Mutagenetix > Incidental Mutation

Incidental Mutation 'R4661:Amhr2'

352885

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

041600-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.851) question?

Stock #

R4661 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102353802-102363068 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 102362688 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 485 (D485V)

Ref Sequence

ENSEMBL: ENSMUSP00000023809 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023809] [ENSMUST00000023810] [ENSMUST00000164938] [ENSMUST00000164957] [ENSMUST00000171245] [ENSMUST00000229278]

AlphaFold

Q8K592

Predicted Effect

probably damaging
Transcript: ENSMUST00000023809
AA Change: D485V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000023809
Gene: ENSMUSG00000023047
AA Change: D485V

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: ENSMUST00000023810

SMART Domains

Protein: ENSMUSP00000023810
Gene: ENSMUSG00000023048

Domain	Start	End	E-Value	Type
low complexity region	22	48	N/A	INTRINSIC
low complexity region	50	85	N/A	INTRINSIC
low complexity region	102	136	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158543

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161376

Predicted Effect

unknown
Transcript: ENSMUST00000162893
AA Change: D106V

SMART Domains

Protein: ENSMUSP00000123735
Gene: ENSMUSG00000023047
AA Change: D106V

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	3	73	2.4e-8	PFAM
Pfam:Pkinase	6	84	1e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164938

SMART Domains

Protein: ENSMUSP00000129218
Gene: ENSMUSG00000023048

Domain	Start	End	E-Value	Type
low complexity region	22	48	N/A	INTRINSIC
low complexity region	50	79	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164957

SMART Domains

Protein: ENSMUSP00000125784
Gene: ENSMUSG00000023048

Domain	Start	End	E-Value	Type
low complexity region	22	48	N/A	INTRINSIC
low complexity region	50	85	N/A	INTRINSIC
low complexity region	102	136	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181328

Predicted Effect

probably benign
Transcript: ENSMUST00000171245

SMART Domains

Protein: ENSMUSP00000132636
Gene: ENSMUSG00000023048

Domain	Start	End	E-Value	Type
low complexity region	22	48	N/A	INTRINSIC
low complexity region	50	85	N/A	INTRINSIC
low complexity region	102	136	N/A	INTRINSIC

