Mutagenetix > Incidental Mutation

Incidental Mutation 'R8875:Hsd17b2'

676526

Institutional Source

Beutler Lab

Gene Symbol

Hsd17b2

Ensembl Gene

ENSMUSG00000031844

Gene Name

hydroxysteroid (17-beta) dehydrogenase 2

Synonyms

17 HSD type 2

MMRRC Submission

068687-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8875 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118428643-118485766 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118469101 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 171 (V171A)

Ref Sequence

ENSEMBL: ENSMUSP00000034304 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034304]

AlphaFold

P51658

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034304
AA Change: V171A

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000034304
Gene: ENSMUSG00000031844
AA Change: V171A

Domain	Start	End	E-Value	Type
transmembrane domain	10	27	N/A	INTRINSIC
transmembrane domain	40	62	N/A	INTRINSIC
Pfam:adh_short	84	279	1.3e-48	PFAM
Pfam:KR	85	263	3.6e-7	PFAM
Pfam:DUF1776	85	361	3.2e-13	PFAM
Pfam:adh_short_C2	89	288	1.5e-13	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (49/49)

MGI Phenotype

PHENOTYPE: Mice homozygous for disruptions in this gene display embryonic lethality starting at E11.5 and placenta defects. The few mutants that survive to birth exhibit enlarged brain ventricles, cerebral cortex abnormalities and a single kidney. [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
0610010K14Rik	A	G	11: 70,126,380 (GRCm39)	V140A		Het
Ablim1	G	T	19: 57,119,386 (GRCm39)	H233N	probably benign	Het
Adra1a	A	T	14: 66,875,214 (GRCm39)	Y63F	possibly damaging	Het
Ank3	A	G	10: 69,660,233 (GRCm39)	D245G	unknown	Het
Ap4e1	T	C	2: 126,877,100 (GRCm39)	I279T	probably damaging	Het
Bap1	T	G	14: 30,975,522 (GRCm39)	F122C	probably damaging	Het
Cdc5l	T	C	17: 45,703,915 (GRCm39)		probably benign	Het
Chd2	A	T	7: 73,151,783 (GRCm39)	I309N	probably damaging	Het
Cnpy3	T	C	17: 47,048,185 (GRCm39)	I177V	probably damaging	Het
Cp	A	G	3: 20,027,994 (GRCm39)	K467E	possibly damaging	Het
D630039A03Rik	T	G	4: 57,910,320 (GRCm39)	N164T	probably benign	Het
Dnah7a	C	A	1: 53,682,682 (GRCm39)	A263S	probably benign	Het
Eif2s1	G	A	12: 78,913,461 (GRCm39)	R54Q	probably damaging	Het
Fasn	A	T	11: 120,703,224 (GRCm39)	D1600E	possibly damaging	Het
Fat1	T	A	8: 45,493,600 (GRCm39)	F3915L	probably damaging	Het
Fiz1	A	T	7: 5,012,093 (GRCm39)	S142T	probably benign	Het
Fnip1	A	G	11: 54,406,380 (GRCm39)	Y1159C	probably damaging	Het
Fsip2	T	A	2: 82,820,782 (GRCm39)	V5505D	possibly damaging	Het
Gabrg3	A	G	7: 56,379,514 (GRCm39)	M296T	probably damaging	Het
Gm11562	A	T	11: 99,511,177 (GRCm39)	S8T	unknown	Het
Hoxd11	A	G	2: 74,513,365 (GRCm39)	D210G	probably benign	Het
Ifi206	T	C	1: 173,301,353 (GRCm39)	Y775C	unknown	Het
Nherf2	T	A	17: 24,866,703 (GRCm39)		probably null	Het
Nr2f1	A	C	13: 78,337,970 (GRCm39)	I382S	probably damaging	Het
Nrp1	T	A	8: 129,207,472 (GRCm39)		probably null	Het
Or51l4	G	A	7: 103,404,462 (GRCm39)	S110F	probably damaging	Het
Or52h7	A	G	7: 104,213,670 (GRCm39)	T81A	probably benign	Het
Pdcd1	C	T	1: 93,967,092 (GRCm39)	D269N	probably benign	Het
Pira12	A	G	7: 3,897,256 (GRCm39)	S527P	probably damaging	Het
Plbd2	A	G	5: 120,637,121 (GRCm39)	Y114H	probably damaging	Het
Plch1	A	G	3: 63,618,391 (GRCm39)	C715R	probably damaging	Het
Plin4	G	A	17: 56,411,010 (GRCm39)	A1007V	probably benign	Het
Ptprs	G	T	17: 56,742,946 (GRCm39)	P399T	probably damaging	Het
Pum1	T	A	4: 130,507,186 (GRCm39)	I1181N	possibly damaging	Het
Qrich1	A	G	9: 108,436,502 (GRCm39)		probably benign	Het
Rbm12	T	C	2: 155,938,841 (GRCm39)	E477G	probably damaging	Het
Rpl7	T	C	1: 16,173,753 (GRCm39)	K57R	probably benign	Het
Spata31h1	G	A	10: 82,123,476 (GRCm39)	A3178V	probably benign	Het
Stab2	C	T	10: 86,832,728 (GRCm39)	C99Y	probably damaging	Het
Tas1r1	T	A	4: 152,113,047 (GRCm39)	T669S	probably benign	Het
Tle5	A	T	10: 81,400,534 (GRCm39)	I73F	probably benign	Het
Tm2d2	T	C	8: 25,507,443 (GRCm39)	L20P	possibly damaging	Het
Tmem158	G	T	9: 123,089,132 (GRCm39)	A160E	possibly damaging	Het
Tpst2	T	A	5: 112,457,714 (GRCm39)	Y347*	probably null	Het
Trpm3	T	C	19: 22,887,493 (GRCm39)	I876T	probably damaging	Het
Ttc6	T	C	12: 57,751,199 (GRCm39)	F1364L	probably damaging	Het
Ttc6	T	A	12: 57,776,194 (GRCm39)	S1713T	possibly damaging	Het
Vmn2r85	A	G	10: 130,254,171 (GRCm39)	S838P	probably damaging	Het
Zc2hc1c	T	C	12: 85,336,549 (GRCm39)	S69P	possibly damaging	Het
Zfp982	C	A	4: 147,595,320 (GRCm39)	N47K	probably benign	Het

