Mutagenetix > Incidental Mutation

Incidental Mutation 'R9380:Hsd3b2'

709918

Institutional Source

Beutler Lab

Gene Symbol

Hsd3b2

Ensembl Gene

ENSMUSG00000063730

Gene Name

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R9380 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98618423-98631859 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98619453 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 164 (K164R)

Ref Sequence

ENSEMBL: ENSMUSP00000102635 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107021] [ENSMUST00000107022] [ENSMUST00000177651]

AlphaFold

P26149

Predicted Effect

probably damaging
Transcript: ENSMUST00000107021
AA Change: K164R

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000102635
Gene: ENSMUSG00000063730
AA Change: K164R

Domain	Start	End	E-Value	Type
Pfam:KR	5	130	3.9e-7	PFAM
Pfam:adh_short	5	133	5.6e-8	PFAM
Pfam:Polysacc_synt_2	6	135	2.1e-13	PFAM
Pfam:NmrA	6	139	7.7e-8	PFAM
Pfam:NAD_binding_10	6	207	1.4e-9	PFAM
Pfam:Epimerase	6	254	2.5e-26	PFAM
Pfam:3Beta_HSD	7	288	1.2e-112	PFAM
Pfam:NAD_binding_4	8	221	1.7e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107022
AA Change: K164R

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000102636
Gene: ENSMUSG00000063730
AA Change: K164R

Domain	Start	End	E-Value	Type
Pfam:KR	5	130	3.9e-7	PFAM
Pfam:adh_short	5	133	5.6e-8	PFAM
Pfam:Polysacc_synt_2	6	135	2.1e-13	PFAM
Pfam:NmrA	6	139	7.7e-8	PFAM
Pfam:NAD_binding_10	6	207	1.4e-9	PFAM
Pfam:Epimerase	6	254	2.5e-26	PFAM
Pfam:3Beta_HSD	7	288	1.2e-112	PFAM
Pfam:NAD_binding_4	8	221	1.7e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000177651
AA Change: K164R

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000136533
Gene: ENSMUSG00000063730
AA Change: K164R

