Incidental Mutation 'R7700:Csmd2'
ID 628416
Institutional Source Beutler Lab
Gene Symbol Csmd2
Ensembl Gene ENSMUSG00000028804
Gene Name CUB and Sushi multiple domains 2
Synonyms
MMRRC Submission 045761-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R7700 (G1)
Quality Score 57.0073
Status Validated
Chromosome 4
Chromosomal Location 127881650-128461449 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 128439549 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000138958 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000184063]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000184063
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (85/85)
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009A15Rik T C 19: 8,867,417 (GRCm39) L72P probably benign Het
4930407I10Rik C A 15: 81,948,306 (GRCm39) H734Q probably benign Het
Acadl A G 1: 66,877,522 (GRCm39) V343A possibly damaging Het
Acot4 A T 12: 84,090,011 (GRCm39) D236V probably damaging Het
App T A 16: 84,837,197 (GRCm39) probably null Het
Arfgef1 G A 1: 10,264,636 (GRCm39) T470I possibly damaging Het
Arhgef5 T C 6: 43,251,691 (GRCm39) I814T probably benign Het
Atr A T 9: 95,757,743 (GRCm39) R968* probably null Het
Bltp1 T A 3: 37,028,321 (GRCm39) N2329K possibly damaging Het
Bltp1 C T 3: 37,080,303 (GRCm39) S267L probably benign Het
Capn7 C T 14: 31,074,401 (GRCm39) T268I probably benign Het
Ccdc192 A G 18: 57,696,388 (GRCm39) probably null Het
Ccn1 C T 3: 145,354,447 (GRCm39) G155R probably damaging Het
Cubn A T 2: 13,352,989 (GRCm39) F1916L probably benign Het
Cubn A G 2: 13,494,728 (GRCm39) V107A possibly damaging Het
Cyp11b1 T A 15: 74,707,691 (GRCm39) T473S probably damaging Het
Dip2c T G 13: 9,709,347 (GRCm39) S1396A probably benign Het
Dop1b T G 16: 93,595,649 (GRCm39) probably null Het
Dyrk1b T C 7: 27,883,737 (GRCm39) Y198H probably damaging Het
Echdc2 G T 4: 108,031,274 (GRCm39) R206L probably benign Het
Ep400 C T 5: 110,843,898 (GRCm39) R1594Q unknown Het
Esyt1 T A 10: 128,351,723 (GRCm39) probably benign Het
Fmnl2 G A 2: 52,926,520 (GRCm39) R69Q Het
Fry T A 5: 150,328,792 (GRCm39) H1308Q probably damaging Het
Fyb2 T A 4: 104,867,651 (GRCm39) D667E probably benign Het
Gimap7 T A 6: 48,700,791 (GRCm39) Y126N possibly damaging Het
Gm1979 A T 5: 26,205,178 (GRCm39) W266R probably damaging Het
Gm28042 T A 2: 119,870,197 (GRCm39) M712K possibly damaging Het
Gm3238 A G 10: 77,606,469 (GRCm39) *231R probably null Het
Gm5592 C A 7: 40,935,831 (GRCm39) A111E probably damaging Het
Gm7694 A G 1: 170,128,717 (GRCm39) *271Q probably null Het
Gm9195 A C 14: 72,693,342 (GRCm39) probably null Het
Ift81 T C 5: 122,732,623 (GRCm39) M304V possibly damaging Het
