Incidental Mutation 'R2113:Cgn'
ID 232752
Institutional Source Beutler Lab
Gene Symbol Cgn
Ensembl Gene ENSMUSG00000068876
Gene Name cingulin
Synonyms 6330408J11Rik
MMRRC Submission 040117-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2113 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 94667376-94693826 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 94687116 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 62 (V62D)
Ref Sequence ENSEMBL: ENSMUSP00000142809 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107272] [ENSMUST00000107273] [ENSMUST00000153263] [ENSMUST00000155485]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000107272
AA Change: V62D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102893
Gene: ENSMUSG00000068876
AA Change: V62D

DomainStartEndE-ValueType
low complexity region 31 43 N/A INTRINSIC
low complexity region 189 198 N/A INTRINSIC
internal_repeat_1 214 229 8.06e-5 PROSPERO
low complexity region 242 260 N/A INTRINSIC
internal_repeat_1 287 302 8.06e-5 PROSPERO
low complexity region 446 462 N/A INTRINSIC
low complexity region 466 481 N/A INTRINSIC
low complexity region 536 549 N/A INTRINSIC
low complexity region 567 592 N/A INTRINSIC
low complexity region 660 676 N/A INTRINSIC
low complexity region 758 775 N/A INTRINSIC
Pfam:Myosin_tail_1 783 1140 3.4e-31 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107273
AA Change: V62D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102894
Gene: ENSMUSG00000068876
AA Change: V62D

DomainStartEndE-ValueType
low complexity region 31 43 N/A INTRINSIC
low complexity region 189 198 N/A INTRINSIC
internal_repeat_1 214 229 8.83e-5 PROSPERO
low complexity region 242 260 N/A INTRINSIC
internal_repeat_1 287 302 8.83e-5 PROSPERO
low complexity region 454 470 N/A INTRINSIC
low complexity region 474 489 N/A INTRINSIC
low complexity region 544 557 N/A INTRINSIC
low complexity region 575 600 N/A INTRINSIC
low complexity region 668 684 N/A INTRINSIC
low complexity region 766 783 N/A INTRINSIC
Pfam:Myosin_tail_1 799 1144 2.2e-37 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000153263
AA Change: V62D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143156
Gene: ENSMUSG00000068876
AA Change: V62D

DomainStartEndE-ValueType
low complexity region 31 43 N/A INTRINSIC
low complexity region 189 198 N/A INTRINSIC
low complexity region 242 260 N/A INTRINSIC
coiled coil region 337 402 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000155485
AA Change: V62D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142809
Gene: ENSMUSG00000068876
AA Change: V62D

DomainStartEndE-ValueType
low complexity region 31 43 N/A INTRINSIC
low complexity region 189 198 N/A INTRINSIC
low complexity region 242 260 N/A INTRINSIC
low complexity region 340 357 N/A INTRINSIC
coiled coil region 381 447 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased sensitivity to the ulcerogenic action of cysteamine. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 127 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd4 C A 12: 84,655,790 (GRCm39) G295* probably null Het
