Mutagenetix > Incidental Mutation

Incidental Mutation 'R2055:Hsd17b2'

226595

Institutional Source

Beutler Lab

Gene Symbol

Hsd17b2

Ensembl Gene

ENSMUSG00000031844

Gene Name

hydroxysteroid (17-beta) dehydrogenase 2

Synonyms

17 HSD type 2

MMRRC Submission

040060-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2055 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118428643-118485766 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118428913 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 60 (L60P)

Ref Sequence

ENSEMBL: ENSMUSP00000034304 (fasta)

Gene Model

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

AlphaFold

P51658

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034304
AA Change: L60P

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000034304
Gene: ENSMUSG00000031844
AA Change: L60P

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

Predicted Effect

unknown
Transcript: ENSMUST00000212052
AA Change: L29P

Meta Mutation Damage Score

0.7162

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (74/74)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	T	C	5: 138,561,107 (GRCm39)	E185G	probably damaging	Het
3425401B19Rik	A	G	14: 32,384,508 (GRCm39)	S486P	probably benign	Het
A630023A22Rik	T	C	14: 33,774,707 (GRCm39)		probably benign	Het
Abca1	T	C	4: 53,069,881 (GRCm39)	N1271S	probably benign	Het
AI597479	C	T	1: 43,150,280 (GRCm39)	A130V	probably benign	Het
Angptl4	A	G	17: 33,999,498 (GRCm39)		probably null	Het
Arhgef25	T	A	10: 127,021,004 (GRCm39)	N294I	probably damaging	Het
Atp2b1	T	C	10: 98,850,421 (GRCm39)	V848A	probably damaging	Het
Bard1	T	C	1: 71,114,031 (GRCm39)	T317A	probably benign	Het
C1rl	T	C	6: 124,470,781 (GRCm39)	W30R	probably benign	Het
Cchcr1	A	G	17: 35,837,317 (GRCm39)	E379G	probably damaging	Het
Cfap36	G	T	11: 29,197,122 (GRCm39)	A3E	probably damaging	Het
Cilp	G	A	9: 65,186,997 (GRCm39)	G1031S	probably damaging	Het
Clca4a	A	G	3: 144,676,489 (GRCm39)	Y64H	probably damaging	Het
Cops5	A	G	1: 10,102,562 (GRCm39)		probably null	Het
Cracr2a	G	T	6: 127,585,564 (GRCm39)	E121*	probably null	Het
Cstf1	A	G	2: 172,222,403 (GRCm39)	E387G	probably benign	Het
D630044L22Rik	A	C	17: 26,180,951 (GRCm39)	D733E	probably damaging	Het
Dlc1	A	T	8: 37,060,535 (GRCm39)	C514S	probably damaging	Het
Dmwd	G	T	7: 18,810,610 (GRCm39)	R139L	probably benign	Het
Dnah17	A	T	11: 117,958,357 (GRCm39)	S2709T	probably benign	Het
Dnmt3a	T	C	12: 3,922,859 (GRCm39)	I154T	probably benign	Het
Dpp7	T	C	2: 25,244,490 (GRCm39)	N297S	possibly damaging	Het
Ern2	A	T	7: 121,783,168 (GRCm39)	V34D	possibly damaging	Het
Erp27	A	G	6: 136,885,227 (GRCm39)		probably benign	Het
F2	T	C	2: 91,458,787 (GRCm39)	T508A	probably benign	Het
Fam181b	A	G	7: 92,729,634 (GRCm39)	T136A	probably benign	Het
Fam227b	C	A	2: 125,942,874 (GRCm39)	V308L	probably benign	Het
Fbxw20	A	T	9: 109,050,442 (GRCm39)	H394Q	probably damaging	Het
G530012D18Rik	CAGAGAGA	CAGAGAGAGA	1: 85,504,945 (GRCm39)		probably null	Het
Glt8d1	T	G	14: 30,731,693 (GRCm39)	S111A	probably benign	Het
