Incidental Mutation 'R5698:Amigo2'
ID450815
Institutional Source Beutler Lab
Gene Symbol Amigo2
Ensembl Gene ENSMUSG00000048218
Gene Nameadhesion molecule with Ig like domain 2
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.234) question?
Stock #R5698 (G1)
Quality Score225
Status Not validated
Chromosome15
Chromosomal Location97244125-97247287 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 97245726 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 272 (Q272*)
Ref Sequence ENSEMBL: ENSMUSP00000155019 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053106] [ENSMUST00000059433] [ENSMUST00000229890]
Predicted Effect probably null
Transcript: ENSMUST00000053106
AA Change: Q272*
SMART Domains Protein: ENSMUSP00000059913
Gene: ENSMUSG00000048218
AA Change: Q272*

DomainStartEndE-ValueType
signal peptide 1 38 N/A INTRINSIC
LRRNT 39 71 7e-1 SMART
LRR 91 114 2.63e0 SMART
LRR 115 138 6.96e0 SMART
LRR_TYP 139 162 4.47e-3 SMART
LRR 163 186 1.07e0 SMART
LRR 190 214 1.06e2 SMART
LRRCT 227 282 4.74e-3 SMART
IGc2 300 369 9.34e-4 SMART
transmembrane domain 397 419 N/A INTRINSIC
low complexity region 435 445 N/A INTRINSIC
low complexity region 501 512 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000059433
SMART Domains Protein: ENSMUSP00000055485
Gene: ENSMUSG00000044250

