Mutagenetix > Incidental Mutation

Incidental Mutation 'RF014:Amhr2'

603436

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: 0.849) question?

Stock #

RF014 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102353802-102363068 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 102361589 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 467 (S467C)

Ref Sequence

ENSEMBL: ENSMUSP00000023809 (fasta)

Gene Model

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

AlphaFold

Q8K592

Predicted Effect

probably benign
Transcript: ENSMUST00000023809
AA Change: S467C

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000023809
Gene: ENSMUSG00000023047
AA Change: S467C

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: ENSMUST00000162893

SMART Domains

Protein: ENSMUSP00000123735
Gene: ENSMUSG00000023047

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: ENSMUST00000229278

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.6%

Validation Efficiency

98% (49/50)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430401F13Rik	AGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	AGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,529,820 (GRCm39)		probably benign	Het
A2ml1	T	C	6: 128,547,031 (GRCm39)	N366S	probably damaging	Het
Abca5	T	C	11: 110,170,580 (GRCm39)		probably null	Het
Acaca	T	C	11: 84,122,550 (GRCm39)	V323A	probably benign	Het
Agbl3	T	A	6: 34,776,293 (GRCm39)	D266E	possibly damaging	Het
Aggf1	A	T	13: 95,507,276 (GRCm39)	S170T	possibly damaging	Het
Begain	GCCGCC	GCCGCCACCGCC	12: 108,999,348 (GRCm39)		probably benign	Het
Best3	A	T	10: 116,840,410 (GRCm39)	Q280L	probably damaging	Het
Calhm1	CTGTGGCTGTGG	CTGTGGCTGTGGGTGTGGCTGTGG	19: 47,129,704 (GRCm39)		probably benign	Het
Ccdc186	A	G	19: 56,801,904 (GRCm39)	L71S	probably benign	Het
Ces1d	C	A	8: 93,902,793 (GRCm39)		probably null	Het
Chga	AGC	AGCGGC	12: 102,527,652 (GRCm39)		probably benign	Het
Chga	AGC	AGCTGC	12: 102,527,664 (GRCm39)		probably benign	Het
Clstn3	T	A	6: 124,436,225 (GRCm39)	K212*	probably null	Het
Col16a1	TTTTT	TTTTTCTTTT	4: 129,986,860 (GRCm39)		probably benign	Het
Cpxm2	G	T	7: 131,672,592 (GRCm39)	T319K	possibly damaging	Het
Cyb5r4	TGCCCAGGGATGTGACAGACACAC	TGCCCAGGGATGTGACAGACACACCGCCCAGGGATGTGACAGACACAC	9: 86,922,468 (GRCm39)		probably benign	Het
Dst	T	C	1: 34,286,760 (GRCm39)	S3364P	probably benign	Het
Edc4	C	T	8: 106,611,232 (GRCm39)	T61M	probably benign	Het
Fndc5	A	G	4: 129,035,960 (GRCm39)	H199R	probably benign	Het
Gm43302	T	A	5: 105,422,623 (GRCm39)	I470F	possibly damaging	Het
Gne	G	T	4: 44,060,045 (GRCm39)	A147D	probably damaging	Het
Igkv12-89	G	GCAACGCCAC	6: 68,812,270 (GRCm39)		probably benign	Het
Irf9	C	T	14: 55,843,334 (GRCm39)	R179*	probably null	Het
Jakmip1	A	T	5: 37,331,870 (GRCm39)	K850M	possibly damaging	Het
Kalrn	G	A	16: 33,860,303 (GRCm39)	T1884I	probably benign	Het
Krtap28-10	CCACCACAGCCACAGCCACCACAGCCACAG	CCACCACAGCCACAGACACCACAGCCACAGCCACCACAGCCACAG	1: 83,019,972 (GRCm39)		probably benign	Het
Las1l	CTCCTCCTTCTCCTCTTCCTC	CTCCTC	X: 94,984,263 (GRCm39)		probably benign	Het
