Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03123:Lrp11'

410037

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lrp11

Ensembl Gene

ENSMUSG00000019796

Gene Name

low density lipoprotein receptor-related protein 11

Synonyms

1700034J19Rik, 9830160H19Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

IGL03123

Quality Score

Status

Chromosome

Chromosomal Location

7465564-7501247 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 7478689 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 326 (D326V)

Ref Sequence

ENSEMBL: ENSMUSP00000122853 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019931] [ENSMUST00000124961] [ENSMUST00000130590] [ENSMUST00000134346] [ENSMUST00000135907]

AlphaFold

Q8CB67

Predicted Effect

probably damaging
Transcript: ENSMUST00000019931
AA Change: D321V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000019931
Gene: ENSMUSG00000019796
AA Change: D321V

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
MANEC	69	172	1.24e-42	SMART
PKD	198	283	7.62e-2	SMART
LDLa	293	330	9.45e-6	SMART
transmembrane domain	434	456	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000124961

SMART Domains

Protein: ENSMUSP00000114479
Gene: ENSMUSG00000019796

Domain	Start	End	E-Value	Type
Blast:PKD	1	69	2e-42	BLAST
transmembrane domain	178	200	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000130590
AA Change: D321V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000121704
Gene: ENSMUSG00000019796
AA Change: D321V

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
MANEC	69	172	1.24e-42	SMART
PKD	198	283	7.62e-2	SMART
LDLa	293	330	9.45e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131528

Predicted Effect

probably damaging
Transcript: ENSMUST00000134346
AA Change: D326V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000122853
Gene: ENSMUSG00000019796
AA Change: D326V

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
MANEC	69	172	1.24e-42	SMART
PKD	198	288	1.59e-1	SMART
LDLa	298	335	9.45e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000135907

