Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01608:Lrrc32'

91872

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 #

IGL01608

Quality Score

Status

Chromosome

Chromosomal Location

98138515-98151038 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 98148564 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 448 (V448D)

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: V448D

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000133205
Gene: ENSMUSG00000090958
AA Change: V448D

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: V448D

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	T	4: 53,038,158 (GRCm39)	L2068Q	probably damaging	Het
Abca12	G	T	1: 71,298,601 (GRCm39)	D2340E	probably damaging	Het
Adcy5	A	G	16: 35,092,535 (GRCm39)	Y632C	probably damaging	Het
Adgrb3	A	G	1: 25,592,855 (GRCm39)	S311P	probably damaging	Het
Adh4	C	T	3: 138,134,788 (GRCm39)		probably benign	Het
Atf2	G	T	2: 73,649,422 (GRCm39)	H396Q	probably damaging	Het
Atp8a1	G	A	5: 67,970,479 (GRCm39)	R74*	probably null	Het
Brpf3	T	C	17: 29,040,491 (GRCm39)	S971P	probably benign	Het
Btn1a1	T	C	13: 23,645,778 (GRCm39)	E197G	probably benign	Het
Ccdc136	C	T	6: 29,406,113 (GRCm39)	A87V	possibly damaging	Het
Celf4	A	G	18: 25,630,560 (GRCm39)	L376P	probably damaging	Het
Chrm3	G	A	13: 9,928,634 (GRCm39)	A134V	possibly damaging	Het
Col19a1	G	A	1: 24,321,626 (GRCm39)	R961C	probably damaging	Het
Cr2	A	G	1: 194,837,528 (GRCm39)	V1190A	possibly damaging	Het
Dop1a	T	A	9: 86,389,614 (GRCm39)	S515T	probably benign	Het
Eprs1	T	A	1: 185,117,311 (GRCm39)		probably benign	Het
Fbn2	G	T	18: 58,186,776 (GRCm39)	Y1708*	probably null	Het
Glt1d1	A	G	5: 127,741,746 (GRCm39)	N148S	possibly damaging	Het
Gm20425	T	A	9: 103,068,293 (GRCm39)	I44F	probably damaging	Het
Gpr22	T	A	12: 31,758,779 (GRCm39)	K411*	probably null	Het
Ipo11	A	G	13: 106,971,002 (GRCm39)		probably benign	Het
Klri1	T	A	6: 129,675,130 (GRCm39)	N210I	possibly damaging	Het
Kmt2c	C	T	5: 25,559,809 (GRCm39)	V950M	probably damaging	Het
Knop1	T	C	7: 118,445,019 (GRCm39)	K315R	probably benign	Het
Krt90	A	G	15: 101,471,064 (GRCm39)	I66T	probably benign	Het
Met	T	C	6: 17,558,729 (GRCm39)	V1119A	probably damaging	Het
Minar1	T	C	9: 89,478,551 (GRCm39)	T832A	probably benign	Het
Mipep	T	A	14: 61,039,679 (GRCm39)	I236N	possibly damaging	Het
Mrpl45	A	G	11: 97,207,747 (GRCm39)	T81A	probably benign	Het
Mtbp	G	T	15: 55,421,085 (GRCm39)	E24*	probably null	Het
Muc5b	C	T	7: 141,400,174 (GRCm39)	T476I	unknown	Het
Mup6	C	T	4: 60,006,021 (GRCm39)	T163I	probably benign	Het
Myo1g	T	A	11: 6,466,780 (GRCm39)	I278F	possibly damaging	Het
Myo9a	A	T	9: 59,778,119 (GRCm39)	K1292*	probably null	Het
Nbeal1	T	A	1: 60,281,694 (GRCm39)		probably benign	Het
Nck1	C	A	9: 100,379,440 (GRCm39)	R270S	probably benign	Het
Neb	T	C	2: 52,060,548 (GRCm39)	E6035G	probably damaging	Het
Nlrp4f	A	C	13: 65,343,357 (GRCm39)	L96*	probably null	Het
Or11g1	A	T	14: 50,651,910 (GRCm39)	H303L	probably benign	Het
Or4a77	A	T	2: 89,486,835 (GRCm39)		probably benign	Het
Or51l14	A	T	7: 103,101,011 (GRCm39)	I156F	probably benign	Het
Or5t18	A	C	2: 86,636,769 (GRCm39)	Y191*	probably null	Het
Padi2	A	G	4: 140,659,541 (GRCm39)	E282G	probably damaging	Het
Pcdhb4	A	G	18: 37,441,803 (GRCm39)	D371G	probably damaging	Het
Pcdhb8	A	G	18: 37,489,978 (GRCm39)	D552G	probably damaging	Het
Peli3	A	G	19: 4,982,855 (GRCm39)	I270T	probably damaging	Het
Phf20	A	G	2: 156,118,516 (GRCm39)	M407V	probably benign	Het
Ppm1h	C	T	10: 122,777,185 (GRCm39)	R103*	probably null	Het
Rangap1	C	T	15: 81,593,705 (GRCm39)	V457M	probably benign	Het
Scube2	A	G	7: 109,442,461 (GRCm39)	V257A	probably benign	Het
Shc1	C	A	3: 89,332,156 (GRCm39)	Q204K	probably damaging	Het
Slc6a4	T	A	11: 76,917,961 (GRCm39)	Y568N	probably damaging	Het
Srgap3	A	G	6: 112,923,439 (GRCm39)	F7L	probably benign	Het
St6galnac4	T	A	2: 32,484,098 (GRCm39)	C99S	probably damaging	Het
Strc	T	C	2: 121,206,075 (GRCm39)	D779G	probably benign	Het
Supt6	A	T	11: 78,116,309 (GRCm39)	Y685N	probably damaging	Het
Traf3ip3	T	C	1: 192,869,418 (GRCm39)	T256A	probably benign	Het
Vmn1r74	A	T	7: 11,581,560 (GRCm39)	I287F	probably damaging	Het
Zmym2	C	A	14: 57,185,472 (GRCm39)	Q1035K	possibly damaging	Het
Zswim3	G	A	2: 164,663,440 (GRCm39)	R640H	probably damaging	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
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
IGL03061:Lrrc32	APN	7	98,148,629 (GRCm39)	missense	probably benign	0.04
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

2013-12-09