Mutagenetix > Incidental Mutation

Incidental Mutation 'R4207:Lingo2'

318956

Institutional Source

Beutler Lab

Gene Symbol

Lingo2

Ensembl Gene

ENSMUSG00000045083

Gene Name

leucine rich repeat and Ig domain containing 2

Synonyms

Lrrn6c, LERN3, B230217C06Rik

MMRRC Submission

041036-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R4207 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35706647-36951747 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35709810 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 57 (I57V)

Ref Sequence

ENSEMBL: ENSMUSP00000130423 (fasta)

Gene Model

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

AlphaFold

Q3URE9

Predicted Effect

probably benign
Transcript: ENSMUST00000065173
AA Change: I57V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000069772
Gene: ENSMUSG00000045083
AA Change: I57V

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

probably benign
Transcript: ENSMUST00000098151
AA Change: I57V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000095754
Gene: ENSMUSG00000045083
AA Change: I57V

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

probably benign
Transcript: ENSMUST00000108122
AA Change: I57V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000103757
Gene: ENSMUSG00000045083
AA Change: I57V

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

probably benign
Transcript: ENSMUST00000108124
AA Change: I57V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000103759
Gene: ENSMUSG00000045083
AA Change: I57V

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

probably benign
Transcript: ENSMUST00000164772
AA Change: I57V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000130423
Gene: ENSMUSG00000045083
AA Change: I57V

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

Meta Mutation Damage Score

0.0700

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	G	A	11: 109,981,725	Q17*	probably null	Het
Acap2	T	A	16: 31,119,427	N293I	probably damaging	Het
Adgrg4	G	A	X: 56,918,749	V1893I	possibly damaging	Het
Aff1	T	C	5: 103,818,988		probably null	Het
Ap1b1	A	G	11: 5,031,637	D515G	probably damaging	Het
Brk1	T	C	6: 113,615,844	Y63H	possibly damaging	Het
Cand1	T	C	10: 119,211,845	D580G	probably damaging	Het
Casp4	A	G	9: 5,328,451	D311G	probably benign	Het
Crygs	C	T	16: 22,805,551	G102D	possibly damaging	Het
Ctnnd2	G	T	15: 30,972,827	V1033F	probably damaging	Het
Dhx29	G	T	13: 112,927,949	A53S	probably benign	Het
Dis3	T	G	14: 99,095,316	I227L	probably benign	Het
Efhc2	T	C	X: 17,230,550	N186S	possibly damaging	Het
Efl1	T	C	7: 82,750,816	V592A	probably damaging	Het
Elovl7	A	T	13: 108,282,506	Q224L	possibly damaging	Het
Fcgr3	T	A	1: 171,054,075	K160N	probably benign	Het
Flg	A	G	3: 93,279,862	Y207C	probably benign	Het
Fmn2	A	G	1: 174,581,955	T585A	unknown	Het
Gm7135	T	C	1: 97,469,895		noncoding transcript	Het
Gm8104	G	T	14: 43,101,634	D94Y	probably damaging	Het
Hjurp	G	C	1: 88,277,215		probably benign	Het
Ino80b	G	C	6: 83,122,333	P178R	probably damaging	Het
Kbtbd4	T	C	2: 90,909,755	F495L	probably damaging	Het
Me2	T	C	18: 73,791,085	K352R	probably benign	Het
Mthfsd	A	G	8: 121,105,626	V133A	probably damaging	Het
Nav2	T	A	7: 49,572,298		probably null	Het
Nav2	T	A	7: 49,597,231	I2168N	probably damaging	Het
Nlrp10	T	A	7: 108,924,341	D644V	possibly damaging	Het
Olfr1472	T	C	19: 13,454,471	I15M	probably benign	Het
Olfr148	A	G	9: 39,613,957	Y130C	possibly damaging	Het
Olfr15	T	C	16: 3,839,570	L199P	probably damaging	Het
Oplah	C	T	15: 76,302,710	R635H	probably damaging	Het
Peli1	A	G	11: 21,147,115		probably null	Het
Pfkfb1	A	T	X: 150,622,188	D208V	possibly damaging	Het
Pld5	T	G	1: 175,993,875	T242P	probably damaging	Het
Rbm5	A	G	9: 107,750,483	S420P	probably benign	Het
Rhag	A	T	17: 40,831,653	I250F	probably damaging	Het
Rnase4	A	G	14: 51,105,005	K62R	probably benign	Het
Scaf4	C	T	16: 90,260,215	V83I	unknown	Het
Slc24a2	A	G	4: 87,227,205	V204A	probably damaging	Het
Slc5a8	G	T	10: 88,911,413	L409F	probably damaging	Het
Spns3	A	T	11: 72,538,361	V199E	probably damaging	Het
Sspo	A	G	6: 48,478,293	T3030A	probably benign	Het
Sstr2	A	C	11: 113,624,656	T134P	probably damaging	Het
Stk39	G	T	2: 68,220,920	T527K	probably benign	Het
Sult2a1	T	A	7: 13,801,547	T194S	probably benign	Het
Tamm41	AGGG	AGG	6: 115,012,359		probably benign	Het
Trav7-3	A	G	14: 53,443,746	T82A	probably benign	Het
Umodl1	G	A	17: 30,959,367	V106I	probably damaging	Het
Vmn2r85	A	C	10: 130,418,705	C703W	probably damaging	Het
Vmn2r92	G	A	17: 18,184,261	V556M	possibly damaging	Het
Zfp292	T	C	4: 34,806,079	I2322V	probably benign	Het
Zfp644	T	C	5: 106,618,276	E93G	probably damaging	Het
Zfp81	C	T	17: 33,334,916	C308Y	probably 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
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
R7629:Lingo2	UTSW	4	35708675	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
R9612:Lingo2	UTSW	4	35708450	missense	probably damaging	0.99
R9633:Lingo2	UTSW	4	35709885	missense
R9764:Lingo2	UTSW	4	35709750	missense	possibly damaging	0.55
R9775:Lingo2	UTSW	4	35708781	missense	probably benign	0.16
Z1177:Lingo2	UTSW	4	35709656	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- TAAAGGGACCAACTTAAGGCGATTG -3'
(R):5'- CCCGTAACCAAGGTGTAGAC -3'

Sequencing Primer
(F):5'- ATTGCCTTTTAGGCGGAG -3'
(R):5'- CAAAGAAGTGGAGTCATGCTTC -3'

Posted On

2015-06-10