Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02500:Lrrc30'

296002

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lrrc30

Ensembl Gene

ENSMUSG00000073375

Gene Name

leucine rich repeat containing 30

Synonyms

LOC240131

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02500

Quality Score

Status

Chromosome

Chromosomal Location

67630965-67632723 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 67631862 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 241 (N241I)

Ref Sequence

ENSEMBL: ENSMUSP00000094893 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097290]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000097290
AA Change: N241I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000094893
Gene: ENSMUSG00000073375
AA Change: N241I

Domain	Start	End	E-Value	Type
LRR_TYP	69	92	1.67e-2	SMART
LRR	115	138	1.73e0	SMART
LRR	139	160	1.91e1	SMART
LRR_TYP	161	184	2.53e-2	SMART
Blast:LRR	207	229	1e-5	BLAST
LRR	230	253	3.29e-1	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	A	T	14: 118,618,926	I409N	possibly damaging	Het
Aoc3	T	A	11: 101,337,389	L674*	probably null	Het
Arhgef10	G	A	8: 14,961,238	E265K	probably damaging	Het
Cd53	A	G	3: 106,768,826	I75T	probably damaging	Het
Col26a1	A	T	5: 136,754,339	L235*	probably null	Het
Crem	G	T	18: 3,273,477	Q60K	probably damaging	Het
Cyp2j8	T	C	4: 96,470,650	D344G	probably damaging	Het
Cyr61	T	C	3: 145,648,700	K152R	probably damaging	Het
Dchs1	T	C	7: 105,755,806	T2510A	probably benign	Het
Dnajc4	T	C	19: 6,988,088	Q215R	possibly damaging	Het
Espl1	A	G	15: 102,315,800	H1262R	probably benign	Het
Exoc2	G	T	13: 30,911,196	T239K	probably damaging	Het
Fzd6	A	T	15: 39,031,386	S316C	probably damaging	Het
Htra1	A	G	7: 130,984,974	K429R	probably benign	Het
Il1rapl2	C	T	X: 138,846,503	T647I	possibly damaging	Het
Kcnn3	T	A	3: 89,661,112		probably benign	Het
Kiz	G	A	2: 146,863,813	V98I	probably benign	Het
Klk1b24	A	T	7: 44,188,324		probably benign	Het
Map2k4	A	G	11: 65,696,310	V288A	probably damaging	Het
Mefv	T	C	16: 3,713,577	H459R	probably damaging	Het
Mettl21a	G	T	1: 64,608,054	Q115K	probably benign	Het
Msra	A	G	14: 64,285,188		probably benign	Het
Myh8	G	A	11: 67,305,710	R1752H	probably benign	Het
Nrp1	T	C	8: 128,425,799	F163S	possibly damaging	Het
Ntng1	T	A	3: 110,135,330	Y60F	probably damaging	Het
Pax6	G	T	2: 105,692,770	R317L	probably benign	Het
Pcdh17	A	G	14: 84,533,469	E1129G	probably benign	Het
Phlpp2	C	T	8: 109,913,618	H472Y	probably benign	Het
Pip5k1c	C	A	10: 81,317,321		probably null	Het
Prkce	A	G	17: 86,168,914	N108D	probably benign	Het
Prkdc	T	G	16: 15,714,282		probably null	Het
Ptprm	T	C	17: 66,920,048	Y702C	probably damaging	Het
Rbbp8nl	T	C	2: 180,279,329	T421A	possibly damaging	Het
Retnlg	A	T	16: 48,872,960	L33F	probably benign	Het
Slc16a7	T	A	10: 125,230,933	Y279F	probably damaging	Het
Slc8a1	T	C	17: 81,388,713	Y964C	probably damaging	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Sspo	C	A	6: 48,478,379	C3047*	probably null	Het
Tmprss11b	C	T	5: 86,667,323		probably null	Het
Txnrd1	T	G	10: 82,879,217	W98G	probably damaging	Het
Ulk1	A	T	5: 110,809,134	I66N	probably damaging	Het
Ush2a	A	G	1: 188,822,696	Y3557C	probably damaging	Het
Vmn2r57	T	A	7: 41,428,226	H172L	probably benign	Het
Zfp518a	G	A	19: 40,914,617	G997R	probably damaging	Het
Zfp592	T	A	7: 81,041,726	C1218S	probably benign	Het

Other mutations in Lrrc30

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00499:Lrrc30	APN	17	67632039	missense	probably damaging	1.00
IGL00957:Lrrc30	APN	17	67632504	missense	probably benign	0.00
R1666:Lrrc30	UTSW	17	67632205	missense	probably benign	0.39
R1769:Lrrc30	UTSW	17	67631681	makesense	probably null
R2079:Lrrc30	UTSW	17	67631880	missense	possibly damaging	0.80
R3405:Lrrc30	UTSW	17	67632180	missense	probably damaging	1.00
R3406:Lrrc30	UTSW	17	67632180	missense	probably damaging	1.00
R4301:Lrrc30	UTSW	17	67632568	missense	probably damaging	1.00
R6399:Lrrc30	UTSW	17	67632686	start gained	probably benign
R6469:Lrrc30	UTSW	17	67631865	missense	probably benign
R7079:Lrrc30	UTSW	17	67632021	missense	possibly damaging	0.96
R7454:Lrrc30	UTSW	17	67632243	missense	probably damaging	0.97
R7611:Lrrc30	UTSW	17	67632429	missense	probably damaging	0.97
R7642:Lrrc30	UTSW	17	67632477	missense	probably damaging	1.00
R8512:Lrrc30	UTSW	17	67631952	missense	probably damaging	0.99
R9059:Lrrc30	UTSW	17	67631803	missense	probably damaging	1.00
R9198:Lrrc30	UTSW	17	67631859	missense	probably benign	0.34
R9638:Lrrc30	UTSW	17	67632231	missense	probably damaging	0.99
X0027:Lrrc30	UTSW	17	67632459	missense	probably damaging	1.00
Z1088:Lrrc30	UTSW	17	67631695	missense	possibly damaging	0.93
Z1176:Lrrc30	UTSW	17	67632436	missense	probably benign	0.00

Posted On

2015-04-16