Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02026:Lrrc32'

184159

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lrrc32

Ensembl Gene

ENSMUSG00000090958

Gene Name

leucine rich repeat containing 32

Synonyms

D7H11S833E, EG434215, Garp, D11S833Eh

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.310) question?

Stock #

IGL02026

Quality Score

Status

Chromosome

Chromosomal Location

98489283-98502181 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 98499560 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 516 (R516C)

Ref Sequence

ENSEMBL: ENSMUSP00000145859 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000165205] [ENSMUST00000205937] [ENSMUST00000205956]

Predicted Effect

probably benign
Transcript: ENSMUST00000165205
AA Change: R516C

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000133205
Gene: ENSMUSG00000090958
AA Change: R516C

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Blast:LRRNT	22	54	3e-12	BLAST
LRR_TYP	73	96	9.44e-2	SMART
LRR	97	123	1.86e2	SMART
LRR	124	148	3.01e2	SMART
LRR	149	172	5.41e0	SMART
LRR	173	196	1.51e0	SMART
LRR_TYP	197	220	7.67e-2	SMART
LRR	265	287	1.49e2	SMART
LRR	315	338	4.97e0	SMART
LRR	339	362	8.01e0	SMART
LRR	363	384	5.57e1	SMART
LRR_TYP	386	409	3.44e-4	SMART
low complexity region	425	437	N/A	INTRINSIC
LRR	443	466	2.33e2	SMART
LRR	514	536	2.03e1	SMART
LRR	537	559	2.61e1	SMART
Blast:LRR	561	588	6e-11	BLAST
transmembrane domain	630	652	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000205937

Predicted Effect

probably benign
Transcript: ENSMUST00000205956
AA Change: R516C

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type I membrane protein which contains 20 leucine-rich repeats. Alterations in the chromosomal region 11q13-11q14 are involved in several pathologies. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a conditional allele activated in T cells exhibit reduced regulatory T cell ability to drive Th17 differentiation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	A	T	14: 68,571,802	V237E	possibly damaging	Het
Amh	T	C	10: 80,805,408	L54P	probably damaging	Het
Aoc3	T	C	11: 101,337,595	S743P	probably benign	Het
Arhgap23	T	A	11: 97,451,581	W19R	probably damaging	Het
Atm	C	T	9: 53,442,417		probably null	Het
BC100530	C	A	16: 36,367,486	V6F	possibly damaging	Het
Ccdc47	T	C	11: 106,205,027	E281G	probably damaging	Het
Col7a1	A	C	9: 108,968,029	K1650N	probably damaging	Het
Evi2b	T	C	11: 79,515,787	S321G	probably damaging	Het
Fancm	T	G	12: 65,105,734	V988G	probably benign	Het
Gbp2	A	G	3: 142,633,480	Y431C	probably damaging	Het
Gclc	T	C	9: 77,792,060	V530A	probably benign	Het
Gm4985	T	G	X: 23,957,994	H314P	probably damaging	Het
Gm5885	T	C	6: 133,531,328		noncoding transcript	Het
Hlcs	A	T	16: 94,134,705	I576N	probably damaging	Het
Hnrnpul1	A	T	7: 25,745,162	F240L	probably damaging	Het
Itgb6	C	A	2: 60,628,066	V448F	possibly damaging	Het
Lama1	A	G	17: 67,809,292	T2385A	possibly damaging	Het
Lamc2	C	T	1: 153,144,736		probably benign	Het
Lrrtm3	T	C	10: 64,088,452	N312S	probably damaging	Het
Ltbp4	G	A	7: 27,327,417	R468*	probably null	Het
Man1a	T	C	10: 54,014,473	E373G	probably damaging	Het
Myo1h	A	T	5: 114,323,444	Q250L	probably null	Het
Myo9a	T	C	9: 59,905,962	V2077A	probably damaging	Het
Olfr114	A	G	17: 37,589,407		probably benign	Het
Otud5	C	T	X: 7,871,993		probably benign	Het
Pcsk1	A	G	13: 75,112,653	S332G	probably benign	Het
Pde8b	A	G	13: 95,034,361	V549A	probably damaging	Het
Pgap1	A	T	1: 54,494,819	M645K	probably benign	Het
Pm20d1	A	T	1: 131,801,759	R175*	probably null	Het
Polr2b	A	G	5: 77,332,252	N585S	probably benign	Het
Recql	T	A	6: 142,366,668	K41*	probably null	Het
Sccpdh	A	T	1: 179,678,069	H138L	possibly damaging	Het
Sec31a	A	T	5: 100,369,626	S951T	probably benign	Het
Slc44a4	A	T	17: 34,921,856		probably benign	Het
Tchhl1	G	T	3: 93,470,555	A189S	probably damaging	Het
Tdrd12	G	A	7: 35,504,233		probably benign	Het
Trbv12-1	A	G	6: 41,113,994	D100G	probably damaging	Het
Ttll13	T	A	7: 80,260,379	S757T	probably benign	Het
Vipas39	T	A	12: 87,251,709		probably benign	Het
Vmn1r64	G	A	7: 5,883,650	P298L	possibly damaging	Het
Vmn1r81	A	G	7: 12,260,505	S59P	probably damaging	Het
Vsx1	A	T	2: 150,688,527	V145D	probably benign	Het
Wdfy4	T	A	14: 33,093,300	N1586I	probably damaging	Het
Zan	T	A	5: 137,405,464		probably benign	Het
Zfp318	C	T	17: 46,396,810	R265*	probably null	Het
Zzef1	T	A	11: 72,881,338	M1707K	probably benign	Het

