Mutagenetix > Incidental Mutation

Incidental Mutation 'R9068:Akr1b7'

689366

Institutional Source

Beutler Lab

Gene Symbol

Akr1b7

Ensembl Gene

ENSMUSG00000052131

Gene Name

aldo-keto reductase family 1, member B7

Synonyms

MVDP, Avdp

MMRRC Submission

068892-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R9068 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34389297-34400072 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34395977 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 160 (S160P)

Ref Sequence

ENSEMBL: ENSMUSP00000007449 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007449]

AlphaFold

P21300

Predicted Effect

probably damaging
Transcript: ENSMUST00000007449
AA Change: S160P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000007449
Gene: ENSMUSG00000052131
AA Change: S160P

Domain	Start	End	E-Value	Type
Pfam:Aldo_ket_red	15	294	2.1e-60	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (57/59)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele exhibit disrupted progesterone levels during estrous. Mice homozygous for a different knock-out allele exhibit increased basal adiposity and susceptibility to diet-induced obesity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	C	6: 23,075,828 (GRCm39)	I770V	probably benign	Het
Abtb3	C	A	10: 85,223,762 (GRCm39)	N190K	unknown	Het
Actr10	T	C	12: 70,989,073 (GRCm39)	L64S	probably damaging	Het
Adam22	T	C	5: 8,177,343 (GRCm39)	T589A	probably benign	Het
Ankrd52	C	T	10: 128,217,850 (GRCm39)	H277Y	probably damaging	Het
Cc2d1b	T	A	4: 108,482,062 (GRCm39)	L112Q	probably damaging	Het
Cd200r3	T	A	16: 44,773,750 (GRCm39)		probably benign	Het
Clec3a	A	G	8: 115,152,375 (GRCm39)	D127G	probably damaging	Het
Cnnm3	T	C	1: 36,551,962 (GRCm39)	L324P	probably damaging	Het
Cspp1	T	C	1: 10,147,469 (GRCm39)		probably null	Het
Cwf19l1	C	T	19: 44,124,274 (GRCm39)		probably benign	Het
Cyp26b1	G	A	6: 84,551,379 (GRCm39)	T470I	probably damaging	Het
Dedd2	A	G	7: 24,917,092 (GRCm39)	V110A	probably benign	Het
Dnah8	A	G	17: 30,975,729 (GRCm39)	I2866M	possibly damaging	Het
Dpp10	T	C	1: 123,360,667 (GRCm39)	Y286C	probably damaging	Het
Efna2	C	T	10: 80,024,524 (GRCm39)	P177L	probably damaging	Het
Fbxo46	A	G	7: 18,869,325 (GRCm39)		probably benign	Het
Gdpd5	A	T	7: 99,108,048 (GRCm39)	T542S	probably benign	Het
Gm136	T	G	4: 34,750,928 (GRCm39)	D115A	possibly damaging	Het
Gm7356	T	A	17: 14,221,687 (GRCm39)	K114I	possibly damaging	Het
Gpr180	G	T	14: 118,385,658 (GRCm39)	E157*	probably null	Het
Grk4	T	C	5: 34,905,653 (GRCm39)	I466T		Het
Hic1	A	G	11: 75,060,332 (GRCm39)	M5T	unknown	Het
Hmcn2	C	A	2: 31,303,685 (GRCm39)	N3058K	probably benign	Het
Htr5a	T	A	5: 28,055,799 (GRCm39)	H263Q	probably benign	Het
Lrrc7	T	C	3: 157,946,138 (GRCm39)	K187R	probably benign	Het
Map3k8	A	T	18: 4,340,557 (GRCm39)	H252Q	probably benign	Het
Muc4	CAC	CACTAC	16: 32,575,367 (GRCm39)		probably benign	Het
Naa16	A	T	14: 79,612,289 (GRCm39)	M233K	probably benign	Het
Napsa	A	T	7: 44,235,223 (GRCm39)	D336V	probably damaging	Het
Neurod1	T	A	2: 79,285,218 (GRCm39)	N55I	possibly damaging	Het
Or10d5	A	T	9: 39,862,087 (GRCm39)		probably benign	Het
Or4c115	A	T	2: 88,927,369 (GRCm39)	C301S	probably benign	Het
Or5an9	T	C	19: 12,187,703 (GRCm39)	F258L	probably damaging	Het
Or8b12	T	A	9: 37,657,963 (GRCm39)	C178S	probably damaging	Het
Pcdha8	G	T	18: 37,127,323 (GRCm39)	G602C	probably damaging	Het
Peg10	T	TCCG	6: 4,756,451 (GRCm39)		probably benign	Het
Pigr	G	A	1: 130,774,231 (GRCm39)	V404M	probably damaging	Het
Plch1	G	A	3: 63,612,036 (GRCm39)	P803L	probably damaging	Het
Ppp4r3b	T	A	11: 29,159,396 (GRCm39)	F583L	probably benign	Het
Rit2	A	T	18: 31,108,468 (GRCm39)	D172E	possibly damaging	Het
Skint4	C	T	4: 112,022,932 (GRCm39)	P476S	possibly damaging	Het
Slco2b1	A	G	7: 99,320,171 (GRCm39)	V353A	probably benign	Het
Slit3	A	G	11: 35,574,917 (GRCm39)	D1077G	probably damaging	Het
Sun2	A	G	15: 79,612,252 (GRCm39)	F478L	probably benign	Het
Syt6	C	A	3: 103,494,825 (GRCm39)	C263*	probably null	Het
Tfpi	C	A	2: 84,273,235 (GRCm39)	L229F	unknown	Het
Tmem131l	A	T	3: 83,817,775 (GRCm39)	C1242S	probably benign	Het
Ttc3	T	A	16: 94,204,219 (GRCm39)	W280R	probably damaging	Het
Uncx	A	G	5: 139,532,573 (GRCm39)	K213E	possibly damaging	Het
Usp24	T	C	4: 106,232,875 (GRCm39)	L887P	probably benign	Het
Vmn1r178	A	T	7: 23,593,404 (GRCm39)	I151F	probably damaging	Het
Vmn2r50	G	T	7: 9,772,061 (GRCm39)	Q547K	possibly damaging	Het
Vwf	A	G	6: 125,625,792 (GRCm39)		probably benign	Het
Wdfy3	A	T	5: 102,000,451 (GRCm39)	V2973D	probably benign	Het
Zbtb49	T	C	5: 38,358,289 (GRCm39)	M655V	probably benign	Het
Zc3h3	C	T	15: 75,711,499 (GRCm39)	A321T	probably benign	Het
Zeb2	T	A	2: 45,000,040 (GRCm39)	R65W	possibly damaging	Het
Zfp541	A	G	7: 15,812,376 (GRCm39)	E343G	probably damaging	Het
Zfp775	C	A	6: 48,597,151 (GRCm39)	R342S	probably damaging	Het
Zwilch	A	G	9: 64,075,942 (GRCm39)	F27L	probably benign	Het

