Mutagenetix > Incidental Mutation

Incidental Mutation 'R0114:Lrit2'

261776

Institutional Source

Beutler Lab

Gene Symbol

Lrit2

Ensembl Gene

ENSMUSG00000043418

Gene Name

leucine-rich repeat, immunoglobulin-like and transmembrane domains 2

Synonyms

A930010E21Rik, Lrrc22

MMRRC Submission

038400-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R0114 (G1)

Quality Score

211

Status

Not validated

Chromosome

Chromosomal Location

37067929-37073743 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 37068045 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000056642 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057176] [ENSMUST00000057176] [ENSMUST00000120052]

AlphaFold

Q6PFC5

Predicted Effect

probably null
Transcript: ENSMUST00000057176

SMART Domains

Protein: ENSMUSP00000056642
Gene: ENSMUSG00000043418

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
LRRNT	23	59	7.74e-2	SMART
LRR	78	101	9.96e-1	SMART
LRR_TYP	102	125	8.94e-3	SMART
LRR	126	149	2.03e1	SMART
LRR_TYP	150	173	7.67e-2	SMART
LRRCT	200	251	7.12e-7	SMART
IGc2	265	334	2.05e-9	SMART
FN3	362	443	5.94e0	SMART
transmembrane domain	463	485	N/A	INTRINSIC
low complexity region	538	546	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000057176

SMART Domains

Protein: ENSMUSP00000056642
Gene: ENSMUSG00000043418

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
LRRNT	23	59	7.74e-2	SMART
LRR	78	101	9.96e-1	SMART
LRR_TYP	102	125	8.94e-3	SMART
LRR	126	149	2.03e1	SMART
LRR_TYP	150	173	7.67e-2	SMART
LRRCT	200	251	7.12e-7	SMART
IGc2	265	334	2.05e-9	SMART
FN3	362	443	5.94e0	SMART
transmembrane domain	463	485	N/A	INTRINSIC
low complexity region	538	546	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000120052

SMART Domains

Protein: ENSMUSP00000113964
Gene: ENSMUSG00000041044

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
LRRNT	22	63	1.97e-3	SMART
LRR	82	105	1.03e1	SMART
LRR	106	129	3e1	SMART
LRR	130	152	1.12e1	SMART
LRR_TYP	154	177	4.47e-3	SMART
LRRCT	201	253	2.04e-7	SMART
IGc2	267	336	6.55e-8	SMART
FN3	429	506	2.22e0	SMART
transmembrane domain	531	553	N/A	INTRINSIC
low complexity region	581	595	N/A	INTRINSIC
low complexity region	597	608	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224104

Coding Region Coverage

1x: 98.6%
3x: 97.4%
10x: 93.2%
20x: 79.2%

Validation Efficiency

100% (99/99)

