Mutagenetix > Incidental Mutation

Incidental Mutation 'R1726:Lrp10'

198171

Institutional Source

Beutler Lab

Gene Symbol

Lrp10

Ensembl Gene

ENSMUSG00000022175

Gene Name

low-density lipoprotein receptor-related protein 10

Synonyms

Lrp9

MMRRC Submission

039758-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1726 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54701260-54707749 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54707113 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 650 (L650P)

Ref Sequence

ENSEMBL: ENSMUSP00000022782 (fasta)

Gene Model

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

AlphaFold

Q7TQH7

Predicted Effect

probably damaging
Transcript: ENSMUST00000022782
AA Change: L650P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000022782
Gene: ENSMUSG00000022175
AA Change: L650P

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

probably benign
Transcript: ENSMUST00000228407

Meta Mutation Damage Score

0.0645

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.6%

Validation Efficiency

97% (63/65)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	G	C	12: 118,838,536 (GRCm39)		probably null	Het
Abcb5	A	T	12: 118,871,267 (GRCm39)	S711T	possibly damaging	Het
Acoxl	G	A	2: 127,722,366 (GRCm39)	G216R	probably damaging	Het
Arhgef18	A	T	8: 3,504,228 (GRCm39)	N949I	possibly damaging	Het
Bltp3a	C	A	17: 28,105,225 (GRCm39)		probably null	Het
Brip1	A	T	11: 85,955,740 (GRCm39)	S924R	probably benign	Het
Btf3	C	T	13: 98,452,804 (GRCm39)	M1I	probably null	Het
Ccdc141	A	G	2: 76,938,700 (GRCm39)		probably benign	Het
Ccdc80	A	T	16: 44,916,368 (GRCm39)	T375S	probably benign	Het
Ccl11	A	G	11: 81,952,546 (GRCm39)	K40E	possibly damaging	Het
Chrnb2	A	T	3: 89,668,509 (GRCm39)	C269S	probably damaging	Het
Dgat2	A	G	7: 98,831,623 (GRCm39)	S33P	possibly damaging	Het
Dip2c	A	G	13: 9,625,464 (GRCm39)	D608G	probably damaging	Het
Dnah2	A	T	11: 69,388,715 (GRCm39)	D889E	probably damaging	Het
Dvl2	A	T	11: 69,900,287 (GRCm39)	T694S	probably benign	Het
Elapor1	A	G	3: 108,375,184 (GRCm39)	I561T	possibly damaging	Het
Fbf1	A	G	11: 116,036,280 (GRCm39)	V1100A	probably benign	Het
Galt	G	A	4: 41,756,001 (GRCm39)	W22*	probably null	Het
Garem1	C	A	18: 21,281,319 (GRCm39)	V346L	probably damaging	Het
Gm10277	TC	T	11: 77,676,828 (GRCm39)		probably null	Het
Gm10762	A	T	2: 128,809,135 (GRCm39)		probably benign	Het
Gm21900	A	G	Y: 10,616,358 (GRCm39)		probably null	Het
Gm2663	T	C	6: 40,974,960 (GRCm39)	Y37C	probably damaging	Het
Gm42791	C	A	5: 148,896,311 (GRCm39)		probably benign	Het
Gm5134	C	A	10: 75,828,361 (GRCm39)	P314T	possibly damaging	Het
Gtf3c2	T	C	5: 31,326,467 (GRCm39)	E348G	possibly damaging	Het
H2-T24	T	A	17: 36,326,513 (GRCm39)	M129L	probably benign	Het
Ikzf2	C	A	1: 69,587,847 (GRCm39)	R214L	probably damaging	Het
Insyn2a	T	C	7: 134,500,867 (GRCm39)		probably benign	Het
Itpr3	T	A	17: 27,330,664 (GRCm39)	L1691Q	probably damaging	Het
Kmt2c	C	T	5: 25,520,003 (GRCm39)	G2036R	probably damaging	Het
Mcm9	G	A	10: 53,413,977 (GRCm39)	P368S	possibly damaging	Het
Mob3b	A	G	4: 34,954,028 (GRCm39)	M214T	probably benign	Het
Mrpl1	T	C	5: 96,371,686 (GRCm39)	V71A	probably benign	Het
Mrpl57	A	G	14: 58,064,092 (GRCm39)	E40G	probably damaging	Het
Mtmr9	A	G	14: 63,774,547 (GRCm39)	V162A	possibly damaging	Het
Nalcn	A	T	14: 123,545,816 (GRCm39)	V1065E	probably damaging	Het
Nemp2	A	G	1: 52,676,554 (GRCm39)	D42G	probably damaging	Het
Npepps	A	G	11: 97,115,495 (GRCm39)	L623P	probably damaging	Het
Olig3	A	G	10: 19,232,482 (GRCm39)	S36G	probably benign	Het
Or10j5	A	G	1: 172,784,658 (GRCm39)	T99A	probably benign	Het
Or11g26	T	A	14: 50,753,636 (GRCm39)		probably null	Het
Or5e1	T	C	7: 108,354,215 (GRCm39)	S51P	probably benign	Het
Pcdhb14	T	A	18: 37,582,647 (GRCm39)	Y584*	probably null	Het
Pcyox1l	T	C	18: 61,830,849 (GRCm39)	Y341C	probably benign	Het
Pdxdc1	A	C	16: 13,656,164 (GRCm39)		probably null	Het
Pias4	A	C	10: 80,991,689 (GRCm39)	V313G	probably damaging	Het
Pkd1	C	T	17: 24,783,150 (GRCm39)	T81M	probably damaging	Het
Ptprm	T	C	17: 67,349,322 (GRCm39)	I40M	probably damaging	Het
Reep6	T	C	10: 80,170,954 (GRCm39)	S277P	probably benign	Het
Shank3	A	G	15: 89,442,189 (GRCm39)	E1694G	probably damaging	Het
Shq1	T	C	6: 100,613,996 (GRCm39)	Y274C	probably benign	Het
Slc12a6	T	A	2: 112,177,771 (GRCm39)	I630N	probably damaging	Het
Slc14a1	T	A	18: 78,159,681 (GRCm39)	N15Y	probably benign	Het
Slc17a4	A	T	13: 24,089,574 (GRCm39)	Y114*	probably null	Het
Slc26a1	C	T	5: 108,821,541 (GRCm39)	G116D	probably damaging	Het
Smg8	G	T	11: 86,971,439 (GRCm39)	Y777*	probably null	Het
Tlr11	A	T	14: 50,598,998 (GRCm39)	H328L	probably benign	Het
Ube2c	G	T	2: 164,613,237 (GRCm39)	A52S	probably damaging	Het
Unc5c	A	G	3: 141,523,864 (GRCm39)	S806G	probably damaging	Het
Zfp874b	A	T	13: 67,622,839 (GRCm39)	I153K	probably damaging	Het
Zkscan2	T	A	7: 123,089,046 (GRCm39)	E408D	probably damaging	Het

