Incidental Mutation 'R5024:Csmd2'
ID 391211
Institutional Source Beutler Lab
Gene Symbol Csmd2
Ensembl Gene ENSMUSG00000028804
Gene Name CUB and Sushi multiple domains 2
Synonyms
MMRRC Submission 042615-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.150) question?
Stock # R5024 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 127987857-128567656 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 128321348 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 521 (Y521C)
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 possibly damaging
Transcript: ENSMUST00000184063
AA Change: Y521C

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
Meta Mutation Damage Score 0.2246 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
Validation Efficiency 99% (95/96)
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrd1 A G 5: 129,171,895 (GRCm38) N575S probably damaging Het
Akap6 C T 12: 53,142,562 (GRCm38) T2253M probably benign Het
Arhgef37 A C 18: 61,506,440 (GRCm38) N289K probably damaging Het
Armc4 T C 18: 7,088,555 (GRCm38) M1005V probably benign Het
Atad2b A C 12: 4,937,534 (GRCm38) T121P probably benign Het
Atp4a A C 7: 30,715,864 (GRCm38) D303A possibly damaging Het
BC005561 A G 5: 104,522,258 (GRCm38) K1549E possibly damaging Het
Calu A T 6: 29,374,519 (GRCm38) probably benign Het
Ccdc141 A C 2: 77,054,703 (GRCm38) N531K probably benign Het
Ccdc146 T C 5: 21,399,614 (GRCm38) probably null Het
Cd207 G A 6: 83,674,319 (GRCm38) T218I probably damaging Het
Cd2ap A C 17: 42,805,345 (GRCm38) probably null Het
Clip3 G A 7: 30,292,219 (GRCm38) probably benign Het
Clstn1 G A 4: 149,635,294 (GRCm38) R432H possibly damaging Het
Dnah8 A T 17: 30,736,096 (GRCm38) E2033V probably damaging Het
Eng T G 2: 32,673,392 (GRCm38) V319G probably benign Het
Erp44 C T 4: 48,241,296 (GRCm38) W57* probably null Het
Etv1 T A 12: 38,854,234 (GRCm38) probably null Het
Eva1c T C 16: 90,876,193 (GRCm38) probably null Het
Fam196a A G 7: 134,918,478 (GRCm38) S108P probably damaging Het
Fam221b T A 4: 43,659,674 (GRCm38) N482I probably damaging Het
Fam83h T C 15: 76,005,142 (GRCm38) H202R probably damaging Het
Fbxw13 T C 9: 109,179,335 (GRCm38) T449A probably benign Het
Fbxw25 A T 9: 109,663,374 (GRCm38) probably null Het
Frmd3 T A 4: 74,098,144 (GRCm38) S99T probably benign Het
Gm5155 A G 7: 17,910,682 (GRCm38) I575V probably benign Het
Gm5174 G T 10: 86,656,587 (GRCm38) noncoding transcript Het
Gm6904 T C 14: 59,258,483 (GRCm38) probably null Het
Gm815 C T 19: 26,887,775 (GRCm38) Q49* probably null Het
H2-DMa A T 17: 34,138,487 (GRCm38) I245F possibly damaging Het
Herc1 A T 9: 66,470,326 (GRCm38) K3458M possibly damaging Het
Hirip3 A G 7: 126,864,489 (GRCm38) probably null Het
Hjurp A T 1: 88,275,050 (GRCm38) Y71N possibly damaging Het
Hmcn1 T A 1: 150,680,688 (GRCm38) E2449V possibly damaging Het
Igll1 G T 16: 16,863,793 (GRCm38) H33N probably benign Het
Il6 T C 5: 30,019,514 (GRCm38) L184P probably damaging Het
Impg2 T A 16: 56,260,100 (GRCm38) S756T probably damaging Het
Kank4 T G 4: 98,785,661 (GRCm38) D5A probably damaging Het
Kcna7 G A 7: 45,406,591 (GRCm38) R77H probably damaging Het
