Incidental Mutation 'IGL02536:Card9'
ID 297496
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02536
Quality Score
Status
Chromosome 2
Chromosomal Location 26242188-26250930 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 26248844 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 102 (V102I)
Ref Sequence ENSEMBL: ENSMUSP00000097876 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028294] [ENSMUST00000035427] [ENSMUST00000100303] [ENSMUST00000114115]
AlphaFold A2AIV8
Predicted Effect possibly damaging
Transcript: ENSMUST00000028294
AA Change: V102I

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000028294
Gene: ENSMUSG00000026928
AA Change: V102I

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 benign
Transcript: ENSMUST00000035427
SMART Domains Protein: ENSMUSP00000041767
Gene: ENSMUSG00000036281

DomainStartEndE-ValueType
low complexity region 33 52 N/A INTRINSIC
low complexity region 60 72 N/A INTRINSIC
coiled coil region 93 119 N/A INTRINSIC
low complexity region 200 212 N/A INTRINSIC
SANT 219 290 2.37e1 SMART
SANT 293 343 4.38e-10 SMART
SANT 345 397 3.05e-9 SMART
SANT 400 449 8.24e-15 SMART
SANT 452 501 7.8e-16 SMART
low complexity region 516 547 N/A INTRINSIC
Blast:SANT 550 753 1e-23 BLAST
low complexity region 893 909 N/A INTRINSIC
low complexity region 925 947 N/A INTRINSIC
low complexity region 971 983 N/A INTRINSIC
low complexity region 988 1007 N/A INTRINSIC
low complexity region 1157 1169 N/A INTRINSIC
low complexity region 1176 1190 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000100303
AA Change: V102I

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000097876
Gene: ENSMUSG00000026928
AA Change: V102I

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 probably benign
Transcript: ENSMUST00000114115
SMART Domains Protein: ENSMUSP00000109750
Gene: ENSMUSG00000036281

DomainStartEndE-ValueType
coiled coil region 3 29 N/A INTRINSIC
low complexity region 41 60 N/A INTRINSIC
low complexity region 68 80 N/A INTRINSIC
coiled coil region 101 127 N/A INTRINSIC
low complexity region 208 220 N/A INTRINSIC
SANT 227 298 2.37e1 SMART
SANT 301 351 4.38e-10 SMART
SANT 353 405 3.05e-9 SMART
SANT 408 457 8.24e-15 SMART
SANT 460 509 7.8e-16 SMART
low complexity region 524 555 N/A INTRINSIC
Blast:SANT 558 761 1e-23 BLAST
low complexity region 901 917 N/A INTRINSIC
low complexity region 933 955 N/A INTRINSIC
low complexity region 979 991 N/A INTRINSIC
low complexity region 996 1015 N/A INTRINSIC
low complexity region 1165 1177 N/A INTRINSIC
low complexity region 1184 1198 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125198
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135171
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149850
Coding Region Coverage
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930449A18Rik T A 3: 59,685,665 (GRCm39) noncoding transcript Het
Abca8b C T 11: 109,872,574 (GRCm39) R9H probably benign Het
Adamts8 T A 9: 30,873,368 (GRCm39) S858T probably benign Het
Alg1 C T 16: 5,057,023 (GRCm39) Q245* probably null Het
Ankmy1 T C 1: 92,813,910 (GRCm39) Y423C probably damaging Het
Anp32a A T 9: 62,279,110 (GRCm39) T55S probably damaging Het
Arhgef9 A C X: 94,102,443 (GRCm39) V406G probably damaging Het
Bdkrb1 T C 12: 105,571,259 (GRCm39) F275S possibly damaging Het
Ccdc81 A T 7: 89,526,788 (GRCm39) probably benign Het
Cd101 T A 3: 100,910,913 (GRCm39) D915V probably damaging Het
Cdk10 A G 8: 123,953,754 (GRCm39) D77G possibly damaging Het
Ctnnd1 T C 2: 84,435,540 (GRCm39) T827A probably benign Het
Dspp A C 5: 104,323,531 (GRCm39) T225P probably damaging Het
Evpl T C 11: 116,112,035 (GRCm39) E1885G probably damaging Het
Fstl4 C T 11: 53,024,851 (GRCm39) probably benign Het
Gm5930 T A 14: 44,575,015 (GRCm39) N57I probably damaging Het
Gnl2 C T 4: 124,946,401 (GRCm39) Q541* probably null Het
Igkv3-1 T C 6: 70,681,035 (GRCm39) V78A probably benign Het
Inpp5a T C 7: 139,147,338 (GRCm39) I321T probably benign Het
Kif20b T A 19: 34,951,959 (GRCm39) S1746T probably benign Het
Lrrc8c T C 5: 105,755,038 (GRCm39) I271T probably benign Het
Mrps10 T C 17: 47,685,928 (GRCm39) Y152H probably damaging Het
Myl9 C T 2: 156,620,469 (GRCm39) S2L probably damaging Het
Myof A T 19: 37,938,103 (GRCm39) H870Q probably damaging Het
Nfatc4 A T 14: 56,067,367 (GRCm39) I456F probably damaging Het
Notch2 A G 3: 98,009,723 (GRCm39) H550R probably benign Het
Or13f5 T A 4: 52,825,817 (GRCm39) V140D possibly damaging Het
Or14j2 T A 17: 37,885,817 (GRCm39) I166F probably damaging Het
Or51v8 T A 7: 103,320,164 (GRCm39) I25F possibly damaging Het
Or8b47 T C 9: 38,435,460 (GRCm39) L144P probably damaging Het
P2rx1 A T 11: 72,903,300 (GRCm39) I230F probably damaging Het
Pcnt A G 10: 76,216,063 (GRCm39) V2275A possibly damaging Het
Pip5k1a G A 3: 94,971,707 (GRCm39) T465I probably benign Het
Pnkd G A 1: 74,391,059 (GRCm39) R415H probably damaging Het
Prdx4 T A X: 154,115,443 (GRCm39) I132F probably damaging Het
Pvr A G 7: 19,652,717 (GRCm39) M66T probably benign Het
Rnf216 A G 5: 143,065,995 (GRCm39) I531T probably benign Het
Rps6ka4 A T 19: 6,809,439 (GRCm39) F405Y probably damaging Het
Serpinb2 A G 1: 107,452,679 (GRCm39) probably benign Het
Sfxn1 A G 13: 54,239,513 (GRCm39) K12R probably benign Het
Slc17a7 A G 7: 44,820,370 (GRCm39) E275G probably damaging Het
Tnpo2 A T 8: 85,771,696 (GRCm39) I245F probably benign Het
Ush2a A T 1: 188,689,463 (GRCm39) probably null Het
Yju2b A T 8: 84,987,245 (GRCm39) Y109* probably null Het
Zcchc4 C T 5: 52,965,658 (GRCm39) R321W 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
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
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
Posted On 2015-04-16