Incidental Mutation 'R0112:Csmd2'
ID 20495
Institutional Source Beutler Lab
Gene Symbol Csmd2
Ensembl Gene ENSMUSG00000028804
Gene Name CUB and Sushi multiple domains 2
Synonyms
MMRRC Submission 038398-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.150) question?
Stock # R0112 (G1)
Quality Score 224
Status Validated (trace)
Chromosome 4
Chromosomal Location 127987857-128567656 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 128496029 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glycine to Cysteine at position 2186 (G2186C)
Ref Sequence ENSEMBL: ENSMUSP00000138958 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000184063]
AlphaFold no structure available at present
Predicted Effect
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148247
Predicted Effect probably damaging
Transcript: ENSMUST00000184063
AA Change: G2186C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.9701 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 96.0%
  • 20x: 91.8%
Validation Efficiency 100% (86/86)
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930568D16Rik T A 2: 35,354,803 (GRCm38) Y179F probably benign Het
Abcd4 A G 12: 84,612,899 (GRCm38) probably benign Het
Abhd12b C T 12: 70,181,017 (GRCm38) T191M probably benign Het
Adcy5 A G 16: 35,156,178 (GRCm38) E27G possibly damaging Het
Adgb G A 10: 10,407,158 (GRCm38) probably benign Het
Afdn T C 17: 13,884,637 (GRCm38) S1186P probably damaging Het
Atf6b G T 17: 34,651,626 (GRCm38) R351L probably damaging Het
Axin2 T C 11: 108,939,397 (GRCm38) S348P possibly damaging Het
Bfsp1 A C 2: 143,827,643 (GRCm38) probably null Het
Brd1 A G 15: 88,730,383 (GRCm38) V103A probably benign Het
Ccdc13 C A 9: 121,813,481 (GRCm38) K392N probably damaging Het
Ccdc18 A G 5: 108,173,761 (GRCm38) K577R probably damaging Het
Cyp2j5 A T 4: 96,629,523 (GRCm38) M484K probably benign Het
Defb3 T A 8: 19,293,407 (GRCm38) L12Q probably null Het
Defb7 G T 8: 19,495,170 (GRCm38) probably null Het
Dhx35 T A 2: 158,840,620 (GRCm38) M491K probably damaging Het
Dnah17 T C 11: 118,074,434 (GRCm38) S2261G possibly damaging Het
Dnah5 A C 15: 28,263,679 (GRCm38) E853D probably benign Het
Dner C A 1: 84,583,053 (GRCm38) A23S probably benign Het
Dock5 A C 14: 67,819,641 (GRCm38) S539A probably benign Het
Dsg2 T A 18: 20,583,042 (GRCm38) F317I probably benign Het
Enox1 A T 14: 77,699,198 (GRCm38) I539F possibly damaging Het
Eogt G A 6: 97,135,284 (GRCm38) probably benign Het
Fbxo22 A G 9: 55,223,346 (GRCm38) T300A probably benign Het
Fes T C 7: 80,384,005 (GRCm38) D166G probably damaging Het
Fn1 A G 1: 71,609,653 (GRCm38) S1366P probably damaging Het
Fndc3a A T 14: 72,540,495 (GRCm38) probably benign Het
Foxh1 T C 15: 76,669,010 (GRCm38) H168R probably benign Het