Kcns2 A T 15: 34,839,537 (GRCm38) T349S probably benign Het
Keap1 A G 9: 21,237,226 (GRCm38) Y162H probably damaging Het
Kif9 T C 9: 110,483,093 (GRCm38) F10L possibly damaging Het
Klhdc8b ACACGCACGCACGCACGCACGCACGCACGCACGCACGCAC ACACGCACGCACGCACGCACGCACGCACGCACGCACGCACGCAC 9: 108,448,985 (GRCm38) probably benign Het
Klk14 G A 7: 43,692,077 (GRCm38) C51Y probably damaging Het
Lpar6 A G 14: 73,239,369 (GRCm38) T257A probably damaging Het
Lpin1 A T 12: 16,554,006 (GRCm38) L608Q probably benign Het
Lyst T C 13: 13,634,404 (GRCm38) S220P probably benign Het
M1ap A G 6: 83,028,358 (GRCm38) probably benign Het
Mbd6 C T 10: 127,286,441 (GRCm38) V173I probably benign Het
Myo5b A T 18: 74,716,034 (GRCm38) T1115S possibly damaging Het
Mysm1 C A 4: 94,951,016 (GRCm38) V683F possibly damaging Het
Nlrp4g T A 9: 124,350,155 (GRCm38) noncoding transcript Het
Olfr1040 G T 2: 86,146,533 (GRCm38) A67E probably damaging Het
Olfr1062 C T 2: 86,423,461 (GRCm38) G72S possibly damaging Het
Olfr292 A T 7: 86,694,881 (GRCm38) M142L probably benign Het
Olfr318 T A 11: 58,720,950 (GRCm38) I33F probably benign Het
Otud6b T A 4: 14,826,293 (GRCm38) Q34L probably damaging Het
Parp11 C T 6: 127,471,636 (GRCm38) T72I probably damaging Het
Pbx1 T A 1: 168,183,589 (GRCm38) D343V possibly damaging Het
Ppp1r12b G T 1: 134,955,733 (GRCm38) A17E probably benign Het
Pramef20 C A 4: 144,373,308 (GRCm38) E296* probably null Het
Ranbp9 A T 13: 43,434,855 (GRCm38) I67N probably damaging Het
Rasgrp4 A G 7: 29,148,407 (GRCm38) E414G probably damaging Het
Rbbp5 A G 1: 132,490,488 (GRCm38) H15R possibly damaging Het
Scd2 A G 19: 44,301,271 (GRCm38) Y235C probably benign Het
Sdr16c5 C T 4: 4,010,365 (GRCm38) G170S probably damaging Het
Sh3bp4 G T 1: 89,145,595 (GRCm38) G722C probably damaging Het
Shmt1 A T 11: 60,797,479 (GRCm38) probably benign Het
Slc12a1 A G 2: 125,166,137 (GRCm38) I206V probably benign Het
Slc26a3 A G 12: 31,453,908 (GRCm38) D304G probably benign Het
Slc26a7 T A 4: 14,532,572 (GRCm38) D434V possibly damaging Het
Slc6a16 G T 7: 45,259,966 (GRCm38) M185I probably benign Het
Stat4 A G 1: 52,082,570 (GRCm38) I363V possibly damaging Het
Tgfb1i1 G T 7: 128,248,217 (GRCm38) M1I probably null Het
Tmem225 T C 9: 40,149,343 (GRCm38) V66A probably benign Het
Tmtc4 T C 14: 122,941,302 (GRCm38) probably null Het
Trpc4 T A 3: 54,194,796 (GRCm38) N38K probably benign Het
Ttll12 A T 15: 83,587,113 (GRCm38) Y218N probably damaging Het
Ttn A T 2: 76,948,425 (GRCm38) probably null Het
Tulp1 A C 17: 28,351,995 (GRCm38) Y178* probably null Het
Vmn2r58 A G 7: 41,864,322 (GRCm38) V299A probably damaging Het
Washc4 C A 10: 83,583,336 (GRCm38) Q911K possibly damaging Het
Wdr3 T C 3: 100,154,936 (GRCm38) D221G probably benign Het
Zan A T 5: 137,461,893 (GRCm38) C1245* probably null Het
Zfyve9 A C 4: 108,691,669 (GRCm38) S773A 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
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'- AGGGCAGTGTATATAGCAGCC -3'
(R):5'- ACTATGAAGTCTCTTCCCCTAGG -3'

Sequencing Primer
(F):5'- AGTGTATATAGCAGCCGCCCC -3'
(R):5'- AAGTCTCTTCCCCTAGGCTGGG -3'
Posted On 2016-06-06