Mutagenetix > Incidental Mutation

Incidental Mutation 'R5881:Lrit2'

454444

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

044085-MU

Accession Numbers

Essential gene?

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

Stock #

R5881 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36789886-36795700 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 36794192 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 419 (A419S)

Ref Sequence

ENSEMBL: ENSMUSP00000056642 (fasta)

Gene Model

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

AlphaFold

Q6PFC5

Predicted Effect

probably benign
Transcript: ENSMUST00000057176
AA Change: A419S

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000056642
Gene: ENSMUSG00000043418
AA Change: A419S

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

Coding Region Coverage

1x: 99.9%
3x: 99.3%
10x: 94.5%
20x: 78.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3	A	C	11: 95,725,213 (GRCm39)	L159W	probably damaging	Het
Abi3	A	T	11: 95,725,214 (GRCm39)	L159M	probably damaging	Het
Adam11	A	C	11: 102,664,636 (GRCm39)	I406L	probably benign	Het
Ager	G	T	17: 34,819,051 (GRCm39)	V300L	probably damaging	Het
Ank3	C	T	10: 69,822,660 (GRCm39)	S1726L	probably benign	Het
Boc	A	G	16: 44,311,014 (GRCm39)	I740T	probably damaging	Het
C8a	T	A	4: 104,711,129 (GRCm39)	D178V	probably damaging	Het
Ces3a	G	A	8: 105,777,198 (GRCm39)	V174M	probably damaging	Het
Cisd1	A	T	10: 71,172,244 (GRCm39)	W13R	probably damaging	Het
Commd8	A	T	5: 72,320,107 (GRCm39)	D111E	probably benign	Het
Ddx60	A	T	8: 62,490,104 (GRCm39)	D1691V	probably damaging	Het
Desi2	A	G	1: 178,065,479 (GRCm39)	Y15C	probably damaging	Het
Dnmt1	A	G	9: 20,864,013 (GRCm39)	V24A	probably damaging	Het
Dock10	G	A	1: 80,538,640 (GRCm39)	T968M	probably benign	Het
Dsel	A	T	1: 111,787,168 (GRCm39)	F1122L	probably damaging	Het
Eml3	T	C	19: 8,910,807 (GRCm39)	F220L	probably damaging	Het
Entpd2	A	C	2: 25,290,824 (GRCm39)	N443H	probably damaging	Het
Epgn	A	G	5: 91,176,222 (GRCm39)	N36S	probably benign	Het
Fsip2	G	T	2: 82,814,785 (GRCm39)	S3506I	possibly damaging	Het
Gprin3	T	C	6: 59,331,771 (GRCm39)	S179G	probably benign	Het
Grifin	G	T	5: 140,549,342 (GRCm39)	H125N	possibly damaging	Het
H1f9	A	G	11: 94,858,989 (GRCm39)	T95A	possibly damaging	Het
Hmcn1	A	G	1: 150,506,078 (GRCm39)	V3816A	probably damaging	Het
Hspa14	A	G	2: 3,499,207 (GRCm39)	F196L	probably benign	Het
Ice1	T	C	13: 70,754,620 (GRCm39)	K489E	probably benign	Het
Jmjd6	C	T	11: 116,730,682 (GRCm39)	W117*	probably null	Het
Mc3r	T	C	2: 172,091,092 (GRCm39)	S105P	probably benign	Het
Mccc1	A	G	3: 36,018,531 (GRCm39)	V601A	probably benign	Het
Myo1f	A	G	17: 33,795,627 (GRCm39)	D91G	probably damaging	Het
Myo1f	G	A	17: 33,799,259 (GRCm39)	E255K	possibly damaging	Het
Necap1	T	A	6: 122,858,503 (GRCm39)	D115E	probably benign	Het
Or4b12	A	T	2: 90,096,786 (GRCm39)		probably null	Het
Or4k15b	G	A	14: 50,272,444 (GRCm39)	R139C	probably benign	Het
Or51b6	T	A	7: 103,555,883 (GRCm39)	M79K	probably damaging	Het
Papln	A	G	12: 83,818,652 (GRCm39)	E78G	probably null	Het
Phldb3	T	C	7: 24,326,147 (GRCm39)		probably null	Het
Pkd1l2	A	G	8: 117,724,321 (GRCm39)	I2394T	probably damaging	Het
Ppa2	A	T	3: 133,036,200 (GRCm39)	N118I	probably damaging	Het
Ppef2	A	T	5: 92,398,388 (GRCm39)	C43*	probably null	Het
Pramel51	A	G	12: 88,143,111 (GRCm39)	L169P	probably damaging	Het
Rab27a	G	A	9: 72,992,321 (GRCm39)		probably null	Het
Rabgap1l	A	T	1: 160,169,683 (GRCm39)	F47I	probably damaging	Het
Rala	A	G	13: 18,067,746 (GRCm39)	I95T	probably damaging	Het
Rgl2	A	G	17: 34,151,691 (GRCm39)	D245G	probably benign	Het
Rnf34	A	T	5: 123,002,146 (GRCm39)	T35S	probably damaging	Het
Ros1	C	T	10: 52,057,894 (GRCm39)	R51Q	probably benign	Het
Samd9l	T	C	6: 3,372,716 (GRCm39)	D1515G	possibly damaging	Het
Scn7a	T	C	2: 66,505,870 (GRCm39)	E1673G	probably benign	Het
Slc6a20a	A	C	9: 123,470,773 (GRCm39)		probably null	Het
Tdrd5	A	T	1: 156,122,070 (GRCm39)	S280T	probably damaging	Het
Tent2	A	T	13: 93,312,246 (GRCm39)	C180*	probably null	Het
Tie1	T	C	4: 118,332,800 (GRCm39)	I911V	possibly damaging	Het
Vipas39	G	A	12: 87,298,581 (GRCm39)	R194*	probably null	Het
Ybx3	A	C	6: 131,345,451 (GRCm39)	N307K	possibly damaging	Het
Ylpm1	A	T	12: 85,088,899 (GRCm39)	H1216L	probably damaging	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
R5226:Lrit2	UTSW	14	36,794,310 (GRCm39)	missense	probably damaging	1.00
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
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'- GAGGTCAGTGCCTATGTTGAC -3'
(R):5'- TCACTGAAGTTGTATGGACCCTG -3'

Sequencing Primer
(F):5'- CAGTGCCTATGTTGACCTACGAG -3'
(R):5'- AAGTTGTATGGACCCTGGGATAC -3'

Posted On

2017-02-10