Incidental Mutation 'R7124:Card9'
ID 552175
Institutional Source Beutler Lab
Gene Symbol Card9
Ensembl Gene ENSMUSG00000026928
Gene Name caspase recruitment domain family, member 9
Synonyms LOC332579
MMRRC Submission 045212-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7124 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 26242188-26250930 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) C to T at 26246896 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000097876 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028294] [ENSMUST00000028295] [ENSMUST00000100303]
AlphaFold A2AIV8
Predicted Effect probably null
Transcript: ENSMUST00000028294
SMART Domains Protein: ENSMUSP00000028294
Gene: ENSMUSG00000026928

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: ENSMUST00000028295
SMART Domains Protein: ENSMUSP00000028295
Gene: ENSMUSG00000075467

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000100303
SMART Domains Protein: ENSMUSP00000097876
Gene: ENSMUSG00000026928

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
Meta Mutation Damage Score 0.9486 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 97% (72/74)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A C 3: 124,208,042 (GRCm39) S212R probably benign Het
4930562C15Rik T C 16: 4,682,196 (GRCm39) S170P probably benign Het
9330182O14Rik G A 15: 40,008,303 (GRCm39) C59Y unknown Het
AA986860 A G 1: 130,670,624 (GRCm39) E282G possibly damaging Het
Adam1a G T 5: 121,657,397 (GRCm39) T632K probably benign Het
Aspg G T 12: 112,089,417 (GRCm39) A402S probably damaging Het
Capn7 C T 14: 31,058,642 (GRCm39) probably benign Het
Cdh13 T C 8: 119,694,912 (GRCm39) V254A probably damaging Het
Colec10 T C 15: 54,325,767 (GRCm39) V199A probably damaging Het
Copb2 T C 9: 98,459,106 (GRCm39) S283P probably damaging Het
Csmd1 G T 8: 15,953,202 (GRCm39) S3426R probably damaging Het
Cyp4f14 A G 17: 33,133,562 (GRCm39) V98A probably benign Het
Disp1 C A 1: 182,869,030 (GRCm39) R1130L probably damaging Het
Dysf A G 6: 84,167,883 (GRCm39) probably null Het
Efcab3 T C 11: 104,629,100 (GRCm39) F926S probably benign Het
Eif4ebp1 T C 8: 27,763,447 (GRCm39) V80A probably damaging Het
Eloa T A 4: 135,736,452 (GRCm39) I565F probably damaging Het
Espn G T 4: 152,215,721 (GRCm39) H513N probably benign Het
Fam83c C T 2: 155,671,491 (GRCm39) S648N probably benign Het
Fdxr C T 11: 115,160,403 (GRCm39) V351M probably benign Het
Fras1 A T 5: 96,862,260 (GRCm39) D2213V probably damaging Het
Gbp4 T A 5: 105,267,825 (GRCm39) I474F possibly damaging Het
Golgb1 T C 16: 36,734,035 (GRCm39) V1135A probably benign Het
Gpt2 G A 8: 86,244,681 (GRCm39) E325K probably benign Het
Hipk2 A T 6: 38,795,413 (GRCm39) Y285* probably null Het
Ifi27l2b T C 12: 103,417,579 (GRCm39) I203V probably damaging Het
Itga10 T A 3: 96,559,081 (GRCm39) M390K probably damaging Het
Itgb8 G T 12: 119,166,159 (GRCm39) S124* probably null Het
Klhdc10 T A 6: 30,441,826 (GRCm39) F173I probably damaging Het
