Incidental Mutation 'R1665:Angel2'
ID187081
Institutional Source Beutler Lab
Gene Symbol Angel2
Ensembl Gene ENSMUSG00000026634
Gene Nameangel homolog 2
SynonymsD1Ertd654e, 2610307I21Rik, D1Ertd396e, 5730410O10Rik
MMRRC Submission 039701-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R1665 (G1)
Quality Score225
Status Validated
Chromosome1
Chromosomal Location190925112-190946962 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 190937467 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 115 (Y115H)
Ref Sequence ENSEMBL: ENSMUSP00000115804 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027947] [ENSMUST00000066632] [ENSMUST00000110899] [ENSMUST00000123384] [ENSMUST00000130298] [ENSMUST00000135364]
Predicted Effect probably damaging
Transcript: ENSMUST00000027947
AA Change: Y115H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000027947
Gene: ENSMUSG00000026634
AA Change: Y115H

DomainStartEndE-ValueType
Pfam:Exo_endo_phos 148 511 2.4e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000066632
AA Change: Y137H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000064556
Gene: ENSMUSG00000026634
AA Change: Y137H

DomainStartEndE-ValueType
Pfam:Exo_endo_phos 170 533 9.9e-27 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110899
AA Change: Y115H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000106524
Gene: ENSMUSG00000026634
AA Change: Y115H

DomainStartEndE-ValueType
Pfam:Exo_endo_phos 148 511 2.4e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123384
SMART Domains Protein: ENSMUSP00000117912
Gene: ENSMUSG00000026634

DomainStartEndE-ValueType
Pfam:Exo_endo_phos 1 207 4.4e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130298
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134187
Predicted Effect probably damaging
Transcript: ENSMUST00000135364
AA Change: Y115H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115804
Gene: ENSMUSG00000026634
AA Change: Y115H

