Mutagenetix > Incidental Mutation

Incidental Mutation 'R4716:Lrp2bp'

354038

Institutional Source

Beutler Lab

Gene Symbol

Lrp2bp

Ensembl Gene

ENSMUSG00000031637

Gene Name

Lrp2 binding protein

Synonyms

4930479L12Rik, MegBP, 1700113N17Rik

MMRRC Submission

041983-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.265) question?

Stock #

R4716 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

46463639-46482515 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 46466208 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 106 (I106F)

Ref Sequence

ENSEMBL: ENSMUSP00000135210 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066451] [ENSMUST00000110380] [ENSMUST00000110381] [ENSMUST00000145597]

AlphaFold

Q9D4C6

Predicted Effect

probably benign
Transcript: ENSMUST00000066451
AA Change: I127F

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000067177
Gene: ENSMUSG00000031637
AA Change: I127F

Domain	Start	End	E-Value	Type
low complexity region	42	53	N/A	INTRINSIC
SEL1	110	145	4.45e-3	SMART
SEL1	153	188	5.07e-7	SMART
SEL1	193	226	6.3e-3	SMART
SEL1	227	262	3.9e-8	SMART
Blast:SEL1	263	293	1e-5	BLAST
SEL1	317	352	7.57e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110380
AA Change: I106F

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000106009
Gene: ENSMUSG00000031637
AA Change: I106F

Domain	Start	End	E-Value	Type
low complexity region	21	32	N/A	INTRINSIC
SEL1	89	124	4.45e-3	SMART
SEL1	132	167	5.07e-7	SMART
SEL1	172	205	6.3e-3	SMART
SEL1	206	241	3.9e-8	SMART
Blast:SEL1	242	272	1e-5	BLAST
SEL1	296	331	7.57e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110381
AA Change: I106F

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000106010
Gene: ENSMUSG00000031637
AA Change: I106F

Domain	Start	End	E-Value	Type
low complexity region	21	32	N/A	INTRINSIC
SEL1	89	124	4.45e-3	SMART
SEL1	132	167	5.07e-7	SMART
SEL1	172	205	6.3e-3	SMART
SEL1	206	241	3.9e-8	SMART
Blast:SEL1	242	272	1e-5	BLAST
SEL1	296	331	7.57e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138230

Predicted Effect

probably benign
Transcript: ENSMUST00000145597
AA Change: I106F

PolyPhen 2 Score 0.230 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000135210
Gene: ENSMUSG00000031637
AA Change: I106F

Domain	Start	End	E-Value	Type
low complexity region	21	32	N/A	INTRINSIC
SEL1	89	124	4.45e-3	SMART
SEL1	132	167	5.07e-7	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

Allele List at MGI

All alleles(3) : Targeted(3)

