Mutagenetix > Incidental Mutation

Incidental Mutation 'R4563:Lrrc71'

343185

Institutional Source

Beutler Lab

Gene Symbol

Lrrc71

Ensembl Gene

ENSMUSG00000023084

Gene Name

leucine rich repeat containing 71

Synonyms

4933430H15Rik

MMRRC Submission

041788-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4563 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87644230-87655932 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 87652715 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133323 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023846] [ENSMUST00000029714] [ENSMUST00000079083] [ENSMUST00000090981] [ENSMUST00000172621] [ENSMUST00000174713] [ENSMUST00000174267] [ENSMUST00000174759]

AlphaFold

Q9D3W5

Predicted Effect

probably benign
Transcript: ENSMUST00000023846

SMART Domains

Protein: ENSMUSP00000023846
Gene: ENSMUSG00000023084

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
Blast:LRR	165	191	6e-7	BLAST
LRR	219	246	4.24e-1	SMART
LRR	251	278	1.33e-1	SMART
LRR	279	306	1.98e-4	SMART
low complexity region	312	323	N/A	INTRINSIC
low complexity region	329	337	N/A	INTRINSIC
low complexity region	376	390	N/A	INTRINSIC
low complexity region	407	414	N/A	INTRINSIC
LRR	472	499	1.83e2	SMART
low complexity region	547	557	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000029714

SMART Domains

Protein: ENSMUSP00000029714
Gene: ENSMUSG00000028073

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	67	78	N/A	INTRINSIC
EGF	102	130	3.82e-2	SMART
EGF_like	132	173	2.92e1	SMART
EGF_like	146	185	1.92e0	SMART
EGF_like	189	246	1.99e0	SMART
EGF	217	258	1.04e1	SMART
EGF_Lam	274	313	1.21e-4	SMART
EGF	312	344	4.03e-1	SMART
EGF_Lam	361	402	1.33e-1	SMART
EGF	401	433	1.18e-2	SMART
EGF_like	449	488	1.72e0	SMART
EGF	487	519	6.92e0	SMART
EGF_Lam	535	574	2.08e-3	SMART
EGF	573	605	5.49e-3	SMART
EGF_Lam	620	660	1.58e-3	SMART
EGF	659	691	3.1e-2	SMART
EGF	702	734	2.53e1	SMART
transmembrane domain	754	776	N/A	INTRINSIC
low complexity region	809	822	N/A	INTRINSIC
low complexity region	829	835	N/A	INTRINSIC
low complexity region	954	971	N/A	INTRINSIC
low complexity region	993	1002	N/A	INTRINSIC
low complexity region	1019	1031	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000079083

SMART Domains

Protein: ENSMUSP00000078090
Gene: ENSMUSG00000028073

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	67	78	N/A	INTRINSIC
EGF	102	130	3.82e-2	SMART
EGF_like	132	173	2.92e1	SMART
EGF_like	146	185	1.92e0	SMART
EGF_like	189	246	1.99e0	SMART
EGF	217	258	1.04e1	SMART
EGF_Lam	274	313	1.21e-4	SMART
EGF	312	344	4.03e-1	SMART
EGF_Lam	361	402	1.33e-1	SMART
EGF	401	433	1.18e-2	SMART
EGF_like	449	488	1.72e0	SMART
EGF	487	519	6.92e0	SMART
EGF_Lam	535	574	2.08e-3	SMART
EGF	573	605	5.49e-3	SMART
EGF_Lam	620	660	1.58e-3	SMART
EGF	659	691	3.1e-2	SMART
EGF	702	734	2.53e1	SMART
transmembrane domain	754	776	N/A	INTRINSIC
low complexity region	809	822	N/A	INTRINSIC
low complexity region	829	835	N/A	INTRINSIC
low complexity region	954	971	N/A	INTRINSIC
low complexity region	993	1002	N/A	INTRINSIC
low complexity region	1019	1031	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000090981

