Mutagenetix > Incidental Mutations

Incidental Mutation 'R3749:Lrp10'

310112

Institutional Source

Beutler Lab

Gene Symbol

Lrp10

Ensembl Gene

ENSMUSG00000022175

Gene Name

low-density lipoprotein receptor-related protein 10

Synonyms

Lrp9

MMRRC Submission

040734-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3749 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54464137-54471497 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 54469266 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 520 (N520I)

Ref Sequence

ENSEMBL: ENSMUSP00000022782 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022782] [ENSMUST00000227760]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022782
AA Change: N520I

PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000022782
Gene: ENSMUSG00000022175
AA Change: N520I

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
CUB	29	137	5.33e-2	SMART
LDLa	140	177	5.26e-13	SMART
CUB	193	306	2.57e-4	SMART
LDLa	308	356	1.05e-3	SMART
LDLa	357	399	4.89e-2	SMART
LDLa	400	436	1.63e-9	SMART
transmembrane domain	442	464	N/A	INTRINSIC
low complexity region	544	569	N/A	INTRINSIC
low complexity region	614	629	N/A	INTRINSIC
low complexity region	634	655	N/A	INTRINSIC
low complexity region	672	681	N/A	INTRINSIC
low complexity region	685	710	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226346

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226472

Predicted Effect

probably benign
Transcript: ENSMUST00000227760

Predicted Effect

unknown
Transcript: ENSMUST00000228407
AA Change: T114S

Meta Mutation Damage Score

0.3391

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

98% (50/51)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a low density lipoprotein receptor family protein. A similar protein in mouse is thought to play a role in the uptake of apolipoprotein E-containing lipoproteins. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam12	T	C	7: 134,172,865	D5G	probably damaging	Het
Adam19	A	T	11: 46,137,610	D690V	probably benign	Het
Ankib1	G	T	5: 3,734,097	P293Q	probably damaging	Het
Arhgap19	T	A	19: 41,774,079	E461V	probably damaging	Het
Bckdk	C	A	7: 127,905,418	R105S	probably damaging	Het
Bub1b	T	A	2: 118,615,455	N319K	possibly damaging	Het
Ccdc40	T	C	11: 119,264,426	V1164A	probably benign	Het
Cfhr1	C	A	1: 139,557,634		probably null	Het
Colq	A	T	14: 31,549,453		probably benign	Het
Daam1	C	A	12: 71,971,166	D716E	probably damaging	Het
Dnah17	T	C	11: 118,082,916	S1935G	probably benign	Het
Dnah8	A	T	17: 30,784,174	K3616*	probably null	Het
Faap24	A	T	7: 35,393,012	V160D	possibly damaging	Het
Gpc1	C	A	1: 92,857,582	C414*	probably null	Het
Igkv9-120	G	A	6: 68,050,001	A7T	probably benign	Het
Kcnu1	T	A	8: 25,886,770	C391S	probably null	Het
Lrba	T	G	3: 86,375,953	L1858R	probably damaging	Het
March6	A	G	15: 31,462,014	V856A	probably benign	Het
Mfsd1	T	C	3: 67,582,953	S46P	probably benign	Het
Mme	T	A	3: 63,343,540	V334E	probably damaging	Het
Mroh2b	G	A	15: 4,952,246	W1513*	probably null	Het
Nuf2	T	A	1: 169,525,376	N20I	probably damaging	Het
Obsl1	T	C	1: 75,498,246	T642A	probably benign	Het
Olfm1	C	T	2: 28,208,088	T54I	probably damaging	Het
Olfr803	C	T	10: 129,691,961	V27I	probably benign	Het
Olfr95	G	A	17: 37,211,800	R18C	possibly damaging	Het
Osbpl7	T	C	11: 97,056,053	V223A	probably damaging	Het
Patj	A	G	4: 98,469,600	Y701C	probably damaging	Het
Pkdrej	T	A	15: 85,821,077	K219N	probably damaging	Het
Scn2a	T	G	2: 65,713,771	V832G	probably damaging	Het
Secisbp2l	C	T	2: 125,740,737	G933D	possibly damaging	Het
Slc25a25	G	T	2: 32,420,380	N122K	probably benign	Het
Slk	T	G	19: 47,619,809	D400E	possibly damaging	Het
Spon1	T	C	7: 113,766,384	L19P	probably damaging	Het
Spon1	T	A	7: 114,016,791	V297E	possibly damaging	Het
Supt16	A	G	14: 52,180,139	L306P	probably damaging	Het
Syne1	C	T	10: 5,052,267		probably benign	Het
Tas2r136	A	T	6: 132,777,237	F309Y	probably damaging	Het
Terb1	T	C	8: 104,496,834	D114G	probably damaging	Het
Tlr5	T	C	1: 182,974,439	I436T	probably benign	Het
Tpcn2	T	C	7: 145,255,523	H682R	probably damaging	Het
Tpi1	T	A	6: 124,812,791	S130C	probably damaging	Het
Ttn	G	A	2: 76,754,006	H22253Y	probably damaging	Het
Uggt2	A	T	14: 119,057,672	V38E	probably benign	Het
Vmn1r158	A	C	7: 22,790,214	L190W	probably damaging	Het
Vwa5b2	A	G	16: 20,598,326		probably benign	Het
Wnt2	T	C	6: 18,023,168	I161V	probably benign	Het
Zdhhc25	C	T	15: 88,601,023	S187L	probably benign	Het
Zfhx4	G	A	3: 5,243,165	E484K	possibly damaging	Het
Zkscan1	T	C	5: 138,101,441	S476P	probably damaging	Het
Zmynd8	A	G	2: 165,805,198	Y945H	probably damaging	Het

