Incidental Mutation 'R4274:Card10'
ID 324731
Institutional Source Beutler Lab
Gene Symbol Card10
Ensembl Gene ENSMUSG00000033170
Gene Name caspase recruitment domain family, member 10
Synonyms Bimp1, CARMA3
MMRRC Submission 041077-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R4274 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 78659338-78687242 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 78664714 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 747 (R747W)
Ref Sequence ENSEMBL: ENSMUSP00000131003 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164826] [ENSMUST00000170584]
AlphaFold P58660
Predicted Effect probably damaging
Transcript: ENSMUST00000164826
AA Change: R796W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000129513
Gene: ENSMUSG00000033170
AA Change: R796W

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
low complexity region 54 75 N/A INTRINSIC
Pfam:CARD 77 163 1.1e-22 PFAM
coiled coil region 188 498 N/A INTRINSIC
low complexity region 508 523 N/A INTRINSIC
low complexity region 607 614 N/A INTRINSIC
low complexity region 692 706 N/A INTRINSIC
PDB:3SHW|A 744 1055 1e-7 PDB
Blast:SH3 747 812 8e-8 BLAST
Blast:GuKc 883 1045 1e-19 BLAST
low complexity region 1057 1068 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000170584
AA Change: R747W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131003
Gene: ENSMUSG00000033170
AA Change: R747W

