Mutagenetix > Incidental Mutation

Incidental Mutation 'R6502:Lrp3'

519791

Institutional Source

Beutler Lab

Gene Symbol

Lrp3

Ensembl Gene

ENSMUSG00000001802

Gene Name

low density lipoprotein receptor-related protein 3

Synonyms

MMRRC Submission

044634-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R6502 (G1)

Quality Score

202.009

Status

Not validated

Chromosome

Chromosomal Location

34900303-34914791 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 34903413 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 311 (D311A)

Ref Sequence

ENSEMBL: ENSMUSP00000114026 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001854] [ENSMUST00000118444] [ENSMUST00000122409] [ENSMUST00000131048]

AlphaFold

E9Q1T6

Predicted Effect

probably benign
Transcript: ENSMUST00000001854

SMART Domains

Protein: ENSMUSP00000001854
Gene: ENSMUSG00000030495

Domain	Start	End	E-Value	Type
low complexity region	14	37	N/A	INTRINSIC
Pfam:AA_permease_2	46	474	4.8e-65	PFAM
Pfam:AA_permease	51	467	9.3e-37	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118444
AA Change: D290A

PolyPhen 2 Score 0.467 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000113406
Gene: ENSMUSG00000001802
AA Change: D290A

Domain	Start	End	E-Value	Type
signal peptide	1	35	N/A	INTRINSIC
CUB	43	159	9.97e-20	SMART
LDLa	165	202	7.21e-11	SMART
LDLa	211	251	1.37e-11	SMART
CUB	254	365	1.98e-3	SMART
LDLa	367	414	1.85e-1	SMART
LDLa	415	453	4.44e-3	SMART
LDLa	454	490	8.74e-10	SMART
transmembrane domain	497	519	N/A	INTRINSIC
low complexity region	584	606	N/A	INTRINSIC
low complexity region	641	652	N/A	INTRINSIC
low complexity region	674	684	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000122409
AA Change: D311A

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000114026
Gene: ENSMUSG00000001802
AA Change: D311A

Domain	Start	End	E-Value	Type
signal peptide	1	35	N/A	INTRINSIC
CUB	64	180	9.97e-20	SMART
LDLa	186	223	7.21e-11	SMART
LDLa	232	272	1.37e-11	SMART
CUB	275	386	1.98e-3	SMART
LDLa	388	435	1.85e-1	SMART
LDLa	436	474	4.44e-3	SMART
LDLa	475	511	8.74e-10	SMART
transmembrane domain	518	540	N/A	INTRINSIC
low complexity region	605	627	N/A	INTRINSIC
low complexity region	662	673	N/A	INTRINSIC
low complexity region	695	705	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000131048

SMART Domains

Protein: ENSMUSP00000118331
Gene: ENSMUSG00000030495

Domain	Start	End	E-Value	Type
low complexity region	14	37	N/A	INTRINSIC
Pfam:AA_permease_2	46	346	8.6e-48	PFAM
Pfam:AA_permease	51	346	1e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000146959

