Mutagenetix > Incidental Mutation

Incidental Mutation 'R5226:Lrit2'

402632

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

042799-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R5226 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36789886-36795700 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36794310 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 458 (E458G)

Ref Sequence

ENSEMBL: ENSMUSP00000056642 (fasta)

Gene Model

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

AlphaFold

Q6PFC5

Predicted Effect

probably damaging
Transcript: ENSMUST00000057176
AA Change: E458G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000056642
Gene: ENSMUSG00000043418
AA Change: E458G

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

noncoding transcript
Transcript: ENSMUST00000224104

Meta Mutation Damage Score

0.2377

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,056,706 (GRCm39)	K98E	possibly damaging	Het
4933414I15Rik	A	T	11: 50,833,416 (GRCm39)	M62K	unknown	Het
Akr1d1	T	A	6: 37,512,949 (GRCm39)		probably null	Het
Ankrd63	T	C	2: 118,533,736 (GRCm39)		probably benign	Het
Atad5	T	C	11: 79,985,888 (GRCm39)	V325A	probably damaging	Het
Atp13a5	G	T	16: 29,067,031 (GRCm39)	N1025K	probably damaging	Het
Atrnl1	G	T	19: 57,638,767 (GRCm39)	V302L	probably benign	Het
Bend7	C	A	2: 4,757,789 (GRCm39)	S277*	probably null	Het
Btnl7-ps	A	T	17: 34,752,261 (GRCm39)		noncoding transcript	Het
Cbx4	T	C	11: 118,972,754 (GRCm39)	Y207C	probably damaging	Het
Ctla2b	C	T	13: 61,044,146 (GRCm39)	W63*	probably null	Het
Cux1	T	C	5: 136,399,027 (GRCm39)	T170A	probably benign	Het
Cyp3a57	T	C	5: 145,302,507 (GRCm39)	V101A	probably benign	Het
Dao	A	T	5: 114,159,094 (GRCm39)	T267S	probably benign	Het
Dsp	A	G	13: 38,370,746 (GRCm39)	D883G	probably damaging	Het
Dynlt4	A	G	4: 116,985,290 (GRCm39)	T38A	possibly damaging	Het
Eif4g3	C	A	4: 137,824,105 (GRCm39)	P36T	possibly damaging	Het
Elf3	G	A	1: 135,184,977 (GRCm39)	L70F	probably benign	Het
Epb41l4a	C	T	18: 33,943,366 (GRCm39)	D510N	probably damaging	Het
Gcn1	T	C	5: 115,726,126 (GRCm39)	S594P	probably benign	Het
Gm10722	T	C	9: 3,000,937 (GRCm39)	C6R	probably benign	Het
Gpr132	T	C	12: 112,815,768 (GRCm39)	T353A	probably benign	Het
Kntc1	A	G	5: 123,932,235 (GRCm39)	D1343G	probably benign	Het
L3mbtl4	T	A	17: 69,071,717 (GRCm39)		probably null	Het
Man1c1	A	T	4: 134,305,680 (GRCm39)	I348N	probably damaging	Het
Map4k2	A	G	19: 6,396,534 (GRCm39)		probably benign	Het
Nt5c2	A	C	19: 46,887,068 (GRCm39)	Y203D	probably damaging	Het
Oxgr1	A	G	14: 120,259,665 (GRCm39)	S181P	probably damaging	Het
Parn	A	G	16: 13,443,416 (GRCm39)	C400R	probably benign	Het
Pcdhgb7	T	C	18: 37,885,577 (GRCm39)	V249A	probably benign	Het
Pdzrn3	C	T	6: 101,130,272 (GRCm39)	D515N	probably damaging	Het
Plcg2	A	T	8: 118,304,613 (GRCm39)	I273F	possibly damaging	Het
Plin1	A	G	7: 79,372,447 (GRCm39)	V64A	probably damaging	Het
Ppfia4	C	A	1: 134,232,024 (GRCm39)		probably null	Het
Prkg2	A	C	5: 99,124,321 (GRCm39)	D376E	possibly damaging	Het
Ptgir	T	A	7: 16,642,645 (GRCm39)	I82N	probably damaging	Het
Pum2	C	T	12: 8,763,458 (GRCm39)	P205L	possibly damaging	Het
Rab26	T	A	17: 24,753,107 (GRCm39)		probably benign	Het
Recql4	T	C	15: 76,594,329 (GRCm39)	E63G	probably benign	Het
Rora	T	A	9: 69,271,423 (GRCm39)		probably benign	Het
Rp1	A	C	1: 4,418,256 (GRCm39)	M952R	probably benign	Het
Rpap3	T	A	15: 97,601,104 (GRCm39)	R44S	possibly damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Slc12a2	C	A	18: 58,012,092 (GRCm39)	P72T	probably damaging	Het
Slc1a3	C	T	15: 8,671,709 (GRCm39)	V416M	probably damaging	Het
Slfn4	A	T	11: 83,078,375 (GRCm39)	M388L	possibly damaging	Het
Snrnp48	G	A	13: 38,389,093 (GRCm39)	A49T	probably benign	Het
Tlx2	C	T	6: 83,045,911 (GRCm39)	G228D	possibly damaging	Het
Tmem132a	A	G	19: 10,844,508 (GRCm39)	V30A	possibly damaging	Het
Tnfrsf23	C	A	7: 143,239,522 (GRCm39)	L24F	possibly damaging	Het
Ubr2	A	T	17: 47,294,196 (GRCm39)	N312K	probably benign	Het
Vmn1r115	C	T	7: 20,578,169 (GRCm39)	V248I	probably damaging	Het
Vmn2r80	A	G	10: 79,029,874 (GRCm39)	T567A	probably benign	Het
Vps13c	A	G	9: 67,852,835 (GRCm39)	T2372A	probably benign	Het
Wnt10b	G	T	15: 98,674,495 (GRCm39)	H81N	probably damaging	Het
Zfp948	A	G	17: 21,808,505 (GRCm39)	T566A	probably benign	Het