Lctl	A	G	9: 64,026,212 (GRCm39)	Y89C	probably damaging	Het
Lpgat1	GCC	GCCTCC	1: 191,450,665 (GRCm39)		probably benign	Het
Luzp2	A	T	7: 54,821,953 (GRCm39)	I157F	probably damaging	Het
Lyz3	A	G	10: 117,070,322 (GRCm39)	*152Q	probably null	Het
Mamld1	GCA	GCACCA	X: 70,162,451 (GRCm39)		probably benign	Het
Map1a	GCTCCAGCTCCAGCTCCAGCTCCA	GCTCCAGCTCCAGCTCCAGCTCCAGCTCCACCTCCAGCTCCAGCTCCAGCTCCA	2: 121,136,776 (GRCm39)		probably benign	Het
Mbd3l1	A	T	9: 18,396,296 (GRCm39)	E140D	possibly damaging	Het
Mlh3	T	A	12: 85,314,803 (GRCm39)	Q461L	probably benign	Het
Mto1	G	T	9: 78,355,598 (GRCm39)	R7L	probably benign	Het
Muc4	A	T	16: 32,570,676 (GRCm39)	S579C	probably damaging	Het
Ngfr	T	C	11: 95,469,027 (GRCm39)	Y117C	probably damaging	Het
Or10aa3	A	T	1: 173,878,553 (GRCm39)	I205F	possibly damaging	Het
Or13a23-ps1	A	T	7: 140,118,690 (GRCm39)	M87L	probably benign	Het
Or8d2b	C	A	9: 38,789,196 (GRCm39)	H241Q	probably benign	Het
Plch2	A	G	4: 155,091,577 (GRCm39)	S179P	probably damaging	Het
Pogz	T	G	3: 94,785,558 (GRCm39)	S838A	possibly damaging	Het
Polr1has	CACCACCACCAC	CACCACCACCACCACCACCACGACCACCACCAC	17: 37,275,952 (GRCm39)		probably benign	Het
Pot1b	T	A	17: 55,981,106 (GRCm39)	T303S	probably benign	Het
Pou2f2	T	A	7: 24,815,162 (GRCm39)	I72L	unknown	Het
Ptpn4	A	G	1: 119,612,195 (GRCm39)		probably null	Het
Ptprs	A	T	17: 56,723,935 (GRCm39)	I1686N	probably damaging	Het
Rfx4	CTCTCT	CTCTCTCTCTCTCTCTTTCTCT	10: 84,694,353 (GRCm39)		probably benign	Het
Rnf14	T	A	18: 38,442,623 (GRCm39)	V308E	probably damaging	Het
Setd1a	TGGTGGTGG	TGGTGGTGGGGGTGGTGG	7: 127,384,518 (GRCm39)		probably benign	Het
Sgo2b	T	C	8: 64,384,439 (GRCm39)	T186A	possibly damaging	Het
Six3	CGG	CGGTGG	17: 85,928,784 (GRCm39)		probably benign	Het
Six4	TG	T	12: 73,150,356 (GRCm39)		probably null	Het
Spmap2l	CAGCGATCCTCCCCAGTCCCGCA	CAGCGATCCTCCCCAGTCCCGCAGGGCGAGCGATCCTCCCCAGTCCCGCA	5: 77,164,247 (GRCm39)		probably benign	Het
Stox1	T	A	10: 62,500,025 (GRCm39)	H845L	probably benign	Het
Supt20	AGCAGC	AGCAGCGGCAGC	3: 54,635,086 (GRCm39)		probably benign	Het
Trappc9	A	AGCTGCTGCTGCTGCT	15: 72,673,132 (GRCm39)		probably benign	Het
Trim33	T	C	3: 103,236,408 (GRCm39)	V506A	possibly damaging	Het
Uckl1	T	C	2: 181,211,987 (GRCm39)	D373G	probably benign	Het
Vmn2r94	G	T	17: 18,473,549 (GRCm39)	C492*	probably null	Het
Wdr33	A	G	18: 32,014,326 (GRCm39)	D396G	probably damaging	Het
Ypel1	C	T	16: 16,915,282 (GRCm39)	V109M	probably damaging	Het
Zbtb11	A	T	16: 55,800,960 (GRCm39)	I105L	probably damaging	Het
Zbtb40	A	T	4: 136,744,617 (GRCm39)	C268S	probably benign	Het
Zfp36l1	T	A	12: 80,156,518 (GRCm39)	M288L	probably benign	Het
Zfp384	CC	CCAAGGCCCAGGAC	6: 125,013,429 (GRCm39)		probably benign	Het
Zfp87	A	G	13: 74,523,173 (GRCm39)	F15S	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
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
X0013:Amhr2	UTSW	15	102,361,187 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTCTACCCATAGTGTCCCAC -3'
(R):5'- GGTATGTGGGTGGAACCAAC -3'

Sequencing Primer
(F):5'- AGAAGGCTATGATCTCCCCTAG -3'
(R):5'- TGGAACCAACTGTGTGACACTTG -3'

Posted On

2019-12-04