Incidental Mutation 'R3882:Amhr2'
| ID |
312828 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R3882 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
102353802-102363068 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 102354333 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 48
(G48D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154968
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023809]
[ENSMUST00000229278]
[ENSMUST00000229566]
|
| AlphaFold |
Q8K592 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023809
AA Change: G48D
PolyPhen 2
Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000023809
Gene: ENSMUSG00000023047
AA Change: G48D
| 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 |
probably damaging
Transcript: ENSMUST00000229278
AA Change: G48D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229566
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
97% (33/34) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acy1 |
G |
T |
9: 106,312,708 (GRCm39) |
T181K |
possibly damaging |
Het |
| Adcy4 |
A |
G |
14: 56,012,003 (GRCm39) |
F581L |
probably benign |
Het |
| Angptl4 |
G |
A |
17: 33,996,008 (GRCm39) |
P323S |
possibly damaging |
Het |
| Arhgef17 |
A |
G |
7: 100,525,661 (GRCm39) |
F1979S |
possibly damaging |
Het |
| Bltp2 |
T |
A |
11: 78,153,526 (GRCm39) |
W24R |
probably damaging |
Het |
| C2 |
T |
C |
17: 35,092,465 (GRCm39) |
T191A |
probably benign |
Het |
| Cmya5 |
T |
A |
13: 93,227,727 (GRCm39) |
T2454S |
probably benign |
Het |
| Dstn |
A |
G |
2: 143,784,107 (GRCm39) |
E150G |
probably benign |
Het |
| Dync1h1 |
G |
T |
12: 110,595,492 (GRCm39) |
V1444F |
probably benign |
Het |
| Eif3f |
T |
C |
7: 108,540,162 (GRCm39) |
V319A |
possibly damaging |
Het |
| Gpha2 |
T |
C |
19: 6,276,919 (GRCm39) |
|
probably null |
Het |
| Hps5 |
A |
G |
7: 46,421,420 (GRCm39) |
V648A |
possibly damaging |
Het |
| Jup |
A |
G |
11: 100,269,207 (GRCm39) |
V402A |
probably benign |
Het |
| Kif18a |
A |
G |
2: 109,137,319 (GRCm39) |
N517S |
probably benign |
Het |
| Kif20b |
T |
A |
19: 34,927,480 (GRCm39) |
I874N |
probably damaging |
Het |
| Lepr |
T |
A |
4: 101,672,462 (GRCm39) |
V1162E |
probably damaging |
Het |
| Man2a2 |
A |
T |
7: 80,012,063 (GRCm39) |
V698D |
possibly damaging |
Het |
| Miip |
A |
C |
4: 147,945,509 (GRCm39) |
S376A |
possibly damaging |
Het |
| Nsun7 |
G |
A |
5: 66,435,983 (GRCm39) |
R285Q |
probably damaging |
Het |
| Nup210l |
T |
C |
3: 90,031,517 (GRCm39) |
V281A |
probably benign |
Het |
| Paxip1 |
C |
T |
5: 27,953,837 (GRCm39) |
R953Q |
probably damaging |
Het |
| Pcdha8 |
C |
A |
18: 37,126,099 (GRCm39) |
L194I |
probably damaging |
Het |
| Pcdha8 |
A |
G |
18: 37,126,624 (GRCm39) |
I369V |
probably benign |
Het |
| Pcdhga10 |
C |
A |
18: 37,880,494 (GRCm39) |
A85E |
possibly damaging |
Het |
| Ppfibp1 |
A |
G |
6: 146,899,719 (GRCm39) |
R137G |
possibly damaging |
Het |
| Rcor1 |
C |
T |
12: 111,070,187 (GRCm39) |
A230V |
probably damaging |
Het |
| Scn3a |
T |
C |
2: 65,312,623 (GRCm39) |
M1191V |
probably benign |
Het |
| Skor2 |
A |
G |
18: 76,950,384 (GRCm39) |
D904G |
probably damaging |
Het |
| Suco |
A |
T |
1: 161,662,313 (GRCm39) |
V706E |
probably benign |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Vmn1r83 |
A |
T |
7: 12,055,329 (GRCm39) |
C243S |
probably damaging |
Het |
| Wdr17 |
A |
T |
8: 55,092,536 (GRCm39) |
C1083S |
possibly damaging |
Het |
| Zfp952 |
G |
T |
17: 33,220,949 (GRCm39) |
E18* |
probably null |
Het |
| Zfr |
G |
A |
15: 12,162,319 (GRCm39) |
R823H |
probably benign |
Het |
| Zscan25 |
G |
T |
5: 145,227,862 (GRCm39) |
G509C |
probably damaging |
Het |
|
| Other mutations in Amhr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02273:Amhr2
|
APN |
15 |
102,360,924 (GRCm39) |
missense |
probably benign |
0.02 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTGGGATCTGGACATCATG -3'
(R):5'- GGCTGCCTCCCTTAACCTAG -3'
Sequencing Primer
(F):5'- GATCTGGACATCATGTTTTGTCTATC -3'
(R):5'- TAGACACACCTCTACCCTAGATTCTC -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation