Mutagenetix > Incidental Mutation

Incidental Mutation 'R4857:Lmbr1'

374039

Institutional Source

Beutler Lab

Gene Symbol

Lmbr1

Ensembl Gene

ENSMUSG00000010721

Gene Name

limb region 1

Synonyms

1110048D14Rik, C79130

MMRRC Submission

042468-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4857 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29434800-29583414 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29528807 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 112 (L112P)

Ref Sequence

ENSEMBL: ENSMUSP00000142755 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055195] [ENSMUST00000179191] [ENSMUST00000196321] [ENSMUST00000198105] [ENSMUST00000200564]

AlphaFold

Q9JIT0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055195
AA Change: L139P

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000058405
Gene: ENSMUSG00000010721
AA Change: L139P

Domain	Start	End	E-Value	Type
Pfam:LMBR1	26	281	3.5e-46	PFAM
Pfam:LMBR1	239	445	1.7e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000179191

SMART Domains

Protein: ENSMUSP00000136160
Gene: ENSMUSG00000010721

Domain	Start	End	E-Value	Type
Pfam:LMBR1	23	108	6e-31	PFAM
Pfam:LMBR1	106	418	5.3e-99	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000196321
AA Change: L16P

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000143348
Gene: ENSMUSG00000010721
AA Change: L16P

Domain	Start	End	E-Value	Type
Pfam:LMBR1	1	323	4e-106	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000198105
AA Change: L112P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142755
Gene: ENSMUSG00000010721
AA Change: L112P

Domain	Start	End	E-Value	Type
Pfam:LMBR1	23	107	5.4e-30	PFAM
Pfam:LMBR1	106	419	3.4e-101	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198367

Predicted Effect

possibly damaging
Transcript: ENSMUST00000200564
AA Change: L16P

PolyPhen 2 Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000143316
Gene: ENSMUSG00000010721
AA Change: L16P

Domain	Start	End	E-Value	Type
Pfam:LMBR1	1	310	8.6e-92	PFAM

Meta Mutation Damage Score

0.3422

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.3%

Validation Efficiency

97% (115/119)

