Mutagenetix > Incidental Mutation

Incidental Mutation 'R4082:Lmbr1'

368341

Institutional Source

Beutler Lab

Gene Symbol

Lmbr1

Ensembl Gene

ENSMUSG00000010721

Gene Name

limb region 1

Synonyms

1110048D14Rik, C79130

MMRRC Submission

041624-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4082 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29434800-29583414 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29463753 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 157 (E157G)

Ref Sequence

ENSEMBL: ENSMUSP00000143316 (fasta)

Gene Model

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

AlphaFold

Q9JIT0

Predicted Effect

probably damaging
Transcript: ENSMUST00000055195
AA Change: E280G

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

SMART Domains

Protein: ENSMUSP00000058405
Gene: ENSMUSG00000010721
AA Change: E280G

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 damaging
Transcript: ENSMUST00000179191
AA Change: E252G

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

SMART Domains

Protein: ENSMUSP00000136160
Gene: ENSMUSG00000010721
AA Change: E252G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000196321
AA Change: E157G

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

SMART Domains

Protein: ENSMUSP00000143348
Gene: ENSMUSG00000010721
AA Change: E157G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000198105
AA Change: E253G

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

SMART Domains

Protein: ENSMUSP00000142755
Gene: ENSMUSG00000010721
AA Change: E253G

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

probably benign
Transcript: ENSMUST00000200149

Predicted Effect

probably damaging
Transcript: ENSMUST00000200564
AA Change: E157G

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

SMART Domains

Protein: ENSMUSP00000143316
Gene: ENSMUSG00000010721
AA Change: E157G

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

Meta Mutation Damage Score

0.5681

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

99% (73/74)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700021P04Rik	T	G	19: 24,043,366 (GRCm39)		noncoding transcript	Het
a	A	T	2: 154,887,678 (GRCm39)	D46V	probably damaging	Het
Aass	A	T	6: 23,109,497 (GRCm39)	D324E	possibly damaging	Het
Abca12	G	T	1: 71,306,622 (GRCm39)	T2028K	possibly damaging	Het
Abt1	T	C	13: 23,606,316 (GRCm39)	T213A	probably benign	Het
Adcy1	A	C	11: 7,014,117 (GRCm39)	Y173S	probably damaging	Het
Aim2	T	C	1: 173,287,417 (GRCm39)		probably null	Het
Akr1d1	G	A	6: 37,534,424 (GRCm39)	V193M	probably damaging	Het
Cars1	C	T	7: 143,123,234 (GRCm39)	E461K	probably damaging	Het
Ccdc80	T	C	16: 44,943,290 (GRCm39)	L800P	probably damaging	Het
Ccl22	A	G	8: 95,473,536 (GRCm39)	Y27C	probably damaging	Het
Cdc123	G	A	2: 5,815,566 (GRCm39)		probably benign	Het
Cldn11	A	T	3: 31,217,278 (GRCm39)	I149F	probably benign	Het
Col14a1	T	C	15: 55,300,429 (GRCm39)	Y986H	unknown	Het
Col6a3	G	A	1: 90,749,605 (GRCm39)	L410F	probably damaging	Het
Crocc	T	C	4: 140,761,282 (GRCm39)		probably null	Het
Cubn	A	G	2: 13,433,374 (GRCm39)		probably benign	Het
Cwc25	G	T	11: 97,644,744 (GRCm39)	Q205K	probably benign	Het