Galnt14 T G 17: 73,574,984 (GRCm38) probably benign Het
Gdf6 A G 4: 9,844,482 (GRCm38) D2G probably damaging Het
Gp6 G C 7: 4,371,627 (GRCm38) P232A probably benign Het
Gp6 C A 7: 4,370,184 (GRCm38) A247S probably benign Het
Grin2c A G 11: 115,251,134 (GRCm38) Y820H probably damaging Het
Gtf2h4 T C 17: 35,670,448 (GRCm38) T198A possibly damaging Het
Helz T C 11: 107,672,948 (GRCm38) probably benign Het
Htr1d A G 4: 136,443,000 (GRCm38) E180G probably benign Het
Igsf10 A G 3: 59,326,008 (GRCm38) V1768A probably benign Het
Ints10 A T 8: 68,827,302 (GRCm38) T694S probably damaging Het
Krt81 C A 15: 101,463,627 (GRCm38) R24L possibly damaging Het
Lipc T A 9: 70,820,427 (GRCm38) Y131F probably damaging Het
Litaf G T 16: 10,966,511 (GRCm38) T45K probably damaging Het
Lmo7 A T 14: 101,887,193 (GRCm38) R363* probably null Het
Lrrc37a A T 11: 103,500,913 (GRCm38) Y1229N probably benign Het
Man2a2 C T 7: 80,358,276 (GRCm38) A943T probably damaging Het
Mtor A G 4: 148,480,923 (GRCm38) Y1030C probably damaging Het
Naalad2 G T 9: 18,351,447 (GRCm38) Y384* probably null Het
Nat2 C T 8: 67,501,726 (GRCm38) Q163* probably null Het
Nell2 A G 15: 95,431,681 (GRCm38) probably benign Het
Nphp3 C T 9: 104,037,348 (GRCm38) H102Y possibly damaging Het
Olr1 T C 6: 129,488,906 (GRCm38) S46G possibly damaging Het
Or2y13 A T 11: 49,524,134 (GRCm38) H137L possibly damaging Het
Or52x1 A T 7: 105,203,659 (GRCm38) M228K probably benign Het
Or5b94 C T 19: 12,674,757 (GRCm38) T184I probably benign Het
Parg C A 14: 32,202,433 (GRCm38) A63E probably damaging Het
Pik3cg A G 12: 32,195,715 (GRCm38) probably benign Het
Ripk4 A G 16: 97,743,561 (GRCm38) C629R probably benign Het
Rnf145 A G 11: 44,564,151 (GRCm38) T620A probably benign Het
Rskr T C 11: 78,291,681 (GRCm38) probably benign Het
Samd9l T G 6: 3,376,031 (GRCm38) D410A possibly damaging Het
Serpinb9f A T 13: 33,327,951 (GRCm38) probably benign Het
Slc19a1 T C 10: 77,042,165 (GRCm38) I178T probably benign Het
Slco1b2 A T 6: 141,671,111 (GRCm38) Y390F probably benign Het
Speg A G 1: 75,385,032 (GRCm38) E230G possibly damaging Het
Tbc1d9 C A 8: 83,264,837 (GRCm38) probably benign Het
Tmem131l G A 3: 83,940,587 (GRCm38) Q324* probably null Het
Trf A G 9: 103,226,956 (GRCm38) probably benign Het
Trp53 T G 11: 69,588,679 (GRCm38) Y202D probably damaging Het
Trpv1 T A 11: 73,253,272 (GRCm38) M618K probably damaging Het
Trrap C A 5: 144,822,761 (GRCm38) Y2250* probably null Het
Ttc3 A G 16: 94,385,322 (GRCm38) probably benign Het
Ubtfl1 T G 9: 18,409,787 (GRCm38) S204A probably benign Het
Uck2 A T 1: 167,227,771 (GRCm38) Y203N probably damaging Het
Utrn A T 10: 12,686,465 (GRCm38) L1280* probably null Het
Vmn1r178 A T 7: 23,894,184 (GRCm38) H146L possibly damaging Het
