Incidental Mutation 'R7831:Card11'
ID 605611
Institutional Source Beutler Lab
Gene Symbol Card11
Ensembl Gene ENSMUSG00000036526
Gene Name caspase recruitment domain family, member 11
Synonyms 2410011D02Rik, BIMP3, CARMA1, 0610008L17Rik
MMRRC Submission 045885-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7831 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 140858745-140986337 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 140859167 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 1126 (S1126R)
Ref Sequence ENSEMBL: ENSMUSP00000082941 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085786]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000085786
AA Change: S1126R

PolyPhen 2 Score 0.609 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000082941
Gene: ENSMUSG00000036526
AA Change: S1126R

DomainStartEndE-ValueType
Pfam:CARD 23 109 1.3e-23 PFAM
coiled coil region 176 440 N/A INTRINSIC
low complexity region 475 487 N/A INTRINSIC
low complexity region 535 549 N/A INTRINSIC
low complexity region 615 625 N/A INTRINSIC
PDZ 674 755 2.73e-1 SMART
Blast:SH3 776 838 1e-10 BLAST
low complexity region 839 850 N/A INTRINSIC
low complexity region 920 934 N/A INTRINSIC
SCOP:d1kjwa2 970 1149 1e-18 SMART
Blast:GuKc 973 1139 1e-102 BLAST
Meta Mutation Damage Score 0.1712 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (87/87)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the membrane-associated guanylate kinase (MAGUK) family, a class of proteins that functions as molecular scaffolds for the assembly of multiprotein complexes at specialized regions of the plasma membrane. This protein is also a member of the CARD protein family, which is defined by carrying a characteristic caspase-associated recruitment domain (CARD). This protein has a domain structure similar to that of CARD14 protein. The CARD domains of both proteins have been shown to specifically interact with BCL10, a protein known to function as a positive regulator of cell apoptosis and NF-kappaB activation. When expressed in cells, this protein activated NF-kappaB and induced the phosphorylation of BCL10. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit defects in antigen receptor signalling in both T and B lymphocytes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 G A 11: 9,247,404 (GRCm39) V2384I possibly damaging Het
Acsl1 A G 8: 46,972,043 (GRCm39) D297G probably benign Het
Ap2a1 C A 7: 44,550,436 (GRCm39) R944L probably damaging Het
Apbb1ip A G 2: 22,756,933 (GRCm39) Y398C probably damaging Het
Atp8a2 A T 14: 60,011,202 (GRCm39) V968D probably damaging Het
Becn1 T C 11: 101,181,279 (GRCm39) T341A probably benign Het
Ccdc51 T C 9: 108,921,058 (GRCm39) L315S probably damaging Het
Cdk12 T C 11: 98,140,653 (GRCm39) L1298P unknown Het
Cep170b A T 12: 112,711,234 (GRCm39) D1538V probably benign Het
Cfap52 A T 11: 67,826,782 (GRCm39) F348I possibly damaging Het
Clip1 A T 5: 123,751,342 (GRCm39) M813K Het
Col19a1 G A 1: 24,565,563 (GRCm39) T256I unknown Het
Col6a3 A T 1: 90,724,268 (GRCm39) C2027* probably null Het
Crisp4 A T 1: 18,199,013 (GRCm39) N140K probably benign Het
Crocc2 G T 1: 93,143,195 (GRCm39) A1266S probably benign Het
Cyfip2 G A 11: 46,087,273 (GRCm39) R1206C probably damaging Het
