Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02152:Lrp2bp'

282090

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lrp2bp

Ensembl Gene

ENSMUSG00000031637

Gene Name

Lrp2 binding protein

Synonyms

4930479L12Rik, MegBP, 1700113N17Rik

Accession Numbers

Essential gene?

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

Stock #

IGL02152

Quality Score

Status

Chromosome

Chromosomal Location

46463639-46482515 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 46476081 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 274 (Y274F)

Ref Sequence

ENSEMBL: ENSMUSP00000067177 (fasta)

Gene Model

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

AlphaFold

Q9D4C6

Predicted Effect

probably damaging
Transcript: ENSMUST00000066451
AA Change: Y274F

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

SMART Domains

Protein: ENSMUSP00000067177
Gene: ENSMUSG00000031637
AA Change: Y274F

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 damaging
Transcript: ENSMUST00000110380
AA Change: Y253F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106009
Gene: ENSMUSG00000031637
AA Change: Y253F

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 damaging
Transcript: ENSMUST00000110381
AA Change: Y253F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106010
Gene: ENSMUSG00000031637
AA Change: Y253F

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: ENSMUST00000132341

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138230

Predicted Effect

probably benign
Transcript: ENSMUST00000145597

SMART Domains

Protein: ENSMUSP00000135210
Gene: ENSMUSG00000031637

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

Validation Efficiency

Allele List at MGI

All alleles(3) : Targeted(3)

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028K03Rik	A	G	5: 107,695,983 (GRCm39)	T140A	probably benign	Het
4933430I17Rik	T	C	4: 62,460,991 (GRCm39)	Y289H	possibly damaging	Het
Adamts17	T	A	7: 66,774,748 (GRCm39)	S956T	probably benign	Het
Adamts6	A	T	13: 104,450,168 (GRCm39)	S290C	probably null	Het
Apaf1	A	T	10: 90,897,681 (GRCm39)	H267Q	probably benign	Het
Aplp2	G	A	9: 31,122,947 (GRCm39)	P26L	unknown	Het
Arid1b	C	T	17: 5,364,243 (GRCm39)	S1019F	probably damaging	Het
Armc3	G	A	2: 19,290,948 (GRCm39)		probably null	Het
Ass1	T	C	2: 31,382,336 (GRCm39)	I169T	probably damaging	Het
Ccser1	A	G	6: 61,288,692 (GRCm39)	D285G	possibly damaging	Het
Cenpf	A	G	1: 189,381,209 (GRCm39)	V2737A	probably benign	Het
Chrm5	A	G	2: 112,310,913 (GRCm39)	Y68H	probably damaging	Het
Cops4	A	G	5: 100,681,456 (GRCm39)	T164A	probably benign	Het
Cox4i1	A	G	8: 121,399,604 (GRCm39)	S72G	probably benign	Het
Cpox	A	G	16: 58,494,787 (GRCm39)	T275A	possibly damaging	Het
Cyb5a	T	C	18: 84,891,281 (GRCm39)	I68T	probably benign	Het
Efna5	T	C	17: 62,958,055 (GRCm39)	D67G	probably benign	Het
Enpp3	T	C	10: 24,649,900 (GRCm39)	E842G	probably damaging	Het
Fam210b	A	G	2: 172,193,423 (GRCm39)	K79E	probably benign	Het
Gm4799	T	C	10: 82,790,589 (GRCm39)		noncoding transcript	Het
Gpr146	A	T	5: 139,378,467 (GRCm39)	R90W	probably damaging	Het
H2ac10	A	G	13: 23,718,451 (GRCm39)	H124R	probably benign	Het
Hal	A	G	10: 93,339,404 (GRCm39)	I498V	possibly damaging	Het
Hnrnpm	C	T	17: 33,877,386 (GRCm39)	G365R	probably damaging	Het
Jakmip3	A	G	7: 138,627,217 (GRCm39)	D407G	probably damaging	Het
Kank1	A	G	19: 25,405,536 (GRCm39)	I1185V	possibly damaging	Het
Kcnj16	A	T	11: 110,916,036 (GRCm39)	M233L	probably benign	Het
Klhl5	A	T	5: 65,306,143 (GRCm39)	Q370L	probably damaging	Het
L3hypdh	C	T	12: 72,123,917 (GRCm39)		probably null	Het
Las1l	A	G	X: 94,996,908 (GRCm39)	V130A	probably damaging	Het
Liat1	A	G	11: 75,894,051 (GRCm39)	I143V	probably benign	Het
Morc2b	T	A	17: 33,356,917 (GRCm39)	K285M	probably damaging	Het
Mpp3	A	T	11: 101,916,216 (GRCm39)	Y45*	probably null	Het
Muc4	T	A	16: 32,598,023 (GRCm39)		probably benign	Het
Muc5ac	T	C	7: 141,353,914 (GRCm39)	C837R	possibly damaging	Het
Nr2f6	T	A	8: 71,828,810 (GRCm39)	I155F	probably damaging	Het
Nsg1	A	G	5: 38,302,145 (GRCm39)	F50L	probably benign	Het
Or14a258	T	A	7: 86,035,251 (GRCm39)	M206L	probably benign	Het
Ostf1	C	A	19: 18,567,822 (GRCm39)	G101C	probably damaging	Het
Pam	C	T	1: 97,768,474 (GRCm39)	R552Q	probably damaging	Het
Pkd1l3	A	G	8: 110,395,924 (GRCm39)	N2108S	probably damaging	Het
Prkdc	A	T	16: 15,487,149 (GRCm39)	H484L	probably benign	Het
Pwwp3a	A	G	10: 80,075,812 (GRCm39)	D466G	probably damaging	Het
Rfx5	G	A	3: 94,864,493 (GRCm39)	R213Q	probably damaging	Het
Ryr1	T	C	7: 28,751,440 (GRCm39)	S3715G	possibly damaging	Het
Sall2	A	G	14: 52,552,971 (GRCm39)	S73P	probably damaging	Het
Sec22c	G	A	9: 121,513,845 (GRCm39)	A264V	probably benign	Het
Sis	A	C	3: 72,796,319 (GRCm39)		probably benign	Het
Spam1	T	A	6: 24,800,802 (GRCm39)		probably benign	Het
Spmip2	T	C	3: 79,252,839 (GRCm39)	I18T	possibly damaging	Het
St13	T	A	15: 81,250,583 (GRCm39)	I318F	probably damaging	Het
Syne1	T	C	10: 5,374,382 (GRCm39)	I142V	probably damaging	Het
Tasor2	C	T	13: 3,635,371 (GRCm39)	E479K	probably benign	Het
Trpm6	A	T	19: 18,809,903 (GRCm39)	T1100S	possibly damaging	Het
Ttll6	G	A	11: 96,026,366 (GRCm39)	W90*	probably null	Het
Txndc12	T	A	4: 108,691,989 (GRCm39)	C9*	probably null	Het
Ubr7	C	T	12: 102,734,535 (GRCm39)	Q270*	probably null	Het
Vps33b	A	G	7: 79,934,817 (GRCm39)	S302G	probably benign	Het
Xylt1	T	A	7: 117,233,997 (GRCm39)	V508E	probably damaging	Het
Zbtb26	A	T	2: 37,326,703 (GRCm39)	L111Q	possibly damaging	Het
Zfp410	T	C	12: 84,379,702 (GRCm39)		probably benign	Het
Zscan18	A	T	7: 12,509,223 (GRCm39)		probably benign	Het

Other mutations in Lrp2bp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R4716:Lrp2bp	UTSW	8	46,466,208 (GRCm39)	missense	probably benign	0.23
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

Posted On

2015-04-16