Predicted Effect

silent
Transcript: ENSMUST00000229278

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	T	C	9: 44,198,627 (GRCm39)	N42D	probably damaging	Het
Adamdec1	G	A	14: 68,807,562 (GRCm39)	T366I	probably damaging	Het
Adamts7	C	A	9: 90,075,383 (GRCm39)	H1038Q	probably benign	Het
Aff3	T	C	1: 38,666,209 (GRCm39)	D5G	possibly damaging	Het
Arhgap35	A	T	7: 16,298,663 (GRCm39)	F134Y	probably damaging	Het
Asxl3	A	G	18: 22,649,534 (GRCm39)	T508A	probably benign	Het
Atp10a	TGGCGGCGGC	TGGCGGC	7: 58,308,248 (GRCm39)		probably benign	Het
Atp4a	G	A	7: 30,419,650 (GRCm39)	R671Q	probably benign	Het
Atp9a	A	G	2: 168,479,592 (GRCm39)	F928L	possibly damaging	Het
BC034090	A	T	1: 155,108,221 (GRCm39)	D13E	probably damaging	Het
Bco1	A	G	8: 117,855,980 (GRCm39)	E425G	probably benign	Het
Brsk1	T	C	7: 4,710,298 (GRCm39)	S436P	possibly damaging	Het
C1s1	T	C	6: 124,513,449 (GRCm39)	I193V	probably benign	Het
Calb2	A	G	8: 110,894,709 (GRCm39)	F21L	probably benign	Het
Catsperz	T	G	19: 6,902,171 (GRCm39)	T108P	probably benign	Het
Cep57l1	T	A	10: 41,595,767 (GRCm39)	D329V	possibly damaging	Het
Cfdp1	A	G	8: 112,557,577 (GRCm39)	F188S	probably benign	Het
Chrna2	G	A	14: 66,386,292 (GRCm39)	G146D	probably damaging	Het
Col6a1	A	C	10: 76,550,506 (GRCm39)	F520V	unknown	Het
Cyb5d2	C	A	11: 72,669,771 (GRCm39)	V43L	probably damaging	Het
Cyp2c40	T	C	19: 39,775,290 (GRCm39)	T321A	probably benign	Het
Dnajc16	A	C	4: 141,490,859 (GRCm39)	Y764D	probably damaging	Het
Dsg1a	G	A	18: 20,473,590 (GRCm39)	V888M	probably damaging	Het
F5	A	C	1: 164,012,489 (GRCm39)	T468P	probably damaging	Het
Faap24	A	G	7: 35,094,509 (GRCm39)	M97T	probably benign	Het
Fam227b	A	T	2: 125,849,230 (GRCm39)	I334N	probably damaging	Het
Frem2	G	T	3: 53,562,864 (GRCm39)	P548T	probably damaging	Het
Gfm1	A	G	3: 67,340,731 (GRCm39)	E94G	probably damaging	Het
Gm17606	A	T	14: 54,885,696 (GRCm39)		probably benign	Het
Gnb2	A	T	5: 137,528,515 (GRCm39)	M1K	probably null	Het
Gys1	G	A	7: 45,104,258 (GRCm39)	A544T	probably damaging	Het
Hdac5	T	C	11: 102,096,675 (GRCm39)	Y230C	probably damaging	Het
Hunk	A	T	16: 90,244,196 (GRCm39)		probably null	Het
Ifnl2	A	G	7: 28,209,635 (GRCm39)	F51L	probably damaging	Het
Itpr1	T	C	6: 108,387,892 (GRCm39)		probably null	Het
Kcnj1	A	G	9: 32,307,918 (GRCm39)	Y114C	probably benign	Het
Kdm4b	T	A	17: 56,706,459 (GRCm39)	S322T	probably damaging	Het
Kif27	T	C	13: 58,471,730 (GRCm39)	E786G	probably damaging	Het
Kif6	T	C	17: 50,060,909 (GRCm39)	V414A	probably benign	Het
L1td1	A	G	4: 98,621,861 (GRCm39)	K141R	possibly damaging	Het
Loxhd1	A	G	18: 77,490,581 (GRCm39)	I1394V	possibly damaging	Het
Lrfn5	A	T	12: 61,886,433 (GRCm39)	M74L	probably damaging	Het
Lrp6	C	T	6: 134,488,230 (GRCm39)	D289N	probably benign	Het
Mroh7	A	G	4: 106,548,710 (GRCm39)		probably null	Het
Muc4	A	C	16: 32,589,651 (GRCm39)	E2885A	possibly damaging	Het
Myo18b	G	T	5: 113,023,041 (GRCm39)		probably benign	Het
Ncln	G	A	10: 81,328,902 (GRCm39)	A172V	probably damaging	Het
Nek9	G	A	12: 85,367,666 (GRCm39)	T335M	possibly damaging	Het
Notch2	A	G	3: 98,042,829 (GRCm39)	Y1398C	probably damaging	Het
Or10g6	A	T	9: 39,933,823 (GRCm39)	I45F	probably damaging	Het
Or2d4	T	A	7: 106,544,074 (GRCm39)	I45F	probably damaging	Het
Or5p52	A	T	7: 107,502,188 (GRCm39)	H88L	probably benign	Het
Pax2	G	A	19: 44,749,376 (GRCm39)	V40M	probably damaging	Het
Pde6c	A	G	19: 38,157,887 (GRCm39)	Y637C	probably damaging	Het
Plppr5	A	G	3: 117,414,618 (GRCm39)	I80V	probably damaging	Het
Pold1	G	T	7: 44,182,233 (GRCm39)	P1100T	probably damaging	Het
Prune2	T	C	19: 16,977,387 (GRCm39)	Y41H	probably damaging	Het
Rgl2	C	T	17: 34,152,200 (GRCm39)	A329V	possibly damaging	Het
Rilp	T	A	11: 75,402,250 (GRCm39)	Y250N	probably damaging	Het
Rilpl1	A	G	5: 124,652,751 (GRCm39)	V19A	probably benign	Het
Rtp3	T	C	9: 110,815,519 (GRCm39)		probably null	Het
Rufy4	A	G	1: 74,172,266 (GRCm39)	K246E	probably damaging	Het
Saraf	C	A	8: 34,635,616 (GRCm39)	A306E	probably damaging	Het
Slc26a8	A	T	17: 28,857,658 (GRCm39)	N828K	probably benign	Het
Src	C	T	2: 157,311,852 (GRCm39)	P527S	probably damaging	Het
Susd3	C	T	13: 49,384,778 (GRCm39)		probably null	Het
Syngap1	T	C	17: 27,185,880 (GRCm39)	L1270P	probably damaging	Het
Taf1c	G	A	8: 120,325,589 (GRCm39)	P758S	probably damaging	Het
Tenm2	A	T	11: 35,915,275 (GRCm39)	N2087K	probably damaging	Het
Tfrc	A	T	16: 32,448,969 (GRCm39)	I703F	probably damaging	Het
Thap1	C	G	8: 26,650,874 (GRCm39)	T48S	probably benign	Het
Tspear	T	C	10: 77,702,163 (GRCm39)	F199L	probably benign	Het
Usp17lc	A	T	7: 103,067,797 (GRCm39)	H364L	probably benign	Het
Usp9x	A	G	X: 12,989,747 (GRCm39)	R776G	possibly damaging	Homo
Vmn1r1	T	C	1: 181,984,789 (GRCm39)	E292G	possibly damaging	Het
Vmn1r125	T	G	7: 21,006,552 (GRCm39)	V150G	probably damaging	Het
Vmn1r167	A	T	7: 23,204,117 (GRCm39)	L300I	probably damaging	Het
Vmn2r106	A	C	17: 20,487,885 (GRCm39)	I838S	probably benign	Het
Wdr64	A	T	1: 175,554,060 (GRCm39)	S197C	probably damaging	Het
Zfp248	A	T	6: 118,410,268 (GRCm39)	V47E	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
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
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'- AGGAGTGGTGAGACATGCTC -3'
(R):5'- AACAGTGTCGCCTACAGGATC -3'

Sequencing Primer
(F):5'- CTCTTAGCAAGGACTCCGTG -3'
(R):5'- CCTTGCTGAACACTGAGGAGAC -3'

Posted On

2015-10-08