Other mutations in Lrrc32

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01447:Lrrc32	APN	7	98498376	missense	probably damaging	1.00
IGL01484:Lrrc32	APN	7	98494235	missense	probably damaging	0.99
IGL01608:Lrrc32	APN	7	98499357	missense	probably benign	0.01
IGL02025:Lrrc32	APN	7	98499560	missense	probably benign	0.00
IGL03061:Lrrc32	APN	7	98499422	missense	probably benign	0.04
IGL03191:Lrrc32	APN	7	98498247	missense	possibly damaging	0.66
R0706:Lrrc32	UTSW	7	98499710	missense	probably damaging	1.00
R0947:Lrrc32	UTSW	7	98498883	missense	probably benign
R1470:Lrrc32	UTSW	7	98499357	missense	probably benign
R1470:Lrrc32	UTSW	7	98499357	missense	probably benign
R2879:Lrrc32	UTSW	7	98499777	missense	probably benign	0.02
R3608:Lrrc32	UTSW	7	98499186	missense	probably benign	0.09
R4417:Lrrc32	UTSW	7	98498937	missense	probably benign	0.01
R4798:Lrrc32	UTSW	7	98499017	missense	probably damaging	1.00
R4872:Lrrc32	UTSW	7	98498520	missense	probably damaging	0.99
R5813:Lrrc32	UTSW	7	98498411	missense	probably damaging	1.00
R6062:Lrrc32	UTSW	7	98498541	missense	probably benign	0.00
R6742:Lrrc32	UTSW	7	98498832	missense	probably benign	0.00
R6930:Lrrc32	UTSW	7	98499264	missense	possibly damaging	0.89
R7265:Lrrc32	UTSW	7	98499437	missense	probably damaging	1.00
R7367:Lrrc32	UTSW	7	98498879	nonsense	probably null
R7372:Lrrc32	UTSW	7	98499807	missense	probably benign	0.28
R7414:Lrrc32	UTSW	7	98499994	missense	probably benign	0.01
R7485:Lrrc32	UTSW	7	98498207	missense	possibly damaging	0.94
R7679:Lrrc32	UTSW	7	98499687	missense	possibly damaging	0.91
R7713:Lrrc32	UTSW	7	98499338	missense	probably damaging	0.99
Z1088:Lrrc32	UTSW	7	98499060	missense	probably benign	0.03

Posted On

2014-05-07