Mutagenetix > Incidental Mutation

Incidental Mutation 'R9384:Lrrc23'

710205

Institutional Source

Beutler Lab

Gene Symbol

Lrrc23

Ensembl Gene

ENSMUSG00000030125

Gene Name

leucine rich repeat containing 23

Synonyms

Lrpb7, 4921537K05Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9384 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

124746826-124756690 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124755189 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 116 (K116R)

Ref Sequence

ENSEMBL: ENSMUSP00000108094 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032218] [ENSMUST00000112475] [ENSMUST00000128697] [ENSMUST00000147669]

AlphaFold

O35125

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032218
AA Change: K116R

PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000032218
Gene: ENSMUSG00000030125
AA Change: K116R

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

possibly damaging
Transcript: ENSMUST00000112475
AA Change: K116R

PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000108094
Gene: ENSMUSG00000030125
AA Change: K116R

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: ENSMUST00000128697

SMART Domains

Protein: ENSMUSP00000122362
Gene: ENSMUSG00000030125

Domain	Start	End	E-Value	Type
coiled coil region	12	40	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000147669

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A3galt2	G	A	4: 128,655,851 (GRCm39)	C73Y	probably damaging	Het
Agrn	C	T	4: 156,257,106 (GRCm39)	A1213T	probably damaging	Het
Arhgef10	T	C	8: 15,041,067 (GRCm39)	L1079P	probably damaging	Het
Cdcp3	T	C	7: 130,904,404 (GRCm39)	V2374A	unknown	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Coro6	A	G	11: 77,360,218 (GRCm39)	E436G	probably benign	Het
D430041D05Rik	A	G	2: 104,087,920 (GRCm39)	V352A	probably benign	Het
Dcbld2	C	T	16: 58,285,926 (GRCm39)	T695I	probably damaging	Het
Dclk1	A	C	3: 55,154,936 (GRCm39)	Q122P	possibly damaging	Het
Dsel	C	A	1: 111,787,863 (GRCm39)	E891*	probably null	Het
Eral1	A	T	11: 77,969,130 (GRCm39)	N123K	probably damaging	Het
Fzd6	C	A	15: 38,895,102 (GRCm39)	L423M	probably damaging	Het
Fzd6	T	G	15: 38,895,103 (GRCm39)	L423R	probably damaging	Het
Galntl6	G	T	8: 58,415,461 (GRCm39)	L231I	probably damaging	Het
Gm7137	A	G	10: 77,623,614 (GRCm39)	S141P	unknown	Het
Grm5	T	C	7: 87,723,518 (GRCm39)	Y603H	probably damaging	Het
Hcar2	A	T	5: 124,002,597 (GRCm39)	F302Y	probably benign	Het
Hs3st1	T	G	5: 39,771,962 (GRCm39)	D227A	possibly damaging	Het
Igkv7-33	G	T	6: 70,036,174 (GRCm39)	Q4K	possibly damaging	Het
Itprid1	A	T	6: 55,952,613 (GRCm39)	Q852L	probably damaging	Het
Kcp	C	T	6: 29,496,618 (GRCm39)		probably null	Het
Lrriq1	T	A	10: 103,006,458 (GRCm39)	R1222S	probably benign	Het
Nav3	T	A	10: 109,554,158 (GRCm39)	I1735F	probably damaging	Het
Neto1	A	T	18: 86,413,965 (GRCm39)		probably benign	Het
Nlrp9a	T	A	7: 26,258,158 (GRCm39)	L592Q	probably damaging	Het
Or1e30	C	A	11: 73,677,796 (GRCm39)	Q11K	probably benign	Het
Or5t7	T	A	2: 86,507,357 (GRCm39)	T107S	probably benign	Het
Pcdhb20	T	A	18: 37,638,024 (GRCm39)	H183Q	probably benign	Het
Pde4b	A	G	4: 102,112,448 (GRCm39)	T11A	probably benign	Het
Pou2af3	T	C	9: 51,183,638 (GRCm39)	N112S	probably benign	Het
Ptcd3	A	G	6: 71,874,110 (GRCm39)	S234P	possibly damaging	Het
Rtn4	T	C	11: 29,658,471 (GRCm39)	V875A	probably benign	Het
Slc12a8	T	A	16: 33,466,947 (GRCm39)	C485S	probably benign	Het
Smc1b	A	G	15: 84,950,455 (GRCm39)	S1190P	probably damaging	Het
Sorbs2	A	G	8: 46,258,864 (GRCm39)	R1134G	probably benign	Het
Sugt1	T	C	14: 79,866,388 (GRCm39)	Y336H	probably damaging	Het
Tas2r134	A	T	2: 51,518,034 (GRCm39)	Y171F	probably damaging	Het
Tdrd6	A	T	17: 43,937,783 (GRCm39)	D1088E	probably benign	Het
Tgfbrap1	A	T	1: 43,095,912 (GRCm39)	W509R	probably damaging	Het
Tmem115	T	C	9: 107,411,742 (GRCm39)	V22A	possibly damaging	Het
Tmem260	A	G	14: 48,724,276 (GRCm39)	T223A	probably benign	Het
Tmprss6	G	A	15: 78,328,302 (GRCm39)	H565Y	probably damaging	Het
Ubr4	A	G	4: 139,194,631 (GRCm39)	S1175G	unknown	Het
Uspl1	T	C	5: 149,151,349 (GRCm39)	S850P	probably benign	Het
Vmn2r11	C	A	5: 109,201,266 (GRCm39)	A413S	probably damaging	Het
Vmn2r19	T	G	6: 123,292,923 (GRCm39)	S322A	probably benign	Het
Zfp606	T	A	7: 12,227,935 (GRCm39)	C685*	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
R7829:Lrrc23	UTSW	6	124,747,711 (GRCm39)	missense	probably benign	0.00
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

Predicted Primers

PCR Primer
(F):5'- TCTGTCAGCTCCTCACTAGG -3'
(R):5'- AAGGCTTCTCTGCATTGCTC -3'

Sequencing Primer
(F):5'- CTAGGAAGGGAAGGTCTGTGTATCTC -3'
(R):5'- TCCATCTTCGCTATGTGG -3'

Posted On

2022-04-18