Incidental Mutation 'R7830:Angpt1'
ID 602396
Institutional Source Beutler Lab
Gene Symbol Angpt1
Ensembl Gene ENSMUSG00000022309
Gene Name angiopoietin 1
Synonyms Angiopoietin-1, 1110046O21Rik, Ang-1, ang1
MMRRC Submission 045884-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7830 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 42288119-42540373 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 42539664 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 65 (N65S)
Ref Sequence ENSEMBL: ENSMUSP00000022921 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022921]
AlphaFold O08538
Predicted Effect probably damaging
Transcript: ENSMUST00000022921
AA Change: N65S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000022921
Gene: ENSMUSG00000022309
AA Change: N65S

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
coiled coil region 194 254 N/A INTRINSIC
FBG 281 496 3.04e-132 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a secreted glycoprotein that belongs to the angiopoietin family of vascular growth factors. The encoded protein is a ligand in the vascular tyrosine kinase signaling pathway and regulates the formation and stabilization of blood vessels. This protein also functions in striated muscles by promoting proliferation, migration and differentiation of skeletal myoblasts and plays an essential role in the vascular response to tissue injury. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2013]
PHENOTYPE: Mice homozygous for disruptions in this gene display embryonic lethality by E12.5 and deficits in vascular development such as a reduction in vascular branching. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adat3 T C 10: 80,442,654 (GRCm39) L164P probably damaging Het
Aldh16a1 A T 7: 44,795,649 (GRCm39) L388Q probably damaging Het
Ankrd54 G A 15: 78,938,250 (GRCm39) T287I probably damaging Het
Bltp1 CCAGATTCATGTAGCA CCA 3: 37,019,081 (GRCm39) probably null Het
Cc2d2b T A 19: 40,753,801 (GRCm39) V108E possibly damaging Het
Cd200l1 A T 16: 45,262,917 (GRCm39) I187N probably damaging Het
Cntnap5c A T 17: 58,469,245 (GRCm39) D609V probably damaging Het
Col6a4 G T 9: 105,952,589 (GRCm39) D436E probably damaging Het
Cul9 A T 17: 46,851,237 (GRCm39) D394E probably benign Het
Cyfip1 A G 7: 55,523,210 (GRCm39) E75G probably damaging Het
Efr3a G A 15: 65,701,679 (GRCm39) V198I probably benign Het
Eif2ak2 C T 17: 79,173,832 (GRCm39) G249S probably damaging Het
Erich4 A T 7: 25,315,149 (GRCm39) M42K probably benign Het
Fig4 A C 10: 41,132,462 (GRCm39) V448G probably benign Het
Gas1 T C 13: 60,323,848 (GRCm39) D303G probably damaging Het
Golgb1 T G 16: 36,719,083 (GRCm39) Y330D possibly damaging Het
Gpr146 C T 5: 139,378,357 (GRCm39) A53V probably benign Het
Klk1b27 A C 7: 43,705,150 (GRCm39) M106L probably benign Het
Lipc T C 9: 70,720,183 (GRCm39) T190A probably damaging Het
Lrrc4b A G 7: 44,111,231 (GRCm39) I368V possibly damaging Het
Mmp10 A T 9: 7,507,284 (GRCm39) Q368L probably benign Het
Myo10 T A 15: 25,738,057 (GRCm39) Y501* probably null Het
Neb T A 2: 52,055,201 (GRCm39) H6445L probably benign Het
Numa1 T A 7: 101,648,492 (GRCm39) M741K probably benign Het
Nxn T A 11: 76,164,819 (GRCm39) I231F probably damaging Het
Or1j13 A G 2: 36,369,392 (GRCm39) L250P probably damaging Het
Or5b116 T C 19: 13,422,985 (GRCm39) L203S probably benign Het
Osbp2 A G 11: 3,813,414 (GRCm39) S152P probably benign Het
P3h4 T C 11: 100,304,869 (GRCm39) T173A probably damaging Het
Pcdh15 C A 10: 74,221,733 (GRCm39) R678S probably damaging Het
Pcdhb6 C A 18: 37,469,365 (GRCm39) T762K probably benign Het
Pnrc1 G A 4: 33,248,057 (GRCm39) P114L probably damaging Het
Ppp3ca T A 3: 136,574,481 (GRCm39) S126R probably damaging Het
Prl3d2 C T 13: 27,310,000 (GRCm39) T155I probably benign Het
Prune2 C A 19: 17,100,038 (GRCm39) N1847K probably benign Het
Psg21 A T 7: 18,381,223 (GRCm39) V440E probably damaging Het
