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: 0.150) question?
Stock # R1709 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 127987857-128567656 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 128496195 bp (GRCm38)
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: 125,489,878 (GRCm38) K152E probably benign Het
Adgrd1 T C 5: 129,179,228 (GRCm38) V641A possibly damaging Het
Adgrv1 A T 13: 81,593,060 (GRCm38) V95E probably damaging Het
Agbl5 G A 5: 30,906,241 (GRCm38) C872Y probably damaging Het
Aldh1a7 G T 19: 20,715,952 (GRCm38) T201K probably damaging Het
Aox1 C T 1: 58,077,474 (GRCm38) A788V probably benign Het
Apob T C 12: 8,009,306 (GRCm38) V2563A probably damaging Het
Atcay G A 10: 81,213,231 (GRCm38) T179I probably damaging Het
Atf5 A T 7: 44,813,283 (GRCm38) L139Q probably benign Het
Atp13a3 T C 16: 30,315,841 (GRCm38) T1205A probably benign Het
Atr C T 9: 95,871,076 (GRCm38) T656I probably benign Het
Bloc1s3 T C 7: 19,507,528 (GRCm38) E25G possibly damaging Het
Brap T C 5: 121,665,290 (GRCm38) probably null Het
C6 G T 15: 4,790,970 (GRCm38) A488S probably benign Het
Ccin T C 4: 43,984,133 (GRCm38) F180S probably damaging Het
Cd207 T C 6: 83,672,836 (GRCm38) I256V possibly damaging Het
Cdc42bpa G T 1: 180,067,224 (GRCm38) C323F probably damaging Het
Cfap57 T C 4: 118,571,704 (GRCm38) T1022A probably benign Het
Cmtr2 A T 8: 110,221,949 (GRCm38) Q297L probably benign Het
Coro7 A T 16: 4,634,441 (GRCm38) probably null Het
Cpsf2 T A 12: 101,999,542 (GRCm38) Y589N probably damaging Het
Cpxm2 T C 7: 132,059,834 (GRCm38) Y408C probably damaging Het
Crocc A G 4: 141,026,099 (GRCm38) probably null Het
Cryzl1 A C 16: 91,712,236 (GRCm38) F59C probably damaging Het
Cxcl15 C A 5: 90,801,416 (GRCm38) H147N unknown Het
Dennd4a A G 9: 64,889,605 (GRCm38) T860A possibly damaging Het
Dnah10 C T 5: 124,760,091 (GRCm38) P966L probably damaging Het
Dpp9 T A 17: 56,194,431 (GRCm38) M594L probably benign Het
Dspp C A 5: 104,175,724 (GRCm38) N244K probably damaging Het
Efcab8 T A 2: 153,814,370 (GRCm38) probably null Het
Elapor2 C T 5: 9,440,726 (GRCm38) R579* probably null Het
Fabp3 C T 4: 130,312,387 (GRCm38) T57I probably benign Het
Fbxw17 A G 13: 50,431,657 (GRCm38) M299V probably benign Het
Fbxw7 T A 3: 84,976,352 (GRCm38) I530N probably damaging Het
Gp2 C A 7: 119,451,585 (GRCm38) D308Y probably null Het
Gpd2 G A 2: 57,357,655 (GRCm38) V537M probably damaging Het
Gpr18 T A 14: 121,911,992 (GRCm38) Y207F probably damaging Het
Grip1 A T 10: 119,897,715 (GRCm38) D20V probably damaging Het
Gzmf A C 14: 56,206,940 (GRCm38) F59V probably damaging Het
H3c1 T A 13: 23,761,981 (GRCm38) I125F probably damaging Het
Igfn1 T C 1: 135,955,573 (GRCm38) I2732V probably benign Het
Ipo8 A T 6: 148,782,728 (GRCm38) D855E probably benign Het
Klrk1 A T 6: 129,614,719 (GRCm38) probably null Het
Megf11 A G 9: 64,695,412 (GRCm38) Y876C probably damaging Het
Mettl8 G T 2: 70,982,151 (GRCm38) Q12K probably benign Het
Mrgprf T C 7: 145,308,217 (GRCm38) F172S probably benign Het
Mycbp2 G A 14: 103,224,416 (GRCm38) T1432I probably damaging Het