Igfals T C 17: 25,099,548 (GRCm39) L213P probably damaging Het
Ints3 G A 3: 90,329,111 (GRCm39) P83S probably benign Het
Kcna10 T G 3: 107,102,856 (GRCm39) S496A probably damaging Het
Kmt2d G A 15: 98,741,600 (GRCm39) A4520V unknown Het
Lemd3 A T 10: 120,813,995 (GRCm39) Y413N probably damaging Het
Lgr6 T C 1: 134,923,770 (GRCm39) N453S probably damaging Het
Lmtk3 A C 7: 45,441,998 (GRCm39) D352A probably damaging Het
Lrrc4c T C 2: 97,461,024 (GRCm39) M550T possibly damaging Het
Maml2 A T 9: 13,532,385 (GRCm39) Q533L Het
Mdn1 T A 4: 32,741,344 (GRCm39) D3815E probably damaging Het
Megf8 C T 7: 25,029,353 (GRCm39) A299V possibly damaging Het
Meis3 G T 7: 15,911,481 (GRCm39) E59D probably benign Het
Mppe1 A G 18: 67,358,775 (GRCm39) *398R probably null Het
Mtmr7 G A 8: 41,059,927 (GRCm39) A62V possibly damaging Het
Mtus1 T A 8: 41,537,006 (GRCm39) T237S possibly damaging Het
Ndfip2 T A 14: 105,525,193 (GRCm39) V158E possibly damaging Het
Nrbp2 T G 15: 75,962,746 (GRCm39) T53P probably damaging Het
Nrde2 G A 12: 100,097,094 (GRCm39) P902L probably benign Het
Or10ab5 T A 7: 108,244,879 (GRCm39) K301N probably damaging Het
Or11g24 T A 14: 50,662,792 (GRCm39) M272K probably benign Het
Or2y13 A G 11: 49,415,381 (GRCm39) Y277C probably damaging Het
Or6c202 T C 10: 128,995,924 (GRCm39) M310V probably benign Het
Pcdha1 A G 18: 37,064,115 (GRCm39) T260A probably damaging Het
Pdlim1 T G 19: 40,238,102 (GRCm39) K98N probably damaging Het
Pdxk A T 10: 78,279,764 (GRCm39) probably null Het
Phrf1 G A 7: 140,834,842 (GRCm39) G207R unknown Het
Pik3r6 A G 11: 68,419,389 (GRCm39) K124R probably damaging Het
Polr2b T A 5: 77,488,268 (GRCm39) F823I probably benign Het
Prss58 T C 6: 40,872,322 (GRCm39) I234V probably damaging Het
Ptpn14 A T 1: 189,597,608 (GRCm39) N766I probably benign Het
Qrfprl T A 6: 65,429,940 (GRCm39) I212N probably benign Het
Repin1 T A 6: 48,574,756 (GRCm39) S562T probably damaging Het
Rgr C T 14: 36,766,552 (GRCm39) D165N probably damaging Het
Rho T C 6: 115,912,200 (GRCm39) F221L probably damaging Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Rnase2a A G 14: 51,493,248 (GRCm39) I39T probably damaging Het
Rpl13a T G 7: 44,776,660 (GRCm39) I43L probably benign Het
Rpp30 T C 19: 36,066,558 (GRCm39) V97A probably benign Het
Scube3 T C 17: 28,386,023 (GRCm39) Y755H probably damaging Het
Sec24a A T 11: 51,603,084 (GRCm39) V788E probably damaging Het
Spns2 A T 11: 72,380,443 (GRCm39) L60* probably null Het
Strc T C 2: 121,202,229 (GRCm39) N1213S possibly damaging Het
Tec A T 5: 72,943,367 (GRCm39) I116N possibly damaging Het
Tll1 A T 8: 64,546,988 (GRCm39) D319E probably benign Het
Tmem121b T C 6: 120,470,388 (GRCm39) T110A unknown Het
Tmem232 T A 17: 65,572,213 (GRCm39) I593F probably damaging Het
