Mutagenetix > Incidental Mutation

Incidental Mutation 'R1585:Card9'

177404

Institutional Source

Beutler Lab

Gene Symbol

Card9

Ensembl Gene

ENSMUSG00000026928

Gene Name

caspase recruitment domain family, member 9

Synonyms

LOC332579

MMRRC Submission

039622-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1585 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26242188-26250930 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26244398 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 444 (L444P)

Ref Sequence

ENSEMBL: ENSMUSP00000097876 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028294] [ENSMUST00000028295] [ENSMUST00000100303]

AlphaFold

A2AIV8

Predicted Effect

probably benign
Transcript: ENSMUST00000028294
AA Change: L444P

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000028294
Gene: ENSMUSG00000026928
AA Change: L444P

Domain	Start	End	E-Value	Type
Pfam:CARD	11	97	3.1e-21	PFAM
coiled coil region	145	272	N/A	INTRINSIC
coiled coil region	375	415	N/A	INTRINSIC
low complexity region	482	494	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000028295

SMART Domains

Protein: ENSMUSP00000028295
Gene: ENSMUSG00000075467

Domain	Start	End	E-Value	Type
low complexity region	38	67	N/A	INTRINSIC
Pfam:zf-DNL	74	139	4.1e-34	PFAM
low complexity region	158	172	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000100303
AA Change: L444P

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000097876
Gene: ENSMUSG00000026928
AA Change: L444P

Domain	Start	End	E-Value	Type
Pfam:CARD	11	97	7.1e-22	PFAM
coiled coil region	145	272	N/A	INTRINSIC
coiled coil region	375	415	N/A	INTRINSIC
low complexity region	482	494	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125198

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125848

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153370

Meta Mutation Damage Score

0.0604

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.7%
20x: 91.2%

Validation Efficiency

95% (81/85)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the CARD protein family, which is defined by the presence of a characteristic caspase-associated recruitment domain (CARD). CARD is a protein interaction domain known to participate in activation or suppression of CARD containing members of the caspase family, and thus plays an important regulatory role in cell apoptosis. This protein was identified by its selective association with the CARD domain of BCL10, a postive regulator of apoptosis and NF-kappaB activation, and is thought to function as a molecular scaffold for the assembly of a BCL10 signaling complex that activates NF-kappaB. Several alternatively spliced transcript variants have been observed, but their full-length nature is not clearly defined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for one allele of this gene display impaired immune responses to fungal infection but normal rates of bacterial clearance. However, homozygotes for a second allele display impaired bacterial clearance and impaired early innate immune responses. [provided by MGI curators]

Allele List at MGI

All alleles(6) : Targeted(5) Gene trapped(1)

