Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02556:Lrrc1'

298520

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lrrc1

Ensembl Gene

ENSMUSG00000032352

Gene Name

leucine rich repeat containing 1

Synonyms

A430093J20Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.245) question?

Stock #

IGL02556

Quality Score

Status

Chromosome

Chromosomal Location

77338105-77452152 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 77342404 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 357 (I357L)

Ref Sequence

ENSEMBL: ENSMUSP00000109048 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113421] [ENSMUST00000183873]

AlphaFold

Q80VQ1

Predicted Effect

probably benign
Transcript: ENSMUST00000113421
AA Change: I357L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000109048
Gene: ENSMUSG00000032352
AA Change: I357L

Domain	Start	End	E-Value	Type
LRR	13	35	6.57e-1	SMART
LRR	36	59	1.12e2	SMART
LRR	82	104	2.15e2	SMART
LRR	105	127	3.09e1	SMART
LRR	128	150	2.14e0	SMART
LRR	151	173	3.02e0	SMART
LRR	174	196	3.47e0	SMART
LRR	197	219	6.58e0	SMART
LRR_TYP	220	243	4.72e-2	SMART
LRR	266	289	8.97e0	SMART
LRR	313	335	1.49e2	SMART
coiled coil region	440	461	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000183467
AA Change: I39L

Predicted Effect

probably benign
Transcript: ENSMUST00000183873
AA Change: I402L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000139226
Gene: ENSMUSG00000032352
AA Change: I402L

Domain	Start	End	E-Value	Type
LRR	36	57	3.18e1	SMART
LRR	58	80	6.57e-1	SMART
LRR	81	104	1.12e2	SMART
LRR	127	149	2.15e2	SMART
LRR	150	172	3.09e1	SMART
LRR	173	195	2.14e0	SMART
LRR	196	218	3.02e0	SMART
LRR	219	241	3.47e0	SMART
LRR	242	264	6.58e0	SMART
LRR_TYP	265	288	4.72e-2	SMART
LRR	311	334	8.97e0	SMART
LRR	358	380	1.49e2	SMART
coiled coil region	485	506	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184099

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184531

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	G	10: 100,446,579 (GRCm39)		probably null	Het
Ace	A	G	11: 105,863,353 (GRCm39)	D376G	probably damaging	Het
Adgrb1	C	T	15: 74,458,654 (GRCm39)	T1252I	probably damaging	Het
Bhmt	T	C	13: 93,774,008 (GRCm39)		probably benign	Het
Ckap5	T	C	2: 91,425,186 (GRCm39)		probably benign	Het
Clcn4	T	C	7: 7,299,065 (GRCm39)	T37A	probably benign	Het
Cnmd	C	T	14: 79,899,400 (GRCm39)	V18I	probably benign	Het
Cryl1	C	T	14: 57,513,478 (GRCm39)	V248M	probably benign	Het
D830039M14Rik	C	T	10: 61,311,262 (GRCm39)		probably benign	Het
Dido1	T	C	2: 180,331,128 (GRCm39)	T107A	possibly damaging	Het
Efna5	C	A	17: 62,958,023 (GRCm39)	V78F	probably damaging	Het
Eml1	A	G	12: 108,503,625 (GRCm39)	I741V	probably benign	Het
Gfap	A	G	11: 102,787,780 (GRCm39)	L55P	probably damaging	Het
Itga6	A	G	2: 71,669,027 (GRCm39)	I606V	probably benign	Het
Kif2c	G	T	4: 117,019,802 (GRCm39)	D579E	probably damaging	Het
Lef1	T	C	3: 130,988,442 (GRCm39)		probably null	Het
Lrrc37	A	G	11: 103,504,109 (GRCm39)	S2620P	probably benign	Het
Map3k20	T	A	2: 72,202,239 (GRCm39)	F157I	probably damaging	Het
Naga	A	T	15: 82,214,337 (GRCm39)	N391K	probably damaging	Het
Ncaph	T	C	2: 126,968,025 (GRCm39)		probably benign	Het
Or11g2	C	A	14: 50,856,185 (GRCm39)	Q169K	probably benign	Het
Or12d13	T	A	17: 37,647,887 (GRCm39)	M79L	probably benign	Het
Or5ae1	T	G	7: 84,565,567 (GRCm39)	Y193*	probably null	Het
Or6b9	T	A	7: 106,555,598 (GRCm39)	I182F	possibly damaging	Het
Or6c2b	T	G	10: 128,947,904 (GRCm39)	Y130S	probably damaging	Het
Or8g55	T	A	9: 39,784,906 (GRCm39)	C112S	possibly damaging	Het
Pappa	C	A	4: 65,074,863 (GRCm39)	D472E	possibly damaging	Het
Pdxk	G	A	10: 78,287,319 (GRCm39)	L81F	probably damaging	Het
Pkhd1	G	T	1: 20,380,934 (GRCm39)	T2635K	probably damaging	Het
Psmb6	A	T	11: 70,417,248 (GRCm39)	H99L	possibly damaging	Het
Ptpn6	C	T	6: 124,705,623 (GRCm39)	G135E	probably benign	Het
Ptprz1	T	A	6: 22,972,844 (GRCm39)	D251E	probably benign	Het
Ralgapa1	A	G	12: 55,689,234 (GRCm39)	V1955A	possibly damaging	Het
Rsph4a	T	C	10: 33,781,148 (GRCm39)		probably benign	Het
Sh2d4b	T	C	14: 40,542,700 (GRCm39)	T359A	probably benign	Het
Sh3bp5l	A	G	11: 58,237,087 (GRCm39)	D348G	probably damaging	Het
Skint5	A	T	4: 113,797,932 (GRCm39)	M217K	probably damaging	Het
Slc30a6	T	C	17: 74,711,054 (GRCm39)	L49P	probably damaging	Het
Slc8a1	C	T	17: 81,956,173 (GRCm39)	M288I	probably benign	Het
Tmem127	C	A	2: 127,097,922 (GRCm39)		probably null	Het
Tnfrsf17	T	C	16: 11,131,811 (GRCm39)		probably benign	Het
Trak1	A	T	9: 121,277,967 (GRCm39)	N341I	probably damaging	Het
Ubr5	A	G	15: 38,002,692 (GRCm39)	I1453T	probably benign	Het
Wdr62	T	C	7: 29,944,709 (GRCm39)		probably null	Het
Xrn2	T	C	2: 146,880,216 (GRCm39)		probably benign	Het
Zscan10	C	T	17: 23,827,119 (GRCm39)	A144V	possibly damaging	Het

