Mutagenetix > Incidental Mutations

Incidental Mutation 'R7701:Lnx2'

593995

Institutional Source

Beutler Lab

Gene Symbol

Lnx2

Ensembl Gene

ENSMUSG00000016520

Gene Name

ligand of numb-protein X 2

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

R7701 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

147016655-147076586 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 147024523 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 533 (V533E)

Ref Sequence

ENSEMBL: ENSMUSP00000016664 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000016664
AA Change: V533E

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

SMART Domains

Protein: ENSMUSP00000016664
Gene: ENSMUSG00000016520
AA Change: V533E

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930470P17Rik	T	C	2: 170,601,305		probably benign	Het
4932414N04Rik	G	A	2: 68,731,204	V292M	possibly damaging	Het
4933415A04Rik	GTGT	GTGTCTGT	11: 43,587,434		probably null	Het
4933415A04Rik	GTGT	GTGTTTGT	11: 43,587,438		probably null	Het
Actn1	A	T	12: 80,174,554	V575E	possibly damaging	Het
Arhgef1	T	C	7: 24,912,578	S129P	probably benign	Het
Aup1	T	C	6: 83,055,927	V214A	probably benign	Het
AW822073	A	G	10: 58,223,063	V623A	possibly damaging	Het
Bbs10	A	G	10: 111,300,013	E329G	probably damaging	Het
Brinp2	A	G	1: 158,266,460		probably null	Het
Ccdc3	A	G	2: 5,138,057	T42A	possibly damaging	Het
Cd276	T	C	9: 58,535,527	N215S	probably benign	Het
Col24a1	T	A	3: 145,315,011	M381K	probably benign	Het
Col6a4	A	C	9: 106,082,888	F19V	probably benign	Het
Crybg1	G	T	10: 43,989,143	A1446E	probably benign	Het
Dach1	C	T	14: 97,903,234	R496K	probably damaging	Het
Dchs2	A	G	3: 83,346,206	T2308A	possibly damaging	Het
Dync1h1	G	A	12: 110,618,646	D828N	probably damaging	Het
Eif2a	A	T	3: 58,552,570	H462L	possibly damaging	Het
Gas2	T	G	7: 51,993,353	Y263*	probably null	Het
Gm5111	A	G	6: 48,590,093	I81V	unknown	Het
Iqcm	A	G	8: 75,554,911	I7M	probably benign	Het
Kank1	G	A	19: 25,411,765		probably null	Het
Mapk8ip3	G	T	17: 24,901,404	P904T	possibly damaging	Het
Mcm5	C	A	8: 75,123,923	H596N	probably benign	Het
Miip	A	T	4: 147,862,914	V237E	probably null	Het
Mob3a	G	A	10: 80,689,934	A181V	probably damaging	Het
Mrpl38	G	A	11: 116,135,278	R99W	probably benign	Het
Naa25	A	G	5: 121,425,979	T486A	probably benign	Het
Olfr1454	A	G	19: 13,064,081	I223M	probably damaging	Het
Olfr373	T	A	8: 72,100,186	L142Q	probably damaging	Het
Olfr967	A	G	9: 39,751,301	Y305C	probably benign	Het
Pcdha8	A	T	18: 36,993,811	N449Y	probably damaging	Het
Pcdhb6	A	T	18: 37,334,509	D161V	probably damaging	Het
Pdlim3	A	G	8: 45,908,539	D134G	probably benign	Het
Phpt1	A	G	2: 25,574,787	V18A	probably benign	Het
Prg4	T	C	1: 150,457,542	K177E	possibly damaging	Het
Psmb1	A	G	17: 15,477,247	F202S	probably benign	Het
Rab14	A	G	2: 35,183,415	F150L		Het
Rgs14	A	G	13: 55,379,325	D169G	probably damaging	Het
Rreb1	C	T	13: 37,930,116	L484F	possibly damaging	Het
Rsph14	A	T	10: 74,957,776	Y264*	probably null	Het
Scly	T	C	1: 91,308,308	I152T		Het
Ska1	A	T	18: 74,202,643	H85Q	probably damaging	Het
Slc35b3	T	C	13: 38,944,635	M159V	probably benign	Het
Spock1	G	A	13: 57,587,659	Q103*	probably null	Het
Topbp1	T	C	9: 103,332,985	V914A	probably damaging	Het
Tspan3	A	T	9: 56,147,519	Y41*	probably null	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,399,157		probably null	Het
Ttn	T	G	2: 76,729,684	I29458L	possibly damaging	Het
Tubgcp3	A	G	8: 12,655,974	S183P	probably benign	Het
Zfat	C	A	15: 68,180,908	E346*	probably null	Het
Zfp54	A	G	17: 21,434,095	T284A	probably benign	Het

Other mutations in Lnx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02593:Lnx2	APN	5	147033015	missense	possibly damaging	0.81
IGL02657:Lnx2	APN	5	147028174	missense	probably damaging	1.00
IGL02820:Lnx2	APN	5	147042067	missense	probably damaging	0.98
R0051:Lnx2	UTSW	5	147029353	missense	probably damaging	0.96
R0389:Lnx2	UTSW	5	147019040	missense	possibly damaging	0.51
R0482:Lnx2	UTSW	5	147018961	missense	probably damaging	0.99
R1601:Lnx2	UTSW	5	147033519	missense	probably damaging	0.99
R1604:Lnx2	UTSW	5	147029325	missense	probably benign	0.02
R1647:Lnx2	UTSW	5	147027342	missense	probably benign	0.04
R3001:Lnx2	UTSW	5	147019015	missense	probably benign	0.00
R3002:Lnx2	UTSW	5	147019015	missense	probably benign	0.00
R4734:Lnx2	UTSW	5	147029137	missense	probably damaging	1.00
R4960:Lnx2	UTSW	5	147019040	missense	probably benign	0.09
R5387:Lnx2	UTSW	5	147028154	missense	probably benign	0.00
R5689:Lnx2	UTSW	5	147029151	missense	probably damaging	1.00
R5950:Lnx2	UTSW	5	147024350	critical splice donor site	probably null
R6161:Lnx2	UTSW	5	147042026	splice site	probably null
R6623:Lnx2	UTSW	5	147024487	missense	probably damaging	1.00
R7086:Lnx2	UTSW	5	147020178	splice site	probably null
R7320:Lnx2	UTSW	5	147020133	missense	possibly damaging	0.71
R7887:Lnx2	UTSW	5	147019043	missense	probably damaging	1.00
R7970:Lnx2	UTSW	5	147019043	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCTCTTGGTACCTTGGCAG -3'
(R):5'- TGTCCTTGGTAGCACAGAAAAGC -3'

Sequencing Primer
(F):5'- TACCTTGGCAGCCCGAG -3'
(R):5'- CAAATGCTTTTGTAAAACCCCACTTC -3'

Posted On

2019-11-12