Cyp2e1	T	C	7: 140,350,991 (GRCm39)	I321T	possibly damaging	Het
Eps8l1	T	A	7: 4,473,797 (GRCm39)		probably null	Het
Fasl	C	T	1: 161,609,420 (GRCm39)	V189M	probably damaging	Het
Fbxw5	T	C	2: 25,394,643 (GRCm39)		probably null	Het
Flg2	A	C	3: 93,110,828 (GRCm39)	E952A	unknown	Het
Gpd1l	A	T	9: 114,746,146 (GRCm39)	L90Q	probably damaging	Het
Grik4	G	T	9: 42,509,180 (GRCm39)	F414L	probably benign	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Klhl3	C	T	13: 58,166,611 (GRCm39)	G407S	probably null	Het
Lrp2	T	A	2: 69,343,617 (GRCm39)	H914L	probably damaging	Het
Mrpl20	A	T	4: 155,892,970 (GRCm39)	D67V	probably damaging	Het
Myo15a	A	G	11: 60,378,022 (GRCm39)	T1346A	possibly damaging	Het
Naip5	A	T	13: 100,382,338 (GRCm39)	C124S	probably damaging	Het
Or10ag2	T	A	2: 87,248,801 (GRCm39)	Y134*	probably null	Het
Or13n4	T	C	7: 106,423,245 (GRCm39)	T163A	possibly damaging	Het
Or52u1	T	A	7: 104,237,830 (GRCm39)	V290D	probably damaging	Het
Osbp	A	G	19: 11,956,030 (GRCm39)	D385G	probably benign	Het
Paip1	G	A	13: 119,593,540 (GRCm39)	D460N	probably damaging	Het
Pde3b	T	C	7: 114,093,823 (GRCm39)	S356P	probably benign	Het
Pms2	A	G	5: 143,867,837 (GRCm39)	M814V	probably damaging	Het
Polg	C	A	7: 79,114,576 (GRCm39)	K128N	probably damaging	Het
Polk	G	T	13: 96,620,181 (GRCm39)	T694K	probably benign	Het
Pom121	T	C	5: 135,417,491 (GRCm39)	K342R	unknown	Het
Pou5f2	T	C	13: 78,174,024 (GRCm39)	L322P	probably damaging	Het
Prorp	G	T	12: 55,351,398 (GRCm39)	V236F	possibly damaging	Het
Ptpn6	T	C	6: 124,705,382 (GRCm39)	D183G	probably damaging	Het
Pygb	G	A	2: 150,668,391 (GRCm39)		probably null	Het
Ralgds	C	T	2: 28,442,283 (GRCm39)		probably benign	Het
Ret	T	C	6: 118,130,927 (GRCm39)	T1079A	possibly damaging	Het
Rspo2	A	C	15: 42,885,933 (GRCm39)	V241G	probably benign	Het
Smg1	T	A	7: 117,759,469 (GRCm39)		probably benign	Het
Snph	T	C	2: 151,435,722 (GRCm39)	D402G	probably damaging	Het
Spta1	A	G	1: 174,041,632 (GRCm39)	D1334G	probably benign	Het
Stard13	C	A	5: 151,016,294 (GRCm39)		probably null	Het
Sufu	A	G	19: 46,413,541 (GRCm39)	M141V	probably damaging	Het
Sytl2	T	A	7: 90,057,635 (GRCm39)	V831D	possibly damaging	Het
Tc2n	T	C	12: 101,617,414 (GRCm39)	E335G	possibly damaging	Het
Tex11	C	A	X: 99,977,021 (GRCm39)	A487S	possibly damaging	Het
Tmcc1	T	A	6: 116,020,441 (GRCm39)	H118L	probably damaging	Het
Tulp4	C	T	17: 6,282,055 (GRCm39)	H695Y	probably damaging	Het
Vmn1r209	A	C	13: 22,989,785 (GRCm39)	L302V	probably null	Het
Vmn2r117	C	T	17: 23,679,080 (GRCm39)	V715I	probably benign	Het
Vopp1	A	T	6: 57,766,964 (GRCm39)	Y37*	probably null	Het
Xrn1	A	G	9: 95,863,973 (GRCm39)	T528A	probably benign	Het
Zfhx2	T	C	14: 55,302,662 (GRCm39)	D1774G	probably benign	Het
Zfp955b	T	A	17: 33,521,129 (GRCm39)	D199E	probably benign	Het
Zp2	T	C	7: 119,734,475 (GRCm39)	S525G	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
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
R4857:Lmbr1	UTSW	5	29,528,807 (GRCm39)	missense	probably damaging	0.98
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'- GAGAAACAGGCAGATTTTGATTCTG -3'
(R):5'- TTTACCGAGCTGAAATGTAAGCC -3'

Sequencing Primer
(F):5'- CAGGCAGATTTTGATTCTGTTAACAG -3'
(R):5'- CCGAGCTGAAATGTAAGCCTCATG -3'

Posted On

2016-01-29