Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03061:Lrrc32'

409437

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lrrc32

Ensembl Gene

ENSMUSG00000090958

Gene Name

leucine rich repeat containing 32

Synonyms

D7H11S833E, EG434215, D11S833Eh, Garp

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.295) question?

Stock #

IGL03061

Quality Score

Status

Chromosome

Chromosomal Location

98138515-98151038 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 98148629 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 470 (T470S)

Ref Sequence

ENSEMBL: ENSMUSP00000145859 (fasta)

Gene Model

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

AlphaFold

G3XA59

Predicted Effect

probably benign
Transcript: ENSMUST00000165205
AA Change: T470S

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000133205
Gene: ENSMUSG00000090958
AA Change: T470S

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: T470S

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl1	T	A	8: 46,961,374 (GRCm39)	N106K	probably damaging	Het
Ak8	T	C	2: 28,632,767 (GRCm39)		probably benign	Het
BC016579	C	T	16: 45,449,849 (GRCm39)	G190S	probably damaging	Het
C4bp	A	G	1: 130,564,454 (GRCm39)	V410A	probably damaging	Het
Cacna2d3	T	C	14: 28,780,388 (GRCm39)	T658A	probably damaging	Het
Cadps2	T	C	6: 23,287,659 (GRCm39)		probably null	Het
Car10	G	T	11: 93,381,351 (GRCm39)	V105F	probably damaging	Het
Car15	C	T	16: 17,653,249 (GRCm39)	C306Y	possibly damaging	Het
Casr	C	T	16: 36,316,250 (GRCm39)	A530T	probably benign	Het
Col5a3	A	G	9: 20,708,868 (GRCm39)		probably null	Het
Creld1	A	G	6: 113,465,058 (GRCm39)	E95G	probably damaging	Het
Dcstamp	T	A	15: 39,623,793 (GRCm39)	D366E	possibly damaging	Het
Dnah11	T	C	12: 117,866,856 (GRCm39)	Y4095C	probably damaging	Het
Eps8l2	A	G	7: 140,937,148 (GRCm39)		probably benign	Het
Gsn	T	C	2: 35,172,471 (GRCm39)		probably benign	Het
Ifi27l2a	T	C	12: 103,401,803 (GRCm39)	V30A	possibly damaging	Het
Ifit1bl2	C	T	19: 34,597,124 (GRCm39)	R164Q	probably benign	Het
Impg2	T	C	16: 56,088,779 (GRCm39)	S1102P	probably damaging	Het
Kif24	G	T	4: 41,394,323 (GRCm39)	P984Q	possibly damaging	Het
Krtap29-1	T	A	11: 99,869,455 (GRCm39)	Q142L	possibly damaging	Het
Lpar6	C	T	14: 73,476,510 (GRCm39)	T157I	probably benign	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Mroh9	A	T	1: 162,854,071 (GRCm39)	H776Q	probably damaging	Het
Myh7	T	C	14: 55,228,661 (GRCm39)		probably benign	Het
Myh7b	A	G	2: 155,462,031 (GRCm39)	N309S	possibly damaging	Het
Myo5b	A	T	18: 74,767,630 (GRCm39)	T313S	probably benign	Het
Myo5b	G	A	18: 74,713,615 (GRCm39)		probably benign	Het
Npas4	C	T	19: 5,036,365 (GRCm39)	V600M	probably damaging	Het
Nrxn3	T	A	12: 89,478,698 (GRCm39)	Y557*	probably null	Het
Or2aj4	T	C	16: 19,385,463 (GRCm39)	T57A	possibly damaging	Het
Or52k2	A	G	7: 102,253,946 (GRCm39)	I128M	probably damaging	Het
Or8g53	T	A	9: 39,683,458 (GRCm39)	T213S	probably benign	Het
Pcdh15	A	G	10: 74,152,843 (GRCm39)	I383V	probably damaging	Het
Pdzrn3	C	A	6: 101,128,816 (GRCm39)	D617Y	probably damaging	Het
Prodh2	A	T	7: 30,212,258 (GRCm39)	K408*	probably null	Het
Ptprs	T	C	17: 56,725,830 (GRCm39)	I1052V	probably damaging	Het
Rpl14	T	C	9: 120,401,193 (GRCm39)	V12A	probably damaging	Het
Sf3a1	C	T	11: 4,125,493 (GRCm39)	R428C	probably damaging	Het
Sgsm2	G	T	11: 74,741,962 (GRCm39)	N1009K	probably damaging	Het
Slc28a2	A	T	2: 122,284,980 (GRCm39)	I323F	probably damaging	Het
Snx19	T	A	9: 30,344,928 (GRCm39)	F676I	probably damaging	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Tg	A	C	15: 66,543,254 (GRCm39)	D56A	probably damaging	Het
Tln1	G	T	4: 43,545,694 (GRCm39)	A928E	probably damaging	Het
Tmem94	T	C	11: 115,683,247 (GRCm39)	S677P	possibly damaging	Het
Ttc41	C	A	10: 86,572,721 (GRCm39)	H698N	possibly damaging	Het
Vcan	T	C	13: 89,851,394 (GRCm39)	T1189A	probably benign	Het
Vmn1r215	G	T	13: 23,260,088 (GRCm39)	V43F	probably damaging	Het
Vmn2r28	A	T	7: 5,487,015 (GRCm39)	N549K	probably damaging	Het
Zfp598	T	C	17: 24,898,566 (GRCm39)	V455A	probably benign	Het