SMART Domains

Protein: ENSMUSP00000088503
Gene: ENSMUSG00000028073

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	67	78	N/A	INTRINSIC
EGF	102	130	3.82e-2	SMART
EGF_like	132	173	2.92e1	SMART
EGF_like	146	185	1.92e0	SMART
EGF_like	189	246	1.99e0	SMART
EGF	217	258	1.04e1	SMART
EGF_Lam	274	313	1.21e-4	SMART
EGF	312	344	4.03e-1	SMART
EGF_Lam	361	402	1.33e-1	SMART
EGF	401	433	1.18e-2	SMART
EGF_like	449	488	1.72e0	SMART
EGF	487	519	6.92e0	SMART
EGF_Lam	535	574	2.08e-3	SMART
EGF	573	605	5.49e-3	SMART
EGF_Lam	620	660	1.58e-3	SMART
EGF	659	691	3.1e-2	SMART
EGF	702	734	2.53e1	SMART
transmembrane domain	754	776	N/A	INTRINSIC
low complexity region	809	822	N/A	INTRINSIC
low complexity region	829	835	N/A	INTRINSIC
low complexity region	954	971	N/A	INTRINSIC
low complexity region	993	1002	N/A	INTRINSIC
low complexity region	1019	1031	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000172621

SMART Domains

Protein: ENSMUSP00000133474
Gene: ENSMUSG00000028073

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	67	78	N/A	INTRINSIC
EGF	102	130	3.82e-2	SMART
EGF_like	132	173	2.92e1	SMART
EGF_like	146	185	1.92e0	SMART
EGF_like	189	246	1.99e0	SMART
EGF	217	258	1.04e1	SMART
EGF_Lam	274	313	1.21e-4	SMART
EGF	312	344	4.03e-1	SMART
EGF_Lam	361	402	1.33e-1	SMART
EGF	401	433	1.18e-2	SMART
EGF_like	449	488	1.72e0	SMART
EGF	487	519	6.92e0	SMART
EGF_Lam	535	574	2.08e-3	SMART
EGF	573	605	5.49e-3	SMART
EGF_Lam	620	660	1.58e-3	SMART
EGF	659	691	3.1e-2	SMART
EGF	702	734	2.53e1	SMART
transmembrane domain	754	776	N/A	INTRINSIC
low complexity region	809	822	N/A	INTRINSIC
low complexity region	829	835	N/A	INTRINSIC
low complexity region	954	971	N/A	INTRINSIC
low complexity region	993	1002	N/A	INTRINSIC
low complexity region	1019	1031	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172631

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173490

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174208

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174381

Predicted Effect

probably benign
Transcript: ENSMUST00000174713

SMART Domains

Protein: ENSMUSP00000134215
Gene: ENSMUSG00000028073

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174581

SMART Domains

Protein: ENSMUSP00000134711
Gene: ENSMUSG00000023084

Domain	Start	End	E-Value	Type
Blast:LRR	67	94	1e-10	BLAST
low complexity region	142	152	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174267

