Mutagenetix > Incidental Mutations

Incidental Mutation 'R7629:Lingo2'

589536

Institutional Source

Beutler Lab

Gene Symbol

Lingo2

Ensembl Gene

ENSMUSG00000045083

Gene Name

leucine rich repeat and Ig domain containing 2

Synonyms

Lrrn6c, LERN3, B230217C06Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R7629 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35706647-36951747 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35708675 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 435 (D435V)

Ref Sequence

ENSEMBL: ENSMUSP00000069772 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065173] [ENSMUST00000098151] [ENSMUST00000108122] [ENSMUST00000108124] [ENSMUST00000164772]

AlphaFold

Q3URE9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000065173
AA Change: D435V

PolyPhen 2 Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000069772
Gene: ENSMUSG00000045083
AA Change: D435V

Domain	Start	End	E-Value	Type
LRRNT	27	61	1.86e-4	SMART
LRR	80	103	5.89e1	SMART
LRR_TYP	104	127	8.22e-2	SMART
LRR	128	151	6.57e-1	SMART
LRR	152	175	1.31e0	SMART
LRR	176	199	4.83e0	SMART
LRR	200	223	1.62e2	SMART
low complexity region	249	263	N/A	INTRINSIC
LRR	272	295	2.17e-1	SMART
LRR	296	319	8.01e0	SMART
LRR_TYP	320	343	7.15e-2	SMART
LRRCT	355	408	3.7e-2	SMART
IGc2	423	490	9.99e-13	SMART
transmembrane domain	543	565	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098151
AA Change: D435V

PolyPhen 2 Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000095754
Gene: ENSMUSG00000045083
AA Change: D435V

Domain	Start	End	E-Value	Type
LRRNT	27	61	1.86e-4	SMART
LRR	80	103	5.89e1	SMART
LRR_TYP	104	127	8.22e-2	SMART
LRR	128	151	6.57e-1	SMART
LRR	152	175	1.31e0	SMART
LRR	176	199	4.83e0	SMART
LRR	200	223	1.62e2	SMART
low complexity region	249	263	N/A	INTRINSIC
LRR	272	295	2.17e-1	SMART
LRR	296	319	8.01e0	SMART
LRR_TYP	320	343	7.15e-2	SMART
LRRCT	355	408	3.7e-2	SMART
IGc2	423	490	9.99e-13	SMART
transmembrane domain	543	565	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108122
AA Change: D435V

PolyPhen 2 Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103757
Gene: ENSMUSG00000045083
AA Change: D435V

Domain	Start	End	E-Value	Type
LRRNT	27	61	1.86e-4	SMART
LRR	80	103	5.89e1	SMART
LRR_TYP	104	127	8.22e-2	SMART
LRR	128	151	6.57e-1	SMART
LRR	152	175	1.31e0	SMART
LRR	176	199	4.83e0	SMART
LRR	200	223	1.62e2	SMART
low complexity region	249	263	N/A	INTRINSIC
LRR	272	295	2.17e-1	SMART
LRR	296	319	8.01e0	SMART
LRR_TYP	320	343	7.15e-2	SMART
LRRCT	355	408	3.7e-2	SMART
IGc2	423	490	9.99e-13	SMART
transmembrane domain	543	565	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108124
AA Change: D435V

PolyPhen 2 Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103759
Gene: ENSMUSG00000045083
AA Change: D435V

Domain	Start	End	E-Value	Type
LRRNT	27	61	1.86e-4	SMART
LRR	80	103	5.89e1	SMART
LRR_TYP	104	127	8.22e-2	SMART
LRR	128	151	6.57e-1	SMART
LRR	152	175	1.31e0	SMART
LRR	176	199	4.83e0	SMART
LRR	200	223	1.62e2	SMART
low complexity region	249	263	N/A	INTRINSIC
LRR	272	295	2.17e-1	SMART
LRR	296	319	8.01e0	SMART
LRR_TYP	320	343	7.15e-2	SMART
LRRCT	355	408	3.7e-2	SMART
IGc2	423	490	9.99e-13	SMART
transmembrane domain	543	565	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164772
AA Change: D435V

PolyPhen 2 Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000130423
Gene: ENSMUSG00000045083
AA Change: D435V