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	C	T	16: 56,471,088 (GRCm39)	R578*	probably null	Het
Adam8	T	A	7: 139,563,851 (GRCm39)	D717V	probably benign	Het
Aknad1	T	C	3: 108,682,417 (GRCm39)		probably null	Het
Alk	A	T	17: 72,512,937 (GRCm39)	W341R	probably damaging	Het
Ankdd1b	G	A	13: 96,591,091 (GRCm39)	Q101*	probably null	Het
Anpep	A	C	7: 79,476,380 (GRCm39)	S829A	probably benign	Het
Armh3	A	G	19: 45,948,781 (GRCm39)	S233P	probably damaging	Het
Ate1	A	T	7: 130,115,511 (GRCm39)	C72S	probably damaging	Het
Atp6v0a4	G	A	6: 38,037,999 (GRCm39)	L533F	probably damaging	Het
Bach1	T	C	16: 87,512,267 (GRCm39)		probably benign	Het
Baz2b	T	C	2: 59,799,599 (GRCm39)	D240G	probably benign	Het
Cdc14b	C	T	13: 64,357,014 (GRCm39)	S21N	probably damaging	Het
Cdh3	A	G	8: 107,270,520 (GRCm39)	I466V	probably benign	Het
Cog1	A	G	11: 113,547,923 (GRCm39)	E137G	probably damaging	Het
Col4a2	A	G	8: 11,452,224 (GRCm39)	D180G	probably damaging	Het
Cyp2c40	A	T	19: 39,791,105 (GRCm39)		probably null	Het
Dclk2	C	T	3: 86,827,188 (GRCm39)	R97H	probably damaging	Het
Ddx52	T	C	11: 83,846,031 (GRCm39)		probably null	Het
Dhx58	C	T	11: 100,587,797 (GRCm39)		probably null	Het
Dmp1	T	A	5: 104,360,427 (GRCm39)	S368T	probably damaging	Het
Dnah17	C	A	11: 117,964,474 (GRCm39)	V2435L	probably benign	Het
Dnajc7	A	G	11: 100,510,402 (GRCm39)	V10A	probably benign	Het
Dscam	G	T	16: 96,420,771 (GRCm39)	T1705K	possibly damaging	Het
Dscaml1	G	A	9: 45,361,890 (GRCm39)	V217M	probably damaging	Het
Dync2h1	A	G	9: 7,142,648 (GRCm39)		probably null	Het
F5	A	G	1: 164,021,488 (GRCm39)	D1321G	probably damaging	Het
Fam174a	C	T	1: 95,241,770 (GRCm39)	P77S	probably benign	Het
Fars2	G	A	13: 36,389,051 (GRCm39)	R180H	probably damaging	Het
Fnbp1	T	C	2: 30,945,532 (GRCm39)	T154A	probably benign	Het
Fsip2	T	A	2: 82,805,203 (GRCm39)	N507K	probably damaging	Het
Glg1	G	T	8: 111,887,407 (GRCm39)	Y449*	probably null	Het
Gm15130	A	T	2: 110,964,560 (GRCm39)	Y187*	probably null	Het
Gm973	A	T	1: 59,591,713 (GRCm39)	K366*	probably null	Het
H2bc11	T	A	13: 22,227,533 (GRCm39)	V45E	possibly damaging	Het
Hao1	A	G	2: 134,347,540 (GRCm39)	I255T	probably damaging	Het
Herc6	T	A	6: 57,575,423 (GRCm39)	V148E	probably damaging	Het
Insm2	T	A	12: 55,647,677 (GRCm39)	C474S	possibly damaging	Het
Itch	T	C	2: 155,052,502 (GRCm39)		probably null	Het
Itga2	A	G	13: 114,993,909 (GRCm39)	V748A	probably damaging	Het
Itga9	T	A	9: 118,510,826 (GRCm39)	S452T	probably damaging	Het
Kdm4b	C	A	17: 56,693,178 (GRCm39)	D338E	probably benign	Het
Krt40	G	A	11: 99,431,045 (GRCm39)	R155C	probably damaging	Het
Krtap16-1	A	G	11: 99,876,000 (GRCm39)	V468A	probably damaging	Het
Lactb2	G	A	1: 13,708,619 (GRCm39)	P143L	probably damaging	Het
Lrba	C	A	3: 86,550,021 (GRCm39)	T2330K	probably damaging	Het
Luzp2	A	G	7: 54,485,710 (GRCm39)	K2E	probably damaging	Het
Lypd6	T	C	2: 50,078,855 (GRCm39)		probably null	Het
Maml1	A	T	11: 50,148,694 (GRCm39)	D1015E	probably benign	Het
Mdfi	T	G	17: 48,131,906 (GRCm39)	D106A	possibly damaging	Het
Olfm3	T	C	3: 114,874,755 (GRCm39)	M17T	probably benign	Het
Or2n1d	A	C	17: 38,646,731 (GRCm39)	I228L	possibly damaging	Het
Or2o1	A	G	11: 49,051,717 (GRCm39)	Y292C	probably damaging	Het
Or8c16	T	A	9: 38,130,714 (GRCm39)	N198K	probably damaging	Het
Or8g30	A	G	9: 39,230,725 (GRCm39)	F62L	probably benign	Het
Otud7b	T	G	3: 96,058,227 (GRCm39)	L261V	probably damaging	Het
P2ry1	A	G	3: 60,910,893 (GRCm39)	N11D	probably damaging	Het
Pate2	T	C	9: 35,596,978 (GRCm39)		probably benign	Het
Pcdhb16	A	T	18: 37,612,458 (GRCm39)	T473S	probably benign	Het
Per1	A	G	11: 68,992,057 (GRCm39)	E137G	probably damaging	Het
Phf11d	T	C	14: 59,590,791 (GRCm39)	T189A	probably benign	Het
Pik3r5	C	A	11: 68,386,030 (GRCm39)	S738R	possibly damaging	Het
Pikfyve	A	G	1: 65,285,635 (GRCm39)	Y913C	possibly damaging	Het
Pkd1	T	G	17: 24,795,107 (GRCm39)	S2265A	probably damaging	Het
Pkhd1l1	C	A	15: 44,419,428 (GRCm39)	N2964K	probably damaging	Het
Plch1	T	G	3: 63,688,967 (GRCm39)	D79A	probably damaging	Het
Pnliprp1	A	C	19: 58,728,901 (GRCm39)	T363P	possibly damaging	Het
Ppp1r10	T	A	17: 36,240,352 (GRCm39)	D547E	probably benign	Het
Prkdc	T	A	16: 15,628,701 (GRCm39)	I3482K	probably benign	Het
Ptpn4	A	G	1: 119,649,598 (GRCm39)	Y333H	probably damaging	Het
Ptpru	T	A	4: 131,548,279 (GRCm39)	M73L	probably benign	Het
Rrp12	A	G	19: 41,865,867 (GRCm39)	Y698H	probably damaging	Het
Scaf8	T	C	17: 3,227,398 (GRCm39)	F338L	unknown	Het
Slc17a1	G	T	13: 24,064,576 (GRCm39)	V347L	probably benign	Het
Slc1a2	T	A	2: 102,578,883 (GRCm39)	V263E	probably damaging	Het
Slc29a4	T	C	5: 142,704,327 (GRCm39)	V327A	probably benign	Het
Slc6a3	A	C	13: 73,705,195 (GRCm39)	I229L	probably benign	Het
Sos2	T	C	12: 69,654,145 (GRCm39)	I703V	probably benign	Het
Srpk1	T	C	17: 28,840,982 (GRCm39)	T15A	probably benign	Het
St6gal2	A	T	17: 55,817,367 (GRCm39)	Q510L	probably benign	Het
Stk24	T	C	14: 121,532,130 (GRCm39)	D289G	possibly damaging	Het
Taf2	T	G	15: 54,929,364 (GRCm39)	K64T	probably benign	Het
Tbx3	A	G	5: 119,813,735 (GRCm39)	E257G	possibly damaging	Het
Tmem102	A	T	11: 69,695,022 (GRCm39)	F317I	probably damaging	Het
Trav10	A	G	14: 53,743,497 (GRCm39)	S33G	possibly damaging	Het
Ttn	T	A	2: 76,745,408 (GRCm39)	I5214F	probably damaging	Het
Ube2f	T	A	1: 91,182,002 (GRCm39)	L2Q	probably damaging	Het
Ube4b	A	G	4: 149,429,069 (GRCm39)	F857L	probably damaging	Het
Vmn2r18	T	A	5: 151,485,602 (GRCm39)	I631F	possibly damaging	Het
Zfp280d	T	A	9: 72,219,947 (GRCm39)	S241T	possibly damaging	Het
Zfp638	T	A	6: 83,956,544 (GRCm39)	L1717*	probably null	Het
Zfp719	A	G	7: 43,240,535 (GRCm39)	N708D	possibly damaging	Het

