Incidental Mutation 'R1665:Angel2'
ID 187081
Institutional Source Beutler Lab
Gene Symbol Angel2
Ensembl Gene ENSMUSG00000026634
Gene Name angel homolog 2
Synonyms 2610307I21Rik, 5730410O10Rik, D1Ertd396e, D1Ertd654e
MMRRC Submission 039701-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1665 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 190657309-190679159 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 190669664 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8K1C0
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 noncoding transcript
Transcript: ENSMUST00000144693
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: ENSMUST00000146048
Meta Mutation Damage Score 0.1579 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: 24,596,816 (GRCm39) G423E probably damaging Het
Acox3 A T 5: 35,760,371 (GRCm39) H429L probably damaging Het
Afg1l T A 10: 42,302,573 (GRCm39) K142N probably damaging Het
Aldh1a7 T C 19: 20,704,825 (GRCm39) I18V probably benign Het
Bsg T G 10: 79,547,352 (GRCm39) N261K probably damaging Het
C2cd2l A T 9: 44,228,072 (GRCm39) V83E probably benign Het
Caml C A 13: 55,779,784 (GRCm39) L286I probably benign Het
Ccdc125 A G 13: 100,830,081 (GRCm39) I284V probably benign Het
Ces2a G A 8: 105,464,187 (GRCm39) probably benign Het
Cfap61 T C 2: 145,877,239 (GRCm39) probably null Het
Creg2 C T 1: 39,662,372 (GRCm39) W253* probably null Het
Csmd3 T C 15: 47,560,185 (GRCm39) T2293A probably damaging Het
Cttnbp2 A T 6: 18,434,982 (GRCm39) I292K probably benign Het
Dab2ip T A 2: 35,610,290 (GRCm39) M770K probably damaging Het
Dct T A 14: 118,271,663 (GRCm39) D389V probably damaging Het
Dnah17 A T 11: 118,012,321 (GRCm39) probably benign Het
Dnah6 T C 6: 73,101,761 (GRCm39) E1921G probably benign Het
Efcab3 A G 11: 104,611,940 (GRCm39) K594R probably benign Het
Ehmt1 A G 2: 24,767,476 (GRCm39) S272P probably damaging Het
Ero1b T C 13: 12,594,142 (GRCm39) probably null Het
Fnip2 A G 3: 79,422,456 (GRCm39) F108S probably benign Het
Foxb1 G A 9: 69,667,104 (GRCm39) A142V probably damaging Het
Fras1 A T 5: 96,746,768 (GRCm39) S613C probably damaging Het
Gm7276 C A 18: 77,273,266 (GRCm39) probably benign Het
Gnb4 A C 3: 32,644,188 (GRCm39) L152* probably null Het
H1f7 G T 15: 98,154,796 (GRCm39) Q118K probably benign Het
Hdac7 A G 15: 97,704,406 (GRCm39) L119P probably damaging Het
Hsd17b4 G A 18: 50,293,282 (GRCm39) E274K probably benign Het
Htr4 T C 18: 62,545,305 (GRCm39) I30T probably damaging Het
Ikzf2 T A 1: 69,577,973 (GRCm39) Y512F probably damaging Het
Itga10 C T 3: 96,559,054 (GRCm39) probably benign Het
Klhl22 C A 16: 17,594,352 (GRCm39) D160E probably benign Het
Kpna6 T A 4: 129,551,264 (GRCm39) R80S probably benign Het
Lclat1 A G 17: 73,494,999 (GRCm39) E142G probably damaging Het
Lrig3 T C 10: 125,833,570 (GRCm39) Y349H probably benign Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,235,260 (GRCm39) probably null Het
Map1b T A 13: 99,568,437 (GRCm39) N1428I unknown Het
Map3k19 T A 1: 127,745,393 (GRCm39) T1354S possibly damaging Het
Med13l T A 5: 118,887,813 (GRCm39) W1696R probably damaging Het
Mfn1 T G 3: 32,588,471 (GRCm39) V66G probably benign Het
Mllt10 A T 2: 18,213,601 (GRCm39) Q459L possibly damaging Het
Morc2a G A 11: 3,625,885 (GRCm39) V162M probably benign Het
Muc15 C T 2: 110,564,243 (GRCm39) Q260* probably null Het
Nfkb1 T C 3: 135,300,718 (GRCm39) H616R probably damaging Het