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153163

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155404

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	A	T	6: 124,333,908 (GRCm39)	I24K	probably benign	Het
Adamts9	A	T	6: 92,849,316 (GRCm39)	C467S	probably damaging	Het
Adcy7	G	A	8: 89,052,107 (GRCm39)	R925Q	probably damaging	Het
Akap6	G	A	12: 53,186,998 (GRCm39)	G1471S	probably damaging	Het
Ap2b1	T	C	11: 83,233,505 (GRCm39)	V506A	probably damaging	Het
Apob	A	G	12: 8,051,814 (GRCm39)	I1113M	probably damaging	Het
Arsg	A	T	11: 109,408,162 (GRCm39)	N105Y	probably damaging	Het
Blm	T	A	7: 80,131,223 (GRCm39)	Y872F	probably damaging	Het
Btaf1	A	T	19: 36,961,017 (GRCm39)	N797Y	probably benign	Het
Camsap1	T	C	2: 25,846,320 (GRCm39)	E201G	probably damaging	Het
Ccdc122	T	A	14: 77,279,509 (GRCm39)		probably null	Homo
Ccdc141	A	G	2: 77,000,745 (GRCm39)	V29A	probably damaging	Het
Cd244a	T	A	1: 171,405,447 (GRCm39)	D277E	probably benign	Het
Cfap157	T	C	2: 32,670,690 (GRCm39)	Y186C	probably damaging	Het
Ciita	C	T	16: 10,329,774 (GRCm39)	A686V	probably damaging	Het
Clptm1l	T	C	13: 73,765,884 (GRCm39)		probably null	Het
Col16a1	C	T	4: 129,949,787 (GRCm39)	P50L	probably damaging	Het
Crisp3	A	T	17: 40,546,804 (GRCm39)	V38D	probably damaging	Het
Cyfip2	T	C	11: 46,112,173 (GRCm39)	E1010G	probably damaging	Het
Dvl3	G	A	16: 20,346,133 (GRCm39)	E488K	probably damaging	Het
Eed	C	A	7: 89,626,237 (GRCm39)	E45D	probably benign	Het
Eln	A	G	5: 134,754,628 (GRCm39)		probably benign	Het
Fah	T	A	7: 84,244,043 (GRCm39)	I239F	probably damaging	Het
Fbxw5	T	A	2: 25,392,448 (GRCm39)	Y77N	possibly damaging	Het
Garnl3	T	C	2: 32,896,833 (GRCm39)	E602G	possibly damaging	Het
Gkn3	A	T	6: 87,365,786 (GRCm39)	M11K	probably benign	Het
Glt1d1	A	G	5: 127,784,045 (GRCm39)	Y333C	probably damaging	Het
Gm10762	A	T	2: 128,809,090 (GRCm39)	Y86*	probably null	Het
Gm14496	A	G	2: 181,642,386 (GRCm39)	M686V	probably benign	Het
Gse1	T	A	8: 121,280,428 (GRCm39)		probably null	Het
Herc4	C	A	10: 63,153,197 (GRCm39)	T1035K	probably benign	Het
Hmcn2	T	A	2: 31,272,490 (GRCm39)	N1323K	probably damaging	Het
Hnrnpd	T	A	5: 100,114,025 (GRCm39)	E3D	probably damaging	Het
Htr7	T	A	19: 35,947,010 (GRCm39)	I335F	probably damaging	Het
Ift70b	T	A	2: 75,767,448 (GRCm39)	N435I	possibly damaging	Het
Itgae	A	T	11: 73,036,418 (GRCm39)	I1119F	probably benign	Het
Lcn11	T	C	2: 25,669,103 (GRCm39)	F137S	probably benign	Het
Lrrc1	G	T	9: 77,349,473 (GRCm39)	D364E	probably damaging	Het
Lrrc37a	T	A	11: 103,383,005 (GRCm39)	E2456V	unknown	Het
Lrriq1	T	C	10: 103,063,045 (GRCm39)	Y87C	probably damaging	Het
Mcc	A	T	18: 44,601,457 (GRCm39)	L449*	probably null	Het
Mcc	A	T	18: 44,601,458 (GRCm39)	L624M	probably damaging	Het
Mcm9	T	C	10: 53,488,935 (GRCm39)	T496A	probably damaging	Het
Myef2	T	A	2: 124,958,602 (GRCm39)	D109V	probably damaging	Het
Myom3	C	T	4: 135,489,824 (GRCm39)		probably benign	Het
Nanos1	G	T	19: 60,744,977 (GRCm39)	G92W	possibly damaging	Het
Ncor1	T	A	11: 62,272,240 (GRCm39)	K84*	probably null	Het
Neb	T	A	2: 52,181,094 (GRCm39)	D1171V	probably benign	Het
Notch3	A	G	17: 32,377,191 (GRCm39)	W267R	probably damaging	Het
Or5d39	A	T	2: 87,980,360 (GRCm39)	M1K	probably null	Het
Or8d1	A	C	9: 38,766,933 (GRCm39)	T192P	probably damaging	Het
Per2	A	G	1: 91,355,485 (GRCm39)	S758P	probably benign	Het
Pi4k2a	A	G	19: 42,079,371 (GRCm39)	Q144R	probably benign	Het
Pirb	A	T	7: 3,720,392 (GRCm39)	V327E	probably benign	Het
Pla2g4a	C	T	1: 149,748,367 (GRCm39)	W272*	probably null	Het
Plekha4	T	A	7: 45,180,000 (GRCm39)	M1K	probably null	Het
Ppt2	A	G	17: 34,844,894 (GRCm39)	C117R	probably damaging	Het
Prph	A	T	15: 98,954,267 (GRCm39)	I222F	probably damaging	Het
Rbm43	T	C	2: 51,815,588 (GRCm39)	D211G	probably damaging	Het
Rims2	A	G	15: 39,398,251 (GRCm39)	D1072G	probably benign	Het
Rnf123	G	T	9: 107,945,531 (GRCm39)	Q380K	possibly damaging	Het
Rnf145	T	C	11: 44,415,932 (GRCm39)	F49S	probably damaging	Het
Sall4	A	G	2: 168,597,628 (GRCm39)	I404T	probably damaging	Het
Slc25a39	G	A	11: 102,295,286 (GRCm39)	P228L	probably damaging	Het
Tbc1d14	T	C	5: 36,677,825 (GRCm39)	T377A	possibly damaging	Het
Tbc1d17	A	G	7: 44,491,049 (GRCm39)	I555T	probably benign	Het
Tmem131l	A	T	3: 83,829,715 (GRCm39)	S980T	probably damaging	Het
Tmem14a	G	T	1: 21,299,662 (GRCm39)	L97F	possibly damaging	Het
Tmem98	T	C	11: 80,703,461 (GRCm39)	V26A	probably benign	Het
Tmppe	G	T	9: 114,234,720 (GRCm39)	G340W	probably damaging	Het
Tsc1	T	C	2: 28,555,613 (GRCm39)	S237P	probably damaging	Het
Ubr4	C	T	4: 139,171,982 (GRCm39)	R2992W	probably damaging	Het
Ugt2a2	A	G	5: 87,608,318 (GRCm39)	V673A	possibly damaging	Het
Vmn2r19	T	C	6: 123,293,067 (GRCm39)	Y370H	possibly damaging	Het
Vmn2r20	A	G	6: 123,373,342 (GRCm39)	F500S	possibly damaging	Het
Zc3h7b	A	G	15: 81,653,252 (GRCm39)	Y47C	probably benign	Het
Zdhhc13	A	G	7: 48,465,308 (GRCm39)	E406G	possibly damaging	Het
Zfp418	T	C	7: 7,185,599 (GRCm39)	S521P	possibly damaging	Het

