Incidental Mutation 'R4667:Ceacam20'
ID352031
Institutional Source Beutler Lab
Gene Symbol Ceacam20
Ensembl Gene ENSMUSG00000070777
Gene Namecarcinoembryonic antigen-related cell adhesion molecule 20
Synonyms
MMRRC Submission 042012-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.108) question?
Stock #R4667 (G1)
Quality Score225
Status Not validated
Chromosome7
Chromosomal Location19965412-19991104 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 19986027 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 495 (Y495H)
Ref Sequence ENSEMBL: ENSMUSP00000092344 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094753]
Predicted Effect probably damaging
Transcript: ENSMUST00000094753
AA Change: Y495H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000092344
Gene: ENSMUSG00000070777
AA Change: Y495H

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
IG 57 139 1.4e-7 SMART
IGc2 162 220 1.68e-5 SMART
IG 244 326 1.85e-7 SMART
IGc2 349 406 4.67e-4 SMART
transmembrane domain 431 453 N/A INTRINSIC
low complexity region 458 473 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000207248
AA Change: Y45H
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 109 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930539E08Rik G T 17: 28,908,313 Q241K possibly damaging Het
Acad8 A G 9: 26,990,627 L147P probably damaging Het
Adgra3 T A 5: 49,978,956 Y729F possibly damaging Het
Ago2 A G 15: 73,146,416 Y58H probably damaging Het
Akap13 A G 7: 75,729,094 T2128A probably damaging Het
Akap2 A T 4: 57,855,655 D328V possibly damaging Het
Ankhd1 C A 18: 36,648,021 P2042Q possibly damaging Het
Arhgef15 T C 11: 68,954,561 K155R probably benign Het
Atp10b T C 11: 43,247,518 F1209L probably damaging Het
B130006D01Rik A T 11: 95,726,509 probably benign Het
Bmpr2 T C 1: 59,867,716 L656S probably damaging Het
Btbd17 A G 11: 114,793,857 F119L possibly damaging Het
Ccdc191 G T 16: 43,931,283 K267N probably damaging Het
Celf2 T C 2: 6,721,528 I47V probably benign Het
Chd9 T C 8: 91,033,800 S2058P possibly damaging Het
Clcn6 T C 4: 148,024,167 E135G possibly damaging Het
Cntn1 T A 15: 92,295,079 N687K probably damaging Het
Col1a2 A T 6: 4,512,412 M99L unknown Het
Cpeb2 T C 5: 43,233,892 probably benign Het
Csn1s2b A G 5: 87,822,311 T134A possibly damaging Het
Cst13 A T 2: 148,823,081 probably benign Het
Cyp2c66 T A 19: 39,176,656 D360E probably damaging Het
Dhx8 A G 11: 101,738,161 S179G unknown Het
Dip2b A G 15: 100,151,360 I212V probably benign Het
Dnah9 G A 11: 66,155,531 H64Y probably benign Het
Dnal1 T C 12: 84,136,700 probably benign Het
Dse T G 10: 34,153,012 Y694S probably damaging Het
Dync2h1 T C 9: 7,051,411 I3175V probably benign Het
Elf5 A G 2: 103,449,060 N209D probably damaging Het
Elovl1 A G 4: 118,430,787 Y40C probably damaging Het
Erp27 T C 6: 136,908,152 E216G possibly damaging Het
F5 G A 1: 164,174,186 V153I probably benign Het
Fam186a G A 15: 99,944,532 T1277I possibly damaging Het
Fam90a1a A T 8: 21,963,346 H239L possibly damaging Het
Fchsd2 G T 7: 101,250,449 R334L probably damaging Het
Fermt3 T C 19: 7,002,920 Y369C probably damaging Het
Fhod3 C T 18: 25,066,338 P689S probably benign Het
Fnbp1l G T 3: 122,556,567 Q332K probably benign Het
Frem3 T C 8: 80,663,420 S1767P probably damaging Het
Ggt5 T C 10: 75,603,031 L121P probably damaging Het
Gm609 A G 16: 45,444,163 S11P probably benign Het
Gphn T C 12: 78,454,817 S119P probably damaging Het
Herc2 A G 7: 56,131,253 D1222G probably damaging Het
Hmx3 T C 7: 131,544,382 I273T possibly damaging Het
Hnrnpu A G 1: 178,332,181 probably benign Het
Hspg2 C T 4: 137,539,645 T1987I possibly damaging Het
Ighv1-22 T A 12: 114,746,451 Q58L probably damaging Het
Ighv14-3 T A 12: 114,060,255 I7F probably benign Het
Kcns3 C A 12: 11,091,783 R305L probably damaging Het
Kcnu1 C T 8: 25,910,921 A699V possibly damaging Het
Kif22 A C 7: 127,033,328 L270W probably damaging Het
Lrp2 G T 2: 69,489,298 H1960Q probably benign Het
March7 C T 2: 60,241,050 Q94* probably null Het
Mcoln3 A T 3: 146,131,204 I264F probably benign Het
Mdn1 A C 4: 32,679,572 T706P probably damaging Het
Mfsd2b A G 12: 4,867,636 C137R probably benign Het
Mmp25 A G 17: 23,644,607 V83A probably benign Het
Mocos T C 18: 24,666,434 Y242H probably benign Het
Msh6 T C 17: 87,984,806 S330P possibly damaging Het
