW	6	129,398,023 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- AAGTGACTTGTCTCTCAGGGC -3'
(R):5'- GGGCCTAGACGAAATGCTAAC -3'

Sequencing Primer
(F):5'- TCAGGGCCTCTCTTATTTATAGC -3'
(R):5'- GCCTAGACGAAATGCTAACATCCC -3'

Posted On

2018-06-06