Tpp2 A G 1: 44,009,626 (GRCm39) I487V probably benign Het
Ubr4 C A 4: 139,136,178 (GRCm39) C934* probably null Het
Vmn1r68 A G 7: 10,261,559 (GRCm39) Y180H probably benign Het
Vmn2r25 T C 6: 123,816,882 (GRCm39) D233G possibly damaging Het
Wdr6 A G 9: 108,453,560 (GRCm39) W108R possibly damaging Het
Zng1 A G 19: 24,920,045 (GRCm39) probably null Het
Other mutations in Csmd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00519:Csmd2 APN 4 128,377,266 (GRCm39) missense probably benign 0.03
IGL01098:Csmd2 APN 4 127,952,845 (GRCm39) missense probably damaging 0.99
IGL01114:Csmd2 APN 4 128,262,923 (GRCm39) missense probably benign 0.04
IGL01364:Csmd2 APN 4 128,308,081 (GRCm39) missense probably benign 0.01
IGL01530:Csmd2 APN 4 128,308,094 (GRCm39) missense possibly damaging 0.66
IGL01582:Csmd2 APN 4 128,457,098 (GRCm39) nonsense probably null
IGL01670:Csmd2 APN 4 128,407,164 (GRCm39) splice site probably benign
IGL01707:Csmd2 APN 4 128,276,798 (GRCm39) missense possibly damaging 0.81
IGL01810:Csmd2 APN 4 128,374,638 (GRCm39) splice site probably benign
IGL01837:Csmd2 APN 4 128,313,363 (GRCm39) missense possibly damaging 0.92
IGL01924:Csmd2 APN 4 128,453,740 (GRCm39) missense unknown
IGL02013:Csmd2 APN 4 128,215,116 (GRCm39) missense possibly damaging 0.47
IGL02020:Csmd2 APN 4 128,453,672 (GRCm39) missense probably damaging 1.00
IGL02037:Csmd2 APN 4 128,371,263 (GRCm39) splice site probably benign
IGL02303:Csmd2 APN 4 128,262,801 (GRCm39) missense probably benign 0.01
IGL02317:Csmd2 APN 4 128,357,520 (GRCm39) splice site probably benign
IGL02322:Csmd2 APN 4 128,357,520 (GRCm39) splice site probably benign
IGL02338:Csmd2 APN 4 128,288,859 (GRCm39) missense possibly damaging 0.79
IGL02412:Csmd2 APN 4 128,407,165 (GRCm39) splice site probably benign
IGL02428:Csmd2 APN 4 128,368,609 (GRCm39) missense possibly damaging 0.82
IGL02491:Csmd2 APN 4 128,428,050 (GRCm39) missense probably benign
IGL02701:Csmd2 APN 4 128,389,934 (GRCm39) missense probably benign 0.17
IGL02801:Csmd2 APN 4 128,445,868 (GRCm39) splice site probably null
IGL02818:Csmd2 APN 4 128,103,521 (GRCm39) missense probably damaging 1.00
IGL02863:Csmd2 APN 4 128,415,677 (GRCm39) missense probably benign 0.00
IGL02876:Csmd2 APN 4 128,215,128 (GRCm39) nonsense probably null
IGL02977:Csmd2 APN 4 128,387,069 (GRCm39) nonsense probably null
IGL03006:Csmd2 APN 4 128,374,558 (GRCm39) splice site probably benign
IGL03032:Csmd2 APN 4 128,412,834 (GRCm39) missense probably benign 0.03
IGL03148:Csmd2 APN 4 128,278,062 (GRCm39) missense probably damaging 1.00
IGL03157:Csmd2 APN 4 128,308,092 (GRCm39) nonsense probably null
IGL03245:Csmd2 APN 4 128,402,915 (GRCm39) missense probably benign 0.12