Other mutations in Lrrc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02975:Lrrc1	APN	9	77,359,929 (GRCm39)	missense	probably damaging	1.00
IGL03063:Lrrc1	APN	9	77,406,551 (GRCm39)	missense	probably damaging	0.99
G1Funyon:Lrrc1	UTSW	9	77,451,770 (GRCm39)	missense	probably damaging	1.00
R0610:Lrrc1	UTSW	9	77,379,488 (GRCm39)	missense	possibly damaging	0.95
R1462:Lrrc1	UTSW	9	77,349,547 (GRCm39)	missense	probably benign	0.01
R1462:Lrrc1	UTSW	9	77,349,547 (GRCm39)	missense	probably benign	0.01
R1615:Lrrc1	UTSW	9	77,342,400 (GRCm39)	missense	possibly damaging	0.94
R2932:Lrrc1	UTSW	9	77,364,721 (GRCm39)	missense	probably benign	0.01
R5087:Lrrc1	UTSW	9	77,364,740 (GRCm39)	missense	probably benign
R5907:Lrrc1	UTSW	9	77,341,379 (GRCm39)	missense	probably damaging	0.99
R6443:Lrrc1	UTSW	9	77,341,314 (GRCm39)	missense	probably damaging	1.00
R6502:Lrrc1	UTSW	9	77,349,473 (GRCm39)	missense	probably damaging	1.00
R7073:Lrrc1	UTSW	9	77,375,847 (GRCm39)	missense	probably benign	0.04
R7162:Lrrc1	UTSW	9	77,339,472 (GRCm39)	missense	probably benign	0.13
R7177:Lrrc1	UTSW	9	77,379,504 (GRCm39)	nonsense	probably null
R7290:Lrrc1	UTSW	9	77,365,121 (GRCm39)	missense	probably benign	0.01
R7885:Lrrc1	UTSW	9	77,349,471 (GRCm39)	missense	probably damaging	0.97
R8301:Lrrc1	UTSW	9	77,451,770 (GRCm39)	missense	probably damaging	1.00
R8375:Lrrc1	UTSW	9	77,365,129 (GRCm39)	missense	probably damaging	1.00
R8945:Lrrc1	UTSW	9	77,342,373 (GRCm39)	missense	probably damaging	1.00
R9188:Lrrc1	UTSW	9	77,362,487 (GRCm39)	missense	probably benign	0.42
R9225:Lrrc1	UTSW	9	77,359,955 (GRCm39)	missense	probably benign	0.00
R9336:Lrrc1	UTSW	9	77,349,480 (GRCm39)	missense	probably damaging	1.00
R9574:Lrrc1	UTSW	9	77,358,708 (GRCm39)	missense	probably damaging	0.97
RF020:Lrrc1	UTSW	9	77,359,913 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16