Incidental Mutation 'R9432:Csmd2'
ID 712997
Institutional Source Beutler Lab
Gene Symbol Csmd2
Ensembl Gene ENSMUSG00000028804
Gene Name CUB and Sushi multiple domains 2
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R9432 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 127881650-128461449 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 128171004 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 332 (H332Q)
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: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik T C 5: 109,884,917 (GRCm39) R314G unknown Het
Abca13 G A 11: 9,244,559 (GRCm39) V2141M probably benign Het
Abcc10 G A 17: 46,634,710 (GRCm39) A431V possibly damaging Het
Acod1 A G 14: 103,292,414 (GRCm39) R313G probably damaging Het
Adam3 G T 8: 25,193,928 (GRCm39) S361R probably damaging Het
Ahcyl2 C T 6: 29,768,874 (GRCm39) T113M possibly damaging Het
Ano8 C A 8: 71,933,561 (GRCm39) R577L unknown Het
Arhgef7 T A 8: 11,869,646 (GRCm39) S653R probably damaging Het
Atp10a G A 7: 58,469,418 (GRCm39) V1090I possibly damaging Het
Birc6 A G 17: 74,966,216 (GRCm39) M4048V probably benign Het
C3 G A 17: 57,530,950 (GRCm39) P384S probably damaging Het
Camkk1 A T 11: 72,928,757 (GRCm39) E432V probably damaging Het
Celsr3 T A 9: 108,726,032 (GRCm39) V3087D probably benign Het
Ckap4 A G 10: 84,363,543 (GRCm39) S507P probably damaging Het
Coq6 G A 12: 84,420,464 (GRCm39) M471I probably benign Het
Cxcr1 T A 1: 74,231,231 (GRCm39) N264Y probably damaging Het
Dchs2 C A 3: 83,036,032 (GRCm39) R260S possibly damaging Het
Elmod2 C A 8: 84,057,761 (GRCm39) A41S possibly damaging Het
Emilin2 G A 17: 71,581,781 (GRCm39) T315I probably benign Het
Eml1 A G 12: 108,482,842 (GRCm39) N487S probably benign Het
Epn1 G T 7: 5,096,369 (GRCm39) R221L probably benign Het
Faah A G 4: 115,874,772 (GRCm39) V28A probably benign Het
Fbl G A 7: 27,876,689 (GRCm39) R230H probably benign Het
Fsip2 C T 2: 82,805,907 (GRCm39) S742F probably damaging Het
Gm5460 A G 14: 33,767,769 (GRCm39) D184G possibly damaging Het
Gpatch2l T C 12: 86,307,408 (GRCm39) V262A probably damaging Het
Grin2c A T 11: 115,142,052 (GRCm39) L789* probably null Het
H1f0 C T 15: 78,912,947 (GRCm39) P9L probably damaging Het
Hectd4 A G 5: 121,460,864 (GRCm39) T948A probably benign Het
Herc2 G A 7: 55,780,932 (GRCm39) G1199D probably damaging Het
Hoxb7 G T 11: 96,177,617 (GRCm39) A22S possibly damaging Het
Ifih1 T A 2: 62,439,618 (GRCm39) I519F probably damaging Het
Ifit1bl1 T A 19: 34,571,498 (GRCm39) I320F possibly damaging Het
Iqgap2 T C 13: 95,774,261 (GRCm39) T1320A probably benign Het
Kat2a A G 11: 100,602,178 (GRCm39) V192A probably damaging Het
Kat6b A C 14: 21,672,077 (GRCm39) H329P probably damaging Het
Klhl29 A G 12: 5,260,056 (GRCm39) L54P probably benign Het
Kntc1 A T 5: 123,925,112 (GRCm39) I1142F possibly damaging Het
Lipo3 A G 19: 33,533,864 (GRCm39) Y323H probably damaging Het
Lmtk3 G A 7: 45,441,994 (GRCm39) V351I probably damaging Het