DomainStartEndE-ValueType
low complexity region 1 19 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137608
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144693
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146048
Meta Mutation Damage Score 0.188 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.0%
Validation Efficiency 100% (87/87)
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 G A 17: 24,377,842 G423E probably damaging Het
Acox3 A T 5: 35,603,027 H429L probably damaging Het
Afg1l T A 10: 42,426,577 K142N probably damaging Het
Aldh1a7 T C 19: 20,727,461 I18V probably benign Het
Bsg T G 10: 79,711,518 N261K probably damaging Het
C2cd2l A T 9: 44,316,775 V83E probably benign Het
Caml C A 13: 55,631,971 L286I probably benign Het
Ccdc125 A G 13: 100,693,573 I284V probably benign Het
Ces2a G A 8: 104,737,555 probably benign Het
Cfap61 T C 2: 146,035,319 probably null Het
Creg2 C T 1: 39,623,204 W253* probably null Het
Csmd3 T C 15: 47,696,789 T2293A probably damaging Het
Cttnbp2 A T 6: 18,434,983 I292K probably benign Het
Dab2ip T A 2: 35,720,278 M770K probably damaging Het
Dct T A 14: 118,034,251 D389V probably damaging Het
Dnah17 A T 11: 118,121,495 probably benign Het
Dnah6 T C 6: 73,124,778 E1921G probably benign Het
Ehmt1 A G 2: 24,877,464 S272P probably damaging Het
Ero1lb T C 13: 12,579,261 probably null Het
Fnip2 A G 3: 79,515,149 F108S probably benign Het
Foxb1 G A 9: 69,759,822 A142V probably damaging Het
Fras1 A T 5: 96,598,909 S613C probably damaging Het
Gm11639 A G 11: 104,721,114 K594R probably benign Het
Gm7276 C A 18: 77,185,570 probably benign Het
Gnb4 A C 3: 32,590,039 L152* probably null Het
H1fnt G T 15: 98,256,915 Q118K probably benign Het
Hdac7 A G 15: 97,806,525 L119P probably damaging Het
Hsd17b4 G A 18: 50,160,215 E274K probably benign Het
Htr4 T C 18: 62,412,234 I30T probably damaging Het
Ikzf2 T A 1: 69,538,814 Y512F probably damaging Het
Itga10 C T 3: 96,651,738 probably benign Het
Klhl22 C A 16: 17,776,488 D160E probably benign Het
Kpna6 T A 4: 129,657,471 R80S probably benign Het
Lclat1 A G 17: 73,188,004 E142G probably damaging Het
Lrig3 T C 10: 125,997,701 Y349H probably benign Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,185,261 probably null Het
Map1b T A 13: 99,431,929 N1428I unknown Het
Map3k19 T A 1: 127,817,656 T1354S possibly damaging Het
Med13l T A 5: 118,749,748 W1696R probably damaging Het
Mfn1 T G 3: 32,534,322 V66G probably benign Het
Mllt10 A T 2: 18,208,790 Q459L possibly damaging Het
Morc2a G A 11: 3,675,885 V162M probably benign Het
Muc15 C T 2: 110,733,898 Q260* probably null Het
Nfkb1 T C 3: 135,594,957 H616R probably damaging Het
Nr2c1 T A 10: 94,188,183 W417R probably damaging Het
Olfr1279 T C 2: 111,306,771 C189R probably damaging Het
Olfr1285 T C 2: 111,408,753 Y113H probably damaging Het
Olfr1480 A T 19: 13,529,838 H99L probably damaging Het
Olfr250 C T 9: 38,367,566 H7Y probably benign Het
Olfr541 G T 7: 140,704,794 C181F probably damaging Het
Olfr714 T C 7: 107,074,274 S149P probably damaging Het
Pde10a A G 17: 8,898,870 D26G probably damaging Het
Pi15 G T 1: 17,621,502 C176F probably damaging Het
Pou2f2 T A 7: 25,092,724 T569S possibly damaging Het
Prf1 A C 10: 61,302,887 E208A probably benign Het
Prkd1 G A 12: 50,394,926 H277Y probably damaging Het
Rc3h1 T A 1: 160,959,423 V796E probably benign Het
Rgl1 T C 1: 152,533,575 Y503C probably damaging Het
Ripk3 T A 14: 55,786,351 H1L probably benign Het
Ryr1 C T 7: 29,036,078 D4064N probably damaging Het
Sec63 T A 10: 42,798,728 probably null Het
Slco1a4 T G 6: 141,839,577 M96L possibly damaging Het
Slit3 A T 11: 35,234,906 R137S possibly damaging Het
Smad1 T C 8: 79,372,029 E52G probably damaging Het
Srd5a2 A T 17: 74,021,481 W201R probably damaging Het
Steap1 A T 5: 5,736,498 L313Q probably damaging Het
Syt2 C A 1: 134,747,620 A403D probably damaging Het
Tax1bp1 T A 6: 52,736,912 S225R probably benign Het
Thap3 C T 4: 151,985,704 V78M probably damaging Het
Thoc5 A G 11: 4,919,792 K446R probably benign Het
Timmdc1 A C 16: 38,510,717 probably null Het
Tm6sf2 G T 8: 70,078,930 probably benign Het
Tmem126b G T 7: 90,475,971 A2E probably damaging Het
Trim9 T A 12: 70,255,113 R584W probably damaging Het
Ttn C A 2: 76,830,856 probably benign Het
Vmn1r25 A T 6: 57,978,461 I281N probably damaging Het
Wdr59 A G 8: 111,479,362 F553S probably damaging Het
Zc3h4 A G 7: 16,429,580 M575V unknown Het
Zfp53 A G 17: 21,509,504 T600A probably damaging Het
Zic5 A G 14: 122,459,527 S559P unknown Het
Other mutations in Angel2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01351:Angel2 APN 1 190933113 missense probably benign 0.15
R0077:Angel2 UTSW 1 190933087 missense possibly damaging 0.95
R0116:Angel2 UTSW 1 190940990 missense probably benign 0.00
R0881:Angel2 UTSW 1 190937464 missense probably damaging 1.00
R0891:Angel2 UTSW 1 190945073 missense possibly damaging 0.92
R1530:Angel2 UTSW 1 190939088 missense probably damaging 1.00
R1661:Angel2 UTSW 1 190937467 missense probably damaging 1.00
R1670:Angel2 UTSW 1 190942163 missense probably benign 0.12
R5175:Angel2 UTSW 1 190940884 nonsense probably null
R5504:Angel2 UTSW 1 190943886 missense probably damaging 1.00
R6020:Angel2 UTSW 1 190932871 missense probably benign
R7194:Angel2 UTSW 1 190944997 missense probably damaging 1.00
R7289:Angel2 UTSW 1 190941174 missense possibly damaging 0.56
Z1088:Angel2 UTSW 1 190937554 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGAAGTCTTAACCAGGGACCAGTG -3'
(R):5'- GGGGAACCGAAAACTCCAGTGTAAC -3'

Sequencing Primer
(F):5'- TTCAGAAAGATTCGGTAGCCCTC -3'
(R):5'- TCCAGTAAATCCTGCGAGAG -3'
Posted On2014-05-09