Cyp24a1 T A 2: 170,327,860 (GRCm39) M461L probably damaging Het
Cyp2a5 C T 7: 26,534,940 (GRCm39) T51I possibly damaging Het
Cyp2b19 C T 7: 26,466,565 (GRCm39) H398Y possibly damaging Het
Cyp4a29 G A 4: 115,107,367 (GRCm39) V234I probably benign Het
Dicer1 T G 12: 104,675,059 (GRCm39) K734N probably damaging Het
Dnai1 T C 4: 41,614,695 (GRCm39) probably null Het
Entpd3 G A 9: 120,373,025 (GRCm39) G14D probably damaging Het
Entrep3 G A 3: 89,091,520 (GRCm39) probably null Het
Ermp1 T C 19: 29,595,367 (GRCm39) T634A probably benign Het
Evc C T 5: 37,476,427 (GRCm39) G374D probably damaging Het
Fcgbp C A 7: 27,806,404 (GRCm39) T2124K probably damaging Het
Fgf8 G A 19: 45,730,876 (GRCm39) P50S probably benign Het
Fmnl1 C T 11: 103,088,999 (GRCm39) R1074W unknown Het
Galnt18 C T 7: 111,155,665 (GRCm39) V223M possibly damaging Het
Galnt2 A G 8: 125,058,817 (GRCm39) N295S probably benign Het
Grip1 T G 10: 119,854,011 (GRCm39) V600G probably damaging Het
Insm2 T A 12: 55,647,323 (GRCm39) C356S probably damaging Het
Itpr2 T A 6: 146,193,082 (GRCm39) I1672F probably benign Het
Kdm1b T G 13: 47,204,098 (GRCm39) N76K probably benign Het
Khnyn T A 14: 56,125,303 (GRCm39) probably null Het
Kidins220 C T 12: 25,111,230 (GRCm39) A1167V possibly damaging Het
Krt40 T C 11: 99,432,087 (GRCm39) D208G probably benign Het
Lars1 T A 18: 42,350,627 (GRCm39) D894V probably benign Het
Lmx1a A T 1: 167,668,521 (GRCm39) N266I probably benign Het
Mrgprb5 T A 7: 47,817,997 (GRCm39) K246M probably benign Het
Mrpl2 G A 17: 46,959,598 (GRCm39) G176R possibly damaging Het
Muc21 T A 17: 35,929,651 (GRCm39) T1512S unknown Het
Nell1 T A 7: 49,632,548 (GRCm39) F60L possibly damaging Het
Nnt G A 13: 119,506,630 (GRCm39) A453V possibly damaging Het
Opa1 A G 16: 29,467,755 (GRCm39) K940R probably benign Het
Opn5 A C 17: 42,891,510 (GRCm39) I309S probably null Het
Or1af1 C T 2: 37,109,723 (GRCm39) T74I probably damaging Het
Or1r1 A C 11: 73,875,257 (GRCm39) M59R probably damaging Het
Or2ag15 T A 7: 106,340,620 (GRCm39) I174F probably damaging Het
P3h3 T G 6: 124,832,118 (GRCm39) E256A possibly damaging Het
Pald1 G T 10: 61,191,593 (GRCm39) T65K probably damaging Het
Pcnx3 T C 19: 5,735,989 (GRCm39) Y279C probably damaging Het
Pik3c2b G A 1: 132,998,980 (GRCm39) S367N possibly damaging Het
Pik3cb T C 9: 98,970,666 (GRCm39) T342A probably benign Het
Pkd1l3 A T 8: 110,357,990 (GRCm39) E837D possibly damaging Het
Ppp2r2b T A 18: 42,834,597 (GRCm39) Y191F probably benign Het
Ppp4r4 G A 12: 103,557,080 (GRCm39) E439K possibly damaging Het
Ptprk A G 10: 28,444,404 (GRCm39) I946V possibly damaging Het
Ror1 A G 4: 100,298,295 (GRCm39) N556S probably benign Het
Ryr3 C T 2: 112,757,183 (GRCm39) A391T possibly damaging Het
Selp G A 1: 163,972,584 (GRCm39) probably null Het
Setx T C 2: 29,047,120 (GRCm39) L1866S probably damaging Het
Setx T A 2: 29,069,866 (GRCm39) V2557E possibly damaging Het
Slc66a3 T A 12: 17,047,632 (GRCm39) probably null Het
Slit2 A G 5: 48,402,025 (GRCm39) T805A probably benign Het
Sorbs3 T G 14: 70,440,481 (GRCm39) N89T possibly damaging Het
Sorl1 C A 9: 42,001,257 (GRCm39) V248L probably benign Het
Srebf2 T A 15: 82,066,288 (GRCm39) V612E probably damaging Het
Sv2c T A 13: 96,113,200 (GRCm39) Y583F probably damaging Het
