Mutagenetix > Incidental Mutation

Incidental Mutation 'R7367:Lrrc32'

571879

Institutional Source

Beutler Lab

Gene Symbol

Lrrc32

Ensembl Gene

ENSMUSG00000090958

Gene Name

leucine rich repeat containing 32

Synonyms

D7H11S833E, EG434215, D11S833Eh, Garp

MMRRC Submission

045451-MU

Accession Numbers

Essential gene?

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

Stock #

R7367 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

98138515-98151038 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 98148086 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 289 (E289*)

Ref Sequence

ENSEMBL: ENSMUSP00000133205 (fasta)

Gene Model

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

AlphaFold

G3XA59

Predicted Effect

probably null
Transcript: ENSMUST00000165205
AA Change: E289*

SMART Domains

Protein: ENSMUSP00000133205
Gene: ENSMUSG00000090958
AA Change: E289*

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 null
Transcript: ENSMUST00000205956
AA Change: E289*

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adh1	A	G	3: 137,996,312 (GRCm39)	T374A	probably benign	Het
Agps	T	A	2: 75,698,657 (GRCm39)	H348Q	possibly damaging	Het
Ankrd34b	C	A	13: 92,574,795 (GRCm39)	T9K	probably benign	Het
Atp10b	A	G	11: 43,138,328 (GRCm39)	Q1203R	probably damaging	Het
B4galnt4	A	G	7: 140,644,388 (GRCm39)	N123D	probably damaging	Het
Ccn6	A	G	10: 39,034,261 (GRCm39)	C114R	probably damaging	Het
Cep250	A	G	2: 155,811,227 (GRCm39)	T358A	probably benign	Het
Cfh	A	T	1: 140,014,259 (GRCm39)	H1188Q	probably damaging	Het
Cisd1	A	G	10: 71,172,190 (GRCm39)	Y31H	probably damaging	Het
Cnga1	G	A	5: 72,762,701 (GRCm39)	S271F	possibly damaging	Het
Cntnap5a	A	G	1: 116,370,025 (GRCm39)	T881A	probably benign	Het
Cracd	T	A	5: 77,004,449 (GRCm39)	L270Q	unknown	Het
Cyp2s1	A	T	7: 25,505,398 (GRCm39)	D355E	possibly damaging	Het
Dnaaf10	A	G	11: 17,182,712 (GRCm39)	Y291C	probably damaging	Het
Dnah11	T	A	12: 117,951,177 (GRCm39)	R3044W	possibly damaging	Het
Dnah17	T	C	11: 118,006,022 (GRCm39)	D730G	probably benign	Het
Dsel	C	T	1: 111,789,303 (GRCm39)	G411S	probably damaging	Het
Epha7	C	T	4: 28,871,937 (GRCm39)	S422L	probably benign	Het
Flacc1	A	T	1: 58,706,023 (GRCm39)	I282N	probably benign	Het
Fsd2	A	G	7: 81,184,928 (GRCm39)	I656T	probably damaging	Het
Gm40460	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	7: 141,794,171 (GRCm39)		probably benign	Het
Gm45871	A	T	18: 90,609,224 (GRCm39)	H154L	probably benign	Het
Golgb1	T	A	16: 36,718,908 (GRCm39)	N312K	probably benign	Het
H2ac4	A	G	13: 23,935,333 (GRCm39)	D73G	possibly damaging	Het
Hsd17b4	T	A	18: 50,288,252 (GRCm39)	H227Q	probably damaging	Het
Hsd17b6	A	T	10: 127,829,492 (GRCm39)	S237T	probably benign	Het
Htra4	A	T	8: 25,523,713 (GRCm39)	V284E	probably damaging	Het
Kcnv1	C	T	15: 44,972,638 (GRCm39)	C415Y	probably damaging	Het
Kif11	T	A	19: 37,408,789 (GRCm39)	L1037H	probably benign	Het
Lama5	T	C	2: 179,834,751 (GRCm39)	T1347A	probably benign	Het
Lrrc66	T	C	5: 73,765,724 (GRCm39)	T440A	probably benign	Het
Neurl4	T	C	11: 69,799,408 (GRCm39)	L928P	probably damaging	Het
Nos2	G	A	11: 78,840,916 (GRCm39)	C788Y	possibly damaging	Het
Or2c1	A	G	16: 3,657,166 (GRCm39)	T110A	probably damaging	Het
Or4x11	A	G	2: 89,868,156 (GRCm39)	S298G	probably benign	Het
Or5m5	T	C	2: 85,814,687 (GRCm39)	W168R	possibly damaging	Het
Pafah1b3	A	G	7: 24,995,491 (GRCm39)	C156R	probably benign	Het
Pak1ip1	T	G	13: 41,162,371 (GRCm39)	N151K	probably damaging	Het
Pax7	G	A	4: 139,507,060 (GRCm39)	P326S	probably benign	Het
Pex11b	G	A	3: 96,543,994 (GRCm39)	A21T	probably damaging	Het
Pkn2	A	G	3: 142,516,488 (GRCm39)	V546A	probably benign	Het
Ppat	T	A	5: 77,067,711 (GRCm39)	R260*	probably null	Het
Ppp1r13l	C	G	7: 19,104,081 (GRCm39)	S187R	probably benign	Het
Pwp2	C	T	10: 78,018,314 (GRCm39)	G126R	probably damaging	Het
R3hdm1	A	G	1: 128,081,129 (GRCm39)	D55G	possibly damaging	Het
Rev1	A	T	1: 38,113,488 (GRCm39)	Y526*	probably null	Het
Rp1	A	G	1: 4,418,221 (GRCm39)	W964R	probably benign	Het
Sarnp	A	G	10: 128,669,247 (GRCm39)	I35V	probably damaging	Het
Sec23a	T	C	12: 59,013,785 (GRCm39)	N730S	probably benign	Het
Sh3d19	A	G	3: 86,011,535 (GRCm39)	K374E	probably benign	Het
Sh3tc2	A	G	18: 62,122,577 (GRCm39)	D446G	probably benign	Het
Sugct	T	A	13: 17,819,399 (GRCm39)	I149F	probably damaging	Het
Tle2	A	G	10: 81,416,152 (GRCm39)	N142S	probably damaging	Het
Tpsg1	G	T	17: 25,592,184 (GRCm39)	G86V	probably damaging	Het
Trpm1	T	A	7: 63,918,549 (GRCm39)	Y1514N	probably benign	Het
Ubr4	C	T	4: 139,180,002 (GRCm39)	S259L	unknown	Het
Utp20	A	T	10: 88,631,305 (GRCm39)	L892Q	probably benign	Het
Zfp956	C	T	6: 47,940,853 (GRCm39)	T404M	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- TGCAGGTACTAGACTTGAGCTG -3'
(R):5'- AGGATCGCAGGCAGTTTCTG -3'

Sequencing Primer
(F):5'- TGCAACAGCATTGAGGCCTTC -3'
(R):5'- CTGCTGAGGTTGAGGAAGC -3'

Posted On

2019-09-13