Kng2 T G 16: 22,830,805 (GRCm39) N168T probably damaging Het
Krtap24-1 T C 16: 88,408,434 (GRCm39) T231A probably damaging Het
Lbx2 A T 6: 83,065,045 (GRCm39) D194V probably damaging Het
Lrrc39 C A 3: 116,359,562 (GRCm39) Q36K probably benign Het
Madd T C 2: 90,992,393 (GRCm39) E1093G possibly damaging Het
Mfap3l A G 8: 61,124,303 (GRCm39) T182A probably damaging Het
Myo9b T A 8: 71,786,345 (GRCm39) Y670* probably null Het
Nbea A G 3: 55,899,865 (GRCm39) L1428P probably damaging Het
Nkx2-3 T C 19: 43,603,245 (GRCm39) Y284H possibly damaging Het
Nphp4 A G 4: 152,640,141 (GRCm39) D1009G probably benign Het
Npy2r G A 3: 82,448,490 (GRCm39) A95V probably damaging Het
Nuggc A G 14: 65,846,251 (GRCm39) E70G probably damaging Het
Or5ap2 T C 2: 85,680,254 (GRCm39) S153P probably benign Het
Or5m11 T A 2: 85,781,817 (GRCm39) S137T possibly damaging Het
Palld A T 8: 61,969,679 (GRCm39) V1215D unknown Het
Pard6g T C 18: 80,160,340 (GRCm39) I151T possibly damaging Het
Parp12 T C 6: 39,088,670 (GRCm39) I189V probably benign Het
Parp4 A G 14: 56,840,256 (GRCm39) I554V probably benign Het
Pcnx2 G A 8: 126,480,356 (GRCm39) P1984S probably damaging Het
Piwil4 T C 9: 14,648,196 (GRCm39) M128V probably benign Het
Polr2a C A 11: 69,628,288 (GRCm39) E1302* probably null Het
Psg17 C A 7: 18,548,421 (GRCm39) G450V probably damaging Het
Psg17 C G 7: 18,548,422 (GRCm39) G450R probably damaging Het
Rag1 T C 2: 101,474,128 (GRCm39) E338G probably damaging Het
Rev3l A T 10: 39,698,163 (GRCm39) K887* probably null Het
Rragd T C 4: 32,996,027 (GRCm39) F124S possibly damaging Het
Scube1 A T 15: 83,513,712 (GRCm39) probably null Het
Sfpq A T 4: 126,919,725 (GRCm39) D490V possibly damaging Het
Smc1b G T 15: 84,955,798 (GRCm39) Q1034K probably damaging Het
Smg7 T C 1: 152,753,831 (GRCm39) N5S probably benign Het
Spata31d1a A C 13: 59,850,301 (GRCm39) L609R probably damaging Het
Ssh2 A G 11: 77,345,164 (GRCm39) K1050E probably benign Het
Stab1 G A 14: 30,882,824 (GRCm39) T393I possibly damaging Het
Sult2a4 C T 7: 13,722,320 (GRCm39) W49* probably null Het
Thrap3 A T 4: 126,074,231 (GRCm39) S172T unknown Het
Tmem130 A G 5: 144,687,721 (GRCm39) V205A probably damaging Het
Ube2d2b A G 5: 107,978,717 (GRCm39) I123V probably benign Het
Unc79 G T 12: 103,027,652 (GRCm39) L414F probably damaging Het
Vmn2r30 C T 7: 7,337,183 (GRCm39) S151N probably benign Het
Vmn2r54 T A 7: 12,356,078 (GRCm39) T443S probably benign Het
Zfp229 T A 17: 21,961,597 (GRCm39) S51T probably damaging Het
Zfp617 T C 8: 72,686,384 (GRCm39) L238P probably damaging Het
Zfp707 T A 15: 75,845,398 (GRCm39) C87* probably null Het
Zfp853 T C 5: 143,275,362 (GRCm39) K101R unknown 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
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
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'- GACTACTGCTCCAGTGTCTG -3'
(R):5'- CTTTGGGCTTACAGTGTGACC -3'

Sequencing Primer
(F):5'- GTGTCTGCCGCACCAATAC -3'
(R):5'- GGCTTACAGTGTGACCAATGG -3'
Posted On 2019-05-15