Nr2c1 T A 10: 94,024,045 (GRCm39) W417R probably damaging Het
Or10a2 T C 7: 106,673,481 (GRCm39) S149P probably damaging Het
Or13a26 G T 7: 140,284,707 (GRCm39) C181F probably damaging Het
Or4g16 T C 2: 111,137,116 (GRCm39) C189R probably damaging Het
Or4k39 T C 2: 111,239,098 (GRCm39) Y113H probably damaging Het
Or5b121 A T 19: 13,507,202 (GRCm39) H99L probably damaging Het
Or8c10 C T 9: 38,278,862 (GRCm39) H7Y probably benign Het
Pde10a A G 17: 9,117,702 (GRCm39) D26G probably damaging Het
Pi15 G T 1: 17,691,726 (GRCm39) C176F probably damaging Het
Pou2f2 T A 7: 24,792,149 (GRCm39) T569S possibly damaging Het
Prf1 A C 10: 61,138,666 (GRCm39) E208A probably benign Het
Prkd1 G A 12: 50,441,709 (GRCm39) H277Y probably damaging Het
Rc3h1 T A 1: 160,786,993 (GRCm39) V796E probably benign Het
Rgl1 T C 1: 152,409,326 (GRCm39) Y503C probably damaging Het
Ripk3 T A 14: 56,023,808 (GRCm39) H1L probably benign Het
Ryr1 C T 7: 28,735,503 (GRCm39) D4064N probably damaging Het
Sec63 T A 10: 42,674,724 (GRCm39) probably null Het
Slco1a4 T G 6: 141,785,303 (GRCm39) M96L possibly damaging Het
Slit3 A T 11: 35,125,733 (GRCm39) R137S possibly damaging Het
Smad1 T C 8: 80,098,658 (GRCm39) E52G probably damaging Het
Srd5a2 A T 17: 74,328,476 (GRCm39) W201R probably damaging Het
Steap1 A T 5: 5,786,498 (GRCm39) L313Q probably damaging Het
Syt2 C A 1: 134,675,358 (GRCm39) A403D probably damaging Het
Tax1bp1 T A 6: 52,713,897 (GRCm39) S225R probably benign Het
Thap3 C T 4: 152,070,161 (GRCm39) V78M probably damaging Het
Thoc5 A G 11: 4,869,792 (GRCm39) K446R probably benign Het
Timmdc1 A C 16: 38,331,079 (GRCm39) probably null Het
Tm6sf2 G T 8: 70,531,580 (GRCm39) probably benign Het
Tmem126b G T 7: 90,125,179 (GRCm39) A2E probably damaging Het
Trim9 T A 12: 70,301,887 (GRCm39) R584W probably damaging Het
Ttn C A 2: 76,661,200 (GRCm39) probably benign Het
Vmn1r25 A T 6: 57,955,446 (GRCm39) I281N probably damaging Het
Wdr59 A G 8: 112,205,994 (GRCm39) F553S probably damaging Het
Zc3h4 A G 7: 16,163,505 (GRCm39) M575V unknown Het
Zfp53 A G 17: 21,729,766 (GRCm39) T600A probably damaging Het
Zic5 A G 14: 122,696,939 (GRCm39) S559P unknown Het
Other mutations in Angel2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01351:Angel2 APN 1 190,665,310 (GRCm39) missense probably benign 0.15
R0077:Angel2 UTSW 1 190,665,284 (GRCm39) missense possibly damaging 0.95
R0116:Angel2 UTSW 1 190,673,187 (GRCm39) missense probably benign 0.00
R0881:Angel2 UTSW 1 190,669,661 (GRCm39) missense probably damaging 1.00
R0891:Angel2 UTSW 1 190,677,270 (GRCm39) missense possibly damaging 0.92
R1530:Angel2 UTSW 1 190,671,285 (GRCm39) missense probably damaging 1.00
R1661:Angel2 UTSW 1 190,669,664 (GRCm39) missense probably damaging 1.00
R1670:Angel2 UTSW 1 190,674,360 (GRCm39) missense probably benign 0.12
R5175:Angel2 UTSW 1 190,673,081 (GRCm39) nonsense probably null
R5504:Angel2 UTSW 1 190,676,083 (GRCm39) missense probably damaging 1.00
R6020:Angel2 UTSW 1 190,665,068 (GRCm39) missense probably benign
R7194:Angel2 UTSW 1 190,677,194 (GRCm39) missense probably damaging 1.00
R7289:Angel2 UTSW 1 190,673,371 (GRCm39) missense possibly damaging 0.56
R8959:Angel2 UTSW 1 190,665,332 (GRCm39) missense probably damaging 0.96
R9723:Angel2 UTSW 1 190,671,342 (GRCm39) missense probably damaging 1.00
Z1088:Angel2 UTSW 1 190,669,751 (GRCm39) 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 On 2014-05-09