Mutagenetix > Incidental Mutation

Incidental Mutation 'R0782:Lactb2'

76663

Institutional Source

Beutler Lab

Gene Symbol

Lactb2

Ensembl Gene

ENSMUSG00000025937

Gene Name

lactamase, beta 2

Synonyms

Cgi-83, E430032H21Rik

MMRRC Submission

038962-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R0782 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13695069-13730749 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 13717675 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 116 (N116T)

Ref Sequence

ENSEMBL: ENSMUSP00000027071 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027071]

AlphaFold

Q99KR3

Predicted Effect

probably benign
Transcript: ENSMUST00000027071
AA Change: N116T

PolyPhen 2 Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000027071
Gene: ENSMUSG00000025937
AA Change: N116T

Domain	Start	End	E-Value	Type
Lactamase_B	30	199	6.69e-30	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194537

Meta Mutation Damage Score

0.0858

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.0%
20x: 93.3%

Validation Efficiency

100% (39/39)

MGI Phenotype

PHENOTYPE: Male mice homozygous for a null allele exhibit at 40 days of age preceeded by decreased body size, lethargy, enlarged and pale liver and hepatic steatosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap23	C	T	11: 97,391,380 (GRCm39)	P1299L	possibly damaging	Het
B3glct	C	T	5: 149,650,275 (GRCm39)	T126M	probably damaging	Het
Baz1a	A	T	12: 54,941,273 (GRCm39)	D1492E	probably damaging	Het
Cdc14a	A	G	3: 116,115,785 (GRCm39)	I259T	probably damaging	Het
Cog7	C	A	7: 121,543,020 (GRCm39)	A464S	possibly damaging	Het
Csf2rb2	C	A	15: 78,170,951 (GRCm39)	K368N	probably damaging	Het
Cspp1	T	A	1: 10,200,199 (GRCm39)		probably benign	Het
Cyp2c37	A	G	19: 39,982,269 (GRCm39)	H90R	probably benign	Het
Dcst1	A	G	3: 89,264,807 (GRCm39)	F314L	possibly damaging	Het
Dhx36	A	T	3: 62,414,135 (GRCm39)		probably benign	Het
Efr3b	G	A	12: 4,034,686 (GRCm39)		probably benign	Het
Faap100	A	G	11: 120,267,530 (GRCm39)		probably null	Het
Hmcn1	A	G	1: 150,629,416 (GRCm39)	I947T	possibly damaging	Het
Ilkap	C	T	1: 91,306,272 (GRCm39)	R103H	probably damaging	Het
Impa1	A	T	3: 10,387,956 (GRCm39)		probably benign	Het
Kbtbd8	C	T	6: 95,099,213 (GRCm39)	R164C	probably damaging	Het
Myh8	T	A	11: 67,180,580 (GRCm39)	N605K	probably benign	Het
Mylk	G	C	16: 34,699,845 (GRCm39)	E403Q	possibly damaging	Het
Napa	T	C	7: 15,849,192 (GRCm39)	M244T	probably benign	Het
Nckap5	G	A	1: 125,909,278 (GRCm39)	S1719F	probably damaging	Het
Nfe2l2	T	C	2: 75,507,177 (GRCm39)	I308V	probably benign	Het
Or51af1	C	A	7: 103,141,722 (GRCm39)	R121L	probably damaging	Het
Ppfia2	C	T	10: 106,763,592 (GRCm39)	S1195L	probably benign	Het
Rasa4	A	G	5: 136,133,386 (GRCm39)	K615R	possibly damaging	Het
Rnf216	T	C	5: 143,054,647 (GRCm39)	K634E	possibly damaging	Het
Samd3	A	G	10: 26,146,138 (GRCm39)	T388A	probably damaging	Het
Serping1	G	A	2: 84,597,790 (GRCm39)	P364S	probably damaging	Het
Slc39a10	T	C	1: 46,875,156 (GRCm39)	S49G	probably damaging	Het
Smc2	C	A	4: 52,469,799 (GRCm39)	T762K	probably benign	Het
Smpd1	T	A	7: 105,204,550 (GRCm39)	V143E	possibly damaging	Het
Synj2bp	A	T	12: 81,579,507 (GRCm39)	L16Q	probably damaging	Het
Tcof1	G	A	18: 60,949,352 (GRCm39)	R1188W	probably damaging	Het
Unc80	A	G	1: 66,661,740 (GRCm39)	R1722G	possibly damaging	Het
Vamp5	T	C	6: 72,346,453 (GRCm39)	S48G	probably damaging	Het
Vps13d	G	A	4: 144,853,195 (GRCm39)		probably benign	Het
Zfp292	T	C	4: 34,839,382 (GRCm39)	N161S	possibly damaging	Het
Zfp831	A	G	2: 174,488,423 (GRCm39)	T1033A	probably benign	Het

Other mutations in Lactb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Lactb2	APN	1	13,730,598 (GRCm39)	missense	probably damaging	1.00
IGL00595:Lactb2	APN	1	13,700,350 (GRCm39)	missense	probably benign	0.05
IGL00730:Lactb2	APN	1	13,717,740 (GRCm39)	splice site	probably benign
R0371:Lactb2	UTSW	1	13,720,984 (GRCm39)	missense	possibly damaging	0.69
R1670:Lactb2	UTSW	1	13,730,641 (GRCm39)	missense	probably damaging	0.99
R2324:Lactb2	UTSW	1	13,708,520 (GRCm39)	missense	probably damaging	1.00
R2418:Lactb2	UTSW	1	13,730,563 (GRCm39)	missense	possibly damaging	0.93
R3500:Lactb2	UTSW	1	13,730,673 (GRCm39)	start codon destroyed	probably null	1.00
R4345:Lactb2	UTSW	1	13,730,574 (GRCm39)	missense	probably damaging	1.00
R4664:Lactb2	UTSW	1	13,717,624 (GRCm39)	missense	probably damaging	1.00
R4665:Lactb2	UTSW	1	13,717,624 (GRCm39)	missense	probably damaging	1.00
R4716:Lactb2	UTSW	1	13,708,619 (GRCm39)	missense	probably damaging	1.00
R5363:Lactb2	UTSW	1	13,700,356 (GRCm39)	missense	probably benign	0.22
R5658:Lactb2	UTSW	1	13,697,642 (GRCm39)	missense	probably benign	0.03
R5734:Lactb2	UTSW	1	13,730,611 (GRCm39)	missense	probably damaging	1.00
R5918:Lactb2	UTSW	1	13,720,954 (GRCm39)	missense	probably benign	0.32
R6419:Lactb2	UTSW	1	13,708,459 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACTGGGAAAGGCCCTACATTGAGG -3'
(R):5'- AGACAACACTCTGGGAACATGTGAAC -3'

Sequencing Primer
(F):5'- tctgctgcgaccaagcc -3'
(R):5'- CTAGTTCCATTGCAGAGGTACAG -3'

Posted On

2013-10-16