Mutagenetix > Incidental Mutation

Incidental Mutation 'R3001:Lnx2'

257318

Institutional Source

Beutler Lab

Gene Symbol

Lnx2

Ensembl Gene

ENSMUSG00000016520

Gene Name

ligand of numb-protein X 2

Synonyms

MMRRC Submission

040530-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

R3001 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

147016655-147076586 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 147019015 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 657 (V657A)

Ref Sequence

ENSEMBL: ENSMUSP00000016664 (fasta)

Gene Model

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

AlphaFold

Q91XL2

Predicted Effect

probably benign
Transcript: ENSMUST00000016664
AA Change: V657A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000016664
Gene: ENSMUSG00000016520
AA Change: V657A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123092

Meta Mutation Damage Score

0.0849

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

98% (47/48)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	T	C	1: 86,046,080 (GRCm38)	W40R	possibly damaging	Het
A2m	A	G	6: 121,661,447 (GRCm38)	S873G	possibly damaging	Het
Acd	C	T	8: 105,700,281 (GRCm38)		probably null	Het
Acly	T	C	11: 100,504,227 (GRCm38)	K469E	possibly damaging	Het
Adcy6	T	C	15: 98,596,660 (GRCm38)	T767A	probably benign	Het
Bnip3	T	C	7: 138,894,701 (GRCm38)	I93V	probably benign	Het
Casq2	A	G	3: 102,145,201 (GRCm38)	D269G	probably damaging	Het
Ccdc180	A	G	4: 45,899,988 (GRCm38)	D182G	probably benign	Het
Cep112	A	G	11: 108,440,503 (GRCm38)	E178G	probably damaging	Het
Chrd	T	G	16: 20,737,445 (GRCm38)	Y585*	probably null	Het
Csmd1	A	G	8: 16,196,170 (GRCm38)	F1072L	probably damaging	Het
Dnai2	C	T	11: 114,750,471 (GRCm38)	P374L	probably damaging	Het
Eif4g1	T	A	16: 20,692,384 (GRCm38)	F1289I	probably damaging	Het
Eprs1	T	C	1: 185,424,391 (GRCm38)		probably null	Het
Fasn	T	C	11: 120,809,845 (GRCm38)	D2114G	probably benign	Het
Fbxl17	T	A	17: 63,225,077 (GRCm38)	E590D	probably damaging	Het
Flnb	G	T	14: 7,907,162 (GRCm38)	R1245L	probably benign	Het
Folh1	A	C	7: 86,723,311 (GRCm38)	I678M	probably damaging	Het
Hal	G	A	10: 93,507,519 (GRCm38)	A542T	probably damaging	Het
Hs3st2	T	A	7: 121,500,687 (GRCm38)	M252K	probably damaging	Het
Il27ra	G	T	8: 84,032,031 (GRCm38)	S499*	probably null	Het
Klhdc1	T	A	12: 69,256,209 (GRCm38)	V173D	possibly damaging	Het
Knop1	CTCTTCTTCTTCTTCTTCTTCTTC	CTCTTCTTCTTCTTCTTC	7: 118,852,449 (GRCm38)		probably benign	Het
Krt71	C	T	15: 101,740,471 (GRCm38)		probably benign	Het
Lct	T	C	1: 128,304,226 (GRCm38)	M629V	probably damaging	Het
Lrig1	G	A	6: 94,608,777 (GRCm38)	S810L	probably damaging	Het
Lyst	A	T	13: 13,696,705 (GRCm38)	M2676L	probably benign	Het
Mindy4	T	A	6: 55,218,364 (GRCm38)	S188T	probably benign	Het
Mrgprb3	C	T	7: 48,643,484 (GRCm38)	M106I	probably benign	Het
Ncam1	A	G	9: 49,557,226 (GRCm38)	I311T	probably damaging	Het
Ndufa8	T	A	2: 36,036,559 (GRCm38)	E155V	possibly damaging	Het
Nr4a1	A	G	15: 101,270,972 (GRCm38)		probably null	Het
Or2a12	A	G	6: 42,927,954 (GRCm38)	H241R	probably damaging	Het
Orc3	T	C	4: 34,571,790 (GRCm38)	T660A	probably benign	Het
Otub2	T	C	12: 103,404,277 (GRCm38)	S273P	probably damaging	Het
Otulinl	T	C	15: 27,664,706 (GRCm38)	T55A	probably benign	Het
Phf11c	A	G	14: 59,384,840 (GRCm38)	L241P	probably damaging	Het
Pik3ca	T	A	3: 32,462,797 (GRCm38)	I1058N	probably damaging	Het
Pkd2l1	A	G	19: 44,155,557 (GRCm38)	F359S	possibly damaging	Het
Plxnc1	A	T	10: 94,793,218 (GRCm38)	F1565I	probably damaging	Het
Polr1a	T	A	6: 71,965,644 (GRCm38)	V1156E	probably benign	Het
Polr1a	A	G	6: 71,913,016 (GRCm38)	N73S	probably benign	Het
Pon2	A	G	6: 5,268,976 (GRCm38)		probably null	Het
Ptcd1	G	A	5: 145,159,576 (GRCm38)	L236F	probably damaging	Het
Rgl2	A	G	17: 33,932,605 (GRCm38)	I208V	probably benign	Het
Rptor	G	A	11: 119,872,371 (GRCm38)	R927Q	possibly damaging	Het
Sacm1l	T	C	9: 123,585,084 (GRCm38)		probably benign	Het
Sec14l5	A	G	16: 5,171,882 (GRCm38)	Y230C	probably damaging	Het
Sele	G	T	1: 164,053,571 (GRCm38)	G447C	probably damaging	Het
Slc17a1	G	A	13: 23,878,581 (GRCm38)		probably null	Het
Slc2a4	A	T	11: 69,945,925 (GRCm38)	Y159*	probably null	Het
Slitrk5	A	G	14: 111,679,582 (GRCm38)	K213E	probably damaging	Het
Tdrd1	C	A	19: 56,861,750 (GRCm38)	Y981*	probably null	Het
Tex15	T	C	8: 33,574,528 (GRCm38)	Y1329H	probably benign	Het
Tgif2	C	G	2: 156,844,194 (GRCm38)	S2W	probably damaging	Het
Thoc5	A	G	11: 4,928,688 (GRCm38)	M620V	probably benign	Het
Tmeff2	C	T	1: 51,181,835 (GRCm38)	A323V	probably damaging	Het
Tmem181a	T	A	17: 6,295,786 (GRCm38)	L185H	probably damaging	Het
Tmem68	A	C	4: 3,569,588 (GRCm38)	L34W	probably damaging	Het
Tmtc4	A	T	14: 122,932,818 (GRCm38)		probably null	Het
Trpm2	A	T	10: 77,930,534 (GRCm38)		probably null	Het
Tut4	G	A	4: 108,512,928 (GRCm38)	E714K	probably damaging	Het
Tyk2	C	A	9: 21,109,321 (GRCm38)	R938L	probably benign	Het
Usp33	A	T	3: 152,357,942 (GRCm38)	T18S	probably damaging	Het
V1rd19	A	T	7: 24,003,885 (GRCm38)	I259F	probably benign	Het
Vmn2r24	A	C	6: 123,804,272 (GRCm38)	Q479P	probably benign	Het
Vmn2r98	A	G	17: 19,065,863 (GRCm38)	M208V	probably benign	Het
Wfdc6a	C	T	2: 164,580,305 (GRCm38)	V125I	probably benign	Het
Xpo7	A	G	14: 70,692,645 (GRCm38)		probably benign	Het
Zkscan17	A	G	11: 59,487,251 (GRCm38)	C369R	probably damaging	Het