DomainStartEndE-ValueType
low complexity region 5 26 N/A INTRINSIC
Pfam:CARD 28 114 5.6e-23 PFAM
coiled coil region 139 449 N/A INTRINSIC
low complexity region 459 474 N/A INTRINSIC
low complexity region 558 565 N/A INTRINSIC
low complexity region 643 657 N/A INTRINSIC
PDB:3SHW|A 695 1006 1e-7 PDB
Blast:SH3 698 763 7e-8 BLAST
Blast:GuKc 834 996 1e-19 BLAST
low complexity region 1008 1019 N/A INTRINSIC
Meta Mutation Damage Score 0.2371 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency 98% (55/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The caspase recruitment domain (CARD) is a protein module that consists of 6 or 7 antiparallel alpha helices. It participates in apoptosis signaling through highly specific protein-protein homophilic interactions. Like several other CARD proteins, CARD10 belongs to the membrane-associated guanylate kinase (MAGUK) family and activates NF-kappa-B (NFKB; see MIM 164011) through BCL10 (MIM 603517) (Wang et al., 2001 [PubMed 11259443]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit partial penetrance of anencephaly and subsequent perinatal lethality of anencephalic embryos. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T C 11: 109,980,930 (GRCm39) Y36C probably damaging Het
Abcc4 T C 14: 118,867,034 (GRCm39) R228G probably damaging Het
Acap2 A T 16: 30,926,932 (GRCm39) S528T probably benign Het
Adamts6 T A 13: 104,450,787 (GRCm39) D323E possibly damaging Het
Ano8 G T 8: 71,931,385 (GRCm39) probably benign Het
Ano9 T G 7: 140,690,608 (GRCm39) Q48P probably benign Het
Atp13a1 T G 8: 70,257,942 (GRCm39) L899R probably benign Het
Csn1s1 T C 5: 87,828,820 (GRCm39) *295R probably null Het
Dhx9 A G 1: 153,344,672 (GRCm39) I505T probably damaging Het
Dnajc17 A T 2: 119,016,866 (GRCm39) S37T probably benign Het
Dot1l T A 10: 80,619,822 (GRCm39) probably null Het
Dph7 A G 2: 24,853,512 (GRCm39) N109S possibly damaging Het
Ednra C T 8: 78,446,931 (GRCm39) G49D probably benign Het
Fam83g T C 11: 61,592,554 (GRCm39) M259T probably damaging Het
Fer1l4 A T 2: 155,862,464 (GRCm39) D1736E probably damaging Het
Fetub T C 16: 22,754,429 (GRCm39) I212T probably damaging Het
Foxc2 C A 8: 121,844,439 (GRCm39) S362R probably benign Het
Gm8444 A G 15: 81,727,734 (GRCm39) probably benign Het
Gpank1 G A 17: 35,343,245 (GRCm39) E242K probably benign Het
Hps4 G A 5: 112,522,896 (GRCm39) probably benign Het
Hspg2 C T 4: 137,246,251 (GRCm39) R1010C probably damaging Het
Ighv1-20 A T 12: 114,687,819 (GRCm39) W3R probably damaging Het
Kcnq1 T C 7: 142,738,179 (GRCm39) I209T probably damaging Het
Me3 A T 7: 89,455,934 (GRCm39) E262V probably damaging Het
Mei1 G A 15: 82,009,064 (GRCm39) R1233Q possibly damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Mrgprx3-ps T C 7: 46,959,574 (GRCm39) noncoding transcript Het
Or4k37 A T 2: 111,159,160 (GRCm39) Y132F probably damaging Het
Or5p6 C A 7: 107,630,751 (GRCm39) K266N probably benign Het
Or8a1b A T 9: 37,623,364 (GRCm39) D70E probably damaging Het
Ostm1 T C 10: 42,574,230 (GRCm39) F153L probably damaging Het
Pkd1l3 C T 8: 110,350,751 (GRCm39) T532I possibly damaging Het
Prpf40a G A 2: 53,036,184 (GRCm39) H624Y probably damaging Het
Rtn2 T C 7: 19,021,249 (GRCm39) S210P probably benign Het
Siglec1 T C 2: 130,927,734 (GRCm39) Q24R probably benign Het
Smurf1 T C 5: 144,833,585 (GRCm39) probably benign Het
Ssr1 G A 13: 38,169,266 (GRCm39) L225F possibly damaging Het
Tlr6 A G 5: 65,110,981 (GRCm39) I642T probably benign Het
Tnpo1 GCACCTCTGCTTCCTC GCACCTCTGCTTCCTCACCTCTGCTTCCTC 13: 99,003,637 (GRCm39) probably null Het
Tnrc18 T C 5: 142,729,405 (GRCm39) K1674R unknown Het
Tns1 T A 1: 73,967,257 (GRCm39) Y1115F probably damaging Het
Trim56 T A 5: 137,142,541 (GRCm39) E325V probably damaging Het
Ttn T C 2: 76,606,318 (GRCm39) T18164A possibly damaging Het
Ugt2a3 A T 5: 87,475,548 (GRCm39) D361E probably damaging Het
Vmn2r125 T C 4: 156,702,382 (GRCm39) I56T probably benign Het
Xkr5 T A 8: 18,984,183 (GRCm39) H453L probably benign Het
Zcchc7 C T 4: 44,931,335 (GRCm39) H496Y possibly damaging Het
Zfp82 C T 7: 29,755,792 (GRCm39) R430H probably damaging Het
Zscan22 T C 7: 12,640,251 (GRCm39) V6A probably benign Het
Other mutations in Card10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02061:Card10 APN 15 78,662,415 (GRCm39) missense probably damaging 1.00
IGL02804:Card10 APN 15 78,686,649 (GRCm39) missense probably damaging 1.00
PIT4366001:Card10 UTSW 15 78,671,631 (GRCm39) missense probably benign 0.14
R0529:Card10 UTSW 15 78,664,675 (GRCm39) critical splice donor site probably null
R0571:Card10 UTSW 15 78,671,601 (GRCm39) missense possibly damaging 0.88
R1118:Card10 UTSW 15 78,686,643 (GRCm39) missense possibly damaging 0.90
R1444:Card10 UTSW 15 78,672,041 (GRCm39) splice site probably benign
R1632:Card10 UTSW 15 78,675,420 (GRCm39) nonsense probably null
R1669:Card10 UTSW 15 78,678,153 (GRCm39) missense probably benign 0.20
R1862:Card10 UTSW 15 78,664,714 (GRCm39) missense probably damaging 1.00
R1863:Card10 UTSW 15 78,664,714 (GRCm39) missense probably damaging 1.00
R1997:Card10 UTSW 15 78,678,175 (GRCm39) missense probably damaging 0.99
R2046:Card10 UTSW 15 78,671,673 (GRCm39) missense possibly damaging 0.91
R2084:Card10 UTSW 15 78,677,171 (GRCm39) missense possibly damaging 0.81
R2509:Card10 UTSW 15 78,664,473 (GRCm39) missense probably benign 0.00
R2511:Card10 UTSW 15 78,664,473 (GRCm39) missense probably benign 0.00
R4887:Card10 UTSW 15 78,665,724 (GRCm39) missense possibly damaging 0.66
R4970:Card10 UTSW 15 78,686,580 (GRCm39) critical splice donor site probably null
R5098:Card10 UTSW 15 78,660,917 (GRCm39) missense probably benign 0.37
R5112:Card10 UTSW 15 78,686,580 (GRCm39) critical splice donor site probably null
R5243:Card10 UTSW 15 78,664,872 (GRCm39) missense possibly damaging 0.70
R5256:Card10 UTSW 15 78,662,451 (GRCm39) missense probably damaging 0.98
R5985:Card10 UTSW 15 78,675,411 (GRCm39) missense probably benign 0.01
R6089:Card10 UTSW 15 78,686,614 (GRCm39) missense probably benign 0.02
R6357:Card10 UTSW 15 78,683,579 (GRCm39) missense probably damaging 1.00
R6545:Card10 UTSW 15 78,661,010 (GRCm39) missense probably damaging 1.00
R6865:Card10 UTSW 15 78,686,822 (GRCm39) missense possibly damaging 0.70
R6907:Card10 UTSW 15 78,671,671 (GRCm39) missense possibly damaging 0.82
R6920:Card10 UTSW 15 78,686,609 (GRCm39) nonsense probably null
R7913:Card10 UTSW 15 78,665,303 (GRCm39) missense possibly damaging 0.63
R8258:Card10 UTSW 15 78,660,884 (GRCm39) missense probably damaging 1.00
R8259:Card10 UTSW 15 78,660,884 (GRCm39) missense probably damaging 1.00
R9246:Card10 UTSW 15 78,673,036 (GRCm39) missense possibly damaging 0.95
R9661:Card10 UTSW 15 78,683,318 (GRCm39) missense probably damaging 1.00
Z1177:Card10 UTSW 15 78,679,528 (GRCm39) missense probably benign 0.28
Predicted Primers PCR Primer
(F):5'- AAGGTTGGGTCACACATGG -3'
(R):5'- AGCCTGTCATTCCTTCCATGAG -3'

Sequencing Primer
(F):5'- TGGTACAAGAAAAGCAAGCCTC -3'
(R):5'- TTCCATGAGGCCCTGGATG -3'
Posted On 2015-06-24