Domain	Start	End	E-Value	Type
LRRNT	27	61	1.86e-4	SMART
LRR	80	103	5.89e1	SMART
LRR_TYP	104	127	8.22e-2	SMART
LRR	128	151	6.57e-1	SMART
LRR	152	175	1.31e0	SMART
LRR	176	199	4.83e0	SMART
LRR	200	223	1.62e2	SMART
low complexity region	249	263	N/A	INTRINSIC
LRR	272	295	2.17e-1	SMART
LRR	296	319	8.01e0	SMART
LRR_TYP	320	343	7.15e-2	SMART
LRRCT	355	408	3.7e-2	SMART
IGc2	423	490	9.99e-13	SMART
transmembrane domain	543	565	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061N02Rik	G	A	16: 88,707,405	T168I	probably benign	Het
2410089E03Rik	C	T	15: 8,227,067	Q2004*	probably null	Het
Abtb2	T	A	2: 103,683,493		probably null	Het
Ankrd10	A	T	8: 11,615,769	V277E	probably benign	Het
Ankrd28	C	T	14: 31,715,264	V615I	probably benign	Het
Aqr	G	A	2: 114,114,593	P1079L	probably damaging	Het
Brox	G	A	1: 183,292,504	A60V	probably damaging	Het
Copg1	T	C	6: 87,894,169	V289A	possibly damaging	Het
Cyhr1	C	T	15: 76,648,186	D241N	probably benign	Het
D430042O09Rik	T	C	7: 125,795,250	L192P	probably damaging	Het
Dido1	T	C	2: 180,661,473	N1546S	probably benign	Het
Dlg5	G	A	14: 24,245,212	P80L	probably damaging	Het
Dmxl1	T	A	18: 49,859,270	I361N	probably damaging	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Fhod3	T	A	18: 24,754,317	D88E	probably benign	Het
Flywch1	A	G	17: 23,755,770	M632T	probably benign	Het
Henmt1	A	G	3: 108,958,597	T213A	probably benign	Het
Itga9	T	C	9: 118,698,446	V555A	probably benign	Het
Kif13b	C	T	14: 64,779,335	R1317*	probably null	Het
Kndc1	A	T	7: 139,895,260	E25V	probably damaging	Het
Lrrc14b	T	A	13: 74,361,164	M375L	probably benign	Het
Lrrtm2	T	C	18: 35,214,257		probably null	Het
Mgat4c	G	A	10: 102,389,070	V382I	probably benign	Het
Mpp6	T	C	6: 50,196,623	I489T	probably benign	Het
Muc16	T	C	9: 18,566,785	T7075A	possibly damaging	Het
Myo5b	T	A	18: 74,627,254		probably null	Het
Neb	T	C	2: 52,273,961	D1995G	possibly damaging	Het
Nudt9	T	C	5: 104,050,694	V75A	possibly damaging	Het
Olfr1277	C	T	2: 111,269,876	V164I	probably benign	Het
Paf1	T	C	7: 28,395,068	Y35H	probably damaging	Het
Panx3	T	A	9: 37,661,444	Q270L	possibly damaging	Het
Pde6h	G	T	6: 136,959,319	R20L	possibly damaging	Het
Pdxk	A	G	10: 78,445,006	I200T	probably benign	Het
Ppara	A	T	15: 85,798,191	M363L	probably damaging	Het
Prmt8	A	T	6: 127,689,883	L376*	probably null	Het
Serpina1a	G	C	12: 103,853,808	T393R	probably damaging	Het
Sfxn1	C	T	13: 54,093,022	R178C	probably damaging	Het
Sirpb1c	A	T	3: 15,848,395	W7R	possibly damaging	Het
Skint5	T	C	4: 113,942,660	Y104C	probably damaging	Het
Slamf6	A	T	1: 171,936,624	T195S	probably damaging	Het
Slc2a6	T	C	2: 27,024,202	D301G	probably benign	Het
Stab2	A	T	10: 86,883,782		probably null	Het
Tctn3	C	G	19: 40,611,336	D141H	probably damaging	Het
Tnik	A	G	3: 28,661,728	N1164D	probably damaging	Het
Tpcn1	C	T	5: 120,537,937	V711I	probably benign	Het
Trim11	G	A	11: 58,978,334	G32D	probably damaging	Het
Usp32	TTTGGTTG	TTTG	11: 85,019,855		probably null	Het
Vmn1r72	T	C	7: 11,669,784	I246V	probably benign	Het
Zfp362	G	T	4: 128,786,055	R273S	probably damaging	Het
Zfp715	T	C	7: 43,301,676	D66G	possibly damaging	Het

Other mutations in Lingo2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01861:Lingo2	APN	4	35709526	missense	probably benign	0.31
IGL02532:Lingo2	APN	4	35709171	missense	possibly damaging	0.69
IGL02999:Lingo2	APN	4	35708744	missense	probably damaging	1.00
R0077:Lingo2	UTSW	4	35708375	missense	possibly damaging	0.51
R0669:Lingo2	UTSW	4	35709120	missense	probably benign	0.00
R1195:Lingo2	UTSW	4	35708538	missense	probably damaging	1.00
R1195:Lingo2	UTSW	4	35708538	missense	probably damaging	1.00
R1195:Lingo2	UTSW	4	35708538	missense	probably damaging	1.00
R1403:Lingo2	UTSW	4	35709420	missense	possibly damaging	0.83
R1403:Lingo2	UTSW	4	35709420	missense	possibly damaging	0.83
R1552:Lingo2	UTSW	4	35708315	missense	probably damaging	0.99
R2066:Lingo2	UTSW	4	35709179	missense	probably benign
R4207:Lingo2	UTSW	4	35709810	missense	probably benign	0.01
R4208:Lingo2	UTSW	4	35709810	missense	probably benign	0.01
R4326:Lingo2	UTSW	4	35708462	missense	probably damaging	1.00
R4327:Lingo2	UTSW	4	35708462	missense	probably damaging	1.00
R4328:Lingo2	UTSW	4	35708462	missense	probably damaging	1.00
R4474:Lingo2	UTSW	4	35708810	missense	probably benign
R6801:Lingo2	UTSW	4	35709566	missense	probably damaging	0.97
R7343:Lingo2	UTSW	4	35709450	missense	possibly damaging	0.88
R7740:Lingo2	UTSW	4	35709248	missense	probably damaging	0.98
R7867:Lingo2	UTSW	4	35709302	missense	probably benign
R7995:Lingo2	UTSW	4	35709425	missense	probably damaging	1.00
R8909:Lingo2	UTSW	4	35708349	missense	probably damaging	0.99
R9418:Lingo2	UTSW	4	35709035	missense	probably benign	0.38
Z1177:Lingo2	UTSW	4	35709656	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- ATCCCTTCACAGTGAGAGATGC -3'
(R):5'- CAACCCAACCTGCAGTTTG -3'

Sequencing Primer
(F):5'- CTGTGAAGGTATCGTTCCCAGC -3'
(R):5'- AACCTGCAGTTTGGGGGC -3'

Posted On

2019-10-24