Acad9 T C 3: 36,128,525 (GRCm39) Y129H probably damaging Het
Actn4 C T 7: 28,597,549 (GRCm39) G608D probably benign Het
Adcyap1r1 T A 6: 55,458,100 (GRCm39) N300K probably damaging Het
Adh5 A G 3: 138,157,245 (GRCm39) I269V probably benign Het
Afap1l2 G A 19: 56,901,821 (GRCm39) A842V possibly damaging Het
AI429214 A T 8: 37,461,154 (GRCm39) K101* probably null Het
Alg10b T A 15: 90,109,860 (GRCm39) W58R probably damaging Het
Alpk2 C T 18: 65,438,754 (GRCm39) E1347K probably benign Het
Amotl2 G T 9: 102,601,922 (GRCm39) E389* probably null Het
Ap5m1 G A 14: 49,323,705 (GRCm39) R465Q probably damaging Het
Apoa1 A C 9: 46,140,512 (GRCm39) S48R probably damaging Het
Asb1 T C 1: 91,471,950 (GRCm39) L34P probably damaging Het
Atg14 C T 14: 47,788,781 (GRCm39) A191T probably damaging Het
Atp13a4 C T 16: 29,260,102 (GRCm39) V235I possibly damaging Het
Atrnl1 C T 19: 57,744,048 (GRCm39) Q1217* probably null Het
Bltp2 T C 11: 78,159,598 (GRCm39) V549A probably benign Het
Bsn A T 9: 107,992,085 (GRCm39) H1222Q probably benign Het
Catsper4 A T 4: 133,945,552 (GRCm39) V169E probably damaging Het
Cbx4 C T 11: 118,972,718 (GRCm39) G219E probably damaging Het
Ccdc136 C T 6: 29,413,031 (GRCm39) T406I possibly damaging Het
Celsr3 A T 9: 108,715,669 (GRCm39) Y2117F probably damaging Het
Cenpf T A 1: 189,411,299 (GRCm39) Q295L probably damaging Het
Ces1b A G 8: 93,794,783 (GRCm39) V272A probably benign Het
Ckap4 T G 10: 84,369,387 (GRCm39) Q115P possibly damaging Het
Clec10a T C 11: 70,060,650 (GRCm39) probably null Het
Clmn A T 12: 104,747,067 (GRCm39) S827T probably benign Het
Cntn4 T C 6: 106,466,658 (GRCm39) S187P probably damaging Het
Cntnap5a A T 1: 116,116,095 (GRCm39) I526F probably damaging Het
Cntnap5b A G 1: 100,202,140 (GRCm39) Q329R probably benign Het
Col1a1 T A 11: 94,839,188 (GRCm39) S979T unknown Het
Crat T A 2: 30,292,654 (GRCm39) Y606F probably benign Het
Cyp2c29 G T 19: 39,318,708 (GRCm39) C396F probably damaging Het
Cyp2d34 G T 15: 82,501,817 (GRCm39) P231Q probably damaging Het
Ddi2 A T 4: 141,430,591 (GRCm39) probably null Het
Dicer1 A T 12: 104,679,473 (GRCm39) H501Q probably damaging Het
Dnah12 A G 14: 26,488,098 (GRCm39) I1001V probably damaging Het
Dnase2a T A 8: 85,637,500 (GRCm39) C301S probably damaging Het
Dock10 T A 1: 80,584,280 (GRCm39) D142V probably damaging Het
Dpp8 G A 9: 64,971,150 (GRCm39) C590Y probably benign Het
Dst T A 1: 34,314,317 (GRCm39) M6707K probably damaging Het
Duox1 T C 2: 122,167,735 (GRCm39) V1006A probably benign Het
Dync1h1 T C 12: 110,596,420 (GRCm39) S1623P probably damaging Het
Ehmt1 A T 2: 24,694,015 (GRCm39) D1011E probably damaging Het
Epc2 T A 2: 49,422,235 (GRCm39) D376E probably benign Het
Eps8 C A 6: 137,514,633 (GRCm39) probably null Het
F11 T C 8: 45,699,869 (GRCm39) T406A probably benign Het
Fat3 T G 9: 15,911,082 (GRCm39) D1640A probably damaging Het
Fbxo15 A T 18: 84,977,230 (GRCm39) R47S probably benign Het