Other mutations in Lrp2bp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02152:Lrp2bp	APN	8	46,476,081 (GRCm39)	missense	probably damaging	1.00
PIT4280001:Lrp2bp	UTSW	8	46,476,048 (GRCm39)	missense	probably damaging	0.98
R0016:Lrp2bp	UTSW	8	46,465,068 (GRCm39)	missense	probably damaging	1.00
R0016:Lrp2bp	UTSW	8	46,465,068 (GRCm39)	missense	probably damaging	1.00
R0046:Lrp2bp	UTSW	8	46,466,192 (GRCm39)	nonsense	probably null
R0046:Lrp2bp	UTSW	8	46,466,192 (GRCm39)	nonsense	probably null
R0514:Lrp2bp	UTSW	8	46,464,995 (GRCm39)	missense	probably damaging	1.00
R0838:Lrp2bp	UTSW	8	46,478,161 (GRCm39)	missense	possibly damaging	0.87
R1465:Lrp2bp	UTSW	8	46,478,272 (GRCm39)	missense	possibly damaging	0.93
R1465:Lrp2bp	UTSW	8	46,478,272 (GRCm39)	missense	possibly damaging	0.93
R1735:Lrp2bp	UTSW	8	46,465,025 (GRCm39)	missense	probably benign	0.26
R1842:Lrp2bp	UTSW	8	46,464,152 (GRCm39)	missense	probably benign
R2191:Lrp2bp	UTSW	8	46,466,206 (GRCm39)	missense	probably benign	0.07
R2192:Lrp2bp	UTSW	8	46,466,206 (GRCm39)	missense	probably benign	0.07
R6722:Lrp2bp	UTSW	8	46,473,600 (GRCm39)	critical splice donor site	probably null
R6789:Lrp2bp	UTSW	8	46,466,151 (GRCm39)	missense	possibly damaging	0.56
R7643:Lrp2bp	UTSW	8	46,473,564 (GRCm39)	splice site	probably null
R8807:Lrp2bp	UTSW	8	46,473,732 (GRCm39)	missense	probably damaging	1.00
R9656:Lrp2bp	UTSW	8	46,466,158 (GRCm39)	missense	probably benign	0.30

Predicted Primers

PCR Primer
(F):5'- GCAGAAATGACCATTGTATGCTGC -3'
(R):5'- GTTTGGACCTGAATGGGGAC -3'

Sequencing Primer
(F):5'- AAATGACCATTGTATGCTGCTGTTTG -3'
(R):5'- GAAGGGACCAAAAGAAATTAACTTTG -3'

Posted On

2015-10-21