Incidental Mutation 'IGL01988:Ace2'
ID 182009
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ace2
Ensembl Gene ENSMUSG00000015405
Gene Name angiotensin converting enzyme 2
Synonyms 2010305L05Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.320) question?
Stock # IGL01988
Quality Score
Status
Chromosome X
Chromosomal Location 162922338-162971414 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 162946988 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 290 (N290K)
Ref Sequence ENSEMBL: ENSMUSP00000107890 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073973] [ENSMUST00000112271] [ENSMUST00000131543]
AlphaFold Q8R0I0
Predicted Effect possibly damaging
Transcript: ENSMUST00000073973
AA Change: N290K

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000073626
Gene: ENSMUSG00000015405
AA Change: N290K

DomainStartEndE-ValueType
low complexity region 2 11 N/A INTRINSIC
Pfam:Peptidase_M2 13 612 1.7e-204 PFAM
transmembrane domain 740 762 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000112271
AA Change: N290K

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000107890
Gene: ENSMUSG00000015405
AA Change: N290K

DomainStartEndE-ValueType
low complexity region 2 11 N/A INTRINSIC
Pfam:Peptidase_M2 19 606 1.1e-238 PFAM
Pfam:Collectrin 617 770 6e-75 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000131543
AA Change: N42K

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000123313
Gene: ENSMUSG00000015405
AA Change: N42K

DomainStartEndE-ValueType
Pfam:Peptidase_M2 3 364 1e-141 PFAM
transmembrane domain 492 514 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the angiotensin-converting enzyme family of dipeptidyl carboxydipeptidases and has considerable homology to human angiotensin 1 converting enzyme. This secreted protein catalyzes the cleavage of angiotensin I into angiotensin 1-9, and angiotensin II into the vasodilator angiotensin 1-7. The organ- and cell-specific expression of this gene suggests that it may play a role in the regulation of cardiovascular and renal function, as well as fertility. In addition, the encoded protein is a functional receptor for the spike glycoprotein of the human coronaviruses SARS and HCoV-NL63. [provided by RefSeq, Jul 2008]
PHENOTYPE: Targeted disruption of this locus results in reduced cardiac contractility. Male mice hemizygous for a knock-out allele exhibit increased susceptibility to induced colitis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik T A 10: 29,101,107 (GRCm39) S493R probably benign Het
Abca17 T C 17: 24,553,229 (GRCm39) N161D probably damaging Het
Adam26a G A 8: 44,022,207 (GRCm39) P428S possibly damaging Het
Adgrv1 T C 13: 81,705,428 (GRCm39) R1461G probably damaging Het
Arhgef10l T C 4: 140,305,672 (GRCm39) probably benign Het
Bicc1 A G 10: 70,792,006 (GRCm39) V334A probably damaging Het
C8a T C 4: 104,683,891 (GRCm39) Y408C probably damaging Het
Col24a1 T C 3: 145,229,922 (GRCm39) probably null Het
Copa T A 1: 171,945,831 (GRCm39) N931K probably benign Het
Cr1l A G 1: 194,799,858 (GRCm39) M272T probably damaging Het
Dcaf12 T C 4: 41,298,299 (GRCm39) N283S probably benign Het
Dnttip2 T A 3: 122,069,944 (GRCm39) S386R probably benign Het
Fbll1 G T 11: 35,688,728 (GRCm39) D178E probably benign Het
Fgd6 A G 10: 93,910,197 (GRCm39) probably benign Het
Fyn T A 10: 39,409,917 (GRCm39) L408* probably null Het
Gkn2 T C 6: 87,356,257 (GRCm39) V176A probably benign Het
Gm10764 G A 10: 87,126,953 (GRCm39) C120Y unknown Het
Gpr19 A T 6: 134,846,247 (GRCm39) F442I probably damaging Het
Herc1 A G 9: 66,395,357 (GRCm39) probably benign Het
Il7 A G 3: 7,669,126 (GRCm39) Y37H possibly damaging Het
Kcnj3 G A 2: 55,327,243 (GRCm39) D11N probably benign Het
Kif1c A G 11: 70,595,762 (GRCm39) D156G probably damaging Het
Lrch1 T C 14: 75,032,813 (GRCm39) probably benign Het
Nedd1 G T 10: 92,550,021 (GRCm39) T88K probably benign Het
Nlrc3 T G 16: 3,771,803 (GRCm39) S875R probably benign Het
Optc A G 1: 133,834,667 (GRCm39) probably null Het
Or4a78 T A 2: 89,497,424 (GRCm39) I269F probably benign Het
Pcdh17 T A 14: 84,684,062 (GRCm39) D176E probably damaging Het
Pde1b A G 15: 103,433,283 (GRCm39) probably null Het
Phf11a A T 14: 59,514,807 (GRCm39) D291E probably damaging Het
Slc30a8 A T 15: 52,198,601 (GRCm39) I349L probably benign Het
Spty2d1 T A 7: 46,647,358 (GRCm39) S524C probably damaging Het
Syndig1 T C 2: 149,845,090 (GRCm39) probably benign Het
Syvn1 G A 19: 6,102,437 (GRCm39) A502T probably benign Het
Tenm2 A G 11: 35,918,078 (GRCm39) L1894P probably damaging Het
Tmem176a T A 6: 48,819,554 (GRCm39) V11E possibly damaging Het
Tpr G T 1: 150,302,750 (GRCm39) probably null Het
Txnrd2 T C 16: 18,274,768 (GRCm39) probably benign Het
Ubqln3 G A 7: 103,792,089 (GRCm39) probably benign Het
Vmn1r6 C T 6: 56,979,650 (GRCm39) T82I probably damaging Het
Wdfy4 C T 14: 32,798,437 (GRCm39) E1990K possibly damaging Het
Zdhhc7 T C 8: 120,809,329 (GRCm39) R293G probably benign Het
Zeb1 T A 18: 5,759,037 (GRCm39) L148* probably null Het
Other mutations in Ace2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02037:Ace2 APN X 162,946,996 (GRCm39) missense probably damaging 1.00
IGL02090:Ace2 APN X 162,968,701 (GRCm39) missense probably damaging 1.00
IGL02183:Ace2 APN X 162,960,465 (GRCm39) splice site probably benign
R0554:Ace2 UTSW X 162,958,947 (GRCm39) missense probably benign 0.09
R1937:Ace2 UTSW X 162,939,524 (GRCm39) missense possibly damaging 0.71
R1939:Ace2 UTSW X 162,939,524 (GRCm39) missense possibly damaging 0.71
R1940:Ace2 UTSW X 162,939,524 (GRCm39) missense possibly damaging 0.71
R2107:Ace2 UTSW X 162,923,728 (GRCm39) missense probably benign 0.00
R2108:Ace2 UTSW X 162,923,728 (GRCm39) missense probably benign 0.00
R4052:Ace2 UTSW X 162,952,581 (GRCm39) missense probably benign 0.38
R4208:Ace2 UTSW X 162,952,581 (GRCm39) missense probably benign 0.38
R4656:Ace2 UTSW X 162,936,110 (GRCm39) missense probably benign
Posted On 2014-05-07