Incidental Mutation 'R1476:Csmd2'
ID 164050
Institutional Source Beutler Lab
Gene Symbol Csmd2
Ensembl Gene ENSMUSG00000028804
Gene Name CUB and Sushi multiple domains 2
Synonyms
MMRRC Submission 039529-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.150) question?
Stock # R1476 (G1)
Quality Score 222
Status Validated
Chromosome 4
Chromosomal Location 127987857-128567656 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 128487001 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 2117 (E2117K)
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 benign
Transcript: ENSMUST00000184063
AA Change: E2117K

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
Meta Mutation Damage Score 0.1280 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.1%
Validation Efficiency 95% (80/84)
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310033P09Rik A G 11: 59,208,702 (GRCm38) probably benign Het
4932431P20Rik A G 7: 29,534,890 (GRCm38) noncoding transcript Het
A730015C16Rik G A 4: 108,848,008 (GRCm38) V40M probably damaging Het
Abcg2 A G 6: 58,678,337 (GRCm38) D419G probably benign Het
Adamts17 A C 7: 67,075,343 (GRCm38) E777A probably damaging Het
Ak1 A G 2: 32,633,466 (GRCm38) K166R probably benign Het
Ankrd12 T C 17: 65,986,305 (GRCm38) K711R probably damaging Het
Ate1 A T 7: 130,418,571 (GRCm38) probably null Het
Atp5a1 A G 18: 77,781,925 (GRCm38) H519R probably benign Het
Best1 G T 19: 9,990,489 (GRCm38) Y284* probably null Het
C2cd6 A G 1: 59,076,728 (GRCm38) probably benign Het
Casz1 G T 4: 148,946,171 (GRCm38) V1216L probably benign Het
Cdc42bpg A G 19: 6,313,782 (GRCm38) D493G probably damaging Het
Ces2f A G 8: 104,952,502 (GRCm38) D317G possibly damaging Het
Chst15 A T 7: 132,270,273 (GRCm38) M93K possibly damaging Het
Cntnap5a T C 1: 115,901,020 (GRCm38) L58P probably damaging Het
Crip3 T C 17: 46,430,776 (GRCm38) probably benign Het
Cstf3 A G 2: 104,648,219 (GRCm38) D212G possibly damaging Het
Cttnbp2 T C 6: 18,434,221 (GRCm38) K546R probably damaging Het
Cubn A G 2: 13,476,120 (GRCm38) I308T probably benign Het
Cxcl9 T A 5: 92,325,113 (GRCm38) D75V probably damaging Het
Dcdc5 C T 2: 106,358,632 (GRCm38) noncoding transcript Het
Defa30 C A 8: 21,134,736 (GRCm38) T25K possibly damaging Het
Dock7 A T 4: 99,079,435 (GRCm38) H239Q possibly damaging Het
Dpp4 A G 2: 62,347,901 (GRCm38) V629A possibly damaging Het
Fam83a T C 15: 58,009,945 (GRCm38) M390T probably benign Het
Fem1c A G 18: 46,524,485 (GRCm38) L54P probably damaging Het
Fntb T A 12: 76,910,233 (GRCm38) M282K probably benign Het
Gm11099 G A 2: 58,859,470 (GRCm38) probably benign Het
Gm1527 T C 3: 28,926,556 (GRCm38) S602P probably benign Het
Gm20388 A G 8: 122,269,584 (GRCm38) probably benign Het
Gm5478 T A 15: 101,644,645 (GRCm38) I331F probably damaging Het
Gm7853 C A 14: 36,089,583 (GRCm38) noncoding transcript Het
Gsta2 A T 9: 78,341,865 (GRCm38) C18S probably benign Het
H1foo T C 6: 115,947,740 (GRCm38) V69A possibly damaging Het