Fbxo28 A T 1: 182,157,490 (GRCm39) V109E probably damaging Het
Fn1 A T 1: 71,665,323 (GRCm39) S931R probably damaging Het
Fndc3b T C 3: 27,697,185 (GRCm39) D9G probably damaging Het
Frem2 G A 3: 53,560,343 (GRCm39) T1388I probably damaging Het
Fstl3 C A 10: 79,617,012 (GRCm39) T185N probably damaging Het
Glo1 A T 17: 30,823,014 (GRCm39) Y49* probably null Het
Gtsf2 T C 15: 103,348,100 (GRCm39) M137V probably benign Het
Gzmk C T 13: 113,310,489 (GRCm39) G110S probably benign Het
Hdac9 G T 12: 34,439,331 (GRCm39) S428R probably damaging Het
Hnrnpul1 G A 7: 25,432,694 (GRCm39) T456I possibly damaging Het
Ino80 T A 2: 119,284,565 (GRCm39) H172L probably damaging Het
Itgb8 A C 12: 119,154,347 (GRCm39) L230R probably damaging Het
Klf9 C T 19: 23,142,052 (GRCm39) R171W probably damaging Het
Kmt2b G T 7: 30,282,812 (GRCm39) P1050Q probably damaging Het
Krt15 A T 11: 100,026,484 (GRCm39) F67L unknown Het
Maml3 T A 3: 51,598,077 (GRCm39) Y223F probably damaging Het
Mcm9 C T 10: 53,491,943 (GRCm39) probably null Het
Mettl3 A G 14: 52,532,441 (GRCm39) *104Q probably null Het
Msrb3 T A 10: 120,687,985 (GRCm39) D30V possibly damaging Het
Mycbp2 T C 14: 103,457,512 (GRCm39) T1562A probably damaging Het
Nat14 T C 7: 4,927,038 (GRCm39) V70A possibly damaging Het
Nbeal2 T C 9: 110,454,474 (GRCm39) T2685A probably damaging Het
Nek1 A G 8: 61,469,327 (GRCm39) D128G probably damaging Het
Nfam1 T A 15: 82,899,202 (GRCm39) K155* probably null Het
Noc4l A T 5: 110,798,425 (GRCm39) M255K possibly damaging Het
Nolc1 GCA GCAACA 19: 46,069,800 (GRCm39) probably benign Het
Nolc1 CAG CAGGAG 19: 46,069,798 (GRCm39) probably benign Het
Nprl2 T C 9: 107,422,511 (GRCm39) S334P probably benign Het
Nsrp1 A G 11: 76,937,396 (GRCm39) S267P probably benign Het
Ntn4 A T 10: 93,480,701 (GRCm39) M142L probably damaging Het
Nup188 T A 2: 30,194,113 (GRCm39) C139* probably null Het
Nup210l A T 3: 90,098,281 (GRCm39) N1411I possibly damaging Het
Or10g1 A G 14: 52,647,753 (GRCm39) L192P probably damaging Het
Or5ak24 T G 2: 85,260,430 (GRCm39) T248P probably damaging Het
Pard3 A T 8: 128,115,018 (GRCm39) T579S probably damaging Het
Pcnx3 G T 19: 5,721,584 (GRCm39) D1071E possibly damaging Het
Pi4k2a T A 19: 42,103,510 (GRCm39) I340N possibly damaging Het
Pkdrej T A 15: 85,703,185 (GRCm39) D917V probably damaging Het
Plekhg4 T A 8: 106,106,066 (GRCm39) F821Y probably damaging Het
Ptgfrn C T 3: 100,984,625 (GRCm39) R189H probably benign Het
Ptpn18 T A 1: 34,510,742 (GRCm39) S235R probably damaging Het
Rabep2 A G 7: 126,044,460 (GRCm39) probably null Het
Rbp3 T G 14: 33,678,014 (GRCm39) I654S probably benign Het
Rimbp3 T C 16: 17,027,539 (GRCm39) L321P probably benign Het
Rims2 T A 15: 39,374,722 (GRCm39) M1028K probably benign Het
Ruvbl1 T A 6: 88,460,003 (GRCm39) V221D probably damaging Het
Ruvbl2 A T 7: 45,073,527 (GRCm39) probably null Het
Scn7a C T 2: 66,506,312 (GRCm39) D1526N probably damaging Het
Scnn1a T C 6: 125,314,774 (GRCm39) F218S possibly damaging Het
Sh3tc2 T A 18: 62,146,176 (GRCm39) M1185K probably damaging Het
