Incidental Mutation 'R7555:Csmd2'
ID 584676
Institutional Source Beutler Lab
Gene Symbol Csmd2
Ensembl Gene ENSMUSG00000028804
Gene Name CUB and Sushi multiple domains 2
Synonyms
MMRRC Submission 045623-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.150) question?
Stock # R7555 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 127987857-128567656 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 128452458 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 1504 (P1504S)
Ref Sequence ENSEMBL: ENSMUSP00000138958 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000184063]
AlphaFold no structure available at present
Predicted Effect
Meta Mutation Damage Score 0.8035 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (83/83)
Allele List at MGI
Other mutations in this stock
Total: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430007A20Rik T A 4: 144,522,354 (GRCm38) I97N probably damaging Het
Acvrl1 A G 15: 101,143,473 (GRCm38) H502R probably benign Het
Adgrf4 T C 17: 42,672,603 (GRCm38) S63G probably benign Het
Agbl2 C A 2: 90,791,555 (GRCm38) L129I probably damaging Het
Ankrd11 C A 8: 122,887,406 (GRCm38) A2542S probably damaging Het
Armc9 A G 1: 86,275,678 (GRCm38) K818R probably damaging Het
Arsj T A 3: 126,438,236 (GRCm38) C210* probably null Het
Aspscr1 C T 11: 120,673,100 (GRCm38) A11V unknown Het
Bicc1 G T 10: 70,956,291 (GRCm38) Q296K possibly damaging Het
Borcs5 A C 6: 134,685,979 (GRCm38) Q73P probably benign Het
Capn15 G T 17: 25,963,432 (GRCm38) D567E probably damaging Het
Catsperg1 A C 7: 29,189,814 (GRCm38) I866S probably damaging Het
Ccdc27 G T 4: 154,041,817 (GRCm38) H72N unknown Het
Ccser2 A T 14: 36,879,500 (GRCm38) M309K possibly damaging Het
Cd1d2 A G 3: 86,987,101 (GRCm38) S59G probably benign Het
Chml G A 1: 175,687,890 (GRCm38) P155L probably benign Het
Dcbld2 A G 16: 58,448,718 (GRCm38) probably null Het
Ddx21 C T 10: 62,598,243 (GRCm38) E246K probably benign Het
Dhx29 C T 13: 112,927,642 (GRCm38) probably benign Het
Dis3l A C 9: 64,311,937 (GRCm38) Y570* probably null Het
Dnah14 T A 1: 181,770,054 (GRCm38) Y3623N probably benign Het
Dock8 A G 19: 25,175,400 (GRCm38) D1610G probably damaging Het
Dync1h1 T C 12: 110,630,625 (GRCm38) S1669P probably benign Het
Eif2ak4 T A 2: 118,417,283 (GRCm38) I267N possibly damaging Het
Ern2 A T 7: 122,170,241 (GRCm38) V854E probably damaging Het
Fuca2 G A 10: 13,507,430 (GRCm38) probably null Het
Gbp10 G A 5: 105,236,149 (GRCm38) probably benign Het
Gm1110 T A 9: 26,893,628 (GRCm38) T380S probably benign Het
Gm13128 T C 4: 144,332,741 (GRCm38) F341L probably benign Het
Gm5788 A C 12: 87,494,735 (GRCm38) K5N unknown Het
Gm6460 A T 5: 11,597,612 (GRCm38) N106Y probably damaging Het
Golga2 G A 2: 32,288,166 (GRCm38) R29H probably benign Het
Grik5 T C 7: 25,060,597 (GRCm38) E259G probably benign Het
Grm3 T C 5: 9,570,000 (GRCm38) T415A probably benign Het
Gtf3c1 A G 7: 125,645,670 (GRCm38) Y1731H probably damaging Het
Hectd2 T C 19: 36,612,403 (GRCm38) C643R probably damaging Het
Hgfac T C 5: 35,042,628 (GRCm38) S118P probably damaging Het
Hmcn1 A G 1: 150,604,874 (GRCm38) V4517A probably benign Het
Hnrnpc A T 14: 52,075,153 (GRCm38) L290* probably null Het
Homer3 A G 8: 70,289,413 (GRCm38) E108G probably damaging Het
