Mutagenetix > Incidental Mutation

Incidental Mutation 'R7829:Lrrc23'

602324

Institutional Source

Beutler Lab

Gene Symbol

Lrrc23

Ensembl Gene

ENSMUSG00000030125

Gene Name

leucine rich repeat containing 23

Synonyms

Lrpb7, 4921537K05Rik

MMRRC Submission

045883-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7829 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

124746826-124756690 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 124747711 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 293 (M293L)

Ref Sequence

ENSEMBL: ENSMUSP00000108094 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004378] [ENSMUST00000032218] [ENSMUST00000112475] [ENSMUST00000112476] [ENSMUST00000127274] [ENSMUST00000135626] [ENSMUST00000138770] [ENSMUST00000149652] [ENSMUST00000151214] [ENSMUST00000156033] [ENSMUST00000204896]

AlphaFold

O35125

Predicted Effect

probably benign
Transcript: ENSMUST00000004378

SMART Domains

Protein: ENSMUSP00000004378
Gene: ENSMUSG00000004267

Domain	Start	End	E-Value	Type
Enolase_N	3	134	2.62e-93	SMART
Enolase_C	142	431	2.62e-207	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000032218
AA Change: M293L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000032218
Gene: ENSMUSG00000030125
AA Change: M293L

Domain	Start	End	E-Value	Type
coiled coil region	12	40	N/A	INTRINSIC
Pfam:LRR_1	89	109	1.2e-2	PFAM
LRR	196	217	1.33e2	SMART
LRR	218	239	4.97e0	SMART
LRR	241	263	3.27e1	SMART
low complexity region	305	314	N/A	INTRINSIC
low complexity region	323	332	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112475
AA Change: M293L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000108094
Gene: ENSMUSG00000030125
AA Change: M293L

Domain	Start	End	E-Value	Type
coiled coil region	12	40	N/A	INTRINSIC
internal_repeat_1	90	182	7.1e-5	PROSPERO
LRR	196	217	1.33e2	SMART
LRR	218	239	4.97e0	SMART
LRR	241	263	3.27e1	SMART
low complexity region	305	314	N/A	INTRINSIC
low complexity region	323	332	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112476

SMART Domains

Protein: ENSMUSP00000108095
Gene: ENSMUSG00000004267

Domain	Start	End	E-Value	Type
Enolase_N	3	118	2.39e-55	SMART
Enolase_C	71	312	9.08e-120	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000127274

Predicted Effect

probably benign
Transcript: ENSMUST00000135626

SMART Domains

Protein: ENSMUSP00000114500
Gene: ENSMUSG00000004267

Domain	Start	End	E-Value	Type
Enolase_N	3	118	2.39e-55	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000138770

Predicted Effect

probably benign
Transcript: ENSMUST00000149652

SMART Domains

Protein: ENSMUSP00000119112
Gene: ENSMUSG00000004267

Domain	Start	End	E-Value	Type
Enolase_N	3	134	2.62e-93	SMART
Pfam:Enolase_C	142	162	4.2e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000151214

Predicted Effect

probably benign
Transcript: ENSMUST00000156033

SMART Domains

Protein: ENSMUSP00000144698
Gene: ENSMUSG00000004267

Domain	Start	End	E-Value	Type
Enolase_N	3	58	5.2e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000204896

SMART Domains

Protein: ENSMUSP00000144861
Gene: ENSMUSG00000004267

Domain	Start	End	E-Value	Type
Enolase_N	3	91	8e-52	SMART
Enolase_C	99	388	1.3e-211	SMART

Coding Region Coverage

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

Validation Efficiency

97% (61/63)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	C	G	11: 58,770,823 (GRCm39)	L102V	not run	Het
Abca12	A	T	1: 71,331,580 (GRCm39)	S1323R	probably benign	Het
Abcb1a	T	A	5: 8,748,623 (GRCm39)	I318N	probably benign	Het
Adam10	A	T	9: 70,674,209 (GRCm39)	K524*	probably null	Het
Adamts3	C	T	5: 90,009,349 (GRCm39)	G105R	probably damaging	Het
Adcy7	T	C	8: 89,042,387 (GRCm39)	I418T	probably damaging	Het
Alg9	T	A	9: 50,699,471 (GRCm39)	F165L	probably damaging	Het
Anapc2	G	T	2: 25,167,753 (GRCm39)	R440L	probably damaging	Het
Arhgef17	A	T	7: 100,526,052 (GRCm39)	H1876Q	probably benign	Het
Armc2	G	A	10: 41,802,856 (GRCm39)	R606C	probably benign	Het
Cd163	T	C	6: 124,281,738 (GRCm39)	S14P	probably benign	Het
Cfap74	T	C	4: 155,513,694 (GRCm39)	V502A		Het
Copb2	T	C	9: 98,470,147 (GRCm39)	I891T	probably damaging	Het
Creb3	T	C	4: 43,566,322 (GRCm39)	L276P	probably damaging	Het
Crnkl1	T	A	2: 145,773,269 (GRCm39)	M126L	probably benign	Het
Csrp2	C	T	10: 110,771,045 (GRCm39)	A50V	probably damaging	Het
Ctsd	A	G	7: 141,930,879 (GRCm39)	C284R	probably damaging	Het
Dll3	G	A	7: 27,994,075 (GRCm39)	A454V	probably damaging	Het
Dmbx1	C	T	4: 115,781,104 (GRCm39)		probably benign	Het
Dnah6	C	A	6: 73,104,902 (GRCm39)	E1896*	probably null	Het
Dtwd1	A	G	2: 126,006,679 (GRCm39)	T234A	probably damaging	Het
Fhod3	G	A	18: 25,248,947 (GRCm39)		probably null	Het
Gm10549	C	A	18: 33,597,463 (GRCm39)		probably benign	Het
Gm7298	T	C	6: 121,742,297 (GRCm39)	I495T	probably damaging	Het
Grhl3	T	C	4: 135,288,532 (GRCm39)	N51S	probably damaging	Het
Gtpbp4	A	T	13: 9,035,366 (GRCm39)		probably null	Het
Hsd17b14	A	C	7: 45,216,209 (GRCm39)	S260R	probably benign	Het
Insig2	A	T	1: 121,235,058 (GRCm39)		probably null	Het
Itgae	T	A	11: 73,029,618 (GRCm39)	V1046D	probably benign	Het
Kif1b	A	T	4: 149,305,447 (GRCm39)		probably null	Het
Kmo	A	G	1: 175,478,225 (GRCm39)		probably null	Het
Loxhd1	A	G	18: 77,496,483 (GRCm39)	N29S	probably damaging	Het
Lrp1b	A	T	2: 40,793,460 (GRCm39)	C2484*	probably null	Het
Mphosph6	T	C	8: 118,525,807 (GRCm39)	D47G	probably benign	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Naglu	G	A	11: 100,967,436 (GRCm39)	R462H	probably damaging	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nlrc5	T	C	8: 95,248,397 (GRCm39)	S1711P	probably damaging	Het
Or10al7	T	C	17: 38,366,220 (GRCm39)	Y79C	possibly damaging	Het
Or1o2	T	C	17: 37,543,201 (GRCm39)	E20G	probably benign	Het
Or6k2	A	T	1: 173,986,425 (GRCm39)	I29F	probably benign	Het
Osbpl6	G	A	2: 76,423,731 (GRCm39)	A857T	probably damaging	Het
Oscp1	C	A	4: 125,982,201 (GRCm39)	D380E	probably benign	Het
Pdzd7	C	A	19: 45,027,678 (GRCm39)	R265S	probably benign	Het
Piezo2	A	T	18: 63,246,947 (GRCm39)		probably null	Het
Pigc	G	A	1: 161,798,033 (GRCm39)	R5H	probably benign	Het
Pla2g5	C	A	4: 138,531,845 (GRCm39)	R53L	probably benign	Het
Rbm6	T	C	9: 107,729,905 (GRCm39)	R248G	probably damaging	Het
Rev1	A	T	1: 38,095,526 (GRCm39)	L877Q	probably damaging	Het
Rpap3	A	T	15: 97,579,589 (GRCm39)	N474K	probably benign	Het
Ryr2	T	A	13: 11,842,493 (GRCm39)	E468V	possibly damaging	Het
Samd9l	A	C	6: 3,374,749 (GRCm39)	D837E	probably benign	Het
Sipa1l2	T	C	8: 126,178,727 (GRCm39)	N1124S	probably damaging	Het
Slc11a2	G	A	15: 100,307,142 (GRCm39)	A83V	possibly damaging	Het
Slfn14	A	G	11: 83,172,643 (GRCm39)		probably null	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638 (GRCm39)		probably benign	Het
Suclg1	A	G	6: 73,252,226 (GRCm39)		probably null	Het
Syne1	A	C	10: 5,292,293 (GRCm39)	V1325G	probably damaging	Het
Tmprss15	T	C	16: 78,784,538 (GRCm39)	S706G	probably benign	Het
Tox2	T	C	2: 163,162,296 (GRCm39)	Y389H	probably damaging	Het
Trappc10	T	C	10: 78,034,909 (GRCm39)	T946A	probably benign	Het
Ubqln1	C	T	13: 58,325,719 (GRCm39)	E546K	probably damaging	Het
Zfp106	A	G	2: 120,354,538 (GRCm39)	V1411A	possibly damaging	Het
Zkscan5	A	T	5: 145,155,513 (GRCm39)	K395*	probably null	Het

