Incidental Mutation 'R1709:Csmd2'
ID 190297
Institutional Source Beutler Lab
Gene Symbol Csmd2
Ensembl Gene ENSMUSG00000028804
Gene Name CUB and Sushi multiple domains 2
Synonyms
MMRRC Submission 039742-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R1709 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 127881650-128461449 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 128389988 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 2241 (V2241A)
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: V2241A

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs A G 5: 125,566,942 (GRCm39) K152E probably benign Het
Adgrd1 T C 5: 129,256,292 (GRCm39) V641A possibly damaging Het
Adgrv1 A T 13: 81,741,179 (GRCm39) V95E probably damaging Het
Agbl5 G A 5: 31,063,585 (GRCm39) C872Y probably damaging Het
Aldh1a7 G T 19: 20,693,316 (GRCm39) T201K probably damaging Het
Aox1 C T 1: 58,116,633 (GRCm39) A788V probably benign Het
Apob T C 12: 8,059,306 (GRCm39) V2563A probably damaging Het
Atcay G A 10: 81,049,065 (GRCm39) T179I probably damaging Het
Atf5 A T 7: 44,462,707 (GRCm39) L139Q probably benign Het
Atp13a3 T C 16: 30,134,659 (GRCm39) T1205A probably benign Het
Atr C T 9: 95,753,129 (GRCm39) T656I probably benign Het
Bloc1s3 T C 7: 19,241,453 (GRCm39) E25G possibly damaging Het
Brap T C 5: 121,803,353 (GRCm39) probably null Het
C6 G T 15: 4,820,452 (GRCm39) A488S probably benign Het
Ccin T C 4: 43,984,133 (GRCm39) F180S probably damaging Het
Cd207 T C 6: 83,649,818 (GRCm39) I256V possibly damaging Het
Cdc42bpa G T 1: 179,894,789 (GRCm39) C323F probably damaging Het
Cfap57 T C 4: 118,428,901 (GRCm39) T1022A probably benign Het
Cmtr2 A T 8: 110,948,581 (GRCm39) Q297L probably benign Het
Coro7 A T 16: 4,452,305 (GRCm39) probably null Het
Cpsf2 T A 12: 101,965,801 (GRCm39) Y589N probably damaging Het
Cpxm2 T C 7: 131,661,563 (GRCm39) Y408C probably damaging Het
Crocc A G 4: 140,753,410 (GRCm39) probably null Het
Cryzl1 A C 16: 91,509,124 (GRCm39) F59C probably damaging Het
Cxcl15 C A 5: 90,949,275 (GRCm39) H147N unknown Het
Dennd4a A G 9: 64,796,887 (GRCm39) T860A possibly damaging Het
Dnah10 C T 5: 124,837,155 (GRCm39) P966L probably damaging Het
Dpp9 T A 17: 56,501,431 (GRCm39) M594L probably benign Het
Dspp C A 5: 104,323,590 (GRCm39) N244K probably damaging Het
Efcab8 T A 2: 153,656,290 (GRCm39) probably null Het
Elapor2 C T 5: 9,490,726 (GRCm39) R579* probably null Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fbxw17 A G 13: 50,585,693 (GRCm39) M299V probably benign Het
Fbxw7 T A 3: 84,883,659 (GRCm39) I530N probably damaging Het
Gp2 C A 7: 119,050,808 (GRCm39) D308Y probably null Het
Gpd2 G A 2: 57,247,667 (GRCm39) V537M probably damaging Het
Gpr18 T A 14: 122,149,404 (GRCm39) Y207F probably damaging Het
Grip1 A T 10: 119,733,620 (GRCm39) D20V probably damaging Het
Gzmf A C 14: 56,444,397 (GRCm39) F59V probably damaging Het
H3c1 T A 13: 23,945,964 (GRCm39) I125F probably damaging Het
Igfn1 T C 1: 135,883,311 (GRCm39) I2732V probably benign Het
Ipo8 A T 6: 148,684,226 (GRCm39) D855E probably benign Het
Klrk1 A T 6: 129,591,682 (GRCm39) probably null Het
Megf11 A G 9: 64,602,694 (GRCm39) Y876C probably damaging Het
Mettl8 G T 2: 70,812,495 (GRCm39) Q12K probably benign Het
Mrgprf T C 7: 144,861,954 (GRCm39) F172S probably benign Het