Other mutations in Lrp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00656:Lrp3	APN	7	34,905,453 (GRCm39)	splice site	probably benign
IGL01714:Lrp3	APN	7	34,905,496 (GRCm39)	splice site	probably null
IGL03033:Lrp3	APN	7	34,902,052 (GRCm39)	missense	possibly damaging	0.61
IGL03166:Lrp3	APN	7	34,901,905 (GRCm39)	missense	probably benign	0.00
Blackball	UTSW	7	34,905,477 (GRCm39)	missense	probably damaging	1.00
lowball	UTSW	7	34,903,593 (GRCm39)	missense	probably benign	0.00
PIT4434001:Lrp3	UTSW	7	34,903,420 (GRCm39)	missense	probably damaging	0.99
R0416:Lrp3	UTSW	7	34,901,778 (GRCm39)	missense	probably benign
R0733:Lrp3	UTSW	7	34,901,545 (GRCm39)	missense	possibly damaging	0.93
R0907:Lrp3	UTSW	7	34,902,718 (GRCm39)	missense	probably damaging	0.99
R1437:Lrp3	UTSW	7	34,912,595 (GRCm39)	missense	probably damaging	1.00
R1591:Lrp3	UTSW	7	34,901,790 (GRCm39)	missense	probably benign	0.03
R1625:Lrp3	UTSW	7	34,903,350 (GRCm39)	missense	probably damaging	1.00
R1703:Lrp3	UTSW	7	34,912,586 (GRCm39)	missense	possibly damaging	0.95
R3976:Lrp3	UTSW	7	34,903,530 (GRCm39)	missense	probably benign	0.06
R4196:Lrp3	UTSW	7	34,902,835 (GRCm39)	missense	probably damaging	1.00
R4679:Lrp3	UTSW	7	34,903,365 (GRCm39)	missense	probably damaging	1.00
R5686:Lrp3	UTSW	7	34,902,910 (GRCm39)	missense	possibly damaging	0.84
R5836:Lrp3	UTSW	7	34,902,747 (GRCm39)	missense	probably damaging	1.00
R6160:Lrp3	UTSW	7	34,903,548 (GRCm39)	missense	possibly damaging	0.79
R6342:Lrp3	UTSW	7	34,901,731 (GRCm39)	missense	probably benign	0.01
R6364:Lrp3	UTSW	7	34,903,134 (GRCm39)	missense	probably benign	0.03
R6415:Lrp3	UTSW	7	34,903,593 (GRCm39)	missense	probably benign	0.00
R6747:Lrp3	UTSW	7	34,910,862 (GRCm39)	missense	probably benign
R7205:Lrp3	UTSW	7	34,902,051 (GRCm39)	missense	probably damaging	0.99
R7232:Lrp3	UTSW	7	34,905,477 (GRCm39)	missense	probably damaging	1.00
R7522:Lrp3	UTSW	7	34,903,755 (GRCm39)	missense	probably damaging	0.99
R7870:Lrp3	UTSW	7	34,910,922 (GRCm39)	missense	probably damaging	0.99
R7963:Lrp3	UTSW	7	34,902,404 (GRCm39)	nonsense	probably null
R9094:Lrp3	UTSW	7	34,903,182 (GRCm39)	missense	probably damaging	1.00
R9242:Lrp3	UTSW	7	34,901,934 (GRCm39)	missense	probably benign	0.01
R9474:Lrp3	UTSW	7	34,903,489 (GRCm39)	missense	probably damaging	1.00
Z1177:Lrp3	UTSW	7	34,902,437 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TAGCCCTTCACCTGGTATGTGG -3'
(R):5'- GGATGAGGGTAACTGCTCAG -3'

Sequencing Primer
(F):5'- TTGAAGCCGTGACCAGCAC -3'
(R):5'- AGGGTAACTGCTCAGCACCTG -3'

Posted On

2018-06-06