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	T	C	10: 28,985,982 (GRCm38)		probably benign	Het
4933427D14Rik	T	C	11: 72,195,799 (GRCm38)	Y262C	probably damaging	Het
Adamts1	C	A	16: 85,799,614 (GRCm38)	V379L	probably benign	Het
Akt3	T	C	1: 177,067,251 (GRCm38)	D260G	probably damaging	Het
Alms1	T	C	6: 85,619,803 (GRCm38)	L537P	probably benign	Het
Anln	A	T	9: 22,353,346 (GRCm38)	I876N	probably damaging	Het
Ano9	A	T	7: 141,103,239 (GRCm38)		probably benign	Het
Arhgef10l	T	C	4: 140,583,883 (GRCm38)	E218G	probably benign	Het
Arnt2	G	A	7: 84,347,530 (GRCm38)	R63C	probably damaging	Het
Atp9a	G	T	2: 168,710,856 (GRCm38)	Y63*	probably null	Het
Bmpr2	G	T	1: 59,815,340 (GRCm38)	C116F	probably damaging	Het
Cand1	T	C	10: 119,216,522 (GRCm38)	D233G	probably benign	Het
Cftr	A	T	6: 18,282,448 (GRCm38)	H1049L	probably damaging	Het
Ckap5	A	T	2: 91,620,112 (GRCm38)	D1975V	possibly damaging	Het
Cyp26c1	T	C	19: 37,686,633 (GRCm38)	V134A	probably benign	Het
Dnai1	T	C	4: 41,605,686 (GRCm38)		probably benign	Het
Dpp10	T	C	1: 123,486,092 (GRCm38)	I163V	probably benign	Het
Fam151a	A	T	4: 106,734,004 (GRCm38)	I15F	possibly damaging	Het
Fanca	A	T	8: 123,288,491 (GRCm38)		probably null	Het
Fes	A	G	7: 80,378,035 (GRCm38)	V787A	probably damaging	Het
Fnip1	C	T	11: 54,487,801 (GRCm38)		probably benign	Het
Gabpb1	A	G	2: 126,653,574 (GRCm38)	I86T	probably damaging	Het
Gmds	A	T	13: 32,227,281 (GRCm38)	S57T	probably benign	Het
Gnpat	T	G	8: 124,883,357 (GRCm38)	D426E	probably benign	Het
Gnptab	C	A	10: 88,433,400 (GRCm38)	P655Q	possibly damaging	Het
Gpi-ps	A	G	8: 5,640,359 (GRCm38)		noncoding transcript	Het
Herc1	T	A	9: 66,461,846 (GRCm38)	F2941I	probably damaging	Het
Herc2	T	C	7: 56,153,774 (GRCm38)		probably benign	Het
Ino80	G	A	2: 119,382,960 (GRCm38)	R1249C	probably damaging	Het
Itga11	T	G	9: 62,735,293 (GRCm38)	V166G	probably damaging	Het
Itga11	T	C	9: 62,760,302 (GRCm38)	V639A	possibly damaging	Het
Itpr2	A	G	6: 146,312,879 (GRCm38)	F1490S	probably damaging	Het
Lama2	C	A	10: 26,993,068 (GRCm38)	E802*	probably null	Het
Lgi3	C	T	14: 70,531,029 (GRCm38)		probably benign	Het
Limch1	C	T	5: 67,036,084 (GRCm38)		probably benign	Het
Lipc	T	C	9: 70,803,781 (GRCm38)	N363S	probably damaging	Het
Mfsd13a	C	T	19: 46,366,504 (GRCm38)	T40I	probably benign	Het
Mug2	A	G	6: 122,040,648 (GRCm38)	Y448C	probably damaging	Het
Mybpc3	A	G	2: 91,124,494 (GRCm38)	E450G	probably damaging	Het
Myo5b	A	T	18: 74,742,171 (GRCm38)	T1549S	probably benign	Het
Naa15	T	C	3: 51,448,438 (GRCm38)		probably null	Het
Nckap1l	T	A	15: 103,455,028 (GRCm38)	C54S	probably benign	Het
Nlrp9b	A	G	7: 20,024,056 (GRCm38)	D406G	probably benign	Het
Nprl3	T	A	11: 32,239,784 (GRCm38)		probably benign	Het
Nvl	A	G	1: 181,120,391 (GRCm38)	V429A	probably benign	Het
Olfr548-ps1	A	T	7: 102,542,731 (GRCm38)	Q265L	probably benign	Het
Opa1	A	T	16: 29,629,635 (GRCm38)	N912Y	probably benign	Het
Or14j3	A	T	17: 37,589,415 (GRCm38)	*313K	probably null	Het
Or1x2	G	A	11: 51,027,604 (GRCm38)	V201I	probably benign	Het
Or6c211	T	A	10: 129,669,598 (GRCm38)	Y307F	probably benign	Het
Pcnx1	T	C	12: 81,996,095 (GRCm38)	V2317A	possibly damaging	Het
Phf3	A	T	1: 30,805,443 (GRCm38)	N1478K	possibly damaging	Het
Phykpl	G	A	11: 51,586,653 (GRCm38)	D91N	probably benign	Het
Polr2b	T	A	5: 77,343,263 (GRCm38)	C984S	probably damaging	Het
Ppfibp1	A	G	6: 146,998,233 (GRCm38)	R141G	probably benign	Het
Ppm1d	G	A	11: 85,326,905 (GRCm38)	G20R	probably damaging	Het
Ppp1r16a	C	T	15: 76,690,799 (GRCm38)		probably benign	Het
Ppp2r5b	C	A	19: 6,228,431 (GRCm38)	V483F	probably benign	Het
Ppp4r4	T	A	12: 103,576,374 (GRCm38)	C132S	probably benign	Het
Prg2	A	G	2: 84,983,456 (GRCm38)		probably benign	Het
Prpf4b	G	A	13: 34,890,488 (GRCm38)		probably benign	Het
Rad54l2	T	C	9: 106,713,455 (GRCm38)	T491A	probably damaging	Het
Rnf213	G	T	11: 119,414,587 (GRCm38)	W548L	probably damaging	Het
Rusc2	G	T	4: 43,422,055 (GRCm38)	C825F	probably damaging	Het
Sema4b	A	G	7: 80,219,078 (GRCm38)		probably benign	Het
Sema6a	A	G	18: 47,290,177 (GRCm38)	V254A	probably damaging	Het
Slc13a3	A	G	2: 165,424,581 (GRCm38)	F346L	probably damaging	Het
Slc25a17	T	C	15: 81,337,959 (GRCm38)	D104G	probably damaging	Het
Specc1	A	T	11: 62,146,313 (GRCm38)	N707Y	possibly damaging	Het
Tex48	T	A	4: 63,608,459 (GRCm38)	E76V	probably damaging	Het
Tfr2	T	C	5: 137,577,465 (GRCm38)	V281A	probably benign	Het
Tgfb1i1	A	C	7: 128,249,494 (GRCm38)	Q238H	probably damaging	Het
Thoc6	G	A	17: 23,670,239 (GRCm38)	T122I	probably benign	Het
Tmtc1	G	A	6: 148,412,830 (GRCm38)		probably benign	Het
Tnfrsf8	T	C	4: 145,288,047 (GRCm38)	D264G	possibly damaging	Het
Trim43a	T	A	9: 88,584,160 (GRCm38)	I178N	probably damaging	Het
Ttn	G	C	2: 76,707,093 (GRCm38)	I26503M	possibly damaging	Het
Usp28	C	A	9: 49,039,023 (GRCm38)	D589E	probably benign	Het
Utp23	T	C	15: 51,882,511 (GRCm38)	S242P	probably damaging	Het
Vwa3a	A	G	7: 120,775,380 (GRCm38)	Y305C	probably benign	Het
Vwa5b1	C	A	4: 138,608,858 (GRCm38)	E142*	probably null	Het
Xrn2	A	T	2: 147,029,779 (GRCm38)	T374S	probably damaging	Het
Zfp735	A	T	11: 73,710,662 (GRCm38)	Q144L	probably benign	Het