Mtus2 T C 5: 148,298,260 S1156P possibly damaging Het
Muc5b G A 7: 141,842,379 R124H unknown Het
Mybbp1a G A 11: 72,447,971 E775K possibly damaging Het
Myo10 A G 15: 25,793,153 E1272G possibly damaging Het
Nars A G 18: 64,505,231 S254P possibly damaging Het
Ncapd2 A G 6: 125,184,518 I211T possibly damaging Het
Ncoa7 A T 10: 30,690,790 W582R probably damaging Het
Npr3 T A 15: 11,905,467 D58V possibly damaging Het
Nr3c1 G T 18: 39,428,727 T430K probably benign Het
Odf2l A G 3: 145,128,040 T111A probably benign Het
Ogdh G T 11: 6,340,600 C406F probably benign Het
Olfml2a T G 2: 38,949,010 S190A probably damaging Het
Olfr148 T C 9: 39,613,738 M57T probably damaging Het
Olfr243 A G 7: 103,716,638 T15A probably benign Het
Olfr870 T C 9: 20,171,098 I158V probably benign Het
Olfr965 G T 9: 39,719,709 V161F probably benign Het
Optn T C 2: 5,033,139 K415E probably benign Het
Perm1 C A 4: 156,220,206 S803* probably null Het
Pex14 T C 4: 148,984,085 T84A probably benign Het
Pih1d2 T A 9: 50,620,952 Y103* probably null Het
Pikfyve T A 1: 65,250,273 C1235S probably damaging Het
Polr1a A G 6: 71,917,821 N171S probably benign Het
Prrx1 A G 1: 163,254,047 S201P probably benign Het
Psme2b A T 11: 48,945,666 N151K probably benign Het
Serpinb5 A T 1: 106,872,295 T72S probably benign Het
Sgsm1 A G 5: 113,260,047 probably null Het
Sipa1l2 T C 8: 125,453,470 R1063G possibly damaging Het
Slc19a3 T C 1: 83,022,799 T166A probably benign Het
Slc5a4b T C 10: 76,075,045 Y319C possibly damaging Het
Stard3nl T A 13: 19,376,519 N29Y probably damaging Het
Sult6b2 G T 6: 142,801,695 C109* probably null Het
Tcf25 A G 8: 123,397,025 E467G possibly damaging Het
Tmem177 A T 1: 119,910,220 V243D probably benign Het
Tmem2 G A 19: 21,797,351 R119H probably benign Het
Tmem2 C T 19: 21,844,781 A1180V probably benign Het
Top2b T G 14: 16,409,189 I777M probably damaging Het
Tspan11 T A 6: 127,943,715 C208* probably null Het
Ttc1 A G 11: 43,745,317 V33A probably benign Het
Uck1 T A 2: 32,256,034 H283L probably damaging Het
Utrn A C 10: 12,698,053 V1091G probably benign Het
Vmn1r11 A T 6: 57,137,498 H49L probably damaging Het
Vmn1r160 G T 7: 22,872,053 S277I probably benign Het
Vmn1r18 A T 6: 57,390,084 S162T probably benign Het
Vps37b A G 5: 124,010,732 L80P probably damaging Het
Wfdc3 T C 2: 164,743,086 M1V probably null Het
Wrn A T 8: 33,324,338 N116K probably benign Het
Wscd2 G T 5: 113,577,272 G391V probably damaging Het
Zcchc11 G A 4: 108,495,159 E357K probably damaging Het
Zfp286 A G 11: 62,780,602 V215A probably benign Het
Zfp568 A G 7: 30,023,277 H549R probably damaging Het
Other mutations in Ceacam20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01572:Ceacam20 APN 7 19974274 missense probably damaging 1.00
IGL01574:Ceacam20 APN 7 19974322 missense possibly damaging 0.48
IGL02407:Ceacam20 APN 7 19970407 missense probably benign 0.26
IGL03035:Ceacam20 APN 7 19977908 critical splice donor site probably null
IGL03144:Ceacam20 APN 7 19971519 missense possibly damaging 0.65
R0129:Ceacam20 UTSW 7 19976260 missense probably damaging 1.00
R0573:Ceacam20 UTSW 7 19986668 missense probably damaging 0.97
R0616:Ceacam20 UTSW 7 19970396 missense probably benign 0.01
R1016:Ceacam20 UTSW 7 19976302 missense probably null
R1218:Ceacam20 UTSW 7 19976097 missense probably benign 0.00
R1257:Ceacam20 UTSW 7 19974192 missense probably benign 0.03
R2334:Ceacam20 UTSW 7 19971591 missense probably damaging 1.00
R3051:Ceacam20 UTSW 7 19976185 missense probably benign 0.33
R4184:Ceacam20 UTSW 7 19976116 missense probably damaging 1.00
R4668:Ceacam20 UTSW 7 19986027 missense probably damaging 1.00
R4669:Ceacam20 UTSW 7 19986027 missense probably damaging 1.00
R4953:Ceacam20 UTSW 7 19971726 missense probably damaging 1.00
R5000:Ceacam20 UTSW 7 19965528 missense probably damaging 0.98
R5450:Ceacam20 UTSW 7 19978208 missense possibly damaging 0.94
R5561:Ceacam20 UTSW 7 19970393 missense possibly damaging 0.90
R6118:Ceacam20 UTSW 7 19971729 missense possibly damaging 0.90
R6414:Ceacam20 UTSW 7 19976131 missense probably damaging 1.00
R6970:Ceacam20 UTSW 7 19989977 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCACAACTTAGCTCCTCCTCTATA -3'
(R):5'- GCAGTGACCACATCTGAGGAAA -3'

Sequencing Primer
(F):5'- AGCTCCTCCTCTATATGACTAAATGG -3'
(R):5'- AGCTAGTCTAACATGCTTAAGGCTGG -3'
Posted On2015-10-08