Tada1 G T 1: 166,217,442 (GRCm39) R193I probably damaging Het
Tnrc6b C G 15: 80,764,580 (GRCm39) A694G possibly damaging Het
Ttll3 CAAAGTAA CAAAGTAAAGTAA 6: 113,376,118 (GRCm39) probably null Het
Ttn C T 2: 76,711,425 (GRCm39) G8372D unknown Het
Ube2g2 A G 10: 77,470,576 (GRCm39) T68A Het
Ubl7 T G 9: 57,821,918 (GRCm39) V89G possibly damaging Het
Ush2a T A 1: 188,492,038 (GRCm39) I3109N probably damaging Het
Utp20 T A 10: 88,598,632 (GRCm39) K115* probably null Het
Vmn2r26 T A 6: 124,016,758 (GRCm39) Y407* probably null Het
Yod1 G T 1: 130,646,986 (GRCm39) V288F probably damaging Het
Zbed5 A C 5: 129,930,798 (GRCm39) N249T possibly damaging Het
Zbtb5 T C 4: 44,995,244 (GRCm39) T47A probably damaging Het
Zcchc14 T C 8: 122,331,984 (GRCm39) T460A not run Het
Zfp712 A C 13: 67,200,483 (GRCm39) probably null Het
Zfyve16 A T 13: 92,658,836 (GRCm39) H358Q probably benign Het
Other mutations in Card11
AlleleSourceChrCoordTypePredicted EffectPPH Score
unmodulated APN 5 140,897,997 (GRCm38) intron probably benign
IGL00961:Card11 APN 5 140,885,464 (GRCm39) missense probably damaging 0.97
IGL01645:Card11 APN 5 140,863,778 (GRCm39) missense probably benign 0.00
IGL01731:Card11 APN 5 140,868,057 (GRCm39) missense possibly damaging 0.89
IGL01782:Card11 APN 5 140,913,481 (GRCm39) start codon destroyed probably null 0.02
IGL01935:Card11 APN 5 140,869,301 (GRCm39) missense possibly damaging 0.62
IGL01991:Card11 APN 5 140,899,133 (GRCm39) missense possibly damaging 0.63
IGL02447:Card11 APN 5 140,892,679 (GRCm39) missense possibly damaging 0.93
IGL02583:Card11 APN 5 140,863,881 (GRCm39) missense probably benign 0.10
IGL03255:Card11 APN 5 140,884,086 (GRCm39) missense possibly damaging 0.73
Ace UTSW 5 140,888,632 (GRCm39) missense possibly damaging 0.70
Caravaggio UTSW 5 140,899,064 (GRCm39) missense probably damaging 1.00
Dealer UTSW 5 140,871,632 (GRCm39) missense probably damaging 1.00
Dogs UTSW 5 140,867,755 (GRCm39) critical splice donor site probably null
Face UTSW 5 140,886,732 (GRCm39) missense probably damaging 1.00
hubei UTSW 5 140,892,522 (GRCm39) missense probably damaging 0.96
king UTSW 5 140,876,835 (GRCm39) splice site probably benign
may UTSW 5 140,862,250 (GRCm39) nonsense probably null
Poker UTSW 5 140,863,837 (GRCm39) missense probably benign
Sharp UTSW 5 140,862,180 (GRCm39) missense possibly damaging 0.93
Tumnus UTSW 5 140,871,700 (GRCm39) missense possibly damaging 0.75
unmodulated2 UTSW 5 140,869,537 (GRCm39) splice site probably null
PIT4243001:Card11 UTSW 5 140,894,359 (GRCm39) missense possibly damaging 0.95
PIT4486001:Card11 UTSW 5 140,862,163 (GRCm39) missense probably damaging 1.00
PIT4531001:Card11 UTSW 5 140,892,415 (GRCm39) missense probably damaging 0.99
R0046:Card11 UTSW 5 140,894,279 (GRCm39) missense possibly damaging 0.92
R0285:Card11 UTSW 5 140,872,856 (GRCm39) missense probably damaging 1.00
R0452:Card11 UTSW 5 140,866,125 (GRCm39) missense probably benign 0.01
R1486:Card11 UTSW 5 140,862,274 (GRCm39) missense probably benign
R1710:Card11 UTSW 5 140,888,660 (GRCm39) nonsense probably null
R1733:Card11 UTSW 5 140,892,388 (GRCm39) missense possibly damaging 0.88
R1817:Card11 UTSW 5 140,871,315 (GRCm39) missense probably benign 0.00
R1818:Card11 UTSW 5 140,871,315 (GRCm39) missense probably benign 0.00