Gm11146	A	T	16: 77,391,969 (GRCm39)		probably benign	Het
Grip1	C	T	10: 119,885,416 (GRCm39)		probably benign	Het
H2-Q2	A	T	17: 35,564,247 (GRCm39)	T334S	probably benign	Het
Hcrtr1	A	G	4: 130,024,680 (GRCm39)	V402A	probably benign	Het
Hmcn2	C	A	2: 31,268,294 (GRCm39)	A1130D	probably benign	Het
Htr1f	A	T	16: 64,746,398 (GRCm39)	I298N	probably damaging	Het
Ighmbp2	G	T	19: 3,315,095 (GRCm39)	A775D	probably benign	Het
Kcnn3	A	G	3: 89,428,682 (GRCm39)	T303A	probably damaging	Het
Kiz	C	A	2: 146,733,203 (GRCm39)	Q460K	probably benign	Het
Krt75	C	T	15: 101,481,196 (GRCm39)	V193I	probably benign	Het
Lsp1	G	A	7: 142,043,144 (GRCm39)		probably null	Het
Mfsd12	A	G	10: 81,196,063 (GRCm39)	H146R	probably damaging	Het
Mmp23	T	C	4: 155,736,444 (GRCm39)	K199R	possibly damaging	Het
Naip2	A	G	13: 100,315,880 (GRCm39)	V300A	probably benign	Het
Nbeal1	C	T	1: 60,350,216 (GRCm39)	L2422F	probably damaging	Het
Nbeal2	G	T	9: 110,464,375 (GRCm39)	D1094E	possibly damaging	Het
Nckap5	T	C	1: 125,954,635 (GRCm39)	E639G	probably damaging	Het
Nr4a3	A	G	4: 48,067,771 (GRCm39)	I456V	possibly damaging	Het
Or2t43	A	G	11: 58,457,673 (GRCm39)	F166S	probably damaging	Het
Parp9	G	T	16: 35,773,984 (GRCm39)	V86L	probably damaging	Het
Phactr1	A	G	13: 43,231,416 (GRCm39)	N386S	probably damaging	Het
Pold2	A	T	11: 5,823,516 (GRCm39)	Y304*	probably null	Het
Pou5f2	A	G	13: 78,173,940 (GRCm39)	Y294C	probably benign	Het
Rars1	A	G	11: 35,717,410 (GRCm39)		probably benign	Het
Rbm12b1	A	G	4: 12,145,606 (GRCm39)	E526G	probably benign	Het
Sacs	T	C	14: 61,451,498 (GRCm39)	Y4515H	probably damaging	Het
Sdk2	C	A	11: 113,741,780 (GRCm39)	R813L	probably damaging	Het
Six5	T	C	7: 18,829,154 (GRCm39)	V198A	possibly damaging	Het
Slco1a7	A	T	6: 141,671,181 (GRCm39)	H430Q	probably benign	Het
Spata31e2	A	T	1: 26,724,813 (GRCm39)	N122K	possibly damaging	Het
Spn	A	G	7: 126,736,388 (GRCm39)	S40P	probably damaging	Het
Ssr1	A	G	13: 38,171,761 (GRCm39)		probably benign	Het
Tlr6	C	A	5: 65,111,269 (GRCm39)	C546F	probably damaging	Het
Top1	T	A	2: 160,544,748 (GRCm39)		probably benign	Het
Trhr2	A	G	8: 123,085,532 (GRCm39)	S151P	probably damaging	Het
Tubb2b	T	G	13: 34,311,708 (GRCm39)	K362Q	probably benign	Het
Unc13c	T	C	9: 73,643,832 (GRCm39)	T1211A	probably damaging	Het
Vmn1r15	T	C	6: 57,235,729 (GRCm39)	V199A	possibly damaging	Het
Vnn1	A	G	10: 23,776,475 (GRCm39)		probably benign	Het
Vps41	T	A	13: 19,038,786 (GRCm39)	N737K	possibly damaging	Het
Vps50	T	A	6: 3,522,265 (GRCm39)	N144K	probably benign	Het
Zc3h7a	A	T	16: 10,955,340 (GRCm39)	N911K	probably benign	Het
Zkscan7	T	A	9: 122,718,002 (GRCm39)	S132R	probably damaging	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
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
R8875:Hsd17b2	UTSW	8	118,469,101 (GRCm39)	missense	possibly damaging	0.91
R9713:Hsd17b2	UTSW	8	118,485,342 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGTGGAGAATGAGCCCGTTTG -3'
(R):5'- ATGTGCTGCCTGTCATTCAC -3'

Sequencing Primer
(F):5'- GAATGAGCCCGTTTGCCTCTG -3'
(R):5'- GTGCTGCCTGTCATTCACTCTAAG -3'

Posted On

2014-09-17