IGL03376:Csmd2 APN 4 128,411,464 (GRCm39) missense probably benign 0.03
IGL03014:Csmd2 UTSW 4 128,190,222 (GRCm39) missense probably benign 0.01
R0109:Csmd2 UTSW 4 128,438,536 (GRCm39) missense probably benign 0.03
R0112:Csmd2 UTSW 4 128,389,822 (GRCm39) missense probably damaging 1.00
R0157:Csmd2 UTSW 4 128,415,704 (GRCm39) missense probably benign 0.02
R0390:Csmd2 UTSW 4 128,027,466 (GRCm39) intron probably benign
R0441:Csmd2 UTSW 4 128,414,023 (GRCm39) missense probably benign 0.00
R0519:Csmd2 UTSW 4 128,380,798 (GRCm39) missense possibly damaging 0.95
R0743:Csmd2 UTSW 4 128,007,469 (GRCm39) missense probably benign 0.00
R0746:Csmd2 UTSW 4 128,308,090 (GRCm39) missense probably damaging 1.00
R0973:Csmd2 UTSW 4 128,389,981 (GRCm39) missense possibly damaging 0.91
R1019:Csmd2 UTSW 4 128,415,807 (GRCm39) missense probably benign 0.00
R1476:Csmd2 UTSW 4 128,380,794 (GRCm39) missense probably benign 0.08
R1641:Csmd2 UTSW 4 128,377,188 (GRCm39) missense possibly damaging 0.68
R1709:Csmd2 UTSW 4 128,389,988 (GRCm39) missense probably damaging 0.96
R2866:Csmd2 UTSW 4 128,308,185 (GRCm39) critical splice donor site probably null
R2870:Csmd2 UTSW 4 128,451,511 (GRCm39) missense unknown
R2870:Csmd2 UTSW 4 128,451,511 (GRCm39) missense unknown
R2871:Csmd2 UTSW 4 128,451,511 (GRCm39) missense unknown
R2871:Csmd2 UTSW 4 128,451,511 (GRCm39) missense unknown
R2872:Csmd2 UTSW 4 128,451,511 (GRCm39) missense unknown
R2872:Csmd2 UTSW 4 128,451,511 (GRCm39) missense unknown
R2873:Csmd2 UTSW 4 128,451,511 (GRCm39) missense unknown
R2893:Csmd2 UTSW 4 128,432,786 (GRCm39) splice site probably null
R3796:Csmd2 UTSW 4 128,411,388 (GRCm39) missense probably benign 0.20
R3797:Csmd2 UTSW 4 128,411,388 (GRCm39) missense probably benign 0.20
R3798:Csmd2 UTSW 4 128,411,388 (GRCm39) missense probably benign 0.20
R3914:Csmd2 UTSW 4 128,215,117 (GRCm39) missense probably benign 0.07
R4198:Csmd2 UTSW 4 128,404,717 (GRCm39) missense probably benign 0.07
R4489:Csmd2 UTSW 4 128,275,738 (GRCm39) missense possibly damaging 0.68
R4571:Csmd2 UTSW 4 128,373,888 (GRCm39) splice site probably null
R4581:Csmd2 UTSW 4 128,262,881 (GRCm39) missense probably benign 0.02
R4599:Csmd2 UTSW 4 127,881,921 (GRCm39) missense probably benign 0.35
R4649:Csmd2 UTSW 4 128,439,866 (GRCm39) missense probably benign
R4706:Csmd2 UTSW 4 128,438,544 (GRCm39) missense probably benign
R4776:Csmd2 UTSW 4 128,336,685 (GRCm39) missense probably benign 0.09
R4838:Csmd2 UTSW 4 128,411,542 (GRCm39) missense probably benign
R4900:Csmd2 UTSW 4 128,346,318 (GRCm39) missense probably benign 0.03
R4999:Csmd2 UTSW 4 128,415,723 (GRCm39) missense probably benign 0.00
R5024:Csmd2 UTSW 4 128,215,141 (GRCm39) missense possibly damaging 0.94
