Incidental Mutation 'R5907:Csmd2'
ID 460696
Institutional Source Beutler Lab
Gene Symbol Csmd2
Ensembl Gene ENSMUSG00000028804
Gene Name CUB and Sushi multiple domains 2
Synonyms
MMRRC Submission 044104-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.150) question?
Stock # R5907 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 127987857-128567656 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 128197385 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 239 (P239L)
Ref Sequence ENSEMBL: ENSMUSP00000138958 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000184063]
AlphaFold no structure available at present
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129619
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144298
Predicted Effect probably damaging
Transcript: ENSMUST00000184063
AA Change: P239L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
Meta Mutation Damage Score 0.6164 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.9%
  • 20x: 93.7%
Validation Efficiency 93% (92/99)
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931429L15Rik A T 9: 46,306,822 (GRCm38) I206N probably damaging Het
Aadac T A 3: 60,039,827 (GRCm38) D315E probably damaging Het
Abcc8 A G 7: 46,123,906 (GRCm38) F800L probably benign Het
Adamts16 C A 13: 70,728,910 (GRCm38) C1204F probably damaging Het
Adcy7 A G 8: 88,312,228 (GRCm38) T291A possibly damaging Het
AI182371 G T 2: 35,086,122 (GRCm38) Q255K possibly damaging Het
Aig1 A T 10: 13,801,784 (GRCm38) probably benign Het
Ak5 T C 3: 152,615,952 (GRCm38) D266G probably damaging Het
Ank1 A T 8: 23,140,204 (GRCm38) E93D probably damaging Het
Bop1 T C 15: 76,455,917 (GRCm38) D153G probably damaging Het
Bub1 G T 2: 127,819,222 (GRCm38) N316K probably benign Het
Capn1 T C 19: 5,997,797 (GRCm38) N412S probably benign Het
Cdca4 A G 12: 112,821,719 (GRCm38) S130P probably benign Het
Cdh23 A T 10: 60,428,379 (GRCm38) D663E probably damaging Het
Clca3a1 T C 3: 144,749,642 (GRCm38) probably benign Het
Dlg2 A T 7: 91,997,371 (GRCm38) probably benign Het
Dnpep C T 1: 75,311,991 (GRCm38) probably null Het
Dop1b A T 16: 93,801,581 (GRCm38) H1878L probably damaging Het
Dscam C T 16: 96,820,920 (GRCm38) D444N probably damaging Het
Emc9 C T 14: 55,582,112 (GRCm38) probably null Het
Ero1b T A 13: 12,600,318 (GRCm38) I346N probably damaging Het
Etv3 A G 3: 87,535,543 (GRCm38) T145A probably benign Het
Fam170a T A 18: 50,282,254 (GRCm38) probably null Het
Fap A T 2: 62,544,356 (GRCm38) I261N probably damaging Het
Fbn2 T C 18: 58,045,337 (GRCm38) N1943S probably damaging Het
Glb1l3 A T 9: 26,826,383 (GRCm38) V466E probably damaging Het
Gm10521 A T 1: 171,896,503 (GRCm38) H127L unknown Het
Gm8186 G T 17: 26,099,156 (GRCm38) N22K probably damaging Het
Gpr132 A C 12: 112,852,097 (GRCm38) L370V probably benign Het
Hectd1 A T 12: 51,798,754 (GRCm38) H449Q probably damaging Het
Hook3 A G 8: 26,044,278 (GRCm38) probably benign Het
Ift140 A G 17: 25,092,371 (GRCm38) D1180G probably benign Het
Isoc2b A T 7: 4,849,578 (GRCm38) probably null Het
Itga4 C T 2: 79,322,656 (GRCm38) H896Y probably benign Het
Itga7 T C 10: 128,942,981 (GRCm38) Y326H probably damaging Het
