Mutagenetix > Incidental Mutation

Incidental Mutation 'R0051:Lnx2'

64286

Institutional Source

Beutler Lab

Gene Symbol

Lnx2

Ensembl Gene

ENSMUSG00000016520

Gene Name

ligand of numb-protein X 2

Synonyms

MMRRC Submission

038345-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R0051 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

146953465-147013385 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 146966163 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 319 (F319L)

Ref Sequence

ENSEMBL: ENSMUSP00000016664 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016664]

AlphaFold

Q91XL2

Predicted Effect

probably damaging
Transcript: ENSMUST00000016664
AA Change: F319L

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000016664
Gene: ENSMUSG00000016520
AA Change: F319L

Domain	Start	End	E-Value	Type
RING	51	88	2.06e-6	SMART
low complexity region	103	114	N/A	INTRINSIC
PDZ	242	317	2.25e-17	SMART
PDZ	348	421	2.97e-17	SMART
PDZ	474	553	7.37e-13	SMART
PDZ	606	683	1.27e-16	SMART

Meta Mutation Damage Score

0.1913

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.1%
20x: 93.8%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	A	G	7: 29,278,526 (GRCm39)		noncoding transcript	Het
Abr	T	A	11: 76,363,328 (GRCm39)	Q163L	probably benign	Het
Ankrd11	C	A	8: 123,616,481 (GRCm39)	C2457F	probably damaging	Het
Anks3	G	C	16: 4,765,613 (GRCm39)	T163S	probably benign	Het
Cacna1d	G	A	14: 29,833,052 (GRCm39)	P908S	probably damaging	Het
Ccdc146	C	A	5: 21,521,902 (GRCm39)	R374L	possibly damaging	Het
Cdc45	G	T	16: 18,613,524 (GRCm39)	A348E	probably damaging	Het
Cfap46	A	G	7: 139,255,951 (GRCm39)	C300R	probably damaging	Het
Cimap1a	C	A	7: 140,430,134 (GRCm39)		probably benign	Het
Coq2	T	C	5: 100,811,551 (GRCm39)	N146S	probably benign	Het
Dalrd3	T	C	9: 108,449,414 (GRCm39)	V120A	possibly damaging	Het
Dcp2	T	A	18: 44,538,441 (GRCm39)		probably benign	Het
Ddx39a	A	G	8: 84,447,251 (GRCm39)	K137R	possibly damaging	Het
Diaph3	A	G	14: 87,274,890 (GRCm39)		probably null	Het
Dmbt1	G	T	7: 130,721,225 (GRCm39)	R1668L	possibly damaging	Het
Dnah7a	T	G	1: 53,560,245 (GRCm39)		probably benign	Het
Dpp7	A	G	2: 25,246,107 (GRCm39)	Y49H	possibly damaging	Het
Drd5	A	G	5: 38,477,957 (GRCm39)	S317G	probably benign	Het
Ecpas	A	G	4: 58,832,729 (GRCm39)	L877S	probably damaging	Het
Ecsit	C	T	9: 21,987,584 (GRCm39)	V152I	probably benign	Het
Eeig1	G	A	2: 32,448,065 (GRCm39)	R58Q	possibly damaging	Het
Emc1	T	A	4: 139,102,474 (GRCm39)	M923K	possibly damaging	Het
Fcrl6	A	T	1: 172,426,320 (GRCm39)	L159Q	probably benign	Het
Frrs1	T	C	3: 116,678,946 (GRCm39)		probably benign	Het
Hspd1	A	G	1: 55,121,205 (GRCm39)		probably benign	Het
Impg2	T	A	16: 56,078,411 (GRCm39)	S458T	probably damaging	Het
Klf17	T	C	4: 117,617,589 (GRCm39)	Y256C	probably damaging	Het
Mafg	G	T	11: 120,520,430 (GRCm39)	R57S	probably damaging	Het
Med13l	T	A	5: 118,880,720 (GRCm39)	W1271R	probably damaging	Het
Mrgprb1	A	G	7: 48,096,962 (GRCm39)	S24P	probably benign	Het
Mtrf1l	T	C	10: 5,763,384 (GRCm39)	E315G	probably damaging	Het
Naip1	T	C	13: 100,547,509 (GRCm39)	E1239G	probably damaging	Het
Ncaph2	T	C	15: 89,253,867 (GRCm39)	S320P	probably damaging	Het
Nek11	A	G	9: 105,095,738 (GRCm39)		probably benign	Het
Nlrp2	A	T	7: 5,325,333 (GRCm39)		probably benign	Het
Rbm26	A	C	14: 105,389,976 (GRCm39)	V216G	possibly damaging	Het
Rnf115	A	G	3: 96,692,338 (GRCm39)	D178G	probably damaging	Het
Rtel1	C	T	2: 180,992,449 (GRCm39)	Q424*	probably null	Het
Rwdd4a	A	G	8: 47,990,400 (GRCm39)		probably benign	Het
Ryr3	T	C	2: 112,699,420 (GRCm39)	D890G	probably damaging	Het
Scarb1	C	A	5: 125,358,164 (GRCm39)		probably null	Het
Serpina10	A	G	12: 103,593,156 (GRCm39)		probably benign	Het
Slc12a5	T	A	2: 164,828,583 (GRCm39)	W508R	probably damaging	Het
Slc43a2	T	C	11: 75,453,676 (GRCm39)	C225R	probably damaging	Het
Slc6a9	T	C	4: 117,722,056 (GRCm39)	F440L	probably damaging	Het
Stac3	G	A	10: 127,344,017 (GRCm39)	R305H	probably damaging	Het
Stk32b	A	G	5: 37,616,940 (GRCm39)		probably benign	Het
Syna	A	T	5: 134,588,397 (GRCm39)	L184H	probably damaging	Het
Tmprss7	T	C	16: 45,494,302 (GRCm39)	N401S	probably damaging	Het
Tut4	T	G	4: 108,384,201 (GRCm39)	S1089R	probably damaging	Het
Yeats2	T	A	16: 20,012,474 (GRCm39)	Y557*	probably null	Het
Zfp352	T	C	4: 90,112,522 (GRCm39)	S221P	probably damaging	Het
Zfp575	A	G	7: 24,285,512 (GRCm39)	V43A	probably benign	Het
Zfp775	A	G	6: 48,597,706 (GRCm39)	T527A	probably benign	Het