Mycbp2 G A 14: 103,461,852 (GRCm39) T1432I probably damaging Het
Nek11 A C 9: 105,225,260 (GRCm39) L84R probably damaging Het
Nlrp1b T C 11: 71,092,099 (GRCm39) E9G probably benign Het
Nrxn1 T C 17: 90,344,615 (GRCm39) I433V probably damaging Het
Nup153 A G 13: 46,847,450 (GRCm39) C660R probably damaging Het
Or1o11 T A 17: 37,757,091 (GRCm39) Y226* probably null Het
Or2a25 T C 6: 42,889,078 (GRCm39) V207A possibly damaging Het
Or4z4 G T 19: 12,076,245 (GRCm39) P253T probably damaging Het
Or5h26 T A 16: 58,988,264 (GRCm39) M81L probably benign Het
P2rx7 T A 5: 122,808,528 (GRCm39) N303K possibly damaging Het
Pank4 T C 4: 155,054,504 (GRCm39) L159P probably damaging Het
Pcdhb22 A T 18: 37,651,553 (GRCm39) H7L probably benign Het
Pdzd8 A T 19: 59,289,771 (GRCm39) I543N probably benign Het
Pramel25 T C 4: 143,520,116 (GRCm39) V120A possibly damaging Het
Prrc2b C A 2: 32,084,473 (GRCm39) R313S probably damaging Het
Rbm12b1 T C 4: 12,145,827 (GRCm39) C600R probably benign Het
Rem1 G A 2: 152,476,455 (GRCm39) V238M probably damaging Het
Rfx6 T A 10: 51,554,498 (GRCm39) M113K possibly damaging Het
Rlf A T 4: 121,007,020 (GRCm39) D653E probably benign Het
Rnf130 A G 11: 49,978,213 (GRCm39) D258G possibly damaging Het
Robo2 A G 16: 73,753,411 (GRCm39) V822A possibly damaging Het
Rps6kc1 G T 1: 190,532,533 (GRCm39) Q490K possibly damaging Het
Scn9a T C 2: 66,313,850 (GRCm39) Y1945C probably damaging Het
Setd2 T A 9: 110,378,925 (GRCm39) D913E probably benign Het
Sfr1 G T 19: 47,723,442 (GRCm39) E315D possibly damaging Het
Smarca5 G A 8: 81,435,849 (GRCm39) R763* probably null Het
Sugct A C 13: 17,847,151 (GRCm39) I44S probably damaging Het
Syce1l A G 8: 114,380,662 (GRCm39) probably null Het
Tbc1d8b A G X: 138,634,829 (GRCm39) I654V probably benign Het
Tcf23 T A 5: 31,130,852 (GRCm39) Y163* probably null Het
Terf2ip TG T 8: 112,738,238 (GRCm39) probably null Het
Tmem158 T C 9: 123,088,950 (GRCm39) S221G possibly damaging Het
Tnrc6a A G 7: 122,769,205 (GRCm39) T332A probably benign Het
Trappc4 T C 9: 44,318,508 (GRCm39) T31A probably benign Het
Trim27 T C 13: 21,372,235 (GRCm39) probably null Het
Ttyh2 T A 11: 114,599,301 (GRCm39) L330Q probably damaging Het
Tubgcp3 A T 8: 12,689,532 (GRCm39) L578* probably null Het
Txndc11 C A 16: 10,946,565 (GRCm39) E83* probably null Het
Utp20 T C 10: 88,585,159 (GRCm39) K2635R probably benign Het
V1ra8 C T 6: 90,180,304 (GRCm39) T169I probably damaging Het
Vcl G A 14: 21,069,441 (GRCm39) V706I probably benign Het
Vmn2r106 A T 17: 20,499,373 (GRCm39) D179E probably benign Het
Vmn2r80 T C 10: 79,030,223 (GRCm39) M683T probably benign Het
Xirp2 A G 2: 67,340,215 (GRCm39) I819V probably benign Het
Zfp735 T C 11: 73,602,589 (GRCm39) F511S probably benign Het
Zfp831 T C 2: 174,487,683 (GRCm39) V786A probably benign Het
Zfp992 T A 4: 146,550,949 (GRCm39) H223Q probably benign Het
Zfyve19 A C 2: 119,041,300 (GRCm39) Q72P probably damaging 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
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
R7700:Csmd2 UTSW 4 128,439,549 (GRCm39) splice site probably null
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'- GTGGAGTAAGCACAGAAGCTCCTG -3'
(R):5'- AGCACTGGCTCAACACATGATGAC -3'

Sequencing Primer
(F):5'- CAATACTGAGAACTGAGGTTTTACGG -3'
(R):5'- GAGGAACTTTACATAATGTCACAGC -3'
Posted On 2014-05-14