Other mutations in Lrp10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01951:Lrp10	APN	14	54468662	nonsense	probably null
IGL02641:Lrp10	APN	14	54468611	nonsense	probably null
IGL02697:Lrp10	APN	14	54469697	missense	probably damaging	1.00
IGL02974:Lrp10	APN	14	54467884	nonsense	probably null
IGL03030:Lrp10	APN	14	54469162	missense	possibly damaging	0.69
chowmein	UTSW	14	54468090	missense	probably damaging	1.00
egg_fu_young	UTSW	14	54469266	missense	possibly damaging	0.66
R0452:Lrp10	UTSW	14	54467579	missense	probably benign	0.08
R0765:Lrp10	UTSW	14	54468090	missense	probably damaging	1.00
R1700:Lrp10	UTSW	14	54469752	missense	possibly damaging	0.94
R1726:Lrp10	UTSW	14	54469656	missense	probably damaging	0.99
R2943:Lrp10	UTSW	14	54469845	unclassified	probably benign
R3746:Lrp10	UTSW	14	54469266	missense	possibly damaging	0.66
R4356:Lrp10	UTSW	14	54468366	missense	probably damaging	0.98
R4357:Lrp10	UTSW	14	54468366	missense	probably damaging	0.98
R4358:Lrp10	UTSW	14	54468366	missense	probably damaging	0.98
R4379:Lrp10	UTSW	14	54468366	missense	probably damaging	0.98
R4380:Lrp10	UTSW	14	54468366	missense	probably damaging	0.98
R4751:Lrp10	UTSW	14	54468592	missense	probably damaging	1.00
R5055:Lrp10	UTSW	14	54468345	missense	probably benign	0.00
R5133:Lrp10	UTSW	14	54469610	missense	probably benign
R6633:Lrp10	UTSW	14	54469074	missense	probably benign	0.03
R6845:Lrp10	UTSW	14	54469688	missense	probably damaging	1.00
R6874:Lrp10	UTSW	14	54468213	missense	possibly damaging	0.50
R6958:Lrp10	UTSW	14	54469821	unclassified	probably benign
R6989:Lrp10	UTSW	14	54468493	missense	probably benign	0.30
R7162:Lrp10	UTSW	14	54465706	missense	possibly damaging	0.60
R7453:Lrp10	UTSW	14	54468456	missense	probably damaging	1.00
R7600:Lrp10	UTSW	14	54469395	missense	possibly damaging	0.93
X0026:Lrp10	UTSW	14	54469399	nonsense	probably null
X0027:Lrp10	UTSW	14	54468535	missense	probably damaging	1.00
Z1088:Lrp10	UTSW	14	54467922	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TAACTTATGTCTAAGTGGCCCTC -3'
(R):5'- CCGAGCTGGGGTATTAGTTC -3'

Sequencing Primer
(F):5'- GCTGAGATTGTGCAGCAAC -3'
(R):5'- TATTAGTTCGAGGAAGCAGGCCC -3'

Posted On

2015-04-17