Slain1 C A 14: 103,888,282 (GRCm39) D67E possibly damaging Het
Snx33 T C 9: 56,833,724 (GRCm39) D115G probably benign Het
Sowaha G A 11: 53,369,789 (GRCm39) R316C probably damaging Het
Spata17 A T 1: 186,830,108 (GRCm39) F309I possibly damaging Het
Spmip7 G A 11: 11,440,293 (GRCm39) probably null Het
Ssrp1 G T 2: 84,873,350 (GRCm39) probably null Het
St6gal1 C G 16: 23,147,167 (GRCm39) T225S probably damaging Het
Sulf1 C G 1: 12,918,398 (GRCm39) F38L probably damaging Het
Tbc1d7 G A 13: 43,306,562 (GRCm39) T138M probably damaging Het
Tdpoz4 T A 3: 93,704,351 (GRCm39) M216K probably damaging Het
Tmem200a A G 10: 25,869,220 (GRCm39) S350P probably damaging Het
Tnpo3 A T 6: 29,551,871 (GRCm39) D903E probably benign Het
Trpc4ap A T 2: 155,499,856 (GRCm39) I222N probably damaging Het
Trrap T A 5: 144,781,021 (GRCm39) Y3261N probably damaging Het
Ttn A G 2: 76,542,954 (GRCm39) V33344A possibly damaging Het
Uchl4 A T 9: 64,142,818 (GRCm39) T100S probably damaging Het
Uxs1 A G 1: 43,810,933 (GRCm39) Y97H probably damaging Het
Vmn1r192 A T 13: 22,371,800 (GRCm39) V140D possibly damaging Het
Vmn2r114 ATTT ATT 17: 23,509,906 (GRCm39) probably null Het
Vmn2r7 A G 3: 64,599,025 (GRCm39) S511P possibly damaging Het
Vmn2r88 T C 14: 51,655,651 (GRCm39) L621P probably damaging Het
Vps45 A T 3: 95,954,365 (GRCm39) M174K probably benign Het
Wdr72 A T 9: 74,052,454 (GRCm39) M162L probably benign Het
Wdr81 T A 11: 75,344,461 (GRCm39) M269L probably benign Het
Zfp53 A G 17: 21,728,713 (GRCm39) T249A probably benign Het
Zfp758 T C 17: 22,580,626 (GRCm39) S22P probably benign Het
Zfp780b T C 7: 27,663,298 (GRCm39) D419G possibly damaging Het
Zfp934 A T 13: 62,666,507 (GRCm39) Y45N probably damaging Het
Other mutations in Cgn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00228:Cgn APN 3 94,672,855 (GRCm39) missense probably benign 0.00
IGL00823:Cgn APN 3 94,674,519 (GRCm39) missense probably damaging 1.00
IGL01349:Cgn APN 3 94,674,486 (GRCm39) nonsense probably null
IGL01433:Cgn APN 3 94,686,769 (GRCm39) missense probably damaging 0.99
IGL01467:Cgn APN 3 94,686,898 (GRCm39) missense probably damaging 1.00
IGL01781:Cgn APN 3 94,680,515 (GRCm39) missense probably benign
IGL01789:Cgn APN 3 94,683,528 (GRCm39) missense possibly damaging 0.63
IGL01879:Cgn APN 3 94,681,674 (GRCm39) nonsense probably null
IGL02805:Cgn APN 3 94,681,687 (GRCm39) missense probably damaging 0.96
IGL02814:Cgn APN 3 94,681,550 (GRCm39) missense probably benign 0.00
IGL02926:Cgn APN 3 94,685,326 (GRCm39) missense probably benign 0.01
IGL03113:Cgn APN 3 94,686,544 (GRCm39) missense probably benign
IGL03340:Cgn APN 3 94,685,405 (GRCm39) intron probably benign
R0054:Cgn UTSW 3 94,669,899 (GRCm39) missense possibly damaging 0.95
R0310:Cgn UTSW 3 94,672,960 (GRCm39) missense possibly damaging 0.88
R0355:Cgn UTSW 3 94,682,242 (GRCm39) missense probably benign
R0615:Cgn UTSW 3 94,678,024 (GRCm39) unclassified probably benign
R0656:Cgn UTSW 3 94,682,204 (GRCm39) unclassified probably benign