Other mutations in Lrrc32

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01447:Lrrc32	APN	7	98,147,583 (GRCm39)	missense	probably damaging	1.00
IGL01484:Lrrc32	APN	7	98,143,442 (GRCm39)	missense	probably damaging	0.99
IGL01608:Lrrc32	APN	7	98,148,564 (GRCm39)	missense	probably benign	0.01
IGL02025:Lrrc32	APN	7	98,148,767 (GRCm39)	missense	probably benign	0.00
IGL02026:Lrrc32	APN	7	98,148,767 (GRCm39)	missense	probably benign	0.00
IGL03191:Lrrc32	APN	7	98,147,454 (GRCm39)	missense	possibly damaging	0.66
R0706:Lrrc32	UTSW	7	98,148,917 (GRCm39)	missense	probably damaging	1.00
R0947:Lrrc32	UTSW	7	98,148,090 (GRCm39)	missense	probably benign
R1470:Lrrc32	UTSW	7	98,148,564 (GRCm39)	missense	probably benign
R1470:Lrrc32	UTSW	7	98,148,564 (GRCm39)	missense	probably benign
R2879:Lrrc32	UTSW	7	98,148,984 (GRCm39)	missense	probably benign	0.02
R3608:Lrrc32	UTSW	7	98,148,393 (GRCm39)	missense	probably benign	0.09
R4417:Lrrc32	UTSW	7	98,148,144 (GRCm39)	missense	probably benign	0.01
R4798:Lrrc32	UTSW	7	98,148,224 (GRCm39)	missense	probably damaging	1.00
R4872:Lrrc32	UTSW	7	98,147,727 (GRCm39)	missense	probably damaging	0.99
R5813:Lrrc32	UTSW	7	98,147,618 (GRCm39)	missense	probably damaging	1.00
R6062:Lrrc32	UTSW	7	98,147,748 (GRCm39)	missense	probably benign	0.00
R6742:Lrrc32	UTSW	7	98,148,039 (GRCm39)	missense	probably benign	0.00
R6930:Lrrc32	UTSW	7	98,148,471 (GRCm39)	missense	possibly damaging	0.89
R7265:Lrrc32	UTSW	7	98,148,644 (GRCm39)	missense	probably damaging	1.00
R7367:Lrrc32	UTSW	7	98,148,086 (GRCm39)	nonsense	probably null
R7372:Lrrc32	UTSW	7	98,149,014 (GRCm39)	missense	probably benign	0.28
R7414:Lrrc32	UTSW	7	98,149,201 (GRCm39)	missense	probably benign	0.01
R7485:Lrrc32	UTSW	7	98,147,414 (GRCm39)	missense	possibly damaging	0.94
R7679:Lrrc32	UTSW	7	98,148,894 (GRCm39)	missense	possibly damaging	0.91
R7713:Lrrc32	UTSW	7	98,148,545 (GRCm39)	missense	probably damaging	0.99
R8782:Lrrc32	UTSW	7	98,148,270 (GRCm39)	missense	probably damaging	1.00
R8815:Lrrc32	UTSW	7	98,148,242 (GRCm39)	missense	probably damaging	1.00
R9190:Lrrc32	UTSW	7	98,148,234 (GRCm39)	missense	probably benign	0.00
R9258:Lrrc32	UTSW	7	98,148,345 (GRCm39)	missense	probably benign	0.02
R9367:Lrrc32	UTSW	7	98,148,937 (GRCm39)	missense	probably damaging	1.00
Z1088:Lrrc32	UTSW	7	98,148,267 (GRCm39)	missense	probably benign	0.03

Posted On

2016-08-02