Incidental Mutation 'IGL02273:Amhr2'
| ID |
287234 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Amhr2
|
| Ensembl Gene |
ENSMUSG00000023047 |
| Gene Name |
anti-Mullerian hormone type 2 receptor |
| Synonyms |
MISIIR, MIS TypeII receptor |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.851)
|
| Stock # |
IGL02273
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
102353802-102363068 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 102360924 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 353
(V353A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154968
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023809]
[ENSMUST00000229278]
|
| AlphaFold |
Q8K592 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023809
AA Change: V353A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000023809
Gene: ENSMUSG00000023047
AA Change: V353A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Activin_recp
|
46 |
124 |
3.4e-7 |
PFAM |
|
transmembrane domain
|
146 |
168 |
N/A |
INTRINSIC |
|
low complexity region
|
177 |
188 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
199 |
501 |
4.6e-25 |
PFAM |
|
Pfam:Pkinase_Tyr
|
199 |
501 |
2.6e-24 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158543
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161376
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000162893
AA Change: V69A
|
| SMART Domains |
Protein: ENSMUSP00000123735
Gene: ENSMUSG00000023047
AA Change: V69A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
3 |
73 |
2.4e-8 |
PFAM |
|
Pfam:Pkinase
|
6 |
84 |
1e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181328
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229278
AA Change: V353A
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the receptor for the anti-Mullerian hormone (AMH) which, in addition to testosterone, results in male sex differentiation. AMH and testosterone are produced in the testes by different cells and have different effects. Testosterone promotes the development of male genitalia while the binding of AMH to the encoded receptor prevents the development of the mullerian ducts into uterus and Fallopian tubes. Mutations in this gene are associated with persistent Mullerian duct syndrome type II. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygous null mutant males have a complete male reproductive tract, but also a uterus and oviducts. Functional sperm are produced, but most males are infertile because female reproductive organs block sperm transfer. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930451I11Rik |
T |
C |
7: 126,429,931 (GRCm39) |
T89A |
probably benign |
Het |
| Bbox1 |
A |
T |
2: 110,105,961 (GRCm39) |
Y194* |
probably null |
Het |
| Bltp1 |
T |
A |
3: 36,975,586 (GRCm39) |
|
probably benign |
Het |
| Bnipl |
C |
A |
3: 95,153,086 (GRCm39) |
R131L |
possibly damaging |
Het |
| Casp8ap2 |
T |
C |
4: 32,643,974 (GRCm39) |
S1016P |
probably damaging |
Het |
| Cblb |
A |
G |
16: 51,867,657 (GRCm39) |
I88M |
possibly damaging |
Het |
| Cyp24a1 |
A |
T |
2: 170,338,278 (GRCm39) |
Y89N |
probably damaging |
Het |
| Ddx25 |
G |
T |
9: 35,458,122 (GRCm39) |
N332K |
possibly damaging |
Het |
| Dnaaf5 |
C |
T |
5: 139,163,671 (GRCm39) |
Q348* |
probably null |
Het |
| Dnah3 |
A |
T |
7: 119,550,494 (GRCm39) |
I3264N |
probably damaging |
Het |
| Eml4 |
T |
A |
17: 83,763,808 (GRCm39) |
|
probably null |
Het |
| Farsa |
C |
T |
8: 85,594,455 (GRCm39) |
A368V |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,403,368 (GRCm39) |
Y40H |
probably damaging |
Het |
| Glt1d1 |
T |
A |
5: 127,734,208 (GRCm39) |
|
probably benign |
Het |
| Gm5422 |
A |
G |
