Incidental Mutation 'PIT4366001:Card10'
ID 554792
Institutional Source Beutler Lab
Gene Symbol Card10
Ensembl Gene ENSMUSG00000033170
Gene Name caspase recruitment domain family, member 10
Synonyms Bimp1, CARMA3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # PIT4366001 (G1)
Quality Score 129.008
Status Not validated
Chromosome 15
Chromosomal Location 78659338-78687242 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 78671631 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 611 (S611L)
Ref Sequence ENSEMBL: ENSMUSP00000129513 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164826] [ENSMUST00000170584]
AlphaFold P58660
Predicted Effect probably benign
Transcript: ENSMUST00000164826
AA Change: S611L

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000129513
Gene: ENSMUSG00000033170
AA Change: S611L

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 benign
Transcript: ENSMUST00000170584
AA Change: S562L

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000131003
Gene: ENSMUSG00000033170
AA Change: S562L

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
Coding Region Coverage
  • 1x: 93.0%
  • 3x: 90.7%
  • 10x: 85.5%
  • 20x: 73.8%
Validation Efficiency
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk C A 11: 119,901,786 (GRCm39) S870I possibly damaging Het
Abca13 T C 11: 9,244,962 (GRCm39) V2275A probably benign Het
Abcb5 T C 12: 118,899,833 (GRCm39) K278R probably damaging Het
Adcy2 TA TAA 13: 68,858,109 (GRCm39) probably benign Het
Add3 C T 19: 53,205,298 (GRCm39) P16L unknown Het
Akap9 T A 5: 4,096,221 (GRCm39) D2365E probably benign Het
Asah1 A G 8: 41,796,783 (GRCm39) S300P possibly damaging Het
Astn1 A T 1: 158,424,779 (GRCm39) H655L probably benign Het
Astn1 A T 1: 158,424,781 (GRCm39) I656F probably benign Het
Bmpr1b T A 3: 141,586,224 (GRCm39) T13S probably benign Het
Camsap2 A G 1: 136,208,055 (GRCm39) F478L Het
Cep68 T C 11: 20,190,007 (GRCm39) N335S probably benign Het
Chac1 T C 2: 119,181,986 (GRCm39) W35R probably damaging Het
Cntn6 T C 6: 104,809,498 (GRCm39) V511A probably benign Het
Cpne9 G T 6: 113,271,707 (GRCm39) G356W probably damaging Het
Dnah10 C A 5: 124,852,588 (GRCm39) T1939K possibly damaging Het
Dock10 T C 1: 80,573,438 (GRCm39) N239D probably benign Het
Dock5 T C 14: 68,062,123 (GRCm39) K415R possibly damaging Het
Dtd2 C A 12: 52,046,582 (GRCm39) D86Y probably damaging Het
Efcab9 A G 11: 32,473,608 (GRCm39) F127S probably damaging Het
Ermp1 T C 19: 29,606,189 (GRCm39) H375R probably benign Het
Frem2 A T 3: 53,560,622 (GRCm39) M1295K probably damaging Het
Gbp7 T G 3: 142,248,712 (GRCm39) I325R probably benign Het
Gpr179 T C 11: 97,227,677 (GRCm39) K1493E probably benign Het
Gucy2g T A 19: 55,226,214 (GRCm39) E234V probably null Het
Itpr1 T A 6: 108,470,718 (GRCm39) C2215* probably null Het
Ltn1 G A 16: 87,177,728 (GRCm39) R1634* probably null Het
Lynx1 A T 15: 74,623,258 (GRCm39) M58K possibly damaging Het
Macc1 T C 12: 119,410,684 (GRCm39) V484A probably benign Het
Map3k9 C T 12: 81,819,535 (GRCm39) V240M possibly damaging Het
Mars1 A G 10: 127,135,267 (GRCm39) M608T possibly damaging Het
Mc2r T C 18: 68,540,826 (GRCm39) M156V probably benign Het
Mchr1 G T 15: 81,121,417 (GRCm39) V56L probably benign Het
Mlxip C T 5: 123,533,173 (GRCm39) P61S probably benign Het
Mtarc1 A G 1: 184,539,383 (GRCm39) F96S probably benign Het
Muc4 A G 16: 32,575,542 (GRCm39) T1557A unknown Het
Myt1 T C 2: 181,467,731 (GRCm39) V1135A probably damaging Het
Ndufaf6 A T 4: 11,073,215 (GRCm39) S76T probably benign Het
Ntrk2 A G 13: 59,208,149 (GRCm39) Y665C probably damaging Het
Oaz3 T G 3: 94,340,901 (GRCm39) R215S unknown Het
Or10x1 T C 1: 174,196,656 (GRCm39) Y58H probably damaging Het
Or5m10b T C 2: 85,699,226 (GRCm39) C97R probably damaging Het
Or5m8 A T 2: 85,822,385 (GRCm39) N75Y probably damaging Het
Or5w1b C T 2: 87,475,534 (GRCm39) W311* probably null Het
Perm1 G T 4: 156,303,192 (GRCm39) V579L probably benign Het
Phyhipl A G 10: 70,404,788 (GRCm39) V140A probably benign Het
Pip5k1c T A 10: 81,144,842 (GRCm39) S228T probably damaging Het
Plekhn1 T G 4: 156,309,268 (GRCm39) T213P probably damaging Het
Pomt2 A T 12: 87,163,303 (GRCm39) probably null Het
Ptcd1 A G 5: 145,088,145 (GRCm39) V622A probably benign Het
Ptn T A 6: 36,718,284 (GRCm39) H127L probably benign Het
Ptprk A T 10: 28,462,015 (GRCm39) M1193L probably benign Het
Ptpru G A 4: 131,527,023 (GRCm39) P650S probably benign Het
Pum2 T A 12: 8,783,390 (GRCm39) L613Q probably damaging Het
Rapgef6 A G 11: 54,582,446 (GRCm39) T1458A probably damaging Het
Sap130 C T 18: 31,810,462 (GRCm39) A470V probably benign Het
Sertad2 C A 11: 20,598,116 (GRCm39) P104Q probably benign Het
Sfrp4 A T 13: 19,814,414 (GRCm39) M324L unknown Het
Sh3bp4 A G 1: 89,073,156 (GRCm39) N668S probably benign Het
Snx30 C A 4: 59,894,653 (GRCm39) D410E probably benign Het
Spata31 C A 13: 65,069,319 (GRCm39) S489* probably null Het
Taok3 T A 5: 117,366,050 (GRCm39) M367K probably benign Het
Tfap2a T C 13: 40,874,850 (GRCm39) N254D possibly damaging Het
Tgtp1 T G 11: 48,877,867 (GRCm39) L279F possibly damaging Het
Tmpo A G 10: 90,999,172 (GRCm39) F205S probably damaging Het
Tmprss5 A T 9: 49,023,517 (GRCm39) I218L probably benign Het
Tti2 A G 8: 31,641,224 (GRCm39) E116G probably benign Het
Vmn2r59 A T 7: 41,695,205 (GRCm39) N402K possibly damaging 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
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
R4274:Card10 UTSW 15 78,664,714 (GRCm39) missense probably damaging 1.00
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'- TACTGTTCATGGAAGCCTGG -3'
(R):5'- GGGTCCAGCTTTTACACCTG -3'

Sequencing Primer
(F):5'- TGGAGCAGAGCCATGGC -3'
(R):5'- TCTAGGAAACTGGAGCCTCAC -3'
Posted On 2019-06-07