Nek11 A C 9: 105,348,061 (GRCm38) L84R probably damaging Het
Nlrp1b T C 11: 71,201,273 (GRCm38) E9G probably benign Het
Nrxn1 T C 17: 90,037,187 (GRCm38) I433V probably damaging Het
Nup153 A G 13: 46,693,974 (GRCm38) C660R probably damaging Het
Or1o11 T A 17: 37,446,200 (GRCm38) Y226* probably null Het
Or2a25 T C 6: 42,912,144 (GRCm38) V207A possibly damaging Het
Or4z4 G T 19: 12,098,881 (GRCm38) P253T probably damaging Het
Or5h26 T A 16: 59,167,901 (GRCm38) M81L probably benign Het
P2rx7 T A 5: 122,670,465 (GRCm38) N303K possibly damaging Het
Pank4 T C 4: 154,970,047 (GRCm38) L159P probably damaging Het
Pcdhb22 A T 18: 37,518,500 (GRCm38) H7L probably benign Het
Pdzd8 A T 19: 59,301,339 (GRCm38) I543N probably benign Het
Pramel25 T C 4: 143,793,546 (GRCm38) V120A possibly damaging Het
Prrc2b C A 2: 32,194,461 (GRCm38) R313S probably damaging Het
Rbm12b1 T C 4: 12,145,827 (GRCm38) C600R probably benign Het
Rem1 G A 2: 152,634,535 (GRCm38) V238M probably damaging Het
Rfx6 T A 10: 51,678,402 (GRCm38) M113K possibly damaging Het
Rlf A T 4: 121,149,823 (GRCm38) D653E probably benign Het
Rnf130 A G 11: 50,087,386 (GRCm38) D258G possibly damaging Het
Robo2 A G 16: 73,956,523 (GRCm38) V822A possibly damaging Het
Rps6kc1 G T 1: 190,800,336 (GRCm38) Q490K possibly damaging Het
Scn9a T C 2: 66,483,506 (GRCm38) Y1945C probably damaging Het
Setd2 T A 9: 110,549,857 (GRCm38) D913E probably benign Het
Sfr1 G T 19: 47,735,003 (GRCm38) E315D possibly damaging Het
Smarca5 G A 8: 80,709,220 (GRCm38) R763* probably null Het
Sugct A C 13: 17,672,566 (GRCm38) I44S probably damaging Het
Syce1l A G 8: 113,654,030 (GRCm38) probably null Het
Tbc1d8b A G X: 139,734,080 (GRCm38) I654V probably benign Het
Tcf23 T A 5: 30,973,508 (GRCm38) Y163* probably null Het
Terf2ip TG T 8: 112,011,606 (GRCm38) probably null Het
Tmem158 T C 9: 123,259,885 (GRCm38) S221G possibly damaging Het
Tnrc6a A G 7: 123,169,982 (GRCm38) T332A probably benign Het
Trappc4 T C 9: 44,407,211 (GRCm38) T31A probably benign Het
Trim27 T C 13: 21,188,065 (GRCm38) probably null Het
Ttyh2 T A 11: 114,708,475 (GRCm38) L330Q probably damaging Het
Tubgcp3 A T 8: 12,639,532 (GRCm38) L578* probably null Het
Txndc11 C A 16: 11,128,701 (GRCm38) E83* probably null Het
Utp20 T C 10: 88,749,297 (GRCm38) K2635R probably benign Het
V1ra8 C T 6: 90,203,322 (GRCm38) T169I probably damaging Het
Vcl G A 14: 21,019,373 (GRCm38) V706I probably benign Het
Vmn2r106 A T 17: 20,279,111 (GRCm38) D179E probably benign Het
Vmn2r80 T C 10: 79,194,389 (GRCm38) M683T probably benign Het
Xirp2 A G 2: 67,509,871 (GRCm38) I819V probably benign Het
Zfp735 T C 11: 73,711,763 (GRCm38) F511S probably benign Het
Zfp831 T C 2: 174,645,890 (GRCm38) V786A probably benign Het
Zfp992 T A 4: 146,466,492 (GRCm38) H223Q probably benign Het
Zfyve19 A C 2: 119,210,819 (GRCm38) Q72P 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
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'- CAATACTGAGAACTGAGGTTTTACGG -3'
(R):5'- GAGGAACTTTACATAATGTCACAGC -3'
Posted On 2014-05-14