R5034:Csmd2 UTSW 4 127,952,901 (GRCm39) missense probably damaging 0.98
R5152:Csmd2 UTSW 4 128,445,828 (GRCm39) missense probably benign 0.27
R5172:Csmd2 UTSW 4 128,371,190 (GRCm39) missense probably benign 0.10
R5231:Csmd2 UTSW 4 128,439,842 (GRCm39) missense probably benign 0.00
R5279:Csmd2 UTSW 4 128,350,707 (GRCm39) missense probably benign 0.30
R5287:Csmd2 UTSW 4 128,380,677 (GRCm39) missense probably benign 0.01
R5403:Csmd2 UTSW 4 128,380,677 (GRCm39) missense probably benign 0.01
R5410:Csmd2 UTSW 4 128,442,612 (GRCm39) missense probably benign
R5551:Csmd2 UTSW 4 128,404,741 (GRCm39) missense possibly damaging 0.83
R5566:Csmd2 UTSW 4 128,356,682 (GRCm39) critical splice donor site probably null
R5826:Csmd2 UTSW 4 128,412,992 (GRCm39) splice site probably null
R5907:Csmd2 UTSW 4 128,091,178 (GRCm39) missense probably damaging 0.99
R5913:Csmd2 UTSW 4 128,445,781 (GRCm39) missense probably benign 0.01
R5970:Csmd2 UTSW 4 128,439,944 (GRCm39) missense probably benign 0.00
R5977:Csmd2 UTSW 4 127,952,827 (GRCm39) missense probably damaging 1.00
R6027:Csmd2 UTSW 4 128,453,739 (GRCm39) missense unknown
R6075:Csmd2 UTSW 4 128,380,658 (GRCm39) missense probably benign 0.15
R6129:Csmd2 UTSW 4 128,387,127 (GRCm39) missense possibly damaging 0.79
R6363:Csmd2 UTSW 4 128,294,172 (GRCm39) missense probably benign 0.00
R6366:Csmd2 UTSW 4 128,377,245 (GRCm39) missense probably benign 0.00
R6404:Csmd2 UTSW 4 128,415,743 (GRCm39) missense possibly damaging 0.90
R6437:Csmd2 UTSW 4 127,881,893 (GRCm39) missense probably benign 0.24
R6441:Csmd2 UTSW 4 128,288,757 (GRCm39) missense probably benign 0.03
R6643:Csmd2 UTSW 4 128,266,390 (GRCm39) missense probably benign 0.14
R6724:Csmd2 UTSW 4 128,457,164 (GRCm39) missense probably damaging 0.97
R6734:Csmd2 UTSW 4 128,357,606 (GRCm39) missense probably benign 0.00
R6750:Csmd2 UTSW 4 128,091,018 (GRCm39) missense possibly damaging 0.91
R6801:Csmd2 UTSW 4 128,277,743 (GRCm39) missense probably benign 0.11
R6842:Csmd2 UTSW 4 128,402,952 (GRCm39) missense possibly damaging 0.72
R6843:Csmd2 UTSW 4 128,357,587 (GRCm39) missense probably benign 0.27
R6868:Csmd2 UTSW 4 128,336,633 (GRCm39) missense probably benign
R6882:Csmd2 UTSW 4 128,343,062 (GRCm39) missense probably benign 0.01
R7019:Csmd2 UTSW 4 128,262,856 (GRCm39) missense
R7028:Csmd2 UTSW 4 128,171,021 (GRCm39) missense
R7096:Csmd2 UTSW 4 128,356,519 (GRCm39) missense
R7122:Csmd2 UTSW 4 128,343,020 (GRCm39) missense
R7125:Csmd2 UTSW 4 128,389,955 (GRCm39) missense
R7197:Csmd2 UTSW 4 128,404,826 (GRCm39) missense
R7234:Csmd2 UTSW 4 128,350,572 (GRCm39) missense
R7299:Csmd2 UTSW 4 128,422,055 (GRCm39) missense
R7301:Csmd2 UTSW 4 128,422,055 (GRCm39) missense