R2027:Card11 UTSW 5 140,892,522 (GRCm39) missense probably damaging 0.96
R2436:Card11 UTSW 5 140,868,117 (GRCm39) missense possibly damaging 0.89
R2904:Card11 UTSW 5 140,874,888 (GRCm39) missense probably benign 0.09
R3706:Card11 UTSW 5 140,872,890 (GRCm39) missense probably damaging 0.99
R3708:Card11 UTSW 5 140,872,890 (GRCm39) missense probably damaging 0.99
R4778:Card11 UTSW 5 140,869,537 (GRCm39) splice site probably null
R4877:Card11 UTSW 5 140,871,632 (GRCm39) missense probably damaging 1.00
R4889:Card11 UTSW 5 140,871,700 (GRCm39) missense possibly damaging 0.75
R4910:Card11 UTSW 5 140,860,169 (GRCm39) missense probably damaging 1.00
R5011:Card11 UTSW 5 140,862,275 (GRCm39) missense possibly damaging 0.93
R5257:Card11 UTSW 5 140,862,180 (GRCm39) missense possibly damaging 0.93
R5258:Card11 UTSW 5 140,862,180 (GRCm39) missense possibly damaging 0.93
R5682:Card11 UTSW 5 140,888,666 (GRCm39) nonsense probably null
R5754:Card11 UTSW 5 140,885,524 (GRCm39) missense probably damaging 0.99
R5873:Card11 UTSW 5 140,894,393 (GRCm39) missense probably damaging 1.00
R6184:Card11 UTSW 5 140,884,033 (GRCm39) missense probably damaging 1.00
R6792:Card11 UTSW 5 140,899,064 (GRCm39) missense probably damaging 1.00
R6825:Card11 UTSW 5 140,863,837 (GRCm39) missense probably benign
R7008:Card11 UTSW 5 140,859,148 (GRCm39) missense probably damaging 1.00
R7291:Card11 UTSW 5 140,886,825 (GRCm39) missense probably damaging 1.00
R7376:Card11 UTSW 5 140,883,993 (GRCm39) missense probably benign 0.01
R7526:Card11 UTSW 5 140,899,184 (GRCm39) splice site probably null
R7683:Card11 UTSW 5 140,881,781 (GRCm39) missense probably benign
R7730:Card11 UTSW 5 140,871,751 (GRCm39) missense probably damaging 0.96
R7813:Card11 UTSW 5 140,885,419 (GRCm39) missense probably damaging 1.00
R7911:Card11 UTSW 5 140,867,755 (GRCm39) critical splice donor site probably null
R8154:Card11 UTSW 5 140,886,732 (GRCm39) missense probably damaging 1.00
R8224:Card11 UTSW 5 140,888,632 (GRCm39) missense possibly damaging 0.70
R8272:Card11 UTSW 5 140,875,794 (GRCm39) missense probably damaging 1.00
R8714:Card11 UTSW 5 140,899,147 (GRCm39) missense possibly damaging 0.67
R8715:Card11 UTSW 5 140,871,315 (GRCm39) missense probably benign 0.00
R9065:Card11 UTSW 5 140,894,297 (GRCm39) missense probably damaging 1.00
R9211:Card11 UTSW 5 140,869,375 (GRCm39) missense probably benign 0.16
R9215:Card11 UTSW 5 140,866,154 (GRCm39) missense possibly damaging 0.64
R9269:Card11 UTSW 5 140,892,516 (GRCm39) missense probably damaging 0.99
R9385:Card11 UTSW 5 140,871,276 (GRCm39) missense probably benign 0.44
R9421:Card11 UTSW 5 140,869,462 (GRCm39) missense probably damaging 0.97
R9424:Card11 UTSW 5 140,894,395 (GRCm39) missense probably damaging 1.00
R9444:Card11 UTSW 5 140,894,393 (GRCm39) missense probably damaging 1.00
V7732:Card11 UTSW 5 140,862,250 (GRCm39) nonsense probably null
X0067:Card11 UTSW 5 140,871,347 (GRCm39) missense possibly damaging 0.60
Z1177:Card11 UTSW 5 140,883,996 (GRCm39) missense probably benign 0.43
Predicted Primers PCR Primer
(F):5'- GGGGTTGCTCATCTCTGTTCAC -3'
(R):5'- TCACACTGTGAGCATCGAGC -3'

Sequencing Primer
(F):5'- TCTGTTCACGCCAGCAGAG -3'
(R):5'- ATCGAGCCCTGCAGCCTC -3'
Posted On 2019-12-20