R1491:Cgn UTSW 3 94,670,535 (GRCm39) missense probably damaging 1.00
R1509:Cgn UTSW 3 94,681,568 (GRCm39) missense probably benign 0.00
R1794:Cgn UTSW 3 94,669,864 (GRCm39) critical splice donor site probably null
R3121:Cgn UTSW 3 94,685,792 (GRCm39) splice site probably benign
R4655:Cgn UTSW 3 94,686,559 (GRCm39) nonsense probably null
R4703:Cgn UTSW 3 94,683,405 (GRCm39) utr 3 prime probably benign
R4714:Cgn UTSW 3 94,686,748 (GRCm39) missense probably damaging 1.00
R4715:Cgn UTSW 3 94,686,748 (GRCm39) missense probably damaging 1.00
R4959:Cgn UTSW 3 94,685,564 (GRCm39) missense probably benign 0.06
R4973:Cgn UTSW 3 94,685,564 (GRCm39) missense probably benign 0.06
R4995:Cgn UTSW 3 94,687,246 (GRCm39) missense probably damaging 1.00
R5011:Cgn UTSW 3 94,683,455 (GRCm39) missense probably null 1.00
R5329:Cgn UTSW 3 94,687,300 (GRCm39) start codon destroyed probably null 0.02
R5524:Cgn UTSW 3 94,687,299 (GRCm39) start codon destroyed probably null 0.56
R5695:Cgn UTSW 3 94,680,945 (GRCm39) missense probably benign 0.00
R5839:Cgn UTSW 3 94,681,703 (GRCm39) missense probably damaging 0.99
R5987:Cgn UTSW 3 94,686,832 (GRCm39) missense probably benign 0.00
R6146:Cgn UTSW 3 94,674,435 (GRCm39) missense possibly damaging 0.94
R6311:Cgn UTSW 3 94,685,486 (GRCm39) intron probably benign
R6948:Cgn UTSW 3 94,680,531 (GRCm39) missense probably benign 0.06
R7038:Cgn UTSW 3 94,670,392 (GRCm39) missense possibly damaging 0.80
R7231:Cgn UTSW 3 94,680,502 (GRCm39) missense probably damaging 0.99
R7251:Cgn UTSW 3 94,683,509 (GRCm39) missense possibly damaging 0.82
R7408:Cgn UTSW 3 94,670,362 (GRCm39) nonsense probably null
R7828:Cgn UTSW 3 94,676,489 (GRCm39) missense probably damaging 0.97
R7882:Cgn UTSW 3 94,669,941 (GRCm39) missense probably damaging 1.00
R7975:Cgn UTSW 3 94,671,836 (GRCm39) missense probably benign 0.03
R8082:Cgn UTSW 3 94,670,368 (GRCm39) missense probably benign 0.21
R8090:Cgn UTSW 3 94,687,263 (GRCm39) missense probably damaging 1.00
R8128:Cgn UTSW 3 94,676,691 (GRCm39) missense probably benign 0.06
R8275:Cgn UTSW 3 94,682,263 (GRCm39) missense possibly damaging 0.52
R8774:Cgn UTSW 3 94,680,810 (GRCm39) missense probably damaging 1.00
R8774-TAIL:Cgn UTSW 3 94,680,810 (GRCm39) missense probably damaging 1.00
R9036:Cgn UTSW 3 94,674,551 (GRCm39) missense possibly damaging 0.90
R9060:Cgn UTSW 3 94,687,165 (GRCm39) missense probably damaging 1.00
R9434:Cgn UTSW 3 94,672,837 (GRCm39) missense probably damaging 0.99
R9616:Cgn UTSW 3 94,670,332 (GRCm39) missense probably damaging 0.97
R9720:Cgn UTSW 3 94,686,621 (GRCm39) missense probably benign 0.10
Z1176:Cgn UTSW 3 94,683,488 (GRCm39) missense probably benign 0.16
Z1176:Cgn UTSW 3 94,681,656 (GRCm39) missense probably damaging 1.00
Z1176:Cgn UTSW 3 94,681,583 (GRCm39) missense possibly damaging 0.81
Predicted Primers PCR Primer
(F):5'- CGACTGGGAACGGATCAGTTTTC -3'
(R):5'- ACACATGATGGCTGATCCCC -3'

Sequencing Primer
(F):5'- GGGAACGGATCAGTTTTCCATTCAAG -3'
(R):5'- ACTGAAATGGGCACCCTT -3'
Posted On 2014-09-18