R7319:Csmd2 UTSW 4 128,287,472 (GRCm39) missense
R7331:Csmd2 UTSW 4 128,458,021 (GRCm39) splice site probably null
R7332:Csmd2 UTSW 4 128,313,360 (GRCm39) missense
R7352:Csmd2 UTSW 4 128,451,429 (GRCm39) missense
R7402:Csmd2 UTSW 4 128,215,889 (GRCm39) missense
R7402:Csmd2 UTSW 4 128,215,888 (GRCm39) missense
R7474:Csmd2 UTSW 4 128,439,920 (GRCm39) missense
R7555:Csmd2 UTSW 4 128,346,251 (GRCm39) missense
R7592:Csmd2 UTSW 4 128,357,591 (GRCm39) missense
R7714:Csmd2 UTSW 4 128,276,743 (GRCm39) nonsense probably null
R7734:Csmd2 UTSW 4 128,445,850 (GRCm39) missense
R7735:Csmd2 UTSW 4 128,350,723 (GRCm39) critical splice donor site probably null
R7757:Csmd2 UTSW 4 128,377,249 (GRCm39) missense
R7805:Csmd2 UTSW 4 128,313,366 (GRCm39) missense
R7823:Csmd2 UTSW 4 128,103,698 (GRCm39) missense
R7904:Csmd2 UTSW 4 128,313,346 (GRCm39) missense
R7946:Csmd2 UTSW 4 128,414,058 (GRCm39) missense
R7964:Csmd2 UTSW 4 128,417,303 (GRCm39) missense
R7968:Csmd2 UTSW 4 128,091,118 (GRCm39) missense
R8003:Csmd2 UTSW 4 128,432,980 (GRCm39) nonsense probably null
R8071:Csmd2 UTSW 4 128,287,331 (GRCm39) missense
R8504:Csmd2 UTSW 4 128,440,483 (GRCm39) missense
R8511:Csmd2 UTSW 4 128,262,692 (GRCm39) missense
R8517:Csmd2 UTSW 4 128,446,479 (GRCm39) missense
R8704:Csmd2 UTSW 4 128,091,147 (GRCm39) missense
R8722:Csmd2 UTSW 4 128,445,743 (GRCm39) unclassified probably benign
R8729:Csmd2 UTSW 4 128,356,638 (GRCm39) missense
R8801:Csmd2 UTSW 4 128,457,195 (GRCm39) missense probably damaging 0.97
R8803:Csmd2 UTSW 4 128,440,477 (GRCm39) missense
R8839:Csmd2 UTSW 4 128,336,681 (GRCm39) missense
R8867:Csmd2 UTSW 4 128,451,469 (GRCm39) missense
R8913:Csmd2 UTSW 4 128,417,351 (GRCm39) missense
R8928:Csmd2 UTSW 4 128,369,582 (GRCm39) missense
R8974:Csmd2 UTSW 4 128,446,380 (GRCm39) missense
R9001:Csmd2 UTSW 4 128,308,079 (GRCm39) missense
R9132:Csmd2 UTSW 4 128,443,007 (GRCm39) missense
R9245:Csmd2 UTSW 4 128,200,168 (GRCm39) missense
R9249:Csmd2 UTSW 4 128,313,323 (GRCm39) nonsense probably null
R9254:Csmd2 UTSW 4 128,091,112 (GRCm39) missense
R9265:Csmd2 UTSW 4 128,294,163 (GRCm39) missense
R9407:Csmd2 UTSW 4 128,442,613 (GRCm39) missense
R9432:Csmd2 UTSW 4 128,171,004 (GRCm39) missense
R9559:Csmd2 UTSW 4 128,438,561 (GRCm39) missense
R9673:Csmd2 UTSW 4 128,308,062 (GRCm39) missense
R9735:Csmd2 UTSW 4 128,402,901 (GRCm39) missense
R9749:Csmd2 UTSW 4 128,389,921 (GRCm39) missense
R9803:Csmd2 UTSW 4 128,262,986 (GRCm39) missense
Z1177:Csmd2 UTSW 4 128,424,590 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- ATCACCAGTCGTACCGTGTC -3'
(R):5'- AGGGTCACCACAGTTTATAACTAG -3'

Sequencing Primer
(F):5'- TACCGTGTCTCATAAACGGG -3'
(R):5'- GACACAATGCTTGTCACTCCTAG -3'
Posted On 2020-04-06