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	T	A	10: 28,858,518 (GRCm39)	I50F	possibly damaging	Het
4930505A04Rik	T	C	11: 30,377,175 (GRCm39)		probably benign	Het
Aadat	A	T	8: 60,979,714 (GRCm39)	D192V	possibly damaging	Het
Akap12	A	G	10: 4,303,640 (GRCm39)	D150G	probably benign	Het
Amigo3	A	T	9: 107,931,231 (GRCm39)	N218I	probably damaging	Het
Ankmy1	A	G	1: 92,827,373 (GRCm39)	S60P	probably benign	Het
Apol7e	G	A	15: 77,602,029 (GRCm39)	S209N	probably damaging	Het
AW551984	A	T	9: 39,510,632 (GRCm39)	Y234*	probably null	Het
Bcam	A	T	7: 19,494,111 (GRCm39)	D393E	probably damaging	Het
Ccar1	T	C	10: 62,586,780 (GRCm39)	E886G	unknown	Het
Ccnb2	A	T	9: 70,317,559 (GRCm39)		probably null	Het
Cd276	T	C	9: 58,442,838 (GRCm39)	S206G	probably damaging	Het
Cds1	T	A	5: 101,965,828 (GRCm39)		probably benign	Het
Cfap96	G	A	8: 46,409,515 (GRCm39)	S268L	probably benign	Het
Chuk	T	C	19: 44,065,812 (GRCm39)	S661G	possibly damaging	Het
Col17a1	T	C	19: 47,639,276 (GRCm39)	N1090D	probably benign	Het
Col3a1	A	T	1: 45,367,026 (GRCm39)		probably null	Het
Crispld1	G	T	1: 17,821,024 (GRCm39)	V355F	possibly damaging	Het
Cspg4	A	T	9: 56,806,151 (GRCm39)	R2321W	probably damaging	Het
Dner	T	C	1: 84,563,177 (GRCm39)	T61A	probably benign	Het
Dnmt3a	A	T	12: 3,951,660 (GRCm39)	Y679F	probably damaging	Het
Dzip3	A	T	16: 48,798,241 (GRCm39)		probably benign	Het
Eif3l	T	C	15: 78,968,381 (GRCm39)	S217P	possibly damaging	Het
Fbxo42	T	A	4: 140,925,417 (GRCm39)		probably benign	Het
Fhod1	A	T	8: 106,063,957 (GRCm39)		probably benign	Het
Fzd1	T	A	5: 4,806,278 (GRCm39)	I435F	probably damaging	Het
Gapvd1	C	T	2: 34,602,207 (GRCm39)	V647I	possibly damaging	Het
Gm14496	T	C	2: 181,638,002 (GRCm39)	S359P	possibly damaging	Het
Gm5218	C	A	15: 81,383,741 (GRCm39)		noncoding transcript	Het
Hnrnph3	A	G	10: 62,851,579 (GRCm39)		probably null	Het
Hsd17b12	G	T	2: 93,864,321 (GRCm39)	T262K	probably damaging	Het
Igsf10	G	C	3: 59,237,838 (GRCm39)	P781R	probably damaging	Het
Il11ra1	T	A	4: 41,768,207 (GRCm39)	S373T	probably damaging	Het
Kdm3b	A	G	18: 34,942,345 (GRCm39)	D612G	probably damaging	Het
Ldb1	T	C	19: 46,022,903 (GRCm39)	T261A	probably damaging	Het
Lep	C	A	6: 29,069,089 (GRCm39)	H47N	possibly damaging	Het
Lrrtm2	A	T	18: 35,346,428 (GRCm39)	S291R	possibly damaging	Het
Ncor2	T	C	5: 125,162,062 (GRCm39)	Q404R	unknown	Het
Nlrp4d	T	C	7: 10,116,437 (GRCm39)	H148R	probably benign	Het
Nlrp9a	T	A	7: 26,258,093 (GRCm39)	D570E	probably benign	Het
Nphp3	G	A	9: 103,886,413 (GRCm39)	V202I	probably damaging	Het
Nptn	T	A	9: 58,548,073 (GRCm39)	N159K	probably benign	Het
Or4a69	T	A	2: 89,313,315 (GRCm39)	T55S	probably benign	Het
Or4a72	A	T	2: 89,405,746 (GRCm39)	V108D	possibly damaging	Het
Or51f2	G	A	7: 102,526,980 (GRCm39)	V218I	probably benign	Het
Or52a24	A	T	7: 103,381,585 (GRCm39)	T151S	possibly damaging	Het
Or8b53	A	T	9: 38,667,716 (GRCm39)	H244L	probably damaging	Het
Pcolce	T	A	5: 137,608,769 (GRCm39)	R13*	probably null	Het
Pdgfra	A	G	5: 75,353,264 (GRCm39)	Y1018C	probably damaging	Het
Prima1	A	G	12: 103,201,854 (GRCm39)	S74P	probably damaging	Het
Prl7c1	A	G	13: 27,962,838 (GRCm39)	L55P	probably damaging	Het
Rasef	A	G	4: 73,658,574 (GRCm39)	V513A	probably damaging	Het
Rgs1	T	C	1: 144,121,227 (GRCm39)		probably null	Het
Rlf	T	C	4: 121,005,488 (GRCm39)	E1164G	probably benign	Het
Rnf213	A	T	11: 119,354,171 (GRCm39)	N4016I	probably damaging	Het
Sae1	C	T	7: 16,064,537 (GRCm39)		probably null	Het
Serping1	A	T	2: 84,601,848 (GRCm39)	D207E	probably benign	Het
Setd2	T	A	9: 110,380,464 (GRCm39)	D33E	unknown	Het
Simc1	T	C	13: 54,673,071 (GRCm39)	M473T	probably benign	Het
Slc30a6	T	A	17: 74,725,610 (GRCm39)		probably benign	Het
Slc4a5	T	C	6: 83,242,669 (GRCm39)	L346P	probably damaging	Het
Spef2	T	A	15: 9,596,660 (GRCm39)	Q1473L	probably damaging	Het
St3gal3	G	T	4: 117,817,204 (GRCm39)	A44D	possibly damaging	Het
Sv2b	G	T	7: 74,797,425 (GRCm39)	T323K	probably damaging	Het
Sycp2	T	A	2: 177,993,461 (GRCm39)	N1228I	possibly damaging	Het
Thbs2	T	A	17: 14,910,030 (GRCm39)	M190L	probably benign	Het
Tnrc6a	G	A	7: 122,776,098 (GRCm39)	V1190I	probably benign	Het
Utrn	A	T	10: 12,312,029 (GRCm39)	I673K	possibly damaging	Het
Vmn2r114	C	T	17: 23,510,675 (GRCm39)	V602M	probably damaging	Het
Wdr7	A	T	18: 64,057,989 (GRCm39)	I1273L	probably benign	Het
Zfp618	T	C	4: 63,051,175 (GRCm39)	L652P	probably damaging	Het
Zfp804a	G	A	2: 81,884,095 (GRCm39)		probably benign	Het

