Mutagenetix > Incidental Mutation

Incidental Mutation 'R6930:Lrrc32'

539948

Institutional Source

Beutler Lab

Gene Symbol

Lrrc32

Ensembl Gene

ENSMUSG00000090958

Gene Name

leucine rich repeat containing 32

Synonyms

D7H11S833E, EG434215, D11S833Eh, Garp

MMRRC Submission

045046-MU

Accession Numbers

Essential gene?

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

Stock #

R6930 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98138515-98151038 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 98148471 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 417 (N417S)

Ref Sequence

ENSEMBL: ENSMUSP00000145859 (fasta)

Gene Model

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

AlphaFold

G3XA59

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165205
AA Change: N417S

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000133205
Gene: ENSMUSG00000090958
AA Change: N417S

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

possibly damaging
Transcript: ENSMUST00000205956
AA Change: N417S

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 99.0%
20x: 96.5%

Validation Efficiency

100% (63/63)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	A	T	11: 23,466,563 (GRCm39)	D156E	probably benign	Het
Adam17	A	T	12: 21,403,949 (GRCm39)	V99E	probably damaging	Het
Akr1e1	T	C	13: 4,652,714 (GRCm39)	D41G	probably damaging	Het
Alcam	T	C	16: 52,126,018 (GRCm39)	I100V	probably benign	Het
Atr	T	C	9: 95,748,688 (GRCm39)	I411T	probably benign	Het
Bbs4	T	C	9: 59,230,764 (GRCm39)	S453G	probably benign	Het
Brdt	C	T	5: 107,507,081 (GRCm39)	L494F	probably benign	Het
Ccser1	T	C	6: 62,357,009 (GRCm39)	S816P	probably benign	Het
Cdk10	T	C	8: 123,957,347 (GRCm39)	I157T	probably damaging	Het
Ceacam5	G	A	7: 17,484,759 (GRCm39)		probably null	Het
Chst15	T	C	7: 131,870,759 (GRCm39)	I259V	possibly damaging	Het
Cracdl	A	T	1: 37,664,026 (GRCm39)	I624N	possibly damaging	Het
Csmd1	A	T	8: 16,142,409 (GRCm39)	M1498K	probably damaging	Het
D630045J12Rik	T	C	6: 38,135,151 (GRCm39)	D1343G	probably damaging	Het
Denr	T	C	5: 124,046,250 (GRCm39)	Y27H	probably benign	Het
Dop1a	T	C	9: 86,413,825 (GRCm39)		probably null	Het
Epg5	T	C	18: 78,057,378 (GRCm39)	F1819S	probably damaging	Het
Flg2	T	A	3: 93,108,642 (GRCm39)	Y223*	probably null	Het
Fry	T	C	5: 150,351,695 (GRCm39)	L1733P	probably benign	Het
Gabrb2	T	C	11: 42,488,440 (GRCm39)	V302A	probably damaging	Het
Gimap9	G	A	6: 48,654,601 (GRCm39)	D53N	probably damaging	Het
Gje1	G	T	10: 14,593,886 (GRCm39)	L3I	possibly damaging	Het
Gm49383	G	T	12: 69,239,586 (GRCm39)	A645E	probably damaging	Het
Gm8947	G	A	1: 151,068,347 (GRCm39)	G60D	probably damaging	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Gys2	A	G	6: 142,405,106 (GRCm39)		probably null	Het
Hace1	A	G	10: 45,494,598 (GRCm39)	H136R	probably damaging	Het
Herc3	T	G	6: 58,893,444 (GRCm39)	V902G	probably damaging	Het
Hspbp1	T	C	7: 4,687,606 (GRCm39)	R2G	probably benign	Het
Iqch	T	A	9: 63,387,856 (GRCm39)	K811N	possibly damaging	Het
Kmt2a	A	G	9: 44,753,962 (GRCm39)		probably benign	Het
Lonrf2	A	T	1: 38,843,417 (GRCm39)	V372D	probably benign	Het
Lpin2	T	C	17: 71,551,786 (GRCm39)	Y729H	probably damaging	Het
Malrd1	T	A	2: 15,802,478 (GRCm39)	C1064S	unknown	Het
Mast3	G	A	8: 71,252,115 (GRCm39)	R20*	probably null	Het
Mypn	A	C	10: 62,952,718 (GRCm39)	I174S	probably damaging	Het
Nrg1	G	A	8: 32,308,534 (GRCm39)	T505M	probably damaging	Het
Or13p8	A	G	4: 118,584,338 (GRCm39)	K298R	probably damaging	Het
Or6y1	A	G	1: 174,276,677 (GRCm39)	I163V	probably damaging	Het
Or7a42	A	G	10: 78,791,615 (GRCm39)	D192G	possibly damaging	Het
Or7e178	A	G	9: 20,225,395 (GRCm39)	Y266H	probably damaging	Het
Phf3	T	C	1: 30,850,958 (GRCm39)	E1132G	probably damaging	Het
Pla2g4d	A	T	2: 120,101,114 (GRCm39)	M521K	probably damaging	Het
Plekhg1	A	G	10: 3,913,770 (GRCm39)	H1164R	possibly damaging	Het
Plxnb2	A	G	15: 89,044,592 (GRCm39)	V1218A	probably benign	Het
Pold1	A	G	7: 44,191,630 (GRCm39)	S119P	probably benign	Het
Pole	T	A	5: 110,441,156 (GRCm39)	D203E	probably benign	Het
Rapgefl1	T	A	11: 98,737,947 (GRCm39)	L387Q	probably damaging	Het
Rbm33	T	C	5: 28,557,504 (GRCm39)	I199T	probably benign	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Rufy1	C	A	11: 50,289,207 (GRCm39)	R545L	probably benign	Het
Ryr3	T	A	2: 112,690,699 (GRCm39)	D1117V	probably damaging	Het
Sap130	T	C	18: 31,815,141 (GRCm39)	V621A	possibly damaging	Het
Sparcl1	T	A	5: 104,234,940 (GRCm39)	Y525F	probably damaging	Het
Spon2	A	G	5: 33,373,771 (GRCm39)	V180A	probably benign	Het
Trav10n	G	A	14: 53,359,947 (GRCm39)	V75M	probably benign	Het
Ttc34	T	C	4: 154,923,543 (GRCm39)	L84P	probably damaging	Het
Vmn1r23	C	T	6: 57,903,130 (GRCm39)	R216K	probably benign	Het
Vmn2r61	A	G	7: 41,949,364 (GRCm39)	T595A	probably benign	Het
Vmn2r66	T	A	7: 84,661,216 (GRCm39)	I5F	possibly damaging	Het
Zfp879	C	T	11: 50,723,839 (GRCm39)	G406R	probably damaging	Het
Zic2	A	T	14: 122,713,869 (GRCm39)	D261V	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
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

Predicted Primers

PCR Primer
(F):5'- AACTGCCTGCGATCCTTTGAG -3'
(R):5'- CCACATCCAGACCAGGATTG -3'

Sequencing Primer
(F):5'- ATCCTTTGAGGCTCGACAAG -3'
(R):5'- CCAGGATTGGTGGAGAGGTCC -3'

Posted On

2018-11-06