Mutagenetix > Incidental Mutation

Incidental Mutation 'R8446:Lnx2'

654495

Institutional Source

Beutler Lab

Gene Symbol

Lnx2

Ensembl Gene

ENSMUSG00000016520

Gene Name

ligand of numb-protein X 2

Synonyms

MMRRC Submission

067827-MU

Accession Numbers

Essential gene?

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

Stock #

R8446 (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 G at 147033359 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 191 (L191S)

Ref Sequence

ENSEMBL: ENSMUSP00000016664 (fasta)

Gene Model

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

AlphaFold

Q91XL2

Predicted Effect

probably benign
Transcript: ENSMUST00000016664
AA Change: L191S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000016664
Gene: ENSMUSG00000016520
AA Change: L191S

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: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf2	G	A	5: 24,566,643	R529*	probably null	Het
Afap1	T	A	5: 35,987,301	S122T		Het
Arnt	TG	T	3: 95,474,703		probably null	Het
Bbs1	G	A	19: 4,897,605	T307I	probably benign	Het
Cacna1c	A	T	6: 118,627,450	S1439T		Het
Camk4	T	A	18: 33,156,757	H152Q	probably damaging	Het
Capn2	A	T	1: 182,484,231	M426K	possibly damaging	Het
Chrm3	C	T	13: 9,878,302	G233S	probably damaging	Het
Clca3a1	A	T	3: 144,748,487	Y461N	probably damaging	Het
Clip1	G	C	5: 123,655,945	P12A	probably damaging	Het
Cmya5	A	G	13: 93,093,828	L1584P	possibly damaging	Het
Commd5	T	C	15: 76,900,894	S164P	probably damaging	Het
Csgalnact1	A	G	8: 68,461,091	V154A	probably damaging	Het
Ddias	C	A	7: 92,866,610	C25F	probably damaging	Het
Dnah7b	A	T	1: 46,290,715	I3240F	probably damaging	Het
Fam186a	T	G	15: 99,947,454	D303A	unknown	Het
Igkv8-27	A	G	6: 70,171,948	I74T	probably damaging	Het
Itgb2l	G	T	16: 96,432,657	Q278K	probably damaging	Het
Itgb7	T	C	15: 102,218,608	E464G	probably damaging	Het
Kdm2a	G	A	19: 4,356,888	Q116*	probably null	Het
Krtap5-2	TCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACCACAGCCCCCACAGGAACTACA	TCCACAGGAACTACA	7: 142,175,108		probably benign	Het
Larp1	T	C	11: 58,051,209		probably null	Het
Mtmr7	G	A	8: 40,606,884	A62V	possibly damaging	Het
Myh4	T	A	11: 67,253,521	M1239K	probably benign	Het
Nckap5l	C	A	15: 99,426,049	G858C	probably benign	Het
Nelfa	A	T	5: 33,901,638	L262Q	probably damaging	Het
Olfr137	A	G	17: 38,304,747	V238A	probably benign	Het
Olfr910	A	T	9: 38,539,668	M258L	probably benign	Het
Pdgfa	T	C	5: 138,978,640	T211A	unknown	Het
Prl3d2	A	T	13: 27,123,993	I86F	probably benign	Het
Rpf2	T	A	10: 40,239,756	T76S	probably benign	Het
Setbp1	C	T	18: 78,857,756	D899N	probably damaging	Het
Slc35c1	T	A	2: 92,454,362	E315D	probably benign	Het
Slc6a3	A	T	13: 73,571,555	M568L	possibly damaging	Het
Sorbs1	T	C	19: 40,326,158	M737V	probably benign	Het
Sox17	A	G	1: 4,492,093	Y295H	possibly damaging	Het
Tex44	A	T	1: 86,426,974	I202F	possibly damaging	Het
Tinagl1	C	T	4: 130,166,901		probably null	Het
Tlr4	T	A	4: 66,839,436	N155K	probably damaging	Het
Tmem245	T	C	4: 56,906,261	Q548R	probably benign	Het
Topbp1	T	A	9: 103,308,862	F68I	probably damaging	Het
Trim67	G	T	8: 124,793,991	A31S	probably damaging	Het
Triobp	C	T	15: 78,994,126	H1750Y	possibly damaging	Het
Ttn	A	C	2: 76,948,209	M1316R	unknown	Het
Usp40	T	C	1: 87,978,468	T682A	probably benign	Het
Wfs1	A	T	5: 36,971,609	D272E	probably benign	Het
Zfp763	A	T	17: 33,019,499	M224K	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
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
R8298:Lnx2	UTSW	5	147024517	missense	probably benign	0.05
R8384:Lnx2	UTSW	5	147029328	missense	probably benign	0.01
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'- TTCTCCAGCTCAACACAGGG -3'
(R):5'- CTTTCTAGGTGTCCTGGAGC -3'

Sequencing Primer
(F):5'- ACTCCAGTGCAACTGTCTGGAC -3'
(R):5'- TAGGTGTCCTGGAGCCTCTCAC -3'

Posted On

2020-10-20