Hecw1 T C 13: 14,306,086 (GRCm38) E465G probably damaging Het
Herc1 A G 9: 66,508,266 (GRCm38) D4841G probably damaging Het
Hus1b A G 13: 30,947,001 (GRCm38) V225A probably benign Het
Keg1 A T 19: 12,716,023 (GRCm38) M137L probably benign Het
Kmt2a C T 9: 44,824,635 (GRCm38) probably benign Het
Megf6 G T 4: 154,177,121 (GRCm38) V68L probably benign Het
Mga T A 2: 119,941,675 (GRCm38) V1672E probably damaging Het
Mios T C 6: 8,234,237 (GRCm38) S803P probably benign Het
Mkl1 T C 15: 81,018,208 (GRCm38) probably benign Het
Msh4 A T 3: 153,863,384 (GRCm38) Y851N probably damaging Het
Mybl1 A C 1: 9,672,661 (GRCm38) probably null Het
Myo5c A G 9: 75,275,939 (GRCm38) Y865C probably damaging Het
Naip1 T C 13: 100,426,870 (GRCm38) S596G probably benign Het
Nek5 G T 8: 22,096,731 (GRCm38) Q355K possibly damaging Het
Nphp3 G T 9: 104,025,927 (GRCm38) R701L possibly damaging Het
Olfr1006 T A 2: 85,674,918 (GRCm38) T78S possibly damaging Het
Olfr1023 T A 2: 85,887,248 (GRCm38) Y149* probably null Het
Olfr1052 T C 2: 86,298,479 (GRCm38) I221T probably damaging Het
Olfr1094 T C 2: 86,829,198 (GRCm38) S149P probably benign Het
Olfr666 A T 7: 104,893,237 (GRCm38) Y130* probably null Het
Palm A G 10: 79,815,187 (GRCm38) N149D possibly damaging Het
Pot1b T C 17: 55,653,451 (GRCm38) I626M possibly damaging Het
Ptprt T A 2: 161,927,484 (GRCm38) D487V probably damaging Het
Qpct A G 17: 79,070,772 (GRCm38) I124V probably benign Het
Rbm12b1 T A 4: 12,145,817 (GRCm38) D596E possibly damaging Het
Rnf157 A G 11: 116,354,759 (GRCm38) C277R probably damaging Het
Rnf169 A G 7: 99,925,328 (GRCm38) S687P possibly damaging Het
Sfxn1 T A 13: 54,092,450 (GRCm38) probably null Het
Slc6a21 T C 7: 45,272,628 (GRCm38) V649A probably benign Het
Slit3 A T 11: 35,686,299 (GRCm38) T1120S probably damaging Het
Spem2 A T 11: 69,818,070 (GRCm38) M58K probably benign Het
Sprr2k T A 3: 92,433,396 (GRCm38) probably benign Het
Sspo T C 6: 48,463,400 (GRCm38) probably null Het
Sv2b A T 7: 75,120,043 (GRCm38) F584I possibly damaging Het
Tkfc A T 19: 10,595,326 (GRCm38) M317K probably null Het
Tnni3k C T 3: 155,030,305 (GRCm38) G134S probably benign Het
Ttn C T 2: 76,739,780 (GRCm38) R26923H probably damaging Het
Tuba3b T C 6: 145,618,453 (GRCm38) V75A possibly damaging Het
Unc79 T C 12: 103,183,525 (GRCm38) L2626P probably damaging Het
Usp24 A T 4: 106,361,933 (GRCm38) I491F probably damaging Het
V1ra8 A T 6: 90,203,150 (GRCm38) I112F probably damaging Het
Vmn1r29 T G 6: 58,307,678 (GRCm38) F128V probably benign Het
Zfp157 T A 5: 138,455,095 (GRCm38) probably null 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
R0112:Csmd2 UTSW 4 128,496,029 (GRCm38) missense probably damaging 1.00
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
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'- TTGAACTTCTCCACGGAGCCCAAC -3'
(R):5'- GGCACAAACTGGGCATACCTTAGC -3'

Sequencing Primer
(F):5'- ACCACGACTTCTTAGAAATCCG -3'
(R):5'- ATACCTTAGCTGTCTGTCAAACTGG -3'
Posted On 2014-03-28