Mutagenetix > Incidental Mutation

Incidental Mutation 'R8298:Lnx2'

639071

Institutional Source

Beutler Lab

Gene Symbol

Lnx2

Ensembl Gene

ENSMUSG00000016520

Gene Name

ligand of numb-protein X 2

Synonyms

MMRRC Submission

067786-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.138) question?

Stock #

R8298 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

147016655-147076586 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 147024517 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 535 (M535K)

Ref Sequence

ENSEMBL: ENSMUSP00000016664 (fasta)

Gene Model

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

AlphaFold

Q91XL2

Predicted Effect

probably benign
Transcript: ENSMUST00000016664
AA Change: M535K

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000016664
Gene: ENSMUSG00000016520
AA Change: M535K

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: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

97% (62/64)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930453N24Rik	A	G	16: 64,766,332	L343P	probably benign	Het
Aak1	T	A	6: 86,925,079	F77I	possibly damaging	Het
Abca3	T	C	17: 24,385,401	L582P	probably damaging	Het
Acat1	A	T	9: 53,594,424	S136R	probably damaging	Het
Adamts2	T	C	11: 50,777,131	F507L	possibly damaging	Het
Adcy3	G	A	12: 4,206,482	A763T	probably damaging	Het
Adgrv1	A	T	13: 81,385,914	C5849*	probably null	Het
Adrb2	A	T	18: 62,178,682	N357K	probably benign	Het
Ak9	A	G	10: 41,389,058	E404G		Het
Akap13	T	C	7: 75,747,804	L2576P	probably damaging	Het
Armcx5	AGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTA	AGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTA	X: 135,745,704		probably benign	Het
Arv1	A	G	8: 124,728,372	Y108C	probably damaging	Het
Casp8ap2	T	A	4: 32,640,429	H494Q	probably benign	Het
Ccdc88b	A	G	19: 6,850,281	L951P	probably damaging	Het
D830039M14Rik	A	T	10: 61,475,583	M160K	noncoding transcript	Het
Dbf4	A	G	5: 8,412,115		probably benign	Het
Dennd4a	A	G	9: 64,906,875	D1458G	probably benign	Het
Dock10	T	C	1: 80,536,937	K1422R	probably benign	Het
Dyrk3	C	T	1: 131,129,375	D354N	probably damaging	Het
Epha3	T	A	16: 63,566,598	I892F	probably benign	Het
Evi5	G	A	5: 107,816,865	S317L	possibly damaging	Het
Evl	C	T	12: 108,652,973	P76S	probably benign	Het
Fyb2	A	C	4: 104,948,831	E369D	probably damaging	Het
Gm1000	T	C	12: 104,476,177		probably benign	Het
Gm1979	T	C	5: 26,001,150	N190S	probably damaging	Het
Gm3633	T	C	14: 42,640,718	E72G		Het
Gm5414	T	C	15: 101,624,170	Y506C	unknown	Het
Gm572	T	A	4: 148,658,093	H96Q	possibly damaging	Het
Gml	T	C	15: 74,813,692	E148G	probably damaging	Het
Got1l1	T	C	8: 27,198,558	D255G	probably benign	Het
Hydin	A	G	8: 110,600,383	N4785D	probably damaging	Het
Kcnk12	A	T	17: 87,797,285	F57Y	probably damaging	Het
Klhdc9	C	A	1: 171,358,861	G336C	probably damaging	Het
Kprp	T	C	3: 92,825,300	T148A	probably damaging	Het
Lama3	G	A	18: 12,525,853	R2022Q	probably benign	Het
Lelp1	A	T	3: 92,135,620	S41T	unknown	Het
Mmp9	T	A	2: 164,950,359	F294L	probably null	Het
Myo7a	T	C	7: 98,098,334	Y97C	probably damaging	Het
Nav2	T	C	7: 49,554,261		probably null	Het
Ndufaf3	T	C	9: 108,566,921	T3A	probably benign	Het
Nrxn1	A	G	17: 90,704,169	I344T	probably damaging	Het
Olfr1020	T	C	2: 85,850,189	S246P	probably damaging	Het
Olfr1137	A	T	2: 87,711,032	S291R	probably damaging	Het
Olfr3	T	C	2: 36,813,026	E22G	probably benign	Het
Pccb	T	C	9: 100,985,832	D384G	probably damaging	Het
Plekhg3	C	T	12: 76,577,078	H1032Y	probably damaging	Het
Ppfia3	A	G	7: 45,360,194	S125P	probably damaging	Het
Prl7a2	T	C	13: 27,661,011	M131V	probably benign	Het
Prmt3	A	G	7: 49,857,438	T517A	probably benign	Het
Prpf4b	A	G	13: 34,888,183	H491R	unknown	Het
Rhot1	T	A	11: 80,246,676	C335S	probably benign	Het
Robo1	C	T	16: 72,972,132		probably benign	Het
Samd3	A	T	10: 26,245,570	D195V	probably damaging	Het
Sh3gl2	T	A	4: 85,379,410	D208E	possibly damaging	Het
Spta1	A	T	1: 174,247,387	D2393V	probably damaging	Het
Tgs1	T	C	4: 3,605,840	L785P	probably damaging	Het
Tmem25	C	T	9: 44,798,819		probably benign	Het
Trappc10	A	G	10: 78,202,919	Y780H	probably damaging	Het
Ttn	C	A	2: 76,727,167	W29861L	probably damaging	Het
Usp1	T	A	4: 98,930,899	D199E	probably damaging	Het
Vmn2r40	A	G	7: 8,908,149	I715T		Het
Zfp169	G	A	13: 48,498,377	Q68*	probably null	Het
Zfp418	T	A	7: 7,182,815	Y592*	probably null	Het
Zfp712	A	G	13: 67,040,912	V517A	probably benign	Het
Zfp934	A	T	13: 62,518,481	H146Q		Het
Zgrf1	T	C	3: 127,615,229	S1662P	probably damaging	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
R7701:Lnx2	UTSW	5	147024523	missense	probably damaging	1.00
R7887:Lnx2	UTSW	5	147019043	missense	probably damaging	1.00
R8153:Lnx2	UTSW	5	147028096	missense	probably benign
R8267:Lnx2	UTSW	5	147029091	missense	probably damaging	1.00
R8384:Lnx2	UTSW	5	147029328	missense	probably benign	0.01
R8446:Lnx2	UTSW	5	147033359	missense	probably benign
R8971:Lnx2	UTSW	5	147033426	missense	probably benign
R9378:Lnx2	UTSW	5	147024370	missense	probably benign	0.16
R9468:Lnx2	UTSW	5	147042479	start gained	probably benign
R9711:Lnx2	UTSW	5	147024566	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGAGAGCTCTTGGTACCTTGG -3'
(R):5'- CTTGGTAGCACAGAAAAGCAC -3'

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

Posted On

2020-07-28