Vmn2r100 C A 17: 19,522,120 (GRCm38) P252Q possibly damaging Het
Vmn2r108 T C 17: 20,471,635 (GRCm38) M209V probably benign Het
Vmn2r9 G A 5: 108,843,125 (GRCm38) T790I probably damaging Het
Vmn2r94 C A 17: 18,243,604 (GRCm38) R808L probably benign Het
Zbtb7c A T 18: 76,136,891 (GRCm38) S17C probably damaging Het
Zfp811 C T 17: 32,797,764 (GRCm38) R434Q probably damaging Het
Zkscan6 A T 11: 65,814,863 (GRCm38) probably benign Het
Other mutations in Csmd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00519:Csmd2 APN 4 128,483,473 (GRCm38) missense probably benign 0.03
IGL01098:Csmd2 APN 4 128,059,052 (GRCm38) missense probably damaging 0.99
IGL01114:Csmd2 APN 4 128,369,130 (GRCm38) missense probably benign 0.04
IGL01364:Csmd2 APN 4 128,414,288 (GRCm38) missense probably benign 0.01
IGL01530:Csmd2 APN 4 128,414,301 (GRCm38) missense possibly damaging 0.66
IGL01582:Csmd2 APN 4 128,563,305 (GRCm38) nonsense probably null
IGL01670:Csmd2 APN 4 128,513,371 (GRCm38) splice site probably benign
IGL01707:Csmd2 APN 4 128,383,005 (GRCm38) missense possibly damaging 0.81
IGL01810:Csmd2 APN 4 128,480,845 (GRCm38) splice site probably benign
IGL01837:Csmd2 APN 4 128,419,570 (GRCm38) missense possibly damaging 0.92
IGL01924:Csmd2 APN 4 128,559,947 (GRCm38) missense unknown
IGL02013:Csmd2 APN 4 128,321,323 (GRCm38) missense possibly damaging 0.47
IGL02020:Csmd2 APN 4 128,559,879 (GRCm38) missense probably damaging 1.00
IGL02037:Csmd2 APN 4 128,477,470 (GRCm38) splice site probably benign
IGL02303:Csmd2 APN 4 128,369,008 (GRCm38) missense probably benign 0.01
IGL02317:Csmd2 APN 4 128,463,727 (GRCm38) splice site probably benign
IGL02322:Csmd2 APN 4 128,463,727 (GRCm38) splice site probably benign
IGL02338:Csmd2 APN 4 128,395,066 (GRCm38) missense possibly damaging 0.79
IGL02412:Csmd2 APN 4 128,513,372 (GRCm38) splice site probably benign
IGL02428:Csmd2 APN 4 128,474,816 (GRCm38) missense possibly damaging 0.82
IGL02491:Csmd2 APN 4 128,534,257 (GRCm38) missense probably benign
IGL02701:Csmd2 APN 4 128,496,141 (GRCm38) missense probably benign 0.17
IGL02801:Csmd2 APN 4 128,552,075 (GRCm38) splice site probably null
IGL02818:Csmd2 APN 4 128,209,728 (GRCm38) missense probably damaging 1.00
IGL02863:Csmd2 APN 4 128,521,884 (GRCm38) missense probably benign 0.00
IGL02876:Csmd2 APN 4 128,321,335 (GRCm38) nonsense probably null
IGL02977:Csmd2 APN 4 128,493,276 (GRCm38) nonsense probably null
IGL03006:Csmd2 APN 4 128,480,765 (GRCm38) splice site probably benign
IGL03032:Csmd2 APN 4 128,519,041 (GRCm38) missense probably benign 0.03
IGL03148:Csmd2 APN 4 128,384,269 (GRCm38) missense probably damaging 1.00
IGL03157:Csmd2 APN 4 128,414,299 (GRCm38) nonsense probably null