DomainStartEndE-ValueType
Pfam:PC-Esterase 1 254 5.1e-53 PFAM
low complexity region 295 338 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226615
Predicted Effect probably null
Transcript: ENSMUST00000229890
AA Change: Q272*
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930556J24Rik A G 11: 3,976,366 K334E possibly damaging Het
Ache G A 5: 137,290,559 V176M probably damaging Het
Acss3 T C 10: 106,948,744 D539G probably damaging Het
Adam6b T A 12: 113,491,463 D633E probably benign Het
Aldh16a1 G A 7: 45,154,407 probably benign Het
Appbp2 A T 11: 85,210,099 H171Q probably damaging Het
Arhgef18 A G 8: 3,439,499 D277G probably damaging Het
Armc8 A G 9: 99,535,820 V95A probably benign Het
Atp6v0a4 C T 6: 38,050,507 probably null Het
Atp8a1 A T 5: 67,767,153 N289K probably benign Het
Cand2 C T 6: 115,791,743 L505F probably damaging Het
Ccnt2 A G 1: 127,803,228 K614R probably benign Het
Col25a1 A G 3: 130,478,983 probably null Het
Copa T A 1: 172,118,944 L976* probably null Het
Ddx39b T C 17: 35,251,311 V267A probably benign Het
Doxl2 A G 6: 48,976,322 T394A possibly damaging Het
Dpp4 T A 2: 62,334,311 Q709L probably damaging Het
Eno4 A G 19: 58,968,472 probably null Het
Exoc3 A G 13: 74,174,015 L647P probably benign Het
Eya4 T C 10: 23,140,077 S308G possibly damaging Het
Fbxo41 T C 6: 85,477,656 T693A possibly damaging Het
Fcgbp A G 7: 28,092,022 T903A possibly damaging Het
Fkbp10 G T 11: 100,423,526 W384L probably damaging Het
Frem2 A G 3: 53,652,505 I1527T possibly damaging Het
Gm14124 C T 2: 150,269,474 H695Y possibly damaging Het
H13 T A 2: 152,688,955 I220N probably damaging Het
Has2 T C 15: 56,667,916 R468G probably damaging Het
Ighmbp2 A G 19: 3,274,538 S243P probably damaging Het
Irs1 T C 1: 82,288,734 H587R probably benign Het
Kcnk1 C T 8: 126,025,405 T250M probably damaging Het
Kif9 T C 9: 110,510,464 V458A probably benign Het
Krt14 T C 11: 100,205,625 T208A probably benign Het
Mybpc3 C A 2: 91,124,849 H349Q possibly damaging Het
Neurl3 T A 1: 36,266,506 T207S possibly damaging Het
Nol9 T C 4: 152,050,574 V388A probably damaging Het
Notch3 T C 17: 32,157,987 N315D probably damaging Het
Oas1h G T 5: 120,870,982 A252S probably damaging Het
Olfr156 C A 4: 43,821,183 M59I probably damaging Het
Pcbp1 G A 6: 86,525,152 T255M possibly damaging Het
Plec A G 15: 76,199,608 V18A probably benign Het
Ppp1r17 A T 6: 56,026,544 E114V probably damaging Het
Scamp5 A T 9: 57,445,433 M151K possibly damaging Het
Sestd1 T C 2: 77,218,168 Y135C possibly damaging Het
Slc22a21 T G 11: 53,951,349 K534N probably benign Het
Slc25a12 T C 2: 71,282,573 E448G probably damaging Het
Slco3a1 A G 7: 74,346,818 L280P probably damaging Het
Sppl2b C A 10: 80,866,045 probably null Het
Srd5a2 T C 17: 74,027,019 E135G possibly damaging Het
Tfg A T 16: 56,701,104 M183K probably damaging Het
Ticrr G A 7: 79,679,133 M673I probably benign Het
Tm4sf20 T G 1: 82,768,237 M61L probably benign Het
Ttll8 A T 15: 88,939,006 S85T possibly damaging Het
Uggt2 G A 14: 119,042,726 S780F probably damaging Het
Uroc1 T C 6: 90,347,320 L442P probably damaging Het
Znrf3 A G 11: 5,289,006 probably benign Het
Zswim2 C A 2: 83,925,183 D125Y possibly damaging Het
Other mutations in Amigo2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00587:Amigo2 APN 15 97245446 missense possibly damaging 0.84
IGL01451:Amigo2 APN 15 97245226 missense probably benign 0.22
IGL01510:Amigo2 APN 15 97245081 missense probably benign
IGL02496:Amigo2 APN 15 97245613 nonsense probably null
IGL02720:Amigo2 APN 15 97245697 nonsense probably null
R0288:Amigo2 UTSW 15 97245679 missense probably damaging 1.00
R0377:Amigo2 UTSW 15 97246380 missense possibly damaging 0.93
R0696:Amigo2 UTSW 15 97245974 missense probably benign 0.00
R1188:Amigo2 UTSW 15 97245713 missense probably benign 0.37
R1639:Amigo2 UTSW 15 97245998 missense probably benign 0.10
R3076:Amigo2 UTSW 15 97245434 missense probably damaging 0.98
R3837:Amigo2 UTSW 15 97245315 missense probably damaging 0.99
R4378:Amigo2 UTSW 15 97245978 missense possibly damaging 0.69
R5196:Amigo2 UTSW 15 97246061 missense probably damaging 1.00
R6191:Amigo2 UTSW 15 97245538 missense probably benign 0.42
R6326:Amigo2 UTSW 15 97245375 missense probably benign 0.00
R6738:Amigo2 UTSW 15 97245464 missense possibly damaging 0.82
R7102:Amigo2 UTSW 15 97245860 missense probably damaging 1.00
R7253:Amigo2 UTSW 15 97245075 missense probably benign 0.03
R7615:Amigo2 UTSW 15 97245342 missense probably damaging 1.00
R8269:Amigo2 UTSW 15 97246231 missense possibly damaging 0.84
R8304:Amigo2 UTSW 15 97246157 missense probably damaging 1.00
R8333:Amigo2 UTSW 15 97245285 missense probably damaging 1.00
R8888:Amigo2 UTSW 15 97245508 missense probably damaging 1.00
R8895:Amigo2 UTSW 15 97245508 missense probably damaging 1.00
X0018:Amigo2 UTSW 15 97245893 missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- TCTTTATCTGGCTCCAGCAG -3'
(R):5'- TCGAATCCCTTCCATACCGATG -3'

Sequencing Primer
(F):5'- TCCAGCAGCCTGTTATCGG -3'
(R):5'- GATGCACCATATAAACTTAGTGCCGG -3'
Posted On2017-01-03