MGI Phenotype

FUNCTION: This gene encodes a member of the LMBR1-like membrane protein family. Another member of this protein family has been shown to be a lipocalin transmembrane receptor. A highly conserved, cis-acting regulatory module for the sonic hedgehog gene is located within an intron of this gene. Consequently, disruption of this genic region can alter sonic hedgehog expression and affect limb patterning, but it is not known if this gene functions directly in limb development. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele show minor coalitions of distal wrist bones and a low incidence of limb defects, including oligodactyly, brachyphalangia, and soft tissue or bony syndactyly. Homozygotes for another null allele exhibit normal morphology,clinical chemistry, hematology and behavior. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930548G14Rik	C	T	15: 46,488,927 (GRCm39)		noncoding transcript	Het
Aasdh	A	T	5: 77,035,131 (GRCm39)	F428L	probably benign	Het
Abca13	A	G	11: 9,244,143 (GRCm39)	N2002S	probably benign	Het
Acot7	T	G	4: 152,322,211 (GRCm39)	F248V	possibly damaging	Het
Acsf2	A	G	11: 94,460,164 (GRCm39)	I396T	probably benign	Het
Agbl1	A	G	7: 76,069,583 (GRCm39)	N372D	probably benign	Het
Ahctf1	A	T	1: 179,626,922 (GRCm39)		probably benign	Het
Akap11	T	C	14: 78,736,300 (GRCm39)	D1830G		Het
Bcl7b	A	G	5: 135,202,033 (GRCm39)	*59W	probably null	Het
Bdh1	A	G	16: 31,266,366 (GRCm39)		probably null	Het
Bin3	A	G	14: 70,366,344 (GRCm39)	N69S	probably benign	Het
Bltp3b	A	T	10: 89,615,825 (GRCm39)	N156I	probably damaging	Het
Bsdc1	T	C	4: 129,365,685 (GRCm39)		probably benign	Het
Cacna1i	T	C	15: 80,253,863 (GRCm39)	V700A	probably damaging	Het
Calcr	T	C	6: 3,708,511 (GRCm39)	N225S	probably benign	Het
Cby2	C	T	14: 75,830,478 (GRCm39)	E8K	probably damaging	Het
Cdh23	A	G	10: 60,227,563 (GRCm39)	S1173P	probably damaging	Het
Cftr	C	T	6: 18,320,974 (GRCm39)	T1428M	possibly damaging	Het
Chd1l	T	C	3: 97,479,975 (GRCm39)	K591E	probably benign	Het
Chrd	C	T	16: 20,557,508 (GRCm39)	P709L	possibly damaging	Het
Ckap4	T	C	10: 84,369,352 (GRCm39)	R127G	possibly damaging	Het
Cnbd2	T	C	2: 156,209,485 (GRCm39)	F476S	probably benign	Het
Dclk3	T	C	9: 111,297,716 (GRCm39)	V420A	probably benign	Het
Dnah5	A	G	15: 28,345,953 (GRCm39)	D2431G	probably benign	Het
Duox1	T	A	2: 122,146,212 (GRCm39)	I10N	probably benign	Het
Ece2	T	A	16: 20,436,556 (GRCm39)	V126D	probably damaging	Het
Elfn1	T	C	5: 139,958,840 (GRCm39)	Y615H	probably damaging	Het
Epha1	T	C	6: 42,338,416 (GRCm39)	D720G	probably benign	Het
Fras1	A	G	5: 96,926,018 (GRCm39)	I3741V	probably benign	Het
Gm53	A	T	11: 96,142,562 (GRCm39)		noncoding transcript	Het
Grb10	G	T	11: 11,901,469 (GRCm39)		probably benign	Het
Grid2ip	A	G	5: 143,368,384 (GRCm39)	H568R	probably damaging	Het
Gsap	A	T	5: 21,492,797 (GRCm39)		probably null	Het
Gse1	T	C	8: 121,299,496 (GRCm39)		probably benign	Het
Gstm1	T	C	3: 107,923,724 (GRCm39)	R94G	possibly damaging	Het
Gtf2ird1	A	G	5: 134,391,398 (GRCm39)	F866L	probably damaging	Het
Haao	T	A	17: 84,146,009 (GRCm39)		probably null	Het
Hcn4	A	T	9: 58,766,853 (GRCm39)	I805F	unknown	Het
Hemk1	A	T	9: 107,206,647 (GRCm39)		probably benign	Het
Il12rb1	A	T	8: 71,263,232 (GRCm39)	Y33F	possibly damaging	Het
Il19	T	A	1: 130,863,683 (GRCm39)	I103F	probably damaging	Het
Itpr1	A	G	6: 108,387,828 (GRCm39)	N1522S	probably benign	Het
Klhdc8a	A	G	1: 132,230,843 (GRCm39)	Y236C	probably damaging	Het
Klhl3	C	T	13: 58,166,620 (GRCm39)	G404S	probably damaging	Het
Large2	T	C	2: 92,196,979 (GRCm39)		probably benign	Het
Lgi1	C	A	19: 38,294,698 (GRCm39)	A490E	probably damaging	Het
Lmo7	T	A	14: 102,124,784 (GRCm39)		probably null	Het
Lpin1	A	C	12: 16,613,631 (GRCm39)	I479S	possibly damaging	Het
Lrrc40	T	A	3: 157,771,866 (GRCm39)		probably benign	Het
Lrrc9	A	G	12: 72,546,466 (GRCm39)	N1218S	possibly damaging	Het
Map3k9	A	G	12: 81,771,401 (GRCm39)	V729A	probably benign	Het
Marf1	A	T	16: 13,946,475 (GRCm39)	Y1215*	probably null	Het
Moap1	T	A	12: 102,708,824 (GRCm39)	I242L	probably benign	Het
Mpo	A	G	11: 87,687,107 (GRCm39)	K218E	probably benign	Het
Mpz	C	T	1: 170,986,379 (GRCm39)	R98C	probably damaging	Het
Neb	T	G	2: 52,091,992 (GRCm39)	K5024T	probably damaging	Het
Nlrp4b	C	T	7: 10,449,225 (GRCm39)	T109I	probably benign	Het
Noc3l	T	A	19: 38,781,244 (GRCm39)		probably null	Het
Nosip	G	A	7: 44,726,102 (GRCm39)	V220I	probably benign	Het
Nyap1	A	C	5: 137,733,840 (GRCm39)	S398A	probably damaging	Het
Or12d17	A	G	17: 37,777,714 (GRCm39)	M206V	possibly damaging	Het
Or4a68	T	G	2: 89,269,967 (GRCm39)	I219L	probably damaging	Het
Or4f54	A	G	2: 111,123,488 (GRCm39)	N292D	possibly damaging	Het
Osbpl7	T	C	11: 96,947,495 (GRCm39)		probably benign	Het
Pard3	A	T	8: 128,050,535 (GRCm39)	Y199F	probably damaging	Het
Pcdha11	G	A	18: 37,144,505 (GRCm39)	V199I	probably benign	Het
Pcdhga8	A	T	18: 37,859,967 (GRCm39)	N341I	probably damaging	Het
Pcsk4	A	G	10: 80,160,873 (GRCm39)	S318P	probably damaging	Het
Phldb1	C	A	9: 44,607,389 (GRCm39)	R1272L	probably damaging	Het
Phlpp2	A	G	8: 110,603,642 (GRCm39)	T103A	probably damaging	Het
Pibf1	T	A	14: 99,423,937 (GRCm39)	Y503*	probably null	Het
Pkn1	A	T	8: 84,410,856 (GRCm39)		probably null	Het
Pramel22	A	T	4: 143,383,158 (GRCm39)	N20K	possibly damaging	Het
Ptprf	A	G	4: 118,074,394 (GRCm39)		probably benign	Het
Rbm19	C	A	5: 120,270,898 (GRCm39)		probably benign	Het
Rcan1	T	C	16: 92,262,794 (GRCm39)	D5G	possibly damaging	Het
Recql5	A	T	11: 115,819,038 (GRCm39)	L176Q	probably damaging	Het
Rev3l	T	A	10: 39,714,455 (GRCm39)	L2393Q	probably damaging	Het
Rp1	C	A	1: 4,422,539 (GRCm39)	K180N	probably damaging	Het
Rp1	T	A	1: 4,422,540 (GRCm39)	K180M	probably damaging	Het
Sdk1	T	C	5: 142,147,531 (GRCm39)	V1461A	probably benign	Het
Sdk2	A	T	11: 113,712,208 (GRCm39)	L1653*	probably null	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Skint10	A	T	4: 112,603,830 (GRCm39)	V119D	possibly damaging	Het
Sncaip	T	C	18: 53,002,297 (GRCm39)	S273P	probably benign	Het
Sp1	T	G	15: 102,339,409 (GRCm39)	I449S	probably damaging	Het
Spata31h1	T	C	10: 82,119,682 (GRCm39)	T4443A	possibly damaging	Het
Spats2	T	C	15: 99,072,301 (GRCm39)	L78P	probably damaging	Het
Stambp	T	A	6: 83,533,348 (GRCm39)	N305I	probably benign	Het
Stim2	A	T	5: 54,275,888 (GRCm39)	S688C	probably damaging	Het
Sytl3	A	G	17: 7,003,980 (GRCm39)	N355S	probably damaging	Het
Taf4b	C	T	18: 14,937,635 (GRCm39)	A236V	probably null	Het
Tnfaip6	A	G	2: 51,941,086 (GRCm39)		probably null	Het
Trpc2	T	A	7: 101,733,176 (GRCm39)	S416T	probably benign	Het
Ttn	T	C	2: 76,569,210 (GRCm39)	T27228A	probably damaging	Het
Ush2a	T	A	1: 188,269,917 (GRCm39)	D1721E	probably benign	Het
Usp47	T	A	7: 111,681,759 (GRCm39)	H523Q	probably damaging	Het
Vmn1r8	A	T	6: 57,013,338 (GRCm39)	I130F	probably benign	Het
Vps13b	A	G	15: 35,456,800 (GRCm39)	S749G	probably benign	Het
Xrcc5	C	A	1: 72,365,424 (GRCm39)	T283K	possibly damaging	Het
Ydjc	A	G	16: 16,966,002 (GRCm39)		probably benign	Het