SMART Domains

Protein: ENSMUSP00000133626
Gene: ENSMUSG00000028073

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174759

SMART Domains

Protein: ENSMUSP00000133323
Gene: ENSMUSG00000028073

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	67	78	N/A	INTRINSIC
EGF	102	130	3.82e-2	SMART
EGF_like	132	173	2.92e1	SMART
EGF_like	146	185	1.92e0	SMART
EGF_like	189	246	1.99e0	SMART
EGF	217	258	1.04e1	SMART
EGF_Lam	274	313	1.21e-4	SMART
EGF	312	344	4.03e-1	SMART
EGF_Lam	361	402	1.33e-1	SMART
EGF	401	433	1.18e-2	SMART
EGF_like	449	488	1.72e0	SMART
EGF	487	519	6.92e0	SMART
EGF_Lam	535	574	2.08e-3	SMART
EGF	573	605	5.49e-3	SMART
EGF_Lam	620	660	1.58e-3	SMART
EGF	659	691	3.1e-2	SMART
EGF	702	734	2.53e1	SMART
transmembrane domain	754	776	N/A	INTRINSIC
low complexity region	809	822	N/A	INTRINSIC
low complexity region	829	835	N/A	INTRINSIC
low complexity region	954	971	N/A	INTRINSIC
low complexity region	993	1002	N/A	INTRINSIC
low complexity region	1019	1031	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam17	A	G	12: 21,382,089 (GRCm39)	C591R	probably damaging	Het
Bace2	G	A	16: 97,223,180 (GRCm39)	R368Q	probably damaging	Het
Calm5	C	A	13: 3,904,402 (GRCm39)	S32*	probably null	Het
Ccdc198	T	A	14: 49,471,955 (GRCm39)	M152L	probably benign	Het
Cln3	G	T	7: 126,171,730 (GRCm39)	S346R	probably damaging	Het
G6pd2	G	A	5: 61,967,686 (GRCm39)	R487H	possibly damaging	Het
Glipr2	A	T	4: 43,977,600 (GRCm39)	N77Y	probably damaging	Het
Huwe1	A	T	X: 150,646,955 (GRCm39)	I682F	probably damaging	Het
Kbtbd2	A	G	6: 56,766,264 (GRCm39)	V37A	probably benign	Het
Kdm7a	C	T	6: 39,129,757 (GRCm39)	R473Q	probably damaging	Het
Mcm3	G	T	1: 20,879,869 (GRCm39)	R543S	probably benign	Het
Mgat4a	T	C	1: 37,505,660 (GRCm39)	D43G	probably damaging	Het
Mphosph8	T	C	14: 56,928,457 (GRCm39)	Y703H	probably benign	Het
Ncf2	T	C	1: 152,683,976 (GRCm39)		probably benign	Het
Nek6	T	G	2: 38,475,305 (GRCm39)	V282G	probably damaging	Het
Nhlrc1	T	C	13: 47,167,666 (GRCm39)	D197G	possibly damaging	Het
Nup93	G	T	8: 95,034,520 (GRCm39)	V612F	probably damaging	Het
Or5be3	C	T	2: 86,864,028 (GRCm39)	C179Y	probably damaging	Het
Or9i14	A	G	19: 13,792,646 (GRCm39)	F103L	probably benign	Het
Pafah1b2	T	C	9: 45,887,404 (GRCm39)	K36E	probably damaging	Het
Paqr9	A	G	9: 95,442,997 (GRCm39)	E329G	probably benign	Het
Pclo	A	G	5: 14,571,383 (GRCm39)	Q256R	probably damaging	Het
Pctp	A	T	11: 89,879,578 (GRCm39)	D94E	probably benign	Het
Pde8a	T	A	7: 80,958,568 (GRCm39)	Y315*	probably null	Het
Pex14	A	T	4: 149,126,225 (GRCm39)	V41D	probably damaging	Het
Ptgir	A	G	7: 16,640,794 (GRCm39)	M29V	possibly damaging	Het
Rasal2	T	C	1: 157,003,561 (GRCm39)	K366R	probably damaging	Het
Rprd1a	A	C	18: 24,640,160 (GRCm39)		probably null	Het
Senp8	A	C	9: 59,657,546 (GRCm39)	M1R	probably null	Het
Slc49a4	T	C	16: 35,518,312 (GRCm39)	Y467C	probably damaging	Het
Slco1b2	A	G	6: 141,616,893 (GRCm39)	T409A	probably benign	Het
Strc	T	C	2: 121,196,286 (GRCm39)	T1581A	probably benign	Het
Tmem117	T	C	15: 94,536,035 (GRCm39)	I23T	possibly damaging	Het
Ttc13	A	G	8: 125,402,016 (GRCm39)	L657P	probably damaging	Het
Ube4b	A	G	4: 149,443,622 (GRCm39)		probably benign	Het
Vmn1r125	A	G	7: 21,006,308 (GRCm39)	T69A	probably damaging	Het