10: 31,126,003 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr135 |
A |
G |
12: 72,116,732 (GRCm39) |
I345T |
probably damaging |
Het |
| Hmcn2 |
G |
A |
2: 31,314,389 (GRCm39) |
V3616I |
probably benign |
Het |
| Kif9 |
A |
T |
9: 110,339,538 (GRCm39) |
K460M |
probably damaging |
Het |
| Ldhd |
T |
C |
8: 112,353,922 (GRCm39) |
E426G |
probably benign |
Het |
| Mdh1 |
A |
T |
11: 21,509,786 (GRCm39) |
N196K |
probably benign |
Het |
| Nfkb1 |
A |
T |
3: 135,310,968 (GRCm39) |
C444S |
probably benign |
Het |
| Pfkfb2 |
G |
A |
1: 130,635,319 (GRCm39) |
R81C |
probably damaging |
Het |
| Pfpl |
T |
C |
19: 12,407,327 (GRCm39) |
V526A |
possibly damaging |
Het |
| Phf20l1 |
T |
A |
15: 66,511,874 (GRCm39) |
V951E |
probably damaging |
Het |
| Pik3cg |
A |
T |
12: 32,226,809 (GRCm39) |
L1026Q |
probably damaging |
Het |
| Pms1 |
T |
C |
1: 53,247,156 (GRCm39) |
N263S |
probably damaging |
Het |
| Prkcb |
T |
A |
7: 122,226,990 (GRCm39) |
F659I |
probably damaging |
Het |
| Prr14 |
A |
G |
7: 127,075,108 (GRCm39) |
I69M |
probably damaging |
Het |
| Rita1 |
C |
T |
5: 120,747,858 (GRCm39) |
A147T |
probably damaging |
Het |
| Senp5 |
T |
C |
16: 31,808,690 (GRCm39) |
H161R |
probably benign |
Het |
| Spc25 |
A |
G |
2: 69,035,273 (GRCm39) |
|
probably benign |
Het |
| Spty2d1 |
A |
G |
7: 46,647,321 (GRCm39) |
V536A |
probably damaging |
Het |
| Susd2 |
A |
G |
10: 75,476,772 (GRCm39) |
S84P |
possibly damaging |
Het |
| Tacc1 |
A |
C |
8: 25,649,797 (GRCm39) |
L768V |
probably damaging |
Het |
| Tbpl2 |
A |
T |
2: 23,986,531 (GRCm39) |
I5N |
probably benign |
Het |
| Tmc2 |
A |
G |
2: 130,071,126 (GRCm39) |
D285G |
probably damaging |
Het |
| Tns3 |
A |
T |
11: 8,384,531 (GRCm39) |
V1429E |
probably damaging |
Het |
| Trmt44 |
T |
C |
5: 35,731,457 (GRCm39) |
Y190C |
probably damaging |
Het |
| Ubr4 |
G |
A |
4: 139,199,889 (GRCm39) |
R4591H |
possibly damaging |
Het |
| Zfc3h1 |
T |
A |
10: 115,263,004 (GRCm39) |
D1739E |
probably benign |
Het |
| Zfp26 |
A |
G |
9: 20,352,744 (GRCm39) |
V107A |
probably damaging |
Het |
|
| Other mutations in Amhr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02941:Amhr2
|
APN |
15 |
102,355,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0269:Amhr2
|
UTSW |
15 |
102,355,503 (GRCm39) |
missense |
probably benign |
0.39 |
|
R0645:Amhr2
|
UTSW |
15 |
102,354,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1128:Amhr2
|
UTSW |
15 |
102,361,256 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1857:Amhr2
|
UTSW |
15 |
102,355,212 (GRCm39) |
nonsense |
probably null |
|
|
R3500:Amhr2
|
UTSW |
15 |
102,355,501 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3882:Amhr2
|
UTSW |
15 |
102,354,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4661:Amhr2
|
UTSW |
15 |
102,362,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4980:Amhr2
|
UTSW |
15 |
102,362,765 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5053:Amhr2
|
UTSW |
15 |
102,355,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7003:Amhr2
|
UTSW |
15 |
102,354,768 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7016:Amhr2
|
UTSW |
15 |
102,362,799 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7293:Amhr2
|
UTSW |
15 |
102,355,828 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7636:Amhr2
|
UTSW |
15 |
102,360,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8557:Amhr2
|
UTSW |
15 |
102,362,847 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9568:Amhr2
|
UTSW |
15 |
102,353,954 (GRCm39) |
missense |
probably benign |
0.26 |
|
RF014:Amhr2
|
UTSW |
15 |
102,361,589 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0013:Amhr2
|
UTSW |
15 |
102,361,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation