Mutagenetix > Incidental Mutation

Incidental Mutation 'R9517:Lrit2'

718674

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

Accession Numbers

Essential gene?

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

Stock #

R9517 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

36789886-36795700 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 36794272 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 445 (C445*)

Ref Sequence

ENSEMBL: ENSMUSP00000056642 (fasta)

Gene Model

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

AlphaFold

Q6PFC5

Predicted Effect

probably null
Transcript: ENSMUST00000057176
AA Change: C445*

SMART Domains

Protein: ENSMUSP00000056642
Gene: ENSMUSG00000043418
AA Change: C445*

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	T	6: 23,113,528 (GRCm39)	V264E	probably damaging	Het
Abca15	A	G	7: 119,987,424 (GRCm39)	I1237V	probably benign	Het
Actn2	G	T	13: 12,295,317 (GRCm39)	Q552K	probably damaging	Het
Adnp	A	T	2: 168,024,866 (GRCm39)	C810S	possibly damaging	Het
Aip	A	T	19: 4,168,217 (GRCm39)	I50K	possibly damaging	Het
Arsk	A	G	13: 76,210,638 (GRCm39)	S470P	probably damaging	Het
Aspm	T	A	1: 139,407,167 (GRCm39)	I2018K	probably damaging	Het
Aspn	G	A	13: 49,705,275 (GRCm39)	D46N		Het
C6	G	T	15: 4,827,914 (GRCm39)	C761F	probably damaging	Het
Cdk12	A	T	11: 98,109,910 (GRCm39)	T644S	unknown	Het
Cela3a	T	A	4: 137,131,825 (GRCm39)	I123F	probably damaging	Het
Chchd3	A	T	6: 33,026,317 (GRCm39)	S42T	probably benign	Het
Chst5	A	G	8: 112,616,652 (GRCm39)	S323P	possibly damaging	Het
Clec4g	C	A	8: 3,767,452 (GRCm39)	A198S	probably damaging	Het
Dcbld2	T	G	16: 58,253,819 (GRCm39)	D185E	probably benign	Het
Dnah17	A	G	11: 117,915,440 (GRCm39)	V4393A	possibly damaging	Het
Dock9	T	C	14: 121,829,236 (GRCm39)	T1392A	probably benign	Het
Ell2	A	G	13: 75,912,106 (GRCm39)	K464R	possibly damaging	Het
Eme2	G	A	17: 25,114,033 (GRCm39)		probably benign	Het
Eps8l1	T	A	7: 4,480,636 (GRCm39)	I530N	probably damaging	Het
Fam186b	G	A	15: 99,177,616 (GRCm39)	A570V	probably damaging	Het
Fbxw25	A	G	9: 109,480,892 (GRCm39)	Y263H		Het
Frem1	T	C	4: 82,901,714 (GRCm39)	Y938C	probably damaging	Het
Gdf10	A	G	14: 33,654,522 (GRCm39)	D343G	probably benign	Het
Gm3415	C	T	5: 146,493,406 (GRCm39)	R84C	possibly damaging	Het
Hap1	A	T	11: 100,240,188 (GRCm39)	V536D	possibly damaging	Het
Icos	T	C	1: 61,032,894 (GRCm39)	F31S	probably damaging	Het
Inpp5d	T	A	1: 87,638,853 (GRCm39)	S812T	probably benign	Het
Kcng4	A	G	8: 120,353,070 (GRCm39)	V280A	probably benign	Het
Ldlr	T	C	9: 21,655,240 (GRCm39)	V623A	possibly damaging	Het
Lipc	T	C	9: 70,709,560 (GRCm39)	T396A	probably benign	Het
Lrrc37	G	A	11: 103,433,416 (GRCm39)	T3251I	unknown	Het
Mcc	C	A	18: 44,794,794 (GRCm39)	G10C	probably damaging	Het
Mtfr1l	T	C	4: 134,256,515 (GRCm39)	T217A	probably benign	Het
Mtrr	A	T	13: 68,728,730 (GRCm39)	S23R	probably benign	Het
Myb	C	T	10: 21,030,612 (GRCm39)	D62N	probably benign	Het
Myo7a	A	T	7: 97,721,166 (GRCm39)	D1255E	probably damaging	Het
Nfatc1	T	C	18: 80,725,406 (GRCm39)	K453E	probably damaging	Het
Nrap	A	T	19: 56,360,277 (GRCm39)	M466K	probably benign	Het
Or10j3	C	A	1: 173,031,346 (GRCm39)	A141D	possibly damaging	Het
Or11g26	C	A	14: 50,752,770 (GRCm39)	F36L	probably benign	Het
Or4c106	G	A	2: 88,682,947 (GRCm39)	V218I	probably benign	Het
Or4f54	T	G	2: 111,123,033 (GRCm39)	M140R	possibly damaging	Het
Or8b41	T	A	9: 38,054,623 (GRCm39)	M59K	probably damaging	Het
Osbpl1a	A	G	18: 13,042,965 (GRCm39)	V192A	probably benign	Het
Pgd	T	C	4: 149,249,668 (GRCm39)	T35A	possibly damaging	Het
Plcxd3	G	T	15: 4,405,160 (GRCm39)		probably benign	Het
Pramel23	T	A	4: 143,424,930 (GRCm39)	D171V	possibly damaging	Het
Prmt7	A	G	8: 106,953,930 (GRCm39)	T124A	probably damaging	Het
Pzp	A	G	6: 128,489,117 (GRCm39)		probably null	Het
Rilpl2	A	G	5: 124,607,788 (GRCm39)	V144A	probably benign	Het
Rin3	T	C	12: 102,334,895 (GRCm39)	S269P	unknown	Het
Setbp1	T	C	18: 78,901,322 (GRCm39)	S782G	probably damaging	Het
Sgce	A	T	6: 4,694,153 (GRCm39)	F268I	probably damaging	Het
Sox6	A	G	7: 115,111,970 (GRCm39)	L552S	possibly damaging	Het
Tent4a	A	G	13: 69,655,059 (GRCm39)	C472R	probably damaging	Het
Vipr1	G	A	9: 121,471,993 (GRCm39)		probably null	Het
Vmn1r11	A	G	6: 57,114,555 (GRCm39)	D73G	possibly damaging	Het
Vmn1r39	A	C	6: 66,782,258 (GRCm39)	I20R	possibly damaging	Het
Vmn2r82	C	T	10: 79,213,641 (GRCm39)	R76*	probably null	Het
Zhx1	A	T	15: 57,915,812 (GRCm39)	Y811*	probably null	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
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
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'- ACAGTGCATGGCATCTTGCTG -3'
(R):5'- AGGGTTTTCCTGTGAAGAGGAC -3'

Sequencing Primer
(F):5'- AGTGACCAACCTTGCTGAG -3'
(R):5'- TTTTCCTGTGAAGAGGACAACGG -3'

Posted On

2022-07-18