Rag1 A G 2: 101,472,404 (GRCm39) S913P probably damaging Het
Rmc1 A G 18: 12,301,928 (GRCm39) N24S probably benign Het
Ros1 T A 10: 52,031,030 (GRCm39) H525L probably damaging Het
Scarb1 T C 5: 125,364,447 (GRCm39) Y94C probably damaging Het
Serpinb6a T G 13: 34,114,030 (GRCm39) D120A probably benign Het
Sik3 ACAGCAGCAGCAGCAGCAGCAGCAGCA ACAGCAGCAGCAGCAGCAGCAGCA 9: 46,123,355 (GRCm39) probably benign Het
Slc39a14 T C 14: 70,547,566 (GRCm39) D299G probably benign Het
Sox1 G A 8: 12,446,955 (GRCm39) A199T probably damaging Het
Strc T A 2: 121,205,530 (GRCm39) I867F probably damaging Het
Tfrc A G 16: 32,437,985 (GRCm39) K346R probably benign Het
Usf3 C T 16: 44,040,142 (GRCm39) Q1541* probably null Het
Wrn G A 8: 33,759,082 (GRCm39) L716F probably damaging Het
Zfp141 G A 7: 42,124,612 (GRCm39) T620I probably benign Het
Zfp354b A T 11: 50,814,136 (GRCm39) I263K probably benign Het
Zfp804b T A 5: 6,821,124 (GRCm39) E646D probably benign Het
Zfp970 G T 2: 177,167,338 (GRCm39) C304F probably damaging Het
Other mutations in Angpt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01761:Angpt1 APN 15 42,339,863 (GRCm39) missense possibly damaging 0.73
IGL02671:Angpt1 APN 15 42,539,790 (GRCm39) missense possibly damaging 0.79
IGL02876:Angpt1 APN 15 42,290,373 (GRCm39) missense possibly damaging 0.68
IGL03077:Angpt1 APN 15 42,339,818 (GRCm39) nonsense probably null
IGL03334:Angpt1 APN 15 42,359,808 (GRCm39) missense possibly damaging 0.94
R0226:Angpt1 UTSW 15 42,331,631 (GRCm39) missense probably benign 0.01
R1774:Angpt1 UTSW 15 42,387,012 (GRCm39) missense probably damaging 0.99
R1800:Angpt1 UTSW 15 42,375,800 (GRCm39) missense probably damaging 0.96
R1967:Angpt1 UTSW 15 42,301,703 (GRCm39) missense probably damaging 1.00
R4093:Angpt1 UTSW 15 42,386,941 (GRCm39) missense probably damaging 1.00
R4477:Angpt1 UTSW 15 42,331,560 (GRCm39) missense probably damaging 1.00
R4629:Angpt1 UTSW 15 42,301,796 (GRCm39) missense probably benign 0.01
R4647:Angpt1 UTSW 15 42,539,580 (GRCm39) missense probably benign 0.02
R4648:Angpt1 UTSW 15 42,539,580 (GRCm39) missense probably benign 0.02
R4750:Angpt1 UTSW 15 42,539,797 (GRCm39) missense probably benign 0.00
R5222:Angpt1 UTSW 15 42,539,730 (GRCm39) missense probably damaging 1.00
R5386:Angpt1 UTSW 15 42,301,761 (GRCm39) missense probably damaging 1.00
R5457:Angpt1 UTSW 15 42,386,916 (GRCm39) missense probably damaging 1.00
R5526:Angpt1 UTSW 15 42,375,737 (GRCm39) missense probably damaging 1.00
R6154:Angpt1 UTSW 15 42,387,051 (GRCm39) missense probably damaging 1.00
R6904:Angpt1 UTSW 15 42,323,136 (GRCm39) missense probably benign 0.00
R7009:Angpt1 UTSW 15 42,386,991 (GRCm39) missense possibly damaging 0.83
R7101:Angpt1 UTSW 15 42,386,965 (GRCm39) missense probably benign 0.18
R7139:Angpt1 UTSW 15 42,539,747 (GRCm39) missense probably damaging 1.00
R7234:Angpt1 UTSW 15 42,323,121 (GRCm39) missense probably benign 0.25
R8046:Angpt1 UTSW 15 42,359,752 (GRCm39) missense probably benign 0.00
R8073:Angpt1 UTSW 15 42,301,699 (GRCm39) missense probably benign 0.00
R8093:Angpt1 UTSW 15 42,339,873 (GRCm39) missense probably benign 0.01
R8331:Angpt1 UTSW 15 42,539,653 (GRCm39) missense probably damaging 1.00
R8391:Angpt1 UTSW 15 42,375,794 (GRCm39) missense probably damaging 1.00
R8411:Angpt1 UTSW 15 42,290,430 (GRCm39) missense probably damaging 1.00
R8508:Angpt1 UTSW 15 42,375,795 (GRCm39) missense probably damaging 1.00
R8787:Angpt1 UTSW 15 42,375,780 (GRCm39) missense probably damaging 1.00
R9297:Angpt1 UTSW 15 42,301,751 (GRCm39) missense probably benign
R9318:Angpt1 UTSW 15 42,301,751 (GRCm39) missense probably benign
R9746:Angpt1 UTSW 15 42,539,837 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ACCCAGGAAGTTGAGTCCAG -3'
(R):5'- AGCGCTGGCAGTACAATGAC -3'

Sequencing Primer
(F):5'- CCCTACGGAACTCTGAGCTC -3'
(R):5'- GGCAGTACAATGACAGTTTTCC -3'
Posted On 2019-12-03