Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02814:Lrrn1'

360732

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lrrn1

Ensembl Gene

ENSMUSG00000034648

Gene Name

leucine rich repeat protein 1, neuronal

Synonyms

2810047E21Rik, NLRR-1

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.477) question?

Stock #

IGL02814

Quality Score

Status

Chromosome

Chromosomal Location

107529768-107570214 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 107567352 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 37 (V37D)

Ref Sequence

ENSEMBL: ENSMUSP00000037096 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049285]

AlphaFold

Q61809

Predicted Effect

probably damaging
Transcript: ENSMUST00000049285
AA Change: V37D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000037096
Gene: ENSMUSG00000034648
AA Change: V37D

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
LRRNT	31	76	2.89e-1	SMART
LRR	94	117	1.06e1	SMART
LRR	118	141	1.89e-1	SMART
LRR_TYP	142	165	4.3e-5	SMART
LRR	166	189	1.76e-1	SMART
LRR	214	237	4.09e1	SMART
LRR	238	261	1.53e1	SMART
LRR	262	285	2.63e0	SMART
LRR	311	335	1.45e2	SMART
LRR	336	359	4.21e1	SMART
LRRCT	371	423	2.14e-10	SMART
IGc2	438	506	6.34e-15	SMART
FN3	523	605	8.71e-2	SMART
transmembrane domain	631	653	N/A	INTRINSIC
low complexity region	690	701	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mutant mice exhibited decreased exploratory activity and the female mutants exhibited an increased anxiety-like response during open field testing. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700081O15Rik	C	A	19: 7,420,422	N111K	possibly damaging	Het
Abca9	A	T	11: 110,154,467	F347I	possibly damaging	Het
Adcy5	A	G	16: 35,303,649	T1233A	probably benign	Het
Blnk	C	T	19: 40,962,429	D93N	probably damaging	Het
Cadps2	T	C	6: 23,321,707	E1083G	probably damaging	Het
Capn8	C	A	1: 182,598,771	L224M	probably damaging	Het
Cdh4	A	T	2: 179,780,474	E130D	probably benign	Het
Cgn	G	A	3: 94,774,240	T515M	probably benign	Het
Chrna10	C	T	7: 102,112,262	G374D	probably benign	Het
Chrnb1	T	A	11: 69,795,680	Y38F	probably damaging	Het
Cyld	A	G	8: 88,744,897	D621G	probably benign	Het
Cyp4f37	T	C	17: 32,634,671	F443S	probably benign	Het
Dctn1	C	A	6: 83,189,914	A152E	probably damaging	Het
Eml4	T	A	17: 83,441,362	Y228*	probably null	Het
Fbln2	T	A	6: 91,265,857	C846*	probably null	Het
Fut2	C	T	7: 45,650,769	G193E	possibly damaging	Het
Gart	T	C	16: 91,623,457	S833G	possibly damaging	Het
Gda	T	C	19: 21,428,475		probably null	Het
Gjb5	C	T	4: 127,355,562	R263Q	probably benign	Het
Gtf2i	T	C	5: 134,286,704	K193E	probably damaging	Het
Hist2h4	C	A	3: 96,263,287	K6N	probably benign	Het
Ints1	C	T	5: 139,772,391	E244K	possibly damaging	Het
Kat14	G	A	2: 144,402,463	S412N	probably benign	Het
Kcnn3	A	T	3: 89,521,175	H236L	possibly damaging	Het
Kif15	T	A	9: 123,003,640	I1005K	possibly damaging	Het
Klrc1	T	C	6: 129,678,892	T7A	possibly damaging	Het
Lcp2	T	C	11: 34,071,033	S130P	probably damaging	Het
Ldha	T	A	7: 46,850,891	Y133*	probably null	Het
Lrp2	A	G	2: 69,506,736	C1231R	probably damaging	Het
Mep1a	T	A	17: 43,477,221	H648L	probably benign	Het
Mmp25	C	T	17: 23,639,762	G272R	probably damaging	Het
Myh15	A	G	16: 49,145,438		probably benign	Het
Myl3	G	T	9: 110,767,991	E140*	probably null	Het
Nlrp4f	A	G	13: 65,185,042	S809P	probably damaging	Het
Nrde2	T	C	12: 100,144,135	I207M	probably null	Het
Olfr1373	C	T	11: 52,144,810	C240Y	probably damaging	Het
Olfr474	T	C	7: 107,954,770	I43T	probably benign	Het
Olfr541	T	C	7: 140,705,133	L294P	probably damaging	Het
Paics	T	G	5: 76,962,473	V245G	probably damaging	Het
Pank1	A	G	19: 34,840,855	F95L	probably damaging	Het
Pde4dip	A	C	3: 97,767,100	C167G	probably damaging	Het
Picalm	C	A	7: 90,191,749	T542K	possibly damaging	Het
Piezo1	A	G	8: 122,498,215	Y651H	probably damaging	Het
Pikfyve	T	A	1: 65,250,194	C1208*	probably null	Het
Pkd1l1	T	A	11: 8,902,582	T634S	probably benign	Het
Rab32	T	C	10: 10,546,427	T183A	probably benign	Het
Rad18	T	C	6: 112,644,622	I206V	possibly damaging	Het
Rbm15b	T	C	9: 106,885,776	I398V	probably benign	Het
Rbm28	T	C	6: 29,159,726	E101G	probably benign	Het
Rsf1	T	C	7: 97,661,227	L388P	probably damaging	Het
Scnn1g	A	G	7: 121,740,365	Y129C	probably damaging	Het
Slc7a13	G	A	4: 19,839,387	C330Y	probably benign	Het
Spock1	A	T	13: 57,587,673	V101E	probably damaging	Het
Sympk	T	A	7: 19,053,273	W1029R	probably damaging	Het
Syne2	T	A	12: 75,945,376	H2008Q	possibly damaging	Het
Tgs1	T	A	4: 3,585,719	Y199N	probably damaging	Het
Trim10	T	A	17: 36,877,336	C481*	probably null	Het
Vmn2r102	A	G	17: 19,677,908	E395G	probably damaging	Het
Wfs1	A	C	5: 36,967,669	V626G	possibly damaging	Het
Zfp689	A	G	7: 127,445,021	S146P	possibly damaging	Het
Zfp786	T	C	6: 47,819,841	H721R	probably damaging	Het