Lrrc8b T C 5: 105,633,888 (GRCm39) S787P probably benign Het
Magi1 A G 6: 93,660,058 (GRCm39) I1179T probably damaging Het
Mapk11 T C 15: 89,028,631 (GRCm39) D269G probably benign Het
Mfsd13a T G 19: 46,354,868 (GRCm39) I15R probably benign Het
Myo1h G A 5: 114,499,366 (GRCm39) V143I possibly damaging Het
Naaladl1 T C 19: 6,156,917 (GRCm39) I187T possibly damaging Het
Nos1 G A 5: 118,034,871 (GRCm39) V416M probably damaging Het
Or14a256 G A 7: 86,265,065 (GRCm39) R263C possibly damaging Het
Or14j8 A G 17: 38,263,559 (GRCm39) S119P probably damaging Het
Or8k30 T G 2: 86,338,914 (GRCm39) I37S probably benign Het
Pcdh15 A G 10: 74,460,170 (GRCm39) T1373A probably damaging Het
Pcdh18 T G 3: 49,699,667 (GRCm39) M932L probably damaging Het
Pcdhb15 T A 18: 37,608,683 (GRCm39) H638Q probably benign Het
Pcdhb19 A G 18: 37,630,628 (GRCm39) E141G possibly damaging Het
Pds5b T G 5: 150,693,256 (GRCm39) L656R probably damaging Het
Plcl1 T C 1: 55,445,587 (GRCm39) L14P probably benign Het
Pzp A T 6: 128,499,128 (GRCm39) I173N Het
Rnf123 C T 9: 107,937,008 (GRCm39) R849H probably damaging Het
Sfrp5 T C 19: 42,188,225 (GRCm39) D198G probably damaging Het
Sftpb G C 6: 72,283,843 (GRCm39) A147P probably benign Het
Shank1 G A 7: 43,962,342 (GRCm39) S71N unknown Het
Slc30a6 A G 17: 74,719,699 (GRCm39) T220A possibly damaging Het
Slc5a3 T A 16: 91,874,615 (GRCm39) V224D probably benign Het
Smad5 T A 13: 56,875,417 (GRCm39) Y202N probably benign Het
Smok2b A G 17: 13,453,881 (GRCm39) I14V probably damaging Het
Tas2r108 T A 6: 40,471,121 (GRCm39) I199K probably damaging Het
Tcea2 A G 2: 181,322,227 (GRCm39) I10V probably damaging Het
Tfg G A 16: 56,524,868 (GRCm39) R113* probably null Het
Tubb4a A T 17: 57,388,034 (GRCm39) L331I probably benign Het
Ugt2b37 A G 5: 87,402,046 (GRCm39) V195A probably damaging Het
Umad1 A G 6: 8,401,096 (GRCm39) H55R unknown Het
Vmn1r176 A T 7: 23,534,743 (GRCm39) Y137N probably damaging Het
Vmn1r44 T A 6: 89,870,473 (GRCm39) M73K possibly damaging Het
Vmn2r112 A G 17: 22,821,233 (GRCm39) T69A Het
Vmn2r59 A T 7: 41,696,254 (GRCm39) Y163N probably damaging Het
Vps13c T A 9: 67,830,137 (GRCm39) D1514E probably benign Het
Vsir A G 10: 60,193,732 (GRCm39) D65G possibly damaging Het
Ypel3 A T 7: 126,379,262 (GRCm39) M112L probably benign Het
Zfp26 T A 9: 20,347,830 (GRCm39) K911N probably damaging Het
Zfp362 C T 4: 128,670,980 (GRCm39) R346Q probably damaging Het
Zfp595 A T 13: 67,465,407 (GRCm39) Y288* probably null Het
Zfyve28 G T 5: 34,400,633 (GRCm39) Q22K possibly damaging Het
Zswim4 T G 8: 84,963,539 (GRCm39) D32A 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
R1709:Csmd2 UTSW 4 128,389,988 (GRCm39) missense probably damaging 0.96
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
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'- GGCCTCCTAGAGCATCAGATAG -3'
(R):5'- TGCCCCTCTGGTACCTAAAG -3'

Sequencing Primer
(F):5'- ATCAGATAGATGGTGCTCTCCTC -3'
(R):5'- CCTAGGCATGTGCAGAGATGC -3'
Posted On 2022-05-16