Mutagenetix > Incidental Mutation

Incidental Mutation 'R3500:Amhr2'

273779

Institutional Source

Beutler Lab

Gene Symbol

Amhr2

Ensembl Gene

ENSMUSG00000023047

Gene Name

anti-Mullerian hormone type 2 receptor

Synonyms

MISIIR, MIS TypeII receptor

MMRRC Submission

040663-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.849) question?

Stock #

R3500 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102353802-102363068 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102355501 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 188 (D188G)

Ref Sequence

ENSEMBL: ENSMUSP00000154968 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023809] [ENSMUST00000229278] [ENSMUST00000229566]

AlphaFold

Q8K592

Predicted Effect

probably benign
Transcript: ENSMUST00000023809
AA Change: D188G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000023809
Gene: ENSMUSG00000023047
AA Change: D188G

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 benign
Transcript: ENSMUST00000229278
AA Change: D188G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

Predicted Effect

probably benign
Transcript: ENSMUST00000229566

Meta Mutation Damage Score

0.1937

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.7%
20x: 96.2%

Validation Efficiency

98% (53/54)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arl15	G	A	13: 114,104,228 (GRCm39)	E102K	probably damaging	Het
Atp10d	C	T	5: 72,403,066 (GRCm39)	R319C	probably damaging	Het
Cetn4	A	T	3: 37,364,109 (GRCm39)	F34I	probably benign	Het
Chd8	G	T	14: 52,443,110 (GRCm39)	H510N	probably benign	Het
Chil5	T	C	3: 105,925,536 (GRCm39)	D157G	probably damaging	Het
Clcn1	T	C	6: 42,269,929 (GRCm39)	S251P	probably damaging	Het
Clstn3	A	T	6: 124,408,670 (GRCm39)	C881S	probably benign	Het
Cnot4	G	A	6: 35,057,076 (GRCm39)		probably benign	Het
Copg1	G	A	6: 87,872,905 (GRCm39)		probably benign	Het
Czib	C	T	4: 107,748,710 (GRCm39)	R83W	probably damaging	Het
Eftud2	A	G	11: 102,735,006 (GRCm39)	M631T	probably damaging	Het
Elavl3	A	G	9: 21,930,040 (GRCm39)	V288A	probably damaging	Het
Fancb	A	G	X: 163,779,104 (GRCm39)	T721A	probably damaging	Het
Fat2	A	G	11: 55,151,342 (GRCm39)	F3800S	probably damaging	Het
Fgd2	T	C	17: 29,584,575 (GRCm39)	V173A	possibly damaging	Het
Gabrr1	T	C	4: 33,158,184 (GRCm39)		probably benign	Het
Gata4	C	T	14: 63,437,982 (GRCm39)	G390S	possibly damaging	Het
Gm9396	C	A	3: 129,862,144 (GRCm39)		noncoding transcript	Het
Grid2	T	C	6: 63,480,383 (GRCm39)	S66P	probably damaging	Het
Hdac9	C	A	12: 34,487,352 (GRCm39)	M16I	probably benign	Het
Kmt2c	A	T	5: 25,504,477 (GRCm39)	D3610E	probably benign	Het
Lactb2	A	T	1: 13,730,673 (GRCm39)	M1K	probably null	Het
Ldhb	T	C	6: 142,447,173 (GRCm39)	D47G	probably damaging	Het
Map3k11	A	T	19: 5,740,275 (GRCm39)	M1L	probably benign	Het
Mecom	C	T	3: 30,035,061 (GRCm39)	R205H	probably damaging	Het
Mob1b	A	G	5: 88,897,479 (GRCm39)	D129G	probably benign	Het
Nbea	A	G	3: 55,588,431 (GRCm39)	V2436A	possibly damaging	Het
Neb	T	C	2: 52,215,797 (GRCm39)	N170S	probably damaging	Het
Nedd4l	G	A	18: 65,345,931 (GRCm39)	A848T	probably damaging	Het
Nr5a1	G	A	2: 38,597,952 (GRCm39)	R282*	probably null	Het
Or4c102	A	G	2: 88,422,285 (GRCm39)	T46A	probably damaging	Het
Or4c119	C	T	2: 88,987,403 (GRCm39)	G39R	probably damaging	Het
Or4d10c	A	G	19: 12,065,421 (GRCm39)	V245A	possibly damaging	Het
Or4f47	T	C	2: 111,972,472 (GRCm39)	F61L	possibly damaging	Het
Or52e2	T	C	7: 102,804,297 (GRCm39)	Y219C	probably damaging	Het
Pcdhb19	T	A	18: 37,630,532 (GRCm39)	L109*	probably null	Het
Plcg2	A	G	8: 118,339,717 (GRCm39)	M1043V	probably benign	Het
Podxl2	T	C	6: 88,819,900 (GRCm39)	D554G	probably damaging	Het
Ppp3ca	A	G	3: 136,587,273 (GRCm39)	T252A	probably benign	Het
Pramel6	A	G	2: 87,339,569 (GRCm39)	H111R	probably damaging	Het
Prr19	A	G	7: 25,002,692 (GRCm39)	E130G	probably damaging	Het
Rab44	C	T	17: 29,357,041 (GRCm39)	A57V	probably benign	Het
Rhbdl3	T	C	11: 80,210,531 (GRCm39)	F95L	probably damaging	Het
Sdk1	G	T	5: 141,992,371 (GRCm39)		probably benign	Het
Tas2r122	T	A	6: 132,688,523 (GRCm39)	K123N	probably damaging	Het
Tbpl2	C	T	2: 23,977,151 (GRCm39)	R289Q	probably benign	Het
Trpm2	A	G	10: 77,768,136 (GRCm39)	F788L	probably benign	Het
Ttn	G	A	2: 76,560,628 (GRCm39)	L29258F	probably damaging	Het
Ttn	G	T	2: 76,591,509 (GRCm39)	F19307L	possibly damaging	Het
Vmn2r23	T	C	6: 123,690,129 (GRCm39)	I335T	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- CCAAAGGTTGAAGCCTCCTC -3'
(R):5'- ACCTCCTTCCTGGATTACCTAGTAG -3'

Sequencing Primer
(F):5'- AGGCTCTGCTGATCCCC -3'
(R):5'- CCTTCCTGGATTACCTAGTAGAGAGG -3'

Posted On

2015-04-02