Other mutations in Akr1b7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01402:Akr1b7	APN	6	34,398,052 (GRCm39)	missense	possibly damaging	0.96
IGL02006:Akr1b7	APN	6	34,392,385 (GRCm39)	missense	probably benign	0.03
IGL02238:Akr1b7	APN	6	34,392,333 (GRCm39)	missense	probably damaging	1.00
R0393:Akr1b7	UTSW	6	34,392,335 (GRCm39)	nonsense	probably null
R1809:Akr1b7	UTSW	6	34,396,046 (GRCm39)	missense	probably damaging	1.00
R2114:Akr1b7	UTSW	6	34,395,929 (GRCm39)	missense	possibly damaging	0.71
R2115:Akr1b7	UTSW	6	34,395,929 (GRCm39)	missense	possibly damaging	0.71
R2117:Akr1b7	UTSW	6	34,395,929 (GRCm39)	missense	possibly damaging	0.71
R4277:Akr1b7	UTSW	6	34,397,955 (GRCm39)	intron	probably benign
R5396:Akr1b7	UTSW	6	34,389,411 (GRCm39)	critical splice donor site	probably null
R5504:Akr1b7	UTSW	6	34,396,453 (GRCm39)	splice site	probably null
R6181:Akr1b7	UTSW	6	34,392,313 (GRCm39)	missense	possibly damaging	0.71
R6657:Akr1b7	UTSW	6	34,393,135 (GRCm39)	missense	probably damaging	1.00
R6815:Akr1b7	UTSW	6	34,389,269 (GRCm39)	splice site	probably null
R7211:Akr1b7	UTSW	6	34,398,049 (GRCm39)	missense	probably benign	0.39
R7246:Akr1b7	UTSW	6	34,392,404 (GRCm39)	missense	probably benign	0.04
R7417:Akr1b7	UTSW	6	34,394,300 (GRCm39)	splice site	probably null
R7572:Akr1b7	UTSW	6	34,396,343 (GRCm39)	missense	probably damaging	0.99
R7608:Akr1b7	UTSW	6	34,397,457 (GRCm39)	missense	probably damaging	1.00
R9468:Akr1b7	UTSW	6	34,392,316 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- CCTCATTACATCTGAGCTGGGG -3'
(R):5'- TCCCTAAGCATCCTGAACATAG -3'

Sequencing Primer
(F):5'- CTCATTACATCTGAGCTGGGGAAGAG -3'
(R):5'- TCCTGAACATAGACCTCTGAGAG -3'

Posted On

2021-11-19