Other mutations in Lnx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02593:Lnx2	APN	5	146,969,825 (GRCm39)	missense	possibly damaging	0.81
IGL02657:Lnx2	APN	5	146,964,984 (GRCm39)	missense	probably damaging	1.00
IGL02820:Lnx2	APN	5	146,978,877 (GRCm39)	missense	probably damaging	0.98
R0389:Lnx2	UTSW	5	146,955,850 (GRCm39)	missense	possibly damaging	0.51
R0482:Lnx2	UTSW	5	146,955,771 (GRCm39)	missense	probably damaging	0.99
R1601:Lnx2	UTSW	5	146,970,329 (GRCm39)	missense	probably damaging	0.99
R1604:Lnx2	UTSW	5	146,966,135 (GRCm39)	missense	probably benign	0.02
R1647:Lnx2	UTSW	5	146,964,152 (GRCm39)	missense	probably benign	0.04
R3001:Lnx2	UTSW	5	146,955,825 (GRCm39)	missense	probably benign	0.00
R3002:Lnx2	UTSW	5	146,955,825 (GRCm39)	missense	probably benign	0.00
R4734:Lnx2	UTSW	5	146,965,947 (GRCm39)	missense	probably damaging	1.00
R4960:Lnx2	UTSW	5	146,955,850 (GRCm39)	missense	probably benign	0.09
R5387:Lnx2	UTSW	5	146,964,964 (GRCm39)	missense	probably benign	0.00
R5689:Lnx2	UTSW	5	146,965,961 (GRCm39)	missense	probably damaging	1.00
R5950:Lnx2	UTSW	5	146,961,160 (GRCm39)	critical splice donor site	probably null
R6161:Lnx2	UTSW	5	146,978,836 (GRCm39)	splice site	probably null
R6623:Lnx2	UTSW	5	146,961,297 (GRCm39)	missense	probably damaging	1.00
R7086:Lnx2	UTSW	5	146,956,988 (GRCm39)	splice site	probably null
R7320:Lnx2	UTSW	5	146,956,943 (GRCm39)	missense	possibly damaging	0.71
R7701:Lnx2	UTSW	5	146,961,333 (GRCm39)	missense	probably damaging	1.00
R7887:Lnx2	UTSW	5	146,955,853 (GRCm39)	missense	probably damaging	1.00
R8153:Lnx2	UTSW	5	146,964,906 (GRCm39)	missense	probably benign
R8267:Lnx2	UTSW	5	146,965,901 (GRCm39)	missense	probably damaging	1.00
R8298:Lnx2	UTSW	5	146,961,327 (GRCm39)	missense	probably benign	0.05
R8384:Lnx2	UTSW	5	146,966,138 (GRCm39)	missense	probably benign	0.01
R8446:Lnx2	UTSW	5	146,970,169 (GRCm39)	missense	probably benign
R8971:Lnx2	UTSW	5	146,970,236 (GRCm39)	missense	probably benign
R9378:Lnx2	UTSW	5	146,961,180 (GRCm39)	missense	probably benign	0.16
R9468:Lnx2	UTSW	5	146,979,289 (GRCm39)	start gained	probably benign
R9711:Lnx2	UTSW	5	146,961,376 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCAAGAATGAAAACGCCCGGCTC -3'
(R):5'- GTGTCACCGACTTCTGTGTCCTAAG -3'

Sequencing Primer
(F):5'- AAACGCCCGGCTCATCTG -3'
(R):5'- GTCCTAAGTACAACACTGTGCTG -3'

Posted On

2013-08-06