SMART Domains

Protein: ENSMUSP00000122359
Gene: ENSMUSG00000019796

Domain	Start	End	E-Value	Type
MANEC	44	147	1.24e-42	SMART
transmembrane domain	196	218	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap5m1	T	C	14: 49,311,218 (GRCm39)	V96A	probably damaging	Het
Atp10b	T	C	11: 43,044,110 (GRCm39)	V112A	probably benign	Het
Caprin2	G	T	6: 148,796,505 (GRCm39)	A36E	probably damaging	Het
Castor1	A	T	11: 4,170,278 (GRCm39)	T119S	probably damaging	Het
Dnase1l2	T	C	17: 24,661,226 (GRCm39)	M28V	possibly damaging	Het
Eci1	T	A	17: 24,655,300 (GRCm39)		probably null	Het
Edil3	T	A	13: 89,279,855 (GRCm39)	S178T	probably damaging	Het
Epha5	A	G	5: 84,479,085 (GRCm39)		probably null	Het
Exoc3l4	A	G	12: 111,388,547 (GRCm39)	E12G	probably damaging	Het
Frmd7	G	A	X: 49,984,835 (GRCm39)	T445I	probably benign	Het
Golga4	A	G	9: 118,365,953 (GRCm39)	E344G	probably damaging	Het
H2-M10.4	A	G	17: 36,772,812 (GRCm39)	Y57H	probably damaging	Het
Hnmt	T	C	2: 23,909,171 (GRCm39)	I81V	probably benign	Het
Hsd17b7	C	T	1: 169,780,649 (GRCm39)	E320K	probably damaging	Het
Htra3	C	T	5: 35,823,477 (GRCm39)	V280I	probably damaging	Het
Impg2	G	T	16: 56,087,485 (GRCm39)	E992D	probably damaging	Het
Kctd4	T	C	14: 76,200,418 (GRCm39)	W130R	possibly damaging	Het
Kdm3b	T	A	18: 34,942,544 (GRCm39)		probably null	Het
Kmt2d	G	A	15: 98,759,652 (GRCm39)	T1202M	unknown	Het
Lrrcc1	A	T	3: 14,601,144 (GRCm39)	I59F	probably damaging	Het
Lyg2	G	A	1: 37,954,845 (GRCm39)		probably benign	Het
Med16	A	G	10: 79,732,667 (GRCm39)	V699A	probably damaging	Het
Myo18b	G	T	5: 113,022,804 (GRCm39)		probably benign	Het
Nrxn2	A	G	19: 6,531,767 (GRCm39)	T744A	probably damaging	Het
Or1e1f	T	A	11: 73,855,812 (GRCm39)	I126N	probably damaging	Het
Oser1	A	T	2: 163,253,309 (GRCm39)		probably benign	Het
Pcdhgc5	T	C	18: 37,952,966 (GRCm39)	V80A	probably benign	Het
Pi4ka	C	T	16: 17,100,539 (GRCm39)	G1857D	possibly damaging	Het
Pitpnc1	C	T	11: 107,228,237 (GRCm39)		probably null	Het
Pofut2	A	G	10: 77,102,844 (GRCm39)	E137G	probably benign	Het
Rgsl1	A	T	1: 153,701,687 (GRCm39)	W291R	probably damaging	Het
Rnf113a2	T	C	12: 84,465,050 (GRCm39)	I314T	probably benign	Het
Rps2	C	T	17: 24,939,263 (GRCm39)		probably benign	Het
Setbp1	T	C	18: 78,900,224 (GRCm39)	K1148E	probably damaging	Het
Slc45a2	A	G	15: 11,012,741 (GRCm39)	D248G	probably benign	Het
Slit2	G	T	5: 48,368,681 (GRCm39)	R352L	probably damaging	Het
Smg1	A	G	7: 117,756,404 (GRCm39)		probably benign	Het
Sycp2	A	T	2: 177,994,272 (GRCm39)	C1217*	probably null	Het
Tbcb	A	G	7: 29,926,261 (GRCm39)		probably benign	Het
Tinf2	T	C	14: 55,918,346 (GRCm39)	D128G	probably damaging	Het
Traf3ip2	A	G	10: 39,515,218 (GRCm39)	D332G	possibly damaging	Het
Tram1	A	G	1: 13,659,829 (GRCm39)	F40L	probably benign	Het
Trank1	A	T	9: 111,196,475 (GRCm39)	I1500L	probably damaging	Het
Wdfy4	G	A	14: 32,884,827 (GRCm39)	P25L	probably benign	Het
Wnt5a	G	T	14: 28,244,882 (GRCm39)	Q376H	probably damaging	Het
Zfp526	A	C	7: 24,924,049 (GRCm39)	T103P	probably benign	Het

Other mutations in Lrp11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0962:Lrp11	UTSW	10	7,466,060 (GRCm39)	missense	probably benign	0.01
R1248:Lrp11	UTSW	10	7,480,058 (GRCm39)	missense	probably benign	0.00
R1822:Lrp11	UTSW	10	7,471,961 (GRCm39)	missense	probably damaging	1.00
R1895:Lrp11	UTSW	10	7,499,540 (GRCm39)	missense	probably damaging	1.00
R1902:Lrp11	UTSW	10	7,499,544 (GRCm39)	missense	probably damaging	1.00
R1903:Lrp11	UTSW	10	7,499,544 (GRCm39)	missense	probably damaging	1.00
R1946:Lrp11	UTSW	10	7,499,540 (GRCm39)	missense	probably damaging	1.00
R4727:Lrp11	UTSW	10	7,466,348 (GRCm39)	missense	probably benign	0.01
R4784:Lrp11	UTSW	10	7,479,965 (GRCm39)	missense	possibly damaging	0.95
R6192:Lrp11	UTSW	10	7,474,454 (GRCm39)	critical splice acceptor site	probably null
R6916:Lrp11	UTSW	10	7,484,478 (GRCm39)	splice site	probably null
R7622:Lrp11	UTSW	10	7,465,936 (GRCm39)	missense	unknown
R7697:Lrp11	UTSW	10	7,479,983 (GRCm39)	missense	probably benign	0.06

Posted On

2016-08-02