IGL03245:Csmd2 APN 4 128,509,122 (GRCm38) missense probably benign 0.12
IGL03376:Csmd2 APN 4 128,517,671 (GRCm38) missense probably benign 0.03
IGL03014:Csmd2 UTSW 4 128,296,429 (GRCm38) missense probably benign 0.01
R0109:Csmd2 UTSW 4 128,544,743 (GRCm38) missense probably benign 0.03
R0157:Csmd2 UTSW 4 128,521,911 (GRCm38) missense probably benign 0.02
R0390:Csmd2 UTSW 4 128,133,673 (GRCm38) intron probably benign
R0441:Csmd2 UTSW 4 128,520,230 (GRCm38) missense probably benign 0.00
R0519:Csmd2 UTSW 4 128,487,005 (GRCm38) missense possibly damaging 0.95
R0743:Csmd2 UTSW 4 128,113,676 (GRCm38) missense probably benign 0.00
R0746:Csmd2 UTSW 4 128,414,297 (GRCm38) missense probably damaging 1.00
R0973:Csmd2 UTSW 4 128,496,188 (GRCm38) missense possibly damaging 0.91
R1019:Csmd2 UTSW 4 128,522,014 (GRCm38) missense probably benign 0.00
R1476:Csmd2 UTSW 4 128,487,001 (GRCm38) missense probably benign 0.08
R1641:Csmd2 UTSW 4 128,483,395 (GRCm38) missense possibly damaging 0.68
R1709:Csmd2 UTSW 4 128,496,195 (GRCm38) missense probably damaging 0.96
R2866:Csmd2 UTSW 4 128,414,392 (GRCm38) critical splice donor site probably null
R2870:Csmd2 UTSW 4 128,557,718 (GRCm38) missense unknown
R2870:Csmd2 UTSW 4 128,557,718 (GRCm38) missense unknown
R2871:Csmd2 UTSW 4 128,557,718 (GRCm38) missense unknown
R2871:Csmd2 UTSW 4 128,557,718 (GRCm38) missense unknown
R2872:Csmd2 UTSW 4 128,557,718 (GRCm38) missense unknown
R2872:Csmd2 UTSW 4 128,557,718 (GRCm38) missense unknown
R2873:Csmd2 UTSW 4 128,557,718 (GRCm38) missense unknown
R2893:Csmd2 UTSW 4 128,538,993 (GRCm38) splice site probably null
R3796:Csmd2 UTSW 4 128,517,595 (GRCm38) missense probably benign 0.20
R3797:Csmd2 UTSW 4 128,517,595 (GRCm38) missense probably benign 0.20
R3798:Csmd2 UTSW 4 128,517,595 (GRCm38) missense probably benign 0.20
R3914:Csmd2 UTSW 4 128,321,324 (GRCm38) missense probably benign 0.07
R4198:Csmd2 UTSW 4 128,510,924 (GRCm38) missense probably benign 0.07
R4489:Csmd2 UTSW 4 128,381,945 (GRCm38) missense possibly damaging 0.68
R4571:Csmd2 UTSW 4 128,480,095 (GRCm38) splice site probably null
R4581:Csmd2 UTSW 4 128,369,088 (GRCm38) missense probably benign 0.02
R4599:Csmd2 UTSW 4 127,988,128 (GRCm38) missense probably benign 0.35
R4649:Csmd2 UTSW 4 128,546,073 (GRCm38) missense probably benign
R4706:Csmd2 UTSW 4 128,544,751 (GRCm38) missense probably benign
R4776:Csmd2 UTSW 4 128,442,892 (GRCm38) missense probably benign 0.09
R4838:Csmd2 UTSW 4 128,517,749 (GRCm38) missense probably benign
R4900:Csmd2 UTSW 4 128,452,525 (GRCm38) missense probably benign 0.03
R4999:Csmd2 UTSW 4 128,521,930 (GRCm38) missense probably benign 0.00
R5024:Csmd2 UTSW 4 128,321,348 (GRCm38) missense possibly damaging 0.94