Other mutations in Hsd17b2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Hsd17b2	APN	8	118,485,410 (GRCm39)	missense	probably damaging	0.98
IGL00907:Hsd17b2	APN	8	118,461,433 (GRCm39)	missense	probably benign	0.00
R0664:Hsd17b2	UTSW	8	118,485,440 (GRCm39)	missense	possibly damaging	0.67
R1506:Hsd17b2	UTSW	8	118,429,004 (GRCm39)	critical splice donor site	probably null
R1627:Hsd17b2	UTSW	8	118,428,909 (GRCm39)	missense	possibly damaging	0.53
R1822:Hsd17b2	UTSW	8	118,485,488 (GRCm39)	missense	possibly damaging	0.47
R1930:Hsd17b2	UTSW	8	118,485,643 (GRCm39)	missense	possibly damaging	0.56
R2055:Hsd17b2	UTSW	8	118,428,913 (GRCm39)	missense	possibly damaging	0.96
R3159:Hsd17b2	UTSW	8	118,485,491 (GRCm39)	missense	probably damaging	1.00
R6536:Hsd17b2	UTSW	8	118,428,921 (GRCm39)	missense	possibly damaging	0.96
R8074:Hsd17b2	UTSW	8	118,485,440 (GRCm39)	missense	possibly damaging	0.67
R8310:Hsd17b2	UTSW	8	118,469,155 (GRCm39)	missense	probably damaging	0.99
R9713:Hsd17b2	UTSW	8	118,485,342 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- TGGTTTGCGTACATAGGAAGAG -3'
(R):5'- AGTACATGTCTTGTAGCAGGTGC -3'

Sequencing Primer
(F):5'- CGTACATAGGAAGAGACCAAGTTTG -3'
(R):5'- CTTGTAGCAGGTGCCCAGTG -3'

Posted On

2021-07-15