Other mutations in Lrit2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00327:Lrit2	APN	14	37,071,963 (GRCm38)	missense	probably benign	0.31
IGL01475:Lrit2	APN	14	37,069,094 (GRCm38)	missense	probably damaging	1.00
IGL02080:Lrit2	APN	14	37,069,074 (GRCm38)	missense	probably damaging	0.99
IGL02141:Lrit2	APN	14	37,068,074 (GRCm38)	unclassified	probably benign
IGL02479:Lrit2	APN	14	37,072,278 (GRCm38)	missense	probably damaging	0.99
IGL02715:Lrit2	APN	14	37,072,548 (GRCm38)	missense	probably benign	0.00
R1344:Lrit2	UTSW	14	37,068,556 (GRCm38)	missense	probably benign	0.32
R1529:Lrit2	UTSW	14	37,068,827 (GRCm38)	missense	probably benign	0.12
R1641:Lrit2	UTSW	14	37,069,148 (GRCm38)	missense	probably benign	0.34
R2105:Lrit2	UTSW	14	37,071,956 (GRCm38)	missense	probably damaging	1.00
R4365:Lrit2	UTSW	14	37,072,119 (GRCm38)	missense	probably damaging	1.00
R4645:Lrit2	UTSW	14	37,072,475 (GRCm38)	missense	probably benign
R5226:Lrit2	UTSW	14	37,072,353 (GRCm38)	missense	probably damaging	1.00
R5377:Lrit2	UTSW	14	37,069,183 (GRCm38)	missense	possibly damaging	0.59
R5387:Lrit2	UTSW	14	37,072,259 (GRCm38)	missense	probably damaging	1.00
R5840:Lrit2	UTSW	14	37,069,005 (GRCm38)	missense	possibly damaging	0.64
R5881:Lrit2	UTSW	14	37,072,235 (GRCm38)	missense	probably benign	0.02
R6499:Lrit2	UTSW	14	37,068,810 (GRCm38)	missense	probably damaging	0.98
R6863:Lrit2	UTSW	14	37,071,944 (GRCm38)	missense	probably damaging	0.99
R7307:Lrit2	UTSW	14	37,072,199 (GRCm38)	missense	probably benign	0.00
R7316:Lrit2	UTSW	14	37,068,858 (GRCm38)	missense	probably damaging	1.00
R7491:Lrit2	UTSW	14	37,068,910 (GRCm38)	missense	possibly damaging	0.83
R7525:Lrit2	UTSW	14	37,072,493 (GRCm38)	missense	possibly damaging	0.76
R7640:Lrit2	UTSW	14	37,072,124 (GRCm38)	missense	probably damaging	1.00
R8228:Lrit2	UTSW	14	37,069,191 (GRCm38)	missense	probably damaging	1.00
R8397:Lrit2	UTSW	14	37,069,077 (GRCm38)	missense	probably damaging	0.98
R8815:Lrit2	UTSW	14	37,072,530 (GRCm38)	missense	probably benign	0.00
R9099:Lrit2	UTSW	14	37,068,855 (GRCm38)	missense	possibly damaging	0.90
R9152:Lrit2	UTSW	14	37,072,230 (GRCm38)	missense	probably damaging	1.00
R9193:Lrit2	UTSW	14	37,072,593 (GRCm38)	missense	possibly damaging	0.72
R9309:Lrit2	UTSW	14	37,071,891 (GRCm38)	missense	probably benign	0.03
R9517:Lrit2	UTSW	14	37,072,315 (GRCm38)	nonsense	probably null
R9670:Lrit2	UTSW	14	37,068,158 (GRCm38)	nonsense	probably null
R9764:Lrit2	UTSW	14	37,068,979 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

Posted On

2015-02-04