Itpr3 A T 17: 27,117,893 (GRCm38) E2397V probably damaging Het
Jtb T G 3: 90,235,577 (GRCm38) probably null Het
Klk15 A G 7: 43,938,759 (GRCm38) T164A probably benign Het
Kmt2e C A 5: 23,464,706 (GRCm38) H64N probably damaging Het
Lamtor3 T A 3: 137,927,293 (GRCm38) probably benign Het
Laptm4b A G 15: 34,258,684 (GRCm38) I35V possibly damaging Het
Lrrc1 A C 9: 77,434,097 (GRCm38) L393R probably damaging Het
Ltn1 A G 16: 87,381,503 (GRCm38) S1613P possibly damaging Het
Mtmr4 T A 11: 87,612,050 (GRCm38) W920R probably damaging Het
Nbeal1 T C 1: 60,228,791 (GRCm38) probably benign Het
Nup133 A G 8: 123,916,299 (GRCm38) Y761H possibly damaging Het
Nwd2 T A 5: 63,805,983 (GRCm38) V970D probably damaging Het
Or4c126 A G 2: 89,993,957 (GRCm38) H188R probably benign Het
Or6n1 T C 1: 174,089,219 (GRCm38) Y60H probably benign Het
Or8k24 A T 2: 86,385,874 (GRCm38) S181R probably damaging Het
Osbp C T 19: 11,973,876 (GRCm38) L262F probably damaging Het
Phf8-ps G T 17: 33,066,150 (GRCm38) D559E probably benign Het
Phldb2 G T 16: 45,825,188 (GRCm38) D343E probably damaging Het
Phrf1 T A 7: 141,260,540 (GRCm38) M1216K possibly damaging Het
Phyh A T 2: 4,930,651 (GRCm38) probably null Het
Plekhf1 A T 7: 38,222,170 (GRCm38) probably null Het
Rars1 T C 11: 35,828,648 (GRCm38) N116D probably damaging Het
Rnf44 T A 13: 54,682,808 (GRCm38) Q181L possibly damaging Het
Rpe65 T C 3: 159,615,682 (GRCm38) probably null Het
Scaf1 A G 7: 45,013,592 (GRCm38) probably benign Het
Serpinb11 A T 1: 107,372,189 (GRCm38) R88S probably benign Het
Slc7a7 T C 14: 54,379,103 (GRCm38) N174S probably damaging Het
Slc9a5 T C 8: 105,357,175 (GRCm38) probably null Het
Slfn1 C A 11: 83,121,176 (GRCm38) N39K possibly damaging Het
Snx20 G A 8: 88,627,295 (GRCm38) A269V possibly damaging Het
Snx6 A G 12: 54,754,319 (GRCm38) Y298H probably damaging Het
Stk32c C T 7: 139,120,674 (GRCm38) R213Q probably benign Het
Tgfbr1 A T 4: 47,396,555 (GRCm38) I190F probably damaging Het
Ube2d2b T A 5: 107,830,632 (GRCm38) F50I probably damaging Het
Ubl5 G A 9: 20,646,534 (GRCm38) probably benign Het
Ubqln5 T G 7: 104,128,574 (GRCm38) T348P possibly damaging Het
Usp46 T C 5: 74,037,085 (GRCm38) D22G probably benign Het
Vars1 A G 17: 35,012,376 (GRCm38) N655S probably damaging Het
Vmn2r103 A C 17: 19,812,453 (GRCm38) I830L possibly damaging Het
Vmn2r26 T A 6: 124,039,871 (GRCm38) N431K probably benign Het
Vmn2r4 G T 3: 64,391,066 (GRCm38) P547Q probably damaging Het
Yy1 T A 12: 108,806,428 (GRCm38) probably benign Het
Zbtb2 A T 10: 4,368,592 (GRCm38) L478Q possibly damaging Het
Zfp12 T C 5: 143,239,988 (GRCm38) F17S probably damaging Het
Zfp219 T A 14: 52,007,149 (GRCm38) probably null Het
Zfp629 G A 7: 127,610,370 (GRCm38) H756Y probably damaging Het
Zfp748 T C 13: 67,541,173 (GRCm38) K656R possibly damaging Het
Zfp958 T A 8: 4,629,072 (GRCm38) Y366N probably benign Het
Zp3 C T 5: 135,988,523 (GRCm38) T396I probably benign 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
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'- CCTAGGATGTGTAGGCTCAAGC -3'
(R):5'- ACTAGGAAGTCAGGTGGGTC -3'

Sequencing Primer
(F):5'- CTTCCGAGTCACACTTGTGGG -3'
(R):5'- CAGGTGGGTCTGGGGAC -3'
Posted On 2017-02-28