Other mutations in Lrrc23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Lrrc23	APN	6	124,755,889 (GRCm39)	missense	probably damaging	1.00
IGL01123:Lrrc23	APN	6	124,755,782 (GRCm39)	missense	probably benign	0.04
IGL02429:Lrrc23	APN	6	124,755,130 (GRCm39)	missense	probably damaging	0.99
IGL02892:Lrrc23	APN	6	124,751,399 (GRCm39)	missense	probably benign	0.03
R0440:Lrrc23	UTSW	6	124,747,667 (GRCm39)	missense	probably benign	0.00
R0637:Lrrc23	UTSW	6	124,755,321 (GRCm39)	unclassified	probably benign
R1055:Lrrc23	UTSW	6	124,755,114 (GRCm39)	missense	probably damaging	1.00
R1125:Lrrc23	UTSW	6	124,753,145 (GRCm39)	missense	probably benign	0.06
R1531:Lrrc23	UTSW	6	124,753,077 (GRCm39)	missense	possibly damaging	0.91
R4156:Lrrc23	UTSW	6	124,747,804 (GRCm39)	nonsense	probably null
R4838:Lrrc23	UTSW	6	124,755,152 (GRCm39)	missense	probably benign	0.16
R5296:Lrrc23	UTSW	6	124,751,445 (GRCm39)	missense	probably damaging	0.98
R7211:Lrrc23	UTSW	6	124,755,152 (GRCm39)	missense	probably benign	0.16
R7426:Lrrc23	UTSW	6	124,756,088 (GRCm39)	missense	unknown
R7488:Lrrc23	UTSW	6	124,756,075 (GRCm39)	missense	unknown
R7583:Lrrc23	UTSW	6	124,756,541 (GRCm39)	start gained	probably benign
R8289:Lrrc23	UTSW	6	124,755,267 (GRCm39)	missense	probably damaging	1.00
R8726:Lrrc23	UTSW	6	124,753,043 (GRCm39)	missense	probably benign	0.03
R9196:Lrrc23	UTSW	6	124,755,189 (GRCm39)	missense	possibly damaging	0.77
R9384:Lrrc23	UTSW	6	124,755,189 (GRCm39)	missense	possibly damaging	0.77

Predicted Primers

PCR Primer
(F):5'- TTTACTGTCCCTGCAGGCTG -3'
(R):5'- ATCATTGCTTTCGGGGAGC -3'

Sequencing Primer
(F):5'- CTGGAAGAGCCACTAAACTGGTG -3'
(R):5'- GAGTTGCTTCCTCTTACAAAGGCAG -3'

Posted On

2019-12-03