Other mutations in Lrp10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01951:Lrp10	APN	14	54,706,119 (GRCm39)	nonsense	probably null
IGL02641:Lrp10	APN	14	54,706,068 (GRCm39)	nonsense	probably null
IGL02697:Lrp10	APN	14	54,707,154 (GRCm39)	missense	probably damaging	1.00
IGL02974:Lrp10	APN	14	54,705,341 (GRCm39)	nonsense	probably null
IGL03030:Lrp10	APN	14	54,706,619 (GRCm39)	missense	possibly damaging	0.69
chowmein	UTSW	14	54,705,547 (GRCm39)	missense	probably damaging	1.00
egg_fu_young	UTSW	14	54,706,723 (GRCm39)	missense	possibly damaging	0.66
R0452:Lrp10	UTSW	14	54,705,036 (GRCm39)	missense	probably benign	0.08
R0765:Lrp10	UTSW	14	54,705,547 (GRCm39)	missense	probably damaging	1.00
R1700:Lrp10	UTSW	14	54,707,209 (GRCm39)	missense	possibly damaging	0.94
R2943:Lrp10	UTSW	14	54,707,302 (GRCm39)	unclassified	probably benign
R3746:Lrp10	UTSW	14	54,706,723 (GRCm39)	missense	possibly damaging	0.66
R3749:Lrp10	UTSW	14	54,706,723 (GRCm39)	missense	possibly damaging	0.66
R4356:Lrp10	UTSW	14	54,705,823 (GRCm39)	missense	probably damaging	0.98
R4357:Lrp10	UTSW	14	54,705,823 (GRCm39)	missense	probably damaging	0.98
R4358:Lrp10	UTSW	14	54,705,823 (GRCm39)	missense	probably damaging	0.98
R4379:Lrp10	UTSW	14	54,705,823 (GRCm39)	missense	probably damaging	0.98
R4380:Lrp10	UTSW	14	54,705,823 (GRCm39)	missense	probably damaging	0.98
R4751:Lrp10	UTSW	14	54,706,049 (GRCm39)	missense	probably damaging	1.00
R5055:Lrp10	UTSW	14	54,705,802 (GRCm39)	missense	probably benign	0.00
R5133:Lrp10	UTSW	14	54,707,067 (GRCm39)	missense	probably benign
R6633:Lrp10	UTSW	14	54,706,531 (GRCm39)	missense	probably benign	0.03
R6845:Lrp10	UTSW	14	54,707,145 (GRCm39)	missense	probably damaging	1.00
R6874:Lrp10	UTSW	14	54,705,670 (GRCm39)	missense	possibly damaging	0.50
R6958:Lrp10	UTSW	14	54,707,278 (GRCm39)	unclassified	probably benign
R6989:Lrp10	UTSW	14	54,705,950 (GRCm39)	missense	probably benign	0.30
R7162:Lrp10	UTSW	14	54,703,163 (GRCm39)	missense	possibly damaging	0.60
R7453:Lrp10	UTSW	14	54,705,913 (GRCm39)	missense	probably damaging	1.00
R7600:Lrp10	UTSW	14	54,706,852 (GRCm39)	missense	possibly damaging	0.93
R9087:Lrp10	UTSW	14	54,705,621 (GRCm39)	missense	probably damaging	0.99
X0026:Lrp10	UTSW	14	54,706,856 (GRCm39)	nonsense	probably null
X0027:Lrp10	UTSW	14	54,705,992 (GRCm39)	missense	probably damaging	1.00
Z1088:Lrp10	UTSW	14	54,705,379 (GRCm39)	missense	probably benign	0.01
Z1177:Lrp10	UTSW	14	54,705,018 (GRCm39)	missense	possibly damaging	0.75

Predicted Primers

PCR Primer
(F):5'- GGGCCTGCTTCCTCGAACTAATAC -3'
(R):5'- AGGCAAGCAATGGTTCATCCTCTG -3'

Sequencing Primer
(F):5'- TCTGAGGCCCTGGATGAC -3'
(R):5'- AATGGTTCATCCTCTGCCTCC -3'

Posted On

2014-05-23