R5034:Csmd2 UTSW 4 128,059,108 (GRCm38) missense probably damaging 0.98
R5152:Csmd2 UTSW 4 128,552,035 (GRCm38) missense probably benign 0.27
R5172:Csmd2 UTSW 4 128,477,397 (GRCm38) missense probably benign 0.10
R5231:Csmd2 UTSW 4 128,546,049 (GRCm38) missense probably benign 0.00
R5279:Csmd2 UTSW 4 128,456,914 (GRCm38) missense probably benign 0.30
R5287:Csmd2 UTSW 4 128,486,884 (GRCm38) missense probably benign 0.01
R5403:Csmd2 UTSW 4 128,486,884 (GRCm38) missense probably benign 0.01
R5410:Csmd2 UTSW 4 128,548,819 (GRCm38) missense probably benign
R5551:Csmd2 UTSW 4 128,510,948 (GRCm38) missense possibly damaging 0.83
R5566:Csmd2 UTSW 4 128,462,889 (GRCm38) critical splice donor site probably null
R5826:Csmd2 UTSW 4 128,519,199 (GRCm38) splice site probably null
R5907:Csmd2 UTSW 4 128,197,385 (GRCm38) missense probably damaging 0.99
R5913:Csmd2 UTSW 4 128,551,988 (GRCm38) missense probably benign 0.01
R5970:Csmd2 UTSW 4 128,546,151 (GRCm38) missense probably benign 0.00
R5977:Csmd2 UTSW 4 128,059,034 (GRCm38) missense probably damaging 1.00
R6027:Csmd2 UTSW 4 128,559,946 (GRCm38) missense unknown
R6075:Csmd2 UTSW 4 128,486,865 (GRCm38) missense probably benign 0.15
R6129:Csmd2 UTSW 4 128,493,334 (GRCm38) missense possibly damaging 0.79
R6363:Csmd2 UTSW 4 128,400,379 (GRCm38) missense probably benign 0.00
R6366:Csmd2 UTSW 4 128,483,452 (GRCm38) missense probably benign 0.00
R6404:Csmd2 UTSW 4 128,521,950 (GRCm38) missense possibly damaging 0.90
R6437:Csmd2 UTSW 4 127,988,100 (GRCm38) missense probably benign 0.24
R6441:Csmd2 UTSW 4 128,394,964 (GRCm38) missense probably benign 0.03
R6643:Csmd2 UTSW 4 128,372,597 (GRCm38) missense probably benign 0.14
R6724:Csmd2 UTSW 4 128,563,371 (GRCm38) missense probably damaging 0.97
R6734:Csmd2 UTSW 4 128,463,813 (GRCm38) missense probably benign 0.00
R6750:Csmd2 UTSW 4 128,197,225 (GRCm38) missense possibly damaging 0.91
R6801:Csmd2 UTSW 4 128,383,950 (GRCm38) missense probably benign 0.11
R6842:Csmd2 UTSW 4 128,509,159 (GRCm38) missense possibly damaging 0.72
R6843:Csmd2 UTSW 4 128,463,794 (GRCm38) missense probably benign 0.27
R6868:Csmd2 UTSW 4 128,442,840 (GRCm38) missense probably benign
R6882:Csmd2 UTSW 4 128,449,269 (GRCm38) missense probably benign 0.01
R7019:Csmd2 UTSW 4 128,369,063 (GRCm38) missense
R7028:Csmd2 UTSW 4 128,277,228 (GRCm38) missense
R7096:Csmd2 UTSW 4 128,462,726 (GRCm38) missense
R7122:Csmd2 UTSW 4 128,449,227 (GRCm38) missense
R7125:Csmd2 UTSW 4 128,496,162 (GRCm38) missense
R7197:Csmd2 UTSW 4 128,511,033 (GRCm38) missense
R7234:Csmd2 UTSW 4 128,456,779 (GRCm38) missense
R7299:Csmd2 UTSW 4 128,528,262 (GRCm38) missense
R7301:Csmd2 UTSW 4 128,528,262 (GRCm38) missense
R7319:Csmd2 UTSW 4 128,393,679 (GRCm38) missense