Other mutations in Lrit2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00327:Lrit2	APN	14	36,793,920 (GRCm39)	missense	probably benign	0.31
IGL01475:Lrit2	APN	14	36,791,051 (GRCm39)	missense	probably damaging	1.00
IGL02080:Lrit2	APN	14	36,791,031 (GRCm39)	missense	probably damaging	0.99
IGL02141:Lrit2	APN	14	36,790,031 (GRCm39)	unclassified	probably benign
IGL02479:Lrit2	APN	14	36,794,235 (GRCm39)	missense	probably damaging	0.99
IGL02715:Lrit2	APN	14	36,794,505 (GRCm39)	missense	probably benign	0.00
R0114:Lrit2	UTSW	14	36,790,002 (GRCm39)	splice site	probably null
R1344:Lrit2	UTSW	14	36,790,513 (GRCm39)	missense	probably benign	0.32
R1529:Lrit2	UTSW	14	36,790,784 (GRCm39)	missense	probably benign	0.12
R1641:Lrit2	UTSW	14	36,791,105 (GRCm39)	missense	probably benign	0.34
R2105:Lrit2	UTSW	14	36,793,913 (GRCm39)	missense	probably damaging	1.00
R4365:Lrit2	UTSW	14	36,794,076 (GRCm39)	missense	probably damaging	1.00
R4645:Lrit2	UTSW	14	36,794,432 (GRCm39)	missense	probably benign
R5377:Lrit2	UTSW	14	36,791,140 (GRCm39)	missense	possibly damaging	0.59
R5387:Lrit2	UTSW	14	36,794,216 (GRCm39)	missense	probably damaging	1.00
R5840:Lrit2	UTSW	14	36,790,962 (GRCm39)	missense	possibly damaging	0.64
R5881:Lrit2	UTSW	14	36,794,192 (GRCm39)	missense	probably benign	0.02
R6499:Lrit2	UTSW	14	36,790,767 (GRCm39)	missense	probably damaging	0.98
R6863:Lrit2	UTSW	14	36,793,901 (GRCm39)	missense	probably damaging	0.99
R7307:Lrit2	UTSW	14	36,794,156 (GRCm39)	missense	probably benign	0.00
R7316:Lrit2	UTSW	14	36,790,815 (GRCm39)	missense	probably damaging	1.00
R7491:Lrit2	UTSW	14	36,790,867 (GRCm39)	missense	possibly damaging	0.83
R7525:Lrit2	UTSW	14	36,794,450 (GRCm39)	missense	possibly damaging	0.76
R7640:Lrit2	UTSW	14	36,794,081 (GRCm39)	missense	probably damaging	1.00
R8228:Lrit2	UTSW	14	36,791,148 (GRCm39)	missense	probably damaging	1.00
R8397:Lrit2	UTSW	14	36,791,034 (GRCm39)	missense	probably damaging	0.98
R8815:Lrit2	UTSW	14	36,794,487 (GRCm39)	missense	probably benign	0.00
R9099:Lrit2	UTSW	14	36,790,812 (GRCm39)	missense	possibly damaging	0.90
R9152:Lrit2	UTSW	14	36,794,187 (GRCm39)	missense	probably damaging	1.00
R9193:Lrit2	UTSW	14	36,794,550 (GRCm39)	missense	possibly damaging	0.72
R9309:Lrit2	UTSW	14	36,793,848 (GRCm39)	missense	probably benign	0.03
R9517:Lrit2	UTSW	14	36,794,272 (GRCm39)	nonsense	probably null
R9670:Lrit2	UTSW	14	36,790,115 (GRCm39)	nonsense	probably null
R9764:Lrit2	UTSW	14	36,790,936 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGTGACCAACCTTGCTGAG -3'
(R):5'- ATCCTTGCACTGTGGTACTG -3'

Sequencing Primer
(F):5'- ATTACATCTGATGAAGCTCTCAGG -3'
(R):5'- ACTGCTTGTGGGCATCTTAG -3'

Posted On

2016-07-22