Domain	Start	End	E-Value	Type
Pfam:Polysacc_synt_2	6	136	1.2e-13	PFAM
Pfam:NmrA	6	140	1.7e-7	PFAM
Pfam:Epimerase	6	249	2.1e-25	PFAM
Pfam:GDP_Man_Dehyd	7	187	2.7e-13	PFAM
Pfam:3Beta_HSD	7	288	8.2e-114	PFAM
Pfam:NAD_binding_4	8	223	1.5e-18	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (79/79)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl3	T	G	1: 78,659,602 (GRCm39)	C85G	possibly damaging	Het
Alox12e	A	T	11: 70,206,994 (GRCm39)		probably null	Het
Aoc1l2	T	C	6: 48,910,064 (GRCm39)	I667T	probably damaging	Het
Asb10	A	C	5: 24,739,103 (GRCm39)		probably null	Het
B3galt9	G	A	2: 34,729,029 (GRCm39)	C276Y	probably damaging	Het
Bcl2a1d	G	A	9: 88,613,935 (GRCm39)		probably benign	Het
Camsap3	A	T	8: 3,653,999 (GRCm39)	K556N	probably benign	Het
Cd300lf	T	A	11: 115,015,153 (GRCm39)	T146S	probably benign	Het
Chuk	C	A	19: 44,062,958 (GRCm39)	A744S	unknown	Het
Clint1	A	T	11: 45,742,988 (GRCm39)	M4L	probably benign	Het
Cnot4	T	C	6: 35,029,865 (GRCm39)	I344M	possibly damaging	Het
Cpne1	T	C	2: 155,920,721 (GRCm39)	D135G	probably benign	Het
Csgalnact2	C	A	6: 118,105,840 (GRCm39)	L159F	probably damaging	Het
Dnai2	T	C	11: 114,635,989 (GRCm39)	F325L	probably benign	Het
Dnal4	G	A	15: 79,647,790 (GRCm39)	S25L	possibly damaging	Het
Ep300	T	C	15: 81,500,245 (GRCm39)	M515T	unknown	Het
Ewsr1	T	C	11: 5,043,730 (GRCm39)	Y18C	possibly damaging	Het
Fam25a	T	C	14: 34,073,957 (GRCm39)	T72A	possibly damaging	Het
Flii	T	C	11: 60,606,297 (GRCm39)	Y1131C	probably benign	Het
Foxj1	C	T	11: 116,222,547 (GRCm39)	A419T	possibly damaging	Het
Fsd1l	A	G	4: 53,693,991 (GRCm39)	T323A	possibly damaging	Het
Furin	T	C	7: 80,041,506 (GRCm39)	I551V	probably benign	Het
Gbp11	A	G	5: 105,475,202 (GRCm39)	V382A	probably benign	Het
Gfod1	A	C	13: 43,354,320 (GRCm39)	D218E	probably damaging	Het
Glp2r	A	T	11: 67,637,572 (GRCm39)	I153N	possibly damaging	Het
Gm11214	G	T	4: 63,580,850 (GRCm39)	P100T	possibly damaging	Het
Gne	A	T	4: 44,066,807 (GRCm39)	F69I	probably benign	Het
Hspa1b	T	C	17: 35,177,170 (GRCm39)	R272G	probably damaging	Het
Hydin	C	A	8: 111,290,504 (GRCm39)	T3321N	probably benign	Het
Impg1	A	T	9: 80,289,077 (GRCm39)	S327T	probably benign	Het
Izumo2	T	C	7: 44,364,812 (GRCm39)	V159A	probably benign	Het
Kat6b	T	C	14: 21,678,926 (GRCm39)	S430P	probably damaging	Het
Kcnj9	T	A	1: 172,153,447 (GRCm39)	T226S	probably benign	Het
Kl	T	A	5: 150,912,342 (GRCm39)	M697K	possibly damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Lrrk1	G	A	7: 65,928,331 (GRCm39)	P1266S	probably damaging	Het
Med13	A	T	11: 86,177,598 (GRCm39)	N1499K	probably benign	Het
Mybbp1a	A	G	11: 72,333,668 (GRCm39)	I182V	probably benign	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nin	A	G	12: 70,074,805 (GRCm39)	L1859P		Het
Nlrp4e	C	G	7: 23,020,755 (GRCm39)	A414G	probably benign	Het
Or2y10	A	G	11: 49,454,904 (GRCm39)	D52G	possibly damaging	Het
Or4a67	A	T	2: 88,598,530 (GRCm39)	I43N	probably damaging	Het
Or4k1	C	A	14: 50,377,770 (GRCm39)	G109W	probably damaging	Het
Or8b50	A	G	9: 38,518,415 (GRCm39)	Y218C	probably damaging	Het
Osbpl8	T	A	10: 111,108,980 (GRCm39)	S421T	probably damaging	Het
Paqr7	A	G	4: 134,234,350 (GRCm39)	N69S	probably damaging	Het
Pcare	A	T	17: 72,056,351 (GRCm39)	S1109T	possibly damaging	Het
Pdgfrb	G	A	18: 61,197,920 (GRCm39)	G231D	probably damaging	Het
Pip5k1b	A	G	19: 24,356,417 (GRCm39)	Y174H	probably damaging	Het
Pkd1	T	A	17: 24,769,262 (GRCm39)	L9Q	unknown	Het
Psmg4	A	T	13: 34,350,080 (GRCm39)	T71S	probably benign	Het
Ptpn23	A	G	9: 110,221,581 (GRCm39)	I173T	possibly damaging	Het
Qser1	G	A	2: 104,619,691 (GRCm39)	Q284*	probably null	Het
Rcc2	G	T	4: 140,429,702 (GRCm39)	A79S	probably benign	Het
Rgl3	G	T	9: 21,888,123 (GRCm39)	Q464K	probably damaging	Het
Rhov	C	A	2: 119,100,604 (GRCm39)	R211L	probably benign	Het
Rp1l1	A	G	14: 64,266,475 (GRCm39)	D687G	probably benign	Het
Selenbp2	A	G	3: 94,609,654 (GRCm39)	I291V	probably benign	Het
Sh3glb2	A	T	2: 30,238,625 (GRCm39)	V189E	probably damaging	Het
Slc46a2	A	G	4: 59,913,867 (GRCm39)	I352T	probably damaging	Het
Sucla2	T	A	14: 73,828,312 (GRCm39)	N306K	probably benign	Het
Suco	A	G	1: 161,646,074 (GRCm39)	V1209A	possibly damaging	Het
Tacc2	T	A	7: 130,226,771 (GRCm39)	L1152Q	possibly damaging	Het
Tanc1	A	T	2: 59,665,796 (GRCm39)	K1185M	probably damaging	Het
Tas2r114	A	G	6: 131,666,381 (GRCm39)	F216L	probably benign	Het
Tead1	A	T	7: 112,441,105 (GRCm39)	H78L	possibly damaging	Het
Tex12	T	C	9: 50,469,586 (GRCm39)	I64V	possibly damaging	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,650,884 (GRCm39)		probably null	Het
Trank1	A	G	9: 111,221,738 (GRCm39)	E2825G	probably benign	Het
Trappc13	T	A	13: 104,280,707 (GRCm39)	Y399F	probably damaging	Het
Trim21	T	C	7: 102,212,992 (GRCm39)	D102G	probably damaging	Het
Trim27	G	T	13: 21,364,680 (GRCm39)	V6L	probably benign	Het
Trim55	A	G	3: 19,728,559 (GRCm39)	T457A	probably benign	Het
Trrap	A	G	5: 144,769,981 (GRCm39)	E2716G	probably benign	Het
Usp10	T	G	8: 120,682,943 (GRCm39)	L712R	probably damaging	Het
Vldlr	T	A	19: 27,216,192 (GRCm39)	C338S	possibly damaging	Het
Zfp946	A	G	17: 22,673,680 (GRCm39)	I145V	probably benign	Het

