Incidental Mutation 'R4789:Card9'
ID 367295
Institutional Source Beutler Lab
Gene Symbol Card9
Ensembl Gene ENSMUSG00000026928
Gene Name caspase recruitment domain family, member 9
Synonyms LOC332579
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4789 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 26242188-26250930 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 26247632 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 218 (M218L)
Ref Sequence ENSEMBL: ENSMUSP00000097876 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028294] [ENSMUST00000100303]
AlphaFold A2AIV8
Predicted Effect probably damaging
Transcript: ENSMUST00000028294
AA Change: M218L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000028294
Gene: ENSMUSG00000026928
AA Change: M218L

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000100303
AA Change: M218L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000097876
Gene: ENSMUSG00000026928
AA Change: M218L

DomainStartEndE-ValueType
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: ENSMUST00000153370
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110004F10Rik C A 7: 115,692,757 (GRCm39) D20E probably benign Het
Abcb9 T A 5: 124,216,853 (GRCm39) M455L probably benign Het
Add2 G A 6: 86,095,752 (GRCm39) V475M probably benign Het
Apoh T A 11: 108,300,064 (GRCm39) Y238N probably damaging Het
Arpp21 A G 9: 111,896,360 (GRCm39) S681P probably benign Het
Atp1a3 A C 7: 24,698,389 (GRCm39) F149C probably damaging Het
B9d1 A G 11: 61,397,186 (GRCm39) D27G probably benign Het
Bfar T A 16: 13,503,001 (GRCm39) M1K probably null Het
Bok T C 1: 93,616,963 (GRCm39) V103A probably damaging Het
Brca1 A C 11: 101,414,758 (GRCm39) H1125Q probably benign Het
Cers1 T C 8: 70,776,018 (GRCm39) V303A probably damaging Het
Col6a5 T C 9: 105,814,534 (GRCm39) I493V unknown Het
Coro7 T C 16: 4,446,085 (GRCm39) Y880C probably damaging Het
Cyp2b19 T C 7: 26,463,801 (GRCm39) Y318H probably benign Het
Dennd3 T A 15: 73,394,131 (GRCm39) L52Q probably damaging Het
Dlat A T 9: 50,570,670 (GRCm39) C33S probably benign Het
Dmxl2 T A 9: 54,287,099 (GRCm39) Q2646L probably benign Het
Dnah3 T C 7: 119,610,295 (GRCm39) N1703D probably damaging Het
Dock10 T A 1: 80,518,998 (GRCm39) H1241L probably damaging Het
Fbxl17 T G 17: 63,794,910 (GRCm39) I391L probably benign Het
Fdxacb1 A G 9: 50,681,418 (GRCm39) D113G possibly damaging Het
Flii A G 11: 60,605,919 (GRCm39) S1185P probably benign Het
Gm14496 A T 2: 181,637,577 (GRCm39) Q217L possibly damaging Het
Heatr9 A T 11: 83,410,018 (GRCm39) D74E probably benign Het
Heca C A 10: 17,783,895 (GRCm39) E91* probably null Het
Ikzf4 T G 10: 128,468,575 (GRCm39) T635P probably benign Het
Kif17 C T 4: 138,008,688 (GRCm39) P382S probably damaging Het
Kmt5b T C 19: 3,865,330 (GRCm39) V775A probably benign Het
Mapk8ip2 T A 15: 89,343,241 (GRCm39) F661Y probably damaging Het
Mapkap1 A G 2: 34,423,859 (GRCm39) E111G possibly damaging Het
Med9 T A 11: 59,839,266 (GRCm39) N58K probably benign Het
Mid2 T A X: 139,578,981 (GRCm39) Y61N probably damaging Het
Mief1 T A 15: 80,132,080 (GRCm39) Y50* probably null Het
Mios T C 6: 8,235,429 (GRCm39) M859T probably benign Het
Muc5ac G T 7: 141,352,619 (GRCm39) C702F possibly damaging Het
Nkiras1 T C 14: 18,276,935 (GRCm38) probably benign Het
Or11i1 A C 3: 106,729,608 (GRCm39) I89R possibly damaging Het
Or11i1 T A 3: 106,729,624 (GRCm39) M84L possibly damaging Het
Or56a3b T G 7: 104,771,520 (GRCm39) H285Q probably null Het
Or5ae2 T A 7: 84,506,509 (GRCm39) C311S probably benign Het
Pcsk5 C T 19: 17,410,963 (GRCm39) V1810M probably benign Het
Pex1 T C 5: 3,680,270 (GRCm39) V964A probably damaging Het
Pgm2l1 A T 7: 99,916,794 (GRCm39) M471L probably benign Het
Pkd1l2 T C 8: 117,738,314 (GRCm39) T2182A probably damaging Het
Plscr1l1 G A 9: 92,233,084 (GRCm39) C69Y probably damaging Het
Polr1b T A 2: 128,951,257 (GRCm39) I290K probably benign Het
Prkg1 T A 19: 31,563,045 (GRCm39) M119L probably damaging Het
Rbl1 A G 2: 157,019,275 (GRCm39) V490A probably benign Het
Shtn1 G C 19: 59,039,305 (GRCm39) R45G probably damaging Het
Slc10a6 T A 5: 103,776,848 (GRCm39) Y84F probably benign Het
Slc25a23 T C 17: 57,366,597 (GRCm39) D26G probably damaging Het
Slc41a2 T C 10: 83,152,320 (GRCm39) K52E probably damaging Het
Slc4a5 T C 6: 83,247,951 (GRCm39) F501L probably benign Het
Slfn5 T A 11: 82,847,226 (GRCm39) M37K probably benign Het
Sptbn1 A C 11: 30,067,759 (GRCm39) F1818L probably benign Het
Taf3 T C 2: 9,956,770 (GRCm39) T466A probably damaging Het
Thbs2 C T 17: 14,891,750 (GRCm39) G929D probably damaging Het
Tmc3 A T 7: 83,271,746 (GRCm39) D995V probably damaging Het
Tmem262 T C 19: 6,130,452 (GRCm39) F59L possibly damaging Het
Triobp A G 15: 78,875,228 (GRCm39) D137G probably damaging Het
Tspear T C 10: 77,702,199 (GRCm39) F211L possibly damaging Het
Ttn A T 2: 76,728,670 (GRCm39) probably benign Het
Ugt2b5 T A 5: 87,287,550 (GRCm39) M206L probably benign Het
Ush1g A T 11: 115,209,466 (GRCm39) S243T probably damaging Het
Usp19 A T 9: 108,370,433 (GRCm39) T86S possibly damaging Het
Wdhd1 A G 14: 47,506,149 (GRCm39) V255A probably benign Het
Wdr11 G A 7: 129,220,394 (GRCm39) W594* probably null Het
Wnk3 T A X: 149,993,933 (GRCm39) Y331* probably null Het
Zfp429 A T 13: 67,538,523 (GRCm39) I307K probably benign Het
Zkscan14 T A 5: 145,132,444 (GRCm39) K362N probably damaging Het
Other mutations in Card9
AlleleSourceChrCoordTypePredicted EffectPPH 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
R1585:Card9 UTSW 2 26,244,398 (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
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'- ACTGCAGTTGTACCATCTGG -3'
(R):5'- AACTATGAGCTGGCCATGTG -3'

Sequencing Primer
(F):5'- ATGAGGCCTGATGTGCAC -3'
(R):5'- TGCCTGGCACATCTGAGTGAAG -3'
Posted On 2015-12-29