R7331:Csmd2 UTSW 4 128,564,228 (GRCm38) splice site probably null
R7332:Csmd2 UTSW 4 128,419,567 (GRCm38) missense
R7352:Csmd2 UTSW 4 128,557,636 (GRCm38) missense
R7402:Csmd2 UTSW 4 128,322,096 (GRCm38) missense
R7402:Csmd2 UTSW 4 128,322,095 (GRCm38) missense
R7474:Csmd2 UTSW 4 128,546,127 (GRCm38) missense
R7555:Csmd2 UTSW 4 128,452,458 (GRCm38) missense
R7592:Csmd2 UTSW 4 128,463,798 (GRCm38) missense
R7700:Csmd2 UTSW 4 128,545,756 (GRCm38) splice site probably null
R7714:Csmd2 UTSW 4 128,382,950 (GRCm38) nonsense probably null
R7734:Csmd2 UTSW 4 128,552,057 (GRCm38) missense
R7735:Csmd2 UTSW 4 128,456,930 (GRCm38) critical splice donor site probably null
R7757:Csmd2 UTSW 4 128,483,456 (GRCm38) missense
R7805:Csmd2 UTSW 4 128,419,573 (GRCm38) missense
R7823:Csmd2 UTSW 4 128,209,905 (GRCm38) missense
R7904:Csmd2 UTSW 4 128,419,553 (GRCm38) missense
R7946:Csmd2 UTSW 4 128,520,265 (GRCm38) missense
R7964:Csmd2 UTSW 4 128,523,510 (GRCm38) missense
R7968:Csmd2 UTSW 4 128,197,325 (GRCm38) missense
R8003:Csmd2 UTSW 4 128,539,187 (GRCm38) nonsense probably null
R8071:Csmd2 UTSW 4 128,393,538 (GRCm38) missense
R8504:Csmd2 UTSW 4 128,546,690 (GRCm38) missense
R8511:Csmd2 UTSW 4 128,368,899 (GRCm38) missense
R8517:Csmd2 UTSW 4 128,552,686 (GRCm38) missense
R8704:Csmd2 UTSW 4 128,197,354 (GRCm38) missense
R8722:Csmd2 UTSW 4 128,551,950 (GRCm38) unclassified probably benign
R8729:Csmd2 UTSW 4 128,462,845 (GRCm38) missense
R8801:Csmd2 UTSW 4 128,563,402 (GRCm38) missense probably damaging 0.97
R8803:Csmd2 UTSW 4 128,546,684 (GRCm38) missense
R8839:Csmd2 UTSW 4 128,442,888 (GRCm38) missense
R8867:Csmd2 UTSW 4 128,557,676 (GRCm38) missense
R8913:Csmd2 UTSW 4 128,523,558 (GRCm38) missense
R8928:Csmd2 UTSW 4 128,475,789 (GRCm38) missense
R8974:Csmd2 UTSW 4 128,552,587 (GRCm38) missense
R9001:Csmd2 UTSW 4 128,414,286 (GRCm38) missense
R9132:Csmd2 UTSW 4 128,549,214 (GRCm38) missense
R9245:Csmd2 UTSW 4 128,306,375 (GRCm38) missense
R9249:Csmd2 UTSW 4 128,419,530 (GRCm38) nonsense probably null
R9254:Csmd2 UTSW 4 128,197,319 (GRCm38) missense
R9265:Csmd2 UTSW 4 128,400,370 (GRCm38) missense
R9407:Csmd2 UTSW 4 128,548,820 (GRCm38) missense
R9432:Csmd2 UTSW 4 128,277,211 (GRCm38) missense
R9559:Csmd2 UTSW 4 128,544,768 (GRCm38) missense
R9673:Csmd2 UTSW 4 128,414,269 (GRCm38) missense
R9735:Csmd2 UTSW 4 128,509,108 (GRCm38) missense
R9749:Csmd2 UTSW 4 128,496,128 (GRCm38) missense
R9803:Csmd2 UTSW 4 128,369,193 (GRCm38) missense
Z1177:Csmd2 UTSW 4 128,530,797 (GRCm38) missense
Predicted Primers PCR Primer
(F):5'- GTGGAGTAAGCACAGAAGCTCCTG -3'
(R):5'- AGCACTGGCTCAACACATGATGAC -3'

Sequencing Primer
(F):5'- GCTCCTGAAGAGATGATTGATAGAC -3'
(R):5'- GCATCTGATCTTACCAGACAGTG -3'
Posted On 2013-04-11