Other mutations in Hsd3b2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00857:Hsd3b2	APN	3	98,618,859 (GRCm39)	missense	possibly damaging	0.47
IGL01102:Hsd3b2	APN	3	98,618,995 (GRCm39)	missense	probably damaging	0.97
IGL01733:Hsd3b2	APN	3	98,623,801 (GRCm39)	missense	probably damaging	1.00
IGL02202:Hsd3b2	APN	3	98,619,183 (GRCm39)	missense	possibly damaging	0.85
IGL02851:Hsd3b2	APN	3	98,623,740 (GRCm39)	missense	possibly damaging	0.84
R1737:Hsd3b2	UTSW	3	98,618,862 (GRCm39)	missense	probably damaging	1.00
R1800:Hsd3b2	UTSW	3	98,619,553 (GRCm39)	missense	probably damaging	1.00
R1917:Hsd3b2	UTSW	3	98,619,342 (GRCm39)	missense	probably benign
R4797:Hsd3b2	UTSW	3	98,618,979 (GRCm39)	missense	probably damaging	1.00
R5354:Hsd3b2	UTSW	3	98,619,631 (GRCm39)	missense	probably benign	0.39
R5412:Hsd3b2	UTSW	3	98,619,208 (GRCm39)	missense	possibly damaging	0.88
R5940:Hsd3b2	UTSW	3	98,619,287 (GRCm39)	missense	probably benign	0.02
R5954:Hsd3b2	UTSW	3	98,618,875 (GRCm39)	missense	probably benign	0.06
R6012:Hsd3b2	UTSW	3	98,619,333 (GRCm39)	missense	probably benign
R6083:Hsd3b2	UTSW	3	98,619,372 (GRCm39)	missense	possibly damaging	0.94
R6675:Hsd3b2	UTSW	3	98,620,788 (GRCm39)	missense	probably benign	0.02
R7436:Hsd3b2	UTSW	3	98,619,112 (GRCm39)	missense	probably benign	0.00
R8192:Hsd3b2	UTSW	3	98,620,908 (GRCm39)	missense	probably benign	0.00
R9445:Hsd3b2	UTSW	3	98,619,051 (GRCm39)	missense	possibly damaging	0.95
X0054:Hsd3b2	UTSW	3	98,620,816 (GRCm39)	missense	probably damaging	1.00
Z1176:Hsd3b2	UTSW	3	98,619,538 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGAATGTGTGCCCAGGCTAC -3'
(R):5'- TGATTAGGTACCCAGAACTTATTGG -3'

Sequencing Primer
(F):5'- GGCTACATTGCCCACATATACTGG -3'
(R):5'- TACCCAGAACTTATTGGAGGCCTG -3'

Posted On

2022-04-18