Hsd17b3 G T 13: 64,072,002 (GRCm38) S141R probably benign Het
Hspa12b C T 2: 131,138,476 (GRCm38) T105I probably damaging Het
Ifi202b T C 1: 173,972,221 (GRCm38) I231M probably damaging Het
Inhba T A 13: 16,017,637 (GRCm38) N114K probably benign Het
Kmt2b C A 7: 30,569,410 (GRCm38) M2631I possibly damaging Het
Loxhd1 C T 18: 77,395,365 (GRCm38) T1214I probably damaging Het
Lrp1 G T 10: 127,546,862 (GRCm38) N3683K probably damaging Het
Lrrc8e A G 8: 4,234,363 (GRCm38) K196R probably benign Het
Lrrn3 A T 12: 41,452,911 (GRCm38) M469K probably benign Het
Mafb T C 2: 160,365,829 (GRCm38) E283G probably damaging Het
Mapt C A 11: 104,298,702 (GRCm38) P182Q probably benign Het
Mmp14 G T 14: 54,437,742 (GRCm38) R277L possibly damaging Het
Mucl2 T A 15: 103,897,445 (GRCm38) N82I probably benign Het
Nsun6 T A 2: 14,996,339 (GRCm38) T469S possibly damaging Het
Olfr1076 A C 2: 86,509,347 (GRCm38) D296A probably damaging Het
Olfr1342 T C 4: 118,689,642 (GRCm38) D270G possibly damaging Het
Olfr507 G C 7: 108,622,726 (GRCm38) A305P probably damaging Het
Osbpl5 A T 7: 143,694,933 (GRCm38) F631I possibly damaging Het
Otud3 G T 4: 138,901,885 (GRCm38) D190E possibly damaging Het
Pcdhb6 A T 18: 37,335,279 (GRCm38) I418F possibly damaging Het
Per1 G A 11: 69,106,513 (GRCm38) R838H probably damaging Het
Per2 G A 1: 91,435,135 (GRCm38) P395S probably damaging Het
Per3 G A 4: 151,018,058 (GRCm38) Q583* probably null Het
Pkhd1l1 A T 15: 44,550,761 (GRCm38) H2808L possibly damaging Het
Ppfia2 A G 10: 106,927,826 (GRCm38) T1227A probably benign Het
Psg17 C T 7: 18,817,094 (GRCm38) D279N probably benign Het
Rnf167 A G 11: 70,650,797 (GRCm38) D235G probably benign Het
Rxfp3 A G 15: 11,036,276 (GRCm38) S337P probably damaging Het
Sall1 T C 8: 89,033,158 (GRCm38) D106G possibly damaging Het
Sema4f A G 6: 82,914,056 (GRCm38) V590A probably benign Het
Setd1b A G 5: 123,157,757 (GRCm38) D1102G unknown Het
Six2 C A 17: 85,687,707 (GRCm38) K82N probably damaging Het
Snx29 T C 16: 11,400,942 (GRCm38) M214T probably benign Het
Son T C 16: 91,658,922 (GRCm38) L1519P probably damaging Het
Spin1 C T 13: 51,149,049 (GRCm38) S226L probably benign Het
Stxbp5l T C 16: 37,323,603 (GRCm38) D131G probably damaging Het
Svep1 T C 4: 58,069,422 (GRCm38) Y2788C probably damaging Het
Tbl3 C A 17: 24,701,976 (GRCm38) probably null Het
Themis A T 10: 28,781,702 (GRCm38) I242L possibly damaging Het
Tmem203 G A 2: 25,255,730 (GRCm38) V21M probably benign Het
Trp53inp1 T C 4: 11,169,750 (GRCm38) C171R probably benign Het
Tsg101 A G 7: 46,913,411 (GRCm38) Y32H probably damaging Het
Tyw1 A G 5: 130,274,706 (GRCm38) D305G probably damaging Het
Vmn1r40 A T 6: 89,715,044 (GRCm38) Y281F probably damaging Het
Vmn2r105 T A 17: 20,227,675 (GRCm38) T296S probably damaging Het
Vmn2r13 T C 5: 109,171,691 (GRCm38) probably null Het
Zfp933 A G 4: 147,826,132 (GRCm38) F336L probably damaging 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
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
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'- TGACCATGAGACCTCTCCAC -3'
(R):5'- ACCCTTGGACCTGAGAACTC -3'

Sequencing Primer
(F):5'- TCTTCAGCATCATGCCAGATGAGG -3'
(R):5'- TTGGACCTGAGAACTCTGCCAC -3'
Posted On 2019-10-17