Mutagenetix > Incidental Mutation

Incidental Mutation 'R8557:Amhr2'

660185

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

068520-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.849) question?

Stock #

R8557 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102353802-102363068 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102362847 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 538 (Q538R)

Ref Sequence

ENSEMBL: ENSMUSP00000023809 (fasta)

Gene Model

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

AlphaFold

Q8K592

Predicted Effect

probably benign
Transcript: ENSMUST00000023809
AA Change: Q538R

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000023809
Gene: ENSMUSG00000023047
AA Change: Q538R

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

SMART Domains

Protein: ENSMUSP00000123735
Gene: ENSMUSG00000023047
AA Change: Q159R

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

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

probably benign
Transcript: ENSMUST00000229278

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (60/60)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	C	5: 64,055,954 (GRCm39)	V230A	probably benign	Het
Ablim2	A	T	5: 35,985,483 (GRCm39)	H260L	probably damaging	Het
Acp4	C	T	7: 43,905,272 (GRCm39)		probably null	Het
Acvr2b	G	T	9: 119,261,654 (GRCm39)	V416L	probably damaging	Het
Adipoq	A	T	16: 22,965,430 (GRCm39)		probably benign	Het
Apoh	C	T	11: 108,300,062 (GRCm39)	T237I	probably damaging	Het
Aspm	C	T	1: 139,384,494 (GRCm39)	T97I	probably benign	Het
Atg16l2	A	T	7: 100,939,863 (GRCm39)	H499Q	probably benign	Het
Bicdl2	G	A	17: 23,886,536 (GRCm39)	R375H	probably benign	Het
C3	T	C	17: 57,531,383 (GRCm39)	T304A	probably benign	Het
Cast	A	T	13: 74,852,301 (GRCm39)	D647E	probably damaging	Het
Chrm2	T	C	6: 36,501,010 (GRCm39)	V289A	probably benign	Het
Clock	T	C	5: 76,377,217 (GRCm39)	D694G	probably damaging	Het
Cyp4a31	C	T	4: 115,427,438 (GRCm39)	R215C	possibly damaging	Het
Dctn2	T	C	10: 127,114,062 (GRCm39)	L334P	probably damaging	Het
Dnah11	A	G	12: 117,842,247 (GRCm39)	I4444T	probably benign	Het
Egf	C	A	3: 129,548,600 (GRCm39)	R5L	unknown	Het
Ercc1	A	G	7: 19,082,480 (GRCm39)	N11S	probably benign	Het
Eri3	T	C	4: 117,472,520 (GRCm39)	S113P	possibly damaging	Het
Fasn	A	G	11: 120,706,610 (GRCm39)	V958A	probably benign	Het
Fgf10	A	G	13: 118,918,132 (GRCm39)	K140R	probably benign	Het
Gfra2	G	A	14: 71,214,737 (GRCm39)	M163I	probably benign	Het
Gm14403	T	C	2: 177,201,354 (GRCm39)	I191T	probably damaging	Het
Hdlbp	T	A	1: 93,341,219 (GRCm39)	E977D	probably damaging	Het
Hectd4	A	G	5: 121,448,714 (GRCm39)	N354S	possibly damaging	Het
Hpgds	A	T	6: 65,096,999 (GRCm39)	I170N	probably benign	Het
Limk2	A	G	11: 3,296,379 (GRCm39)	V356A	possibly damaging	Het
Map4	A	G	9: 109,893,370 (GRCm39)		probably null	Het
Mettl13	C	T	1: 162,371,921 (GRCm39)	G316D	possibly damaging	Het
Mia2	T	A	12: 59,148,274 (GRCm39)	L45I	probably damaging	Het
Mier1	T	A	4: 102,996,543 (GRCm39)		probably null	Het
Mob3a	G	T	10: 80,527,008 (GRCm39)	R106S	probably benign	Het
Mug2	T	A	6: 122,040,660 (GRCm39)	F737I	probably damaging	Het
Myo7a	C	T	7: 97,703,081 (GRCm39)	A2053T	probably benign	Het
Myrip	A	G	9: 120,246,252 (GRCm39)	S127G	probably benign	Het
Naaladl2	T	A	3: 24,262,528 (GRCm39)	K395I	probably benign	Het
Nedd4l	A	T	18: 65,336,986 (GRCm39)	M678L	probably benign	Het
Nefh	A	T	11: 4,891,233 (GRCm39)	I462N	probably damaging	Het
Nfe2	A	G	15: 103,157,025 (GRCm39)	M322T	probably benign	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or2z2	T	A	11: 58,346,562 (GRCm39)	D71V	probably damaging	Het
Or56b1	T	A	7: 104,285,103 (GRCm39)	V74E	possibly damaging	Het
Pkdcc	A	G	17: 83,528,495 (GRCm39)	N288S	probably benign	Het
Sacs	G	A	14: 61,444,725 (GRCm39)	C2257Y	probably damaging	Het
Sec23a	G	T	12: 59,052,056 (GRCm39)	Q90K	probably damaging	Het
Shisal2a	T	A	4: 108,225,085 (GRCm39)	N159I	probably benign	Het
Slc30a6	A	G	17: 74,712,685 (GRCm39)	T61A	possibly damaging	Het
Slc39a11	C	A	11: 113,141,385 (GRCm39)	A234S	probably damaging	Het
Smg6	C	A	11: 75,047,064 (GRCm39)	N1252K	probably damaging	Het
Spata2	A	T	2: 167,326,227 (GRCm39)	D197E	probably damaging	Het
Spen	C	T	4: 141,197,681 (GRCm39)	A3396T	probably benign	Het
Spocd1	T	C	4: 129,842,761 (GRCm39)	F59L	probably damaging	Het
Tectb	T	A	19: 55,181,105 (GRCm39)		probably benign	Het
Tnnc1	G	A	14: 30,932,562 (GRCm39)	V82I	probably damaging	Het
Traf7	A	T	17: 24,729,015 (GRCm39)	V513D	probably damaging	Het
Tut4	T	A	4: 108,399,908 (GRCm39)		probably null	Het
Vmn2r111	A	T	17: 22,790,910 (GRCm39)	Y129*	probably null	Het
Vrtn	T	A	12: 84,696,690 (GRCm39)	F480Y	probably benign	Het
Vwa8	A	T	14: 79,246,649 (GRCm39)	I664F	probably damaging	Het
Vwde	A	T	6: 13,193,136 (GRCm39)	V401E	probably damaging	Het
Zfp655	A	T	5: 145,180,835 (GRCm39)	N231I	probably benign	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
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
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'- AAGATTGCTGGGACGCAGAC -3'
(R):5'- CATTGATGAAGAGTGTGCGG -3'

Sequencing Primer
(F):5'- AGACCCAGAAGCACGGCTG -3'
(R):5'- CTGAGCATATCTACCCCATGG -3'

Posted On

2021-01-18