Other mutations in Lrrn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00834:Lrrn1	APN	6	107568308	missense	probably benign	0.06
IGL00949:Lrrn1	APN	6	107569300	missense	probably benign	0.15
IGL01594:Lrrn1	APN	6	107567493	missense	probably damaging	0.99
IGL02824:Lrrn1	APN	6	107568534	missense	possibly damaging	0.57
IGL02931:Lrrn1	APN	6	107567748	missense	probably damaging	1.00
R0399:Lrrn1	UTSW	6	107569120	missense	probably benign
R1109:Lrrn1	UTSW	6	107567264	missense	probably benign
R1620:Lrrn1	UTSW	6	107568366	missense	probably damaging	1.00
R1826:Lrrn1	UTSW	6	107567568	missense	probably benign	0.05
R1893:Lrrn1	UTSW	6	107568122	missense	possibly damaging	0.82
R2327:Lrrn1	UTSW	6	107568833	missense	probably benign	0.05
R3684:Lrrn1	UTSW	6	107567949	missense	probably benign	0.13
R3757:Lrrn1	UTSW	6	107569208	missense	possibly damaging	0.81
R4538:Lrrn1	UTSW	6	107568637	missense	probably benign	0.21
R4922:Lrrn1	UTSW	6	107568350	missense	probably damaging	1.00
R4946:Lrrn1	UTSW	6	107568890	missense	probably benign	0.16
R4970:Lrrn1	UTSW	6	107569344	missense	probably benign	0.06
R4977:Lrrn1	UTSW	6	107568707	missense	probably benign
R5121:Lrrn1	UTSW	6	107569207	missense	possibly damaging	0.89
R5186:Lrrn1	UTSW	6	107569224	missense	probably damaging	1.00
R5625:Lrrn1	UTSW	6	107567354	missense	probably damaging	0.99
R5736:Lrrn1	UTSW	6	107567384	missense	probably damaging	1.00
R5873:Lrrn1	UTSW	6	107568975	missense	probably damaging	0.98
R5949:Lrrn1	UTSW	6	107567504	missense	probably benign	0.00
R6046:Lrrn1	UTSW	6	107568527	missense	probably benign	0.00
R6370:Lrrn1	UTSW	6	107569224	missense	probably damaging	1.00
R7138:Lrrn1	UTSW	6	107568375	missense	probably damaging	1.00
R7169:Lrrn1	UTSW	6	107567604	missense	probably damaging	1.00
R7413:Lrrn1	UTSW	6	107569122	missense	probably benign	0.00
R7449:Lrrn1	UTSW	6	107568521	missense	possibly damaging	0.91
R7969:Lrrn1	UTSW	6	107567850	missense	probably damaging	1.00
R8077:Lrrn1	UTSW	6	107568822	missense	probably damaging	0.99
R8288:Lrrn1	UTSW	6	107566994	start gained	probably benign
R8420:Lrrn1	UTSW	6	107569333	missense	probably benign	0.00
R8725:Lrrn1	UTSW	6	107567342	nonsense	probably null
R9007:Lrrn1	UTSW	6	107567859	missense	probably damaging	0.99
R9133:Lrrn1	UTSW	6	107567607	missense	probably damaging	1.00
R9367:Lrrn1	UTSW	6	107568132	missense	probably damaging	0.98
R9373:Lrrn1	UTSW	6	107568504	missense	possibly damaging	0.82
R9475:Lrrn1	UTSW	6	107568300	missense	probably damaging	1.00
R9513:Lrrn1	UTSW	6	107568544	missense	probably benign	0.04
R9516:Lrrn1	UTSW	6	107568544	missense	probably benign	0.04
R9549:Lrrn1	UTSW	6	107569017	missense	probably damaging	1.00

Posted On

2015-12-18