Other mutations in Card9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01704:Card9	APN	2	26,246,874 (GRCm39)	missense	probably benign
IGL02397:Card9	APN	2	26,242,341 (GRCm39)	missense	probably damaging	1.00
IGL02506:Card9	APN	2	26,244,427 (GRCm39)	splice site	probably benign
IGL02536:Card9	APN	2	26,248,844 (GRCm39)	missense	possibly damaging	0.93
IGL02809:Card9	APN	2	26,246,876 (GRCm39)	missense	probably benign	0.01
IGL02962:Card9	APN	2	26,248,029 (GRCm39)	critical splice acceptor site	probably null
R1441:Card9	UTSW	2	26,249,402 (GRCm39)	missense	probably benign	0.01
R1755:Card9	UTSW	2	26,249,546 (GRCm39)	missense	probably damaging	0.99
R1959:Card9	UTSW	2	26,244,885 (GRCm39)	critical splice acceptor site	probably null
R2972:Card9	UTSW	2	26,247,222 (GRCm39)	missense	probably damaging	1.00
R4007:Card9	UTSW	2	26,243,012 (GRCm39)	missense	possibly damaging	0.95
R4283:Card9	UTSW	2	26,247,309 (GRCm39)	missense	possibly damaging	0.77
R4789:Card9	UTSW	2	26,247,632 (GRCm39)	missense	probably damaging	0.99
R5381:Card9	UTSW	2	26,248,895 (GRCm39)	missense	probably damaging	1.00
R5933:Card9	UTSW	2	26,242,509 (GRCm39)	missense	probably damaging	1.00
R6379:Card9	UTSW	2	26,246,789 (GRCm39)	missense	probably damaging	1.00
R7008:Card9	UTSW	2	26,247,811 (GRCm39)	missense	possibly damaging	0.96
R7124:Card9	UTSW	2	26,246,896 (GRCm39)	critical splice acceptor site	probably null
R7131:Card9	UTSW	2	26,248,847 (GRCm39)	missense	probably damaging	1.00
R7171:Card9	UTSW	2	26,249,496 (GRCm39)	missense	possibly damaging	0.78
R7237:Card9	UTSW	2	26,246,787 (GRCm39)	missense	probably benign	0.00
R7984:Card9	UTSW	2	26,246,784 (GRCm39)	missense	probably benign	0.00
R8023:Card9	UTSW	2	26,247,327 (GRCm39)	missense	probably benign	0.00
R8312:Card9	UTSW	2	26,247,801 (GRCm39)	nonsense	probably null
R8672:Card9	UTSW	2	26,247,950 (GRCm39)	missense	probably benign	0.30
R9135:Card9	UTSW	2	26,242,397 (GRCm39)	missense	probably benign	0.00
R9273:Card9	UTSW	2	26,247,310 (GRCm39)	missense	probably damaging	0.96
R9577:Card9	UTSW	2	26,242,344 (GRCm39)	missense	probably damaging	1.00
R9626:Card9	UTSW	2	26,247,294 (GRCm39)	missense	probably benign	0.39
Z1176:Card9	UTSW	2	26,247,808 (GRCm39)	missense	probably damaging	1.00
Z1177:Card9	UTSW	2	26,247,563 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ATCACTGTCCTCTGAGCCACAGAC -3'
(R):5'- TCTAAGCTGTTGCTGTGAGCGAAG -3'

Sequencing Primer
(F):5'- AAATCAGATTCCTTATTCTCCGGGTG -3'
(R):5'- TATCCTGGCCTCTCAGGACAAG -3'

Posted On

2014-04-24