Other mutations in Lmbr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01645:Lmbr1	APN	5	29,440,053 (GRCm39)	missense	probably damaging	1.00
IGL02285:Lmbr1	APN	5	29,459,233 (GRCm39)	splice site	probably benign
IGL02793:Lmbr1	APN	5	29,497,186 (GRCm39)	missense	probably damaging	1.00
IGL02875:Lmbr1	APN	5	29,497,186 (GRCm39)	missense	probably damaging	1.00
IGL03103:Lmbr1	APN	5	29,440,014 (GRCm39)	missense	probably damaging	0.99
IGL02988:Lmbr1	UTSW	5	29,497,221 (GRCm39)	splice site	probably null
R0255:Lmbr1	UTSW	5	29,457,753 (GRCm39)	missense	probably damaging	1.00
R0594:Lmbr1	UTSW	5	29,497,207 (GRCm39)	missense	possibly damaging	0.87
R0993:Lmbr1	UTSW	5	29,492,391 (GRCm39)	missense	probably damaging	1.00
R1036:Lmbr1	UTSW	5	29,463,745 (GRCm39)	missense	probably damaging	1.00
R1570:Lmbr1	UTSW	5	29,459,556 (GRCm39)	missense	probably damaging	1.00
R1724:Lmbr1	UTSW	5	29,566,081 (GRCm39)	missense	probably benign	0.03
R2056:Lmbr1	UTSW	5	29,438,092 (GRCm39)	missense	probably benign	0.07
R2996:Lmbr1	UTSW	5	29,568,931 (GRCm39)	missense	probably benign	0.29
R4082:Lmbr1	UTSW	5	29,463,753 (GRCm39)	missense	probably damaging	1.00
R4618:Lmbr1	UTSW	5	29,551,863 (GRCm39)	missense	probably damaging	1.00
R4842:Lmbr1	UTSW	5	29,492,424 (GRCm39)	missense	probably damaging	0.97
R5495:Lmbr1	UTSW	5	29,551,851 (GRCm39)	nonsense	probably null
R5647:Lmbr1	UTSW	5	29,468,391 (GRCm39)	critical splice donor site	probably null
R6393:Lmbr1	UTSW	5	29,459,292 (GRCm39)	missense	probably damaging	1.00
R6466:Lmbr1	UTSW	5	29,583,166 (GRCm39)	missense	probably benign	0.05
R6486:Lmbr1	UTSW	5	29,528,859 (GRCm39)	missense	probably damaging	0.99
R6576:Lmbr1	UTSW	5	29,496,308 (GRCm39)	missense	probably damaging	1.00
R6874:Lmbr1	UTSW	5	29,497,904 (GRCm39)	missense	probably damaging	1.00
R7085:Lmbr1	UTSW	5	29,566,090 (GRCm39)	splice site	probably null
R7484:Lmbr1	UTSW	5	29,551,850 (GRCm39)	start gained	probably benign
R7487:Lmbr1	UTSW	5	29,459,262 (GRCm39)	missense	probably benign	0.38
R8390:Lmbr1	UTSW	5	29,440,040 (GRCm39)	missense	probably benign	0.00
R9006:Lmbr1	UTSW	5	29,551,900 (GRCm39)	missense	probably benign	0.03
R9596:Lmbr1	UTSW	5	29,440,105 (GRCm39)	nonsense	probably null
Z1088:Lmbr1	UTSW	5	29,528,814 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAAACGTGCTCCCGGATTGAG -3'
(R):5'- TCTTTGGATCGCTGCCTATAAG -3'

Sequencing Primer
(F):5'- GTGCACAAGGTAGTCACTGTGC -3'
(R):5'- TGGATCGCTGCCTATAAGATATC -3'

Posted On

2016-03-01