Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00336:Lrrc23'

5373

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lrrc23

Ensembl Gene

ENSMUSG00000030125

Gene Name

leucine rich repeat containing 23

Synonyms

4921537K05Rik, Lrpb7

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00336

Quality Score

Status

Chromosome

Chromosomal Location

124769863-124779727 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 124778926 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 40 (W40R)

Ref Sequence

ENSEMBL: ENSMUSP00000122362 (fasta)

Gene Model

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

AlphaFold

O35125

Predicted Effect

probably damaging
Transcript: ENSMUST00000032218
AA Change: W40R

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

SMART Domains

Protein: ENSMUSP00000032218
Gene: ENSMUSG00000030125
AA Change: W40R

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 damaging
Transcript: ENSMUST00000112475
AA Change: W40R

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

SMART Domains

Protein: ENSMUSP00000108094
Gene: ENSMUSG00000030125
AA Change: W40R

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 damaging
Transcript: ENSMUST00000128697
AA Change: W40R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000122362
Gene: ENSMUSG00000030125
AA Change: W40R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132492

Predicted Effect

unknown
Transcript: ENSMUST00000147669
AA Change: W40R

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	A	T	13: 63,015,423	D86V	possibly damaging	Het
A430033K04Rik	A	G	5: 138,647,104	Y417C	probably damaging	Het
Adam28	T	A	14: 68,622,120	H548L	possibly damaging	Het
AF529169	T	C	9: 89,603,143	D67G	probably damaging	Het
Agbl3	A	T	6: 34,846,836	D812V	probably damaging	Het
Aox1	T	A	1: 58,059,044	L305Q	probably damaging	Het
Arhgef38	A	G	3: 133,132,051	V706A	probably benign	Het
Arl15	A	G	13: 114,154,752	I171V	probably benign	Het
Cacna1s	C	A	1: 136,084,273	Y237*	probably null	Het
Ccnt1	T	C	15: 98,565,109	T61A	possibly damaging	Het
Col25a1	T	A	3: 130,181,784		probably benign	Het
Col4a1	T	A	8: 11,240,077		probably benign	Het
Dcun1d1	T	C	3: 35,916,306	E130G	possibly damaging	Het
Dnah7b	G	A	1: 46,142,149	M1065I	probably benign	Het
Ephb2	T	G	4: 136,657,484	K872T	probably damaging	Het
Fga	G	A	3: 83,031,674	G452D	probably damaging	Het
Flrt1	T	A	19: 7,096,912	N90I	probably damaging	Het
Fut10	T	A	8: 31,195,291		probably null	Het
Gm4553	T	C	7: 142,165,227	S155G	unknown	Het
Gpr137b	T	C	13: 13,374,415		probably benign	Het
Gprc5d	G	A	6: 135,116,490	Q140*	probably null	Het
Ifi27l2b	T	C	12: 103,451,217	K237R	unknown	Het
Ipo8	A	T	6: 148,782,786	M836K	possibly damaging	Het
Kcnq4	G	A	4: 120,698,016	Q657*	probably null	Het
Lama1	A	T	17: 67,813,948	H2693L	probably benign	Het
Morn2	C	A	17: 80,295,504		probably benign	Het
Ms4a6b	T	A	19: 11,529,490	N214K	possibly damaging	Het
Nags	A	T	11: 102,149,066	S527C	probably damaging	Het
Ndst1	C	T	18: 60,707,956	G218D	probably damaging	Het
Olfr1097	C	T	2: 86,890,245	C310Y	probably benign	Het
Olfr1442	T	A	19: 12,674,560	Y118*	probably null	Het
Olfr16	G	A	1: 172,957,478	V228M	probably benign	Het
Oxa1l	G	T	14: 54,363,345	G92*	probably null	Het
Parp16	A	T	9: 65,229,963	E157V	probably damaging	Het
Pcdh17	A	T	14: 84,447,544	I484F	probably damaging	Het
Pex16	A	G	2: 92,379,235	R263G	probably benign	Het
Pkd1l3	G	A	8: 109,630,237	E765K	possibly damaging	Het
Plce1	T	C	19: 38,651,906	V532A	probably damaging	Het
Polq	A	G	16: 37,065,247		probably benign	Het
Pramel5	T	C	4: 144,271,621	T351A	probably damaging	Het
Prokr1	A	T	6: 87,588,611	I84N	probably damaging	Het
Prss30	A	T	17: 23,973,721	S162T	probably benign	Het
Ranbp2	A	G	10: 58,451,984	K25E	probably damaging	Het
Rapsn	A	G	2: 91,035,860	T22A	probably damaging	Het
Rhoj	G	T	12: 75,308,906	G9V	probably damaging	Het
Rnf213	A	G	11: 119,449,343	R3467G	probably benign	Het
Rreb1	C	A	13: 37,929,646	S327*	probably null	Het
Scn5a	G	A	9: 119,486,224	P1806L	probably damaging	Het
Sema6a	C	A	18: 47,289,975		probably null	Het
Stag3	G	A	5: 138,297,659	E416K	probably benign	Het
Stpg1	T	A	4: 135,529,545	S216T	possibly damaging	Het
Tfeb	C	A	17: 47,791,664	N426K	probably benign	Het
Trp53bp1	G	T	2: 121,256,579	Q199K	possibly damaging	Het
Ubr4	A	G	4: 139,428,566	D2234G	probably damaging	Het
Ush1c	T	G	7: 46,196,770	Q866P	probably benign	Het
Vdr	T	A	15: 97,884,854	D29V	probably damaging	Het
Vps13c	T	C	9: 67,945,942	V2439A	probably benign	Het
Xirp2	T	C	2: 67,512,598	S1728P	possibly damaging	Het
Zfp9	A	G	6: 118,464,475	S409P	probably damaging	Het

Other mutations in Lrrc23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01123:Lrrc23	APN	6	124778819	missense	probably benign	0.04
IGL02429:Lrrc23	APN	6	124778167	missense	probably damaging	0.99
IGL02892:Lrrc23	APN	6	124774436	missense	probably benign	0.03
R0440:Lrrc23	UTSW	6	124770704	missense	probably benign	0.00
R0637:Lrrc23	UTSW	6	124778358	unclassified	probably benign
R1055:Lrrc23	UTSW	6	124778151	missense	probably damaging	1.00
R1125:Lrrc23	UTSW	6	124776182	missense	probably benign	0.06
R1531:Lrrc23	UTSW	6	124776114	missense	possibly damaging	0.91
R4156:Lrrc23	UTSW	6	124770841	nonsense	probably null
R4838:Lrrc23	UTSW	6	124778189	missense	probably benign	0.16
R5296:Lrrc23	UTSW	6	124774482	missense	probably damaging	0.98
R7211:Lrrc23	UTSW	6	124778189	missense	probably benign	0.16
R7426:Lrrc23	UTSW	6	124779125	missense	unknown
R7488:Lrrc23	UTSW	6	124779112	missense	unknown
R7583:Lrrc23	UTSW	6	124779578	start gained	probably benign
R7829:Lrrc23	UTSW	6	124770748	missense	probably benign	0.00
R8289:Lrrc23	UTSW	6	124778304	missense	probably damaging	1.00
R8726:Lrrc23	UTSW	6	124776080	missense	probably benign	0.03
R9196:Lrrc23	UTSW	6	124778226	missense	possibly damaging	0.77
R9384:Lrrc23	UTSW	6	124778226	missense	possibly damaging	0.77

Posted On

2012-04-20