Mutagenetix > Incidental Mutation

Incidental Mutation 'R8074:Hsd17b2'

620418

Institutional Source

Beutler Lab

Gene Symbol

Hsd17b2

Ensembl Gene

ENSMUSG00000031844

Gene Name

hydroxysteroid (17-beta) dehydrogenase 2

Synonyms

17 HSD type 2

MMRRC Submission

067508-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8074 (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 118485440 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 301 (V301A)

Ref Sequence

ENSEMBL: ENSMUSP00000034304 (fasta)

Gene Model

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

AlphaFold

P51658

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034304
AA Change: V301A

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000034304
Gene: ENSMUSG00000031844
AA Change: V301A

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (62/63)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,829,320 (GRCm39)	I1380L	probably benign	Het
Adcy3	T	C	12: 4,184,420 (GRCm39)	V32A	probably benign	Het
Ano3	T	A	2: 110,780,577 (GRCm39)		probably benign	Het
Arhgef12	G	A	9: 42,882,399 (GRCm39)	R1482*	probably null	Het
Cd300lg	T	G	11: 101,932,427 (GRCm39)	L4R	probably damaging	Het
Cfap57	T	A	4: 118,426,822 (GRCm39)	K1072M	possibly damaging	Het
Clasp1	G	T	1: 118,390,213 (GRCm39)	M132I	probably benign	Het
Clec18a	T	G	8: 111,798,230 (GRCm39)	D489A	probably damaging	Het
Cngb1	A	G	8: 95,978,801 (GRCm39)	S551P		Het
Efna4	G	A	3: 89,242,633 (GRCm39)	T87M	probably benign	Het
Fam229b	T	C	10: 38,996,255 (GRCm39)	R42G	probably null	Het
Gm17175	C	T	14: 51,809,080 (GRCm39)	M95I	probably damaging	Het
Grk4	A	G	5: 34,833,482 (GRCm39)	E96G	probably benign	Het
Helb	A	C	10: 119,925,321 (GRCm39)	F1019V	probably benign	Het
Htr1b	A	G	9: 81,513,582 (GRCm39)	F342L	probably benign	Het
Idua	C	A	5: 108,828,441 (GRCm39)	A265E	possibly damaging	Het
Jup	T	G	11: 100,277,113 (GRCm39)	T32P	probably damaging	Het
Kidins220	A	G	12: 25,107,715 (GRCm39)	K1632E	probably benign	Het
Lef1	G	A	3: 130,997,954 (GRCm39)		probably null	Het
Lypla2	A	G	4: 135,697,112 (GRCm39)		probably null	Het
Mall	A	G	2: 127,571,785 (GRCm39)	M1T	probably null	Het
Mettl25	G	T	10: 105,661,941 (GRCm39)	A343E	probably benign	Het
Mpdz	T	C	4: 81,267,324 (GRCm39)	N940S	probably benign	Het
Nsun4	A	T	4: 115,908,631 (GRCm39)	V643D	possibly damaging	Het
Nupr1	A	T	7: 126,224,109 (GRCm39)	F70Y	possibly damaging	Het
Or1e17	T	A	11: 73,831,213 (GRCm39)	V47D	possibly damaging	Het
Or52b4i	A	G	7: 102,191,830 (GRCm39)	H229R	probably benign	Het
Or52e8	A	T	7: 104,624,934 (GRCm39)	I90N	probably damaging	Het
Or5ac20	A	G	16: 59,104,549 (GRCm39)	F104L	probably benign	Het
Or8g32	A	T	9: 39,305,242 (GRCm39)	I49F	probably damaging	Het
Or8k3	C	G	2: 86,058,473 (GRCm39)	V281L	possibly damaging	Het
Pabpc4	A	T	4: 123,180,508 (GRCm39)	M77L	probably benign	Het
Phactr3	A	G	2: 177,944,589 (GRCm39)	E429G	probably damaging	Het
Polr3b	A	G	10: 84,549,523 (GRCm39)	D915G	probably damaging	Het
Pramel14	A	T	4: 143,718,424 (GRCm39)	F340I	probably benign	Het
Prkcg	T	A	7: 3,372,037 (GRCm39)	M501K	probably damaging	Het
Prkch	G	A	12: 73,747,041 (GRCm39)	A307T	possibly damaging	Het
Ptprt	A	G	2: 161,769,581 (GRCm39)	V428A	possibly damaging	Het
Rnf145	C	A	11: 44,448,263 (GRCm39)	D373E	probably damaging	Het
Scfd2	G	T	5: 74,680,257 (GRCm39)	Q299K	probably benign	Het
Septin2	A	G	1: 93,433,283 (GRCm39)	D315G	probably benign	Het
Sf3a1	T	A	11: 4,125,435 (GRCm39)	Y408*	probably null	Het
Siglecf	A	T	7: 43,001,214 (GRCm39)	N61Y	possibly damaging	Het
Sis	A	T	3: 72,824,531 (GRCm39)	I1334K	probably damaging	Het
Slc38a6	A	T	12: 73,391,658 (GRCm39)	T307S	possibly damaging	Het
Spag9	T	A	11: 94,002,877 (GRCm39)	F1129Y	probably damaging	Het
Sra1	G	A	18: 36,808,064 (GRCm39)	A388V	possibly damaging	Het
Srpk1	T	G	17: 28,840,990 (GRCm39)	K12T	probably damaging	Het
Stam2	A	T	2: 52,596,438 (GRCm39)	I333K	probably damaging	Het
Tle1	GAA	GA	4: 72,057,216 (GRCm39)		probably null	Het
Tmem121b	T	C	6: 120,469,869 (GRCm39)	K283E	possibly damaging	Het
Tmem200a	T	C	10: 25,868,850 (GRCm39)	E473G	probably damaging	Het
Tnxb	T	A	17: 34,922,955 (GRCm39)	S2513T	probably benign	Het
Ttc16	A	T	2: 32,664,135 (GRCm39)		probably benign	Het
Ttll8	C	T	15: 88,799,578 (GRCm39)	C621Y	probably damaging	Het
Ubn2	T	A	6: 38,417,475 (GRCm39)	M171K	probably benign	Het
Vmn2r19	T	A	6: 123,312,904 (GRCm39)	V658D	probably damaging	Het
Vmn2r6	A	T	3: 64,455,064 (GRCm39)		probably benign	Het
Vwa3a	A	T	7: 120,398,321 (GRCm39)	I941L	probably benign	Het
Zbtb24	A	G	10: 41,327,228 (GRCm39)	D38G	probably damaging	Het
Zfp628	T	C	7: 4,923,205 (GRCm39)	C476R	probably damaging	Het
Zfp831	A	C	2: 174,486,528 (GRCm39)	N401T	possibly 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
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
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'- AGCACCCATCTTTCCTAGCAG -3'
(R):5'- CTGTCCTTAAAGCTCTCGGC -3'

Sequencing Primer
(F):5'- TTCCTGGTTCAGGATCTC -3'
(R):5'- TATAACATAGTCAAGTAAGCTGGTGG -3'

Posted On

2020-01-23