Other mutations in Lrrc71

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02030:Lrrc71	APN	3	87,652,531 (GRCm39)	splice site	probably null
IGL02387:Lrrc71	APN	3	87,650,378 (GRCm39)	missense	probably damaging	0.96
IGL02632:Lrrc71	APN	3	87,650,647 (GRCm39)	missense	probably damaging	1.00
IGL02701:Lrrc71	APN	3	87,649,079 (GRCm39)	missense	probably benign	0.37
R0372:Lrrc71	UTSW	3	87,653,084 (GRCm39)	missense	probably benign	0.40
R0505:Lrrc71	UTSW	3	87,653,006 (GRCm39)	missense	probably damaging	0.98
R0827:Lrrc71	UTSW	3	87,649,952 (GRCm39)	splice site	probably null
R1511:Lrrc71	UTSW	3	87,652,791 (GRCm39)	missense	probably benign	0.00
R1541:Lrrc71	UTSW	3	87,649,148 (GRCm39)	missense	possibly damaging	0.87
R1987:Lrrc71	UTSW	3	87,649,950 (GRCm39)	missense	probably benign	0.25
R2054:Lrrc71	UTSW	3	87,649,980 (GRCm39)	missense	probably damaging	1.00
R2143:Lrrc71	UTSW	3	87,652,828 (GRCm39)	nonsense	probably null
R2427:Lrrc71	UTSW	3	87,653,309 (GRCm39)	missense	probably benign
R3700:Lrrc71	UTSW	3	87,653,185 (GRCm39)	splice site	probably null
R4073:Lrrc71	UTSW	3	87,652,569 (GRCm39)	missense	probably benign	0.01
R4231:Lrrc71	UTSW	3	87,648,298 (GRCm39)	missense	probably benign	0.01
R4431:Lrrc71	UTSW	3	87,650,143 (GRCm39)	missense	possibly damaging	0.59
R4477:Lrrc71	UTSW	3	87,649,972 (GRCm39)	missense	probably damaging	0.99
R4562:Lrrc71	UTSW	3	87,652,715 (GRCm39)	unclassified	probably benign
R4564:Lrrc71	UTSW	3	87,652,715 (GRCm39)	unclassified	probably benign
R4724:Lrrc71	UTSW	3	87,646,481 (GRCm39)	missense	probably damaging	0.97
R4826:Lrrc71	UTSW	3	87,650,615 (GRCm39)	missense	probably benign	0.33
R5156:Lrrc71	UTSW	3	87,653,094 (GRCm39)	missense	probably benign	0.07
R5631:Lrrc71	UTSW	3	87,646,456 (GRCm39)	missense	probably benign	0.00
R6182:Lrrc71	UTSW	3	87,653,101 (GRCm39)	missense	probably benign	0.41
R6558:Lrrc71	UTSW	3	87,649,950 (GRCm39)	missense	probably benign	0.25
R6885:Lrrc71	UTSW	3	87,649,927 (GRCm39)	splice site	probably null
R7036:Lrrc71	UTSW	3	87,655,693 (GRCm39)	missense	probably benign	0.00
R7199:Lrrc71	UTSW	3	87,650,384 (GRCm39)	missense	probably damaging	1.00
R7211:Lrrc71	UTSW	3	87,650,633 (GRCm39)	missense	possibly damaging	0.92
R7634:Lrrc71	UTSW	3	87,650,281 (GRCm39)	missense	probably damaging	1.00
R7638:Lrrc71	UTSW	3	87,649,113 (GRCm39)	missense	probably damaging	1.00
R7695:Lrrc71	UTSW	3	87,646,769 (GRCm39)	missense	probably damaging	1.00
R8971:Lrrc71	UTSW	3	87,647,153 (GRCm39)	missense	possibly damaging	0.78
R9041:Lrrc71	UTSW	3	87,650,660 (GRCm39)	missense	probably damaging	0.97
R9427:Lrrc71	UTSW	3	87,650,368 (GRCm39)	missense	probably benign
R9583:Lrrc71	UTSW	3	87,650,258 (GRCm39)	missense	possibly damaging	0.78
Z1177:Lrrc71	UTSW	3	87,650,128 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AACTGACCTGAGTGTGGAGG -3'
(R):5'- ACTCATTACGCCAGCGCATC -3'

Sequencing Primer
(F):5'- TGACCTGAGTGTGGAGGAACAAAG -3'
(R):5'- TCACGGGCTCACAATTCATG -3'

Posted On

2015-09-24