Mutagenetix > Incidental Mutation

Incidental Mutation 'R4562:Lrrc71'

343124

Institutional Source

Beutler Lab

Gene Symbol

Lrrc71

Ensembl Gene

ENSMUSG00000023084

Gene Name

leucine rich repeat containing 71

Synonyms

4933430H15Rik

MMRRC Submission

041787-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4562 (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: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	G	A	3: 36,120,331 (GRCm39)	R25K	probably benign	Het
Acap1	C	T	11: 69,776,177 (GRCm39)		probably benign	Het
Aox1	T	C	1: 58,098,215 (GRCm39)	L309P	probably damaging	Het
Asap2	A	G	12: 21,162,094 (GRCm39)	D17G	probably damaging	Het
Atp8b1	A	T	18: 64,689,962 (GRCm39)	V590D	probably damaging	Het
Bace2	G	A	16: 97,223,180 (GRCm39)	R368Q	probably damaging	Het
Cad	G	A	5: 31,215,477 (GRCm39)	S96N	possibly damaging	Het
Csmd3	T	C	15: 47,763,240 (GRCm39)	T1303A	probably benign	Het
Defa24	A	G	8: 22,224,523 (GRCm39)		probably benign	Het
Dffb	A	G	4: 154,049,913 (GRCm39)	C317R	probably damaging	Het
Erap1	T	C	13: 74,821,778 (GRCm39)	V711A	probably benign	Het
Esco1	A	G	18: 10,595,074 (GRCm39)	S71P	possibly damaging	Het
Evpl	G	A	11: 116,124,225 (GRCm39)	T198M	possibly damaging	Het
Gm10797	A	G	10: 67,408,515 (GRCm39)		noncoding transcript	Het
Gm10822	C	T	2: 73,729,833 (GRCm39)		noncoding transcript	Het
Huwe1	A	T	X: 150,646,955 (GRCm39)	I682F	probably damaging	Het
Ift22	A	G	5: 136,941,724 (GRCm39)	E152G	probably benign	Het
Ighv3-5	T	A	12: 114,226,498 (GRCm39)	T25S	possibly damaging	Het
Ivl	CCTGCTGCTGCT	CCTGCTGCTGCTGCT	3: 92,479,262 (GRCm39)		probably benign	Het
Kcna5	T	C	6: 126,511,303 (GRCm39)	H275R	probably benign	Het
Kdm7a	C	T	6: 39,129,757 (GRCm39)	R473Q	probably damaging	Het
Klf14	G	A	6: 30,935,394 (GRCm39)	A80V	probably damaging	Het
Lypd8	T	A	11: 58,273,215 (GRCm39)		probably null	Het
Mef2b	G	A	8: 70,619,918 (GRCm39)	D345N	probably damaging	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Mtmr10	C	T	7: 63,963,907 (GRCm39)	T214M	possibly damaging	Het
Or10g9b	A	G	9: 39,917,577 (GRCm39)	S223P	probably damaging	Het
Or13g1	A	G	7: 85,956,360 (GRCm39)		probably benign	Het
Or4f4b	A	T	2: 111,313,909 (GRCm39)	M45L	probably benign	Het
Orc1	T	C	4: 108,459,252 (GRCm39)		probably null	Het
P4htm	T	C	9: 108,459,195 (GRCm39)	S246G	probably null	Het
Pax2	A	G	19: 44,824,402 (GRCm39)	Y374C	unknown	Het
Pde6b	A	G	5: 108,551,234 (GRCm39)	K173E	probably benign	Het
Pde8a	T	A	7: 80,958,568 (GRCm39)	Y315*	probably null	Het
Plekhh2	A	G	17: 84,873,525 (GRCm39)	D270G	probably benign	Het
Prr5	A	C	15: 84,626,114 (GRCm39)	D63A	probably damaging	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Ryr1	C	A	7: 28,774,005 (GRCm39)		probably benign	Het
Slc4a1ap	G	A	5: 31,689,373 (GRCm39)	V347M	probably damaging	Het
Tasor	A	G	14: 27,188,265 (GRCm39)	T904A	possibly damaging	Het
Tln1	C	A	4: 43,533,598 (GRCm39)	A2319S	probably damaging	Het
Tm6sf1	G	A	7: 81,509,209 (GRCm39)	A5T	probably damaging	Het
Tmem117	A	T	15: 94,992,677 (GRCm39)	M446L	probably benign	Het
Tnfrsf22	C	T	7: 143,203,313 (GRCm39)	R19Q	unknown	Het
Tnfsf11	T	C	14: 78,516,020 (GRCm39)	D316G	probably damaging	Het
Trerf1	G	A	17: 47,637,997 (GRCm39)		noncoding transcript	Het
Ttc13	A	G	8: 125,402,016 (GRCm39)	L657P	probably damaging	Het
Unc79	C	T	12: 102,957,720 (GRCm39)	T45I	probably damaging	Het
Usp3	G	T	9: 66,428,047 (GRCm39)		probably benign	Het
Vmn2r-ps158	C	T	7: 42,672,986 (GRCm39)	Q130*	probably null	Het
Wdr31	A	C	4: 62,372,159 (GRCm39)	L319W	probably damaging	Het
Zfp947	G	T	17: 22,365,124 (GRCm39)	Y183*	probably null	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
R4563: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'- ACAACTGACCTGAGTGTGGAG -3'
(R):5'- ACTCATTACGCCAGCGCATC -3'

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

Posted On

2015-09-24