Other mutations in Lnx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02593:Lnx2	APN	5	147,033,015 (GRCm38)	missense	possibly damaging	0.81
IGL02657:Lnx2	APN	5	147,028,174 (GRCm38)	missense	probably damaging	1.00
IGL02820:Lnx2	APN	5	147,042,067 (GRCm38)	missense	probably damaging	0.98
R0051:Lnx2	UTSW	5	147,029,353 (GRCm38)	missense	probably damaging	0.96
R0389:Lnx2	UTSW	5	147,019,040 (GRCm38)	missense	possibly damaging	0.51
R0482:Lnx2	UTSW	5	147,018,961 (GRCm38)	missense	probably damaging	0.99
R1601:Lnx2	UTSW	5	147,033,519 (GRCm38)	missense	probably damaging	0.99
R1604:Lnx2	UTSW	5	147,029,325 (GRCm38)	missense	probably benign	0.02
R1647:Lnx2	UTSW	5	147,027,342 (GRCm38)	missense	probably benign	0.04
R3002:Lnx2	UTSW	5	147,019,015 (GRCm38)	missense	probably benign	0.00
R4734:Lnx2	UTSW	5	147,029,137 (GRCm38)	missense	probably damaging	1.00
R4960:Lnx2	UTSW	5	147,019,040 (GRCm38)	missense	probably benign	0.09
R5387:Lnx2	UTSW	5	147,028,154 (GRCm38)	missense	probably benign	0.00
R5689:Lnx2	UTSW	5	147,029,151 (GRCm38)	missense	probably damaging	1.00
R5950:Lnx2	UTSW	5	147,024,350 (GRCm38)	critical splice donor site	probably null
R6161:Lnx2	UTSW	5	147,042,026 (GRCm38)	splice site	probably null
R6623:Lnx2	UTSW	5	147,024,487 (GRCm38)	missense	probably damaging	1.00
R7086:Lnx2	UTSW	5	147,020,178 (GRCm38)	splice site	probably null
R7320:Lnx2	UTSW	5	147,020,133 (GRCm38)	missense	possibly damaging	0.71
R7701:Lnx2	UTSW	5	147,024,523 (GRCm38)	missense	probably damaging	1.00
R7887:Lnx2	UTSW	5	147,019,043 (GRCm38)	missense	probably damaging	1.00
R8153:Lnx2	UTSW	5	147,028,096 (GRCm38)	missense	probably benign
R8267:Lnx2	UTSW	5	147,029,091 (GRCm38)	missense	probably damaging	1.00
R8298:Lnx2	UTSW	5	147,024,517 (GRCm38)	missense	probably benign	0.05
R8384:Lnx2	UTSW	5	147,029,328 (GRCm38)	missense	probably benign	0.01
R8446:Lnx2	UTSW	5	147,033,359 (GRCm38)	missense	probably benign
R8971:Lnx2	UTSW	5	147,033,426 (GRCm38)	missense	probably benign
R9378:Lnx2	UTSW	5	147,024,370 (GRCm38)	missense	probably benign	0.16
R9468:Lnx2	UTSW	5	147,042,479 (GRCm38)	start gained	probably benign
R9711:Lnx2	UTSW	5	147,024,566 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTCCGAGCCAAGGGGAAAC -3'
(R):5'- TTGGTAATACCCCTGCCCTG -3'

Sequencing Primer
(F):5'- CACAGGATGATGTCAGTATTGC -3'
(R):5'- CTGTGACAGTTAGCCAGAGC -3'

Posted On

2015-01-11