Incidental Mutation 'R8504:Csmd2'
ID 655454
Institutional Source Beutler Lab
Gene Symbol Csmd2
Ensembl Gene ENSMUSG00000028804
Gene Name CUB and Sushi multiple domains 2
Synonyms
MMRRC Submission 067840-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.150) question?
Stock # R8504 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 127987857-128567656 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to C at 128546690 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 3183 (T3183P)
Ref Sequence ENSEMBL: ENSMUSP00000138958 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000184063]
AlphaFold no structure available at present
Predicted Effect
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T C 3: 122,129,334 (GRCm38) S1181P probably benign Het
Acvr1c C T 2: 58,283,479 (GRCm38) C337Y probably damaging Het
Adgrf5 A G 17: 43,446,949 (GRCm38) E758G probably benign Het
Akap3 T A 6: 126,864,530 (GRCm38) D37E probably damaging Het
Ano5 A T 7: 51,573,028 (GRCm38) H445L probably benign Het
Ap4b1 T A 3: 103,812,800 (GRCm38) I121N probably damaging Het
Arhgdia T C 11: 120,579,528 (GRCm38) K135E probably benign Het
Ass1 T C 2: 31,501,532 (GRCm38) F273S possibly damaging Het
Atp8a2 A C 14: 59,647,917 (GRCm38) Y1119* probably null Het
Birc6 T A 17: 74,652,005 (GRCm38) M3839K probably damaging Het
Cacna1a A G 8: 84,638,741 (GRCm38) H2171R probably benign Het
Ccdc105 T C 10: 78,750,629 (GRCm38) D196G probably damaging Het
Ccdc105 T C 10: 78,749,204 (GRCm38) D266G probably benign Het
Ccdc90b T A 7: 92,575,337 (GRCm38) D183E probably benign Het
Ccng2 C G 5: 93,273,343 (GRCm38) S237R probably benign Het
Cdh23 T A 10: 60,438,839 (GRCm38) T491S probably benign Het
Cercam T C 2: 29,881,817 (GRCm38) S550P possibly damaging Het
Chd9 A G 8: 90,996,844 (GRCm38) H1019R unknown Het
Coil A T 11: 88,981,154 (GRCm38) K114* probably null Het
Cul9 T C 17: 46,503,580 (GRCm38) Y2219C probably damaging Het
Efhd2 G A 4: 141,859,875 (GRCm38) Q199* probably null Het
Elp3 A T 14: 65,547,911 (GRCm38) S499R probably benign Het
Exoc8 T G 8: 124,895,970 (GRCm38) I553L probably benign Het
Fyco1 C A 9: 123,830,077 (GRCm38) V345L probably benign Het
Galr3 T A 15: 79,043,079 (GRCm38) V240E probably damaging Het
Gm21190 A G 5: 15,525,864 (GRCm38) S165P probably benign Het
Gnal T A 18: 67,217,184 (GRCm38) Y372* probably null Het
H2-DMa A G 17: 34,138,442 (GRCm38) N230D probably damaging Het
Hk2 T C 6: 82,744,866 (GRCm38) D164G possibly damaging Het
Ighv3-4 T A 12: 114,253,924 (GRCm38) I16F possibly damaging Het
Ivl T C 3: 92,572,771 (GRCm38) probably benign Het
Klhl8 G A 5: 103,867,948 (GRCm38) T434M probably benign Het
Lct A T 1: 128,287,569 (GRCm38) S1757T probably damaging Het
Lmbr1l T A 15: 98,912,184 (GRCm38) Y132F probably damaging Het
M6pr T C 6: 122,316,070 (GRCm38) V203A possibly damaging Het
Map9 T C 3: 82,377,169 (GRCm38) probably null Het
Muc5ac A T 7: 141,807,155 (GRCm38) D1401V probably damaging Het
Myh7 A G 14: 54,990,329 (GRCm38) S291P probably damaging Het
Nynrin G C 14: 55,870,246 (GRCm38) V937L probably benign Het
Olfr1032 T G 2: 86,007,805 (GRCm38) F10V probably damaging Het
Olfr1174-ps C T 2: 88,311,481 (GRCm38) G105D probably benign Het
Pank2 A G 2: 131,293,400 (GRCm38) N386S probably benign Het
Phkg2 G T 7: 127,582,356 (GRCm38) R237L possibly damaging Het
Pkhd1 C T 1: 20,520,208 (GRCm38) V1772I probably benign Het
Plch2 G T 4: 154,984,395 (GRCm38) P1258Q probably benign Het
Plekhm2 A T 4: 141,642,453 (GRCm38) I77N probably damaging Het
Ptprb A G 10: 116,341,031 (GRCm38) T954A probably benign Het
Ranbp3 T C 17: 56,708,273 (GRCm38) V325A probably damaging Het
Rgs10 A T 7: 128,418,069 (GRCm38) S16T probably benign Het
Scaper A T 9: 55,864,438 (GRCm38) V398E probably benign Het
Selenot A G 3: 58,585,277 (GRCm38) I62V probably benign Het
Serpinb9e T A 13: 33,255,109 (GRCm38) C173S probably benign Het
Slc13a3 G T 2: 165,434,079 (GRCm38) T249K probably damaging Het
Slc4a8 T A 15: 100,803,290 (GRCm38) V741D possibly damaging Het
Slco4a1 T C 2: 180,464,799 (GRCm38) V258A probably damaging Het
Sycp2l T G 13: 41,137,914 (GRCm38) L256R probably damaging Het
Top2a C T 11: 99,014,741 (GRCm38) V337I probably benign Het
Unc13a A C 8: 71,645,761 (GRCm38) F1127V possibly damaging Het
Wdr25 C T 12: 109,026,467 (GRCm38) Q435* probably null Het
Zc3h7b T G 15: 81,780,518 (GRCm38) L526R probably damaging Het
Zcchc11 T C 4: 108,530,942 (GRCm38) L1160P probably damaging Het
Zeb1 C A 18: 5,705,127 (GRCm38) T48K possibly damaging Het
Zfhx2 A C 14: 55,065,786 (GRCm38) S1580R probably benign Het
Zfhx3 A G 8: 108,856,917 (GRCm38) I1139V possibly damaging Het
Zfp536 C A 7: 37,480,067 (GRCm38) V1038L probably benign Het
Zfp759 T A 13: 67,138,883 (GRCm38) V166E probably benign Het
Zfp985 A T 4: 147,583,426 (GRCm38) K250N possibly 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
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
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'- TAACGGGGCTTGTTTCCTCAG -3'
(R):5'- ACTCTCATGGCGTCTTGAGAAATAG -3'

Sequencing Primer
(F):5'- TCAGGGCAGCCTCAGAACTC -3'
(R):5'- CGTCTTGAGAAATAGCTCTGCTTCAG -3'
Posted On 2020-10-20