Mutagenetix > Incidental Mutation

Incidental Mutation 'R7085:Lmbr1'

568534

Institutional Source

Beutler Lab

Gene Symbol

Lmbr1

Ensembl Gene

ENSMUSG00000010721

Gene Name

limb region 1

Synonyms

1110048D14Rik, C79130

MMRRC Submission

045179-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7085 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29434800-29583414 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 29566090 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143316 (fasta)

Gene Model

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

AlphaFold

Q9JIT0

Predicted Effect

probably null
Transcript: ENSMUST00000055195

SMART Domains

Protein: ENSMUSP00000058405
Gene: ENSMUSG00000010721

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 null
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

probably null
Transcript: ENSMUST00000196321

SMART Domains

Protein: ENSMUSP00000143348
Gene: ENSMUSG00000010721

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

Predicted Effect

probably null
Transcript: ENSMUST00000198105

SMART Domains

Protein: ENSMUSP00000142755
Gene: ENSMUSG00000010721

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

Predicted Effect

probably null
Transcript: ENSMUST00000200564

SMART Domains

Protein: ENSMUSP00000143316
Gene: ENSMUSG00000010721

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

95% (75/79)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	T	C	10: 29,100,476 (GRCm39)	L283P	probably damaging	Het
Abhd18	T	C	3: 40,871,344 (GRCm39)	M132T	possibly damaging	Het
Afap1l1	A	G	18: 61,881,885 (GRCm39)	V270A	possibly damaging	Het
Ankrd34a	A	T	3: 96,505,945 (GRCm39)	Q383L	probably benign	Het
Atp8b5	A	G	4: 43,361,835 (GRCm39)	D627G	probably damaging	Het
Atrnl1	T	A	19: 57,680,289 (GRCm39)	C730S	probably damaging	Het
Bclaf1	T	C	10: 20,197,768 (GRCm39)	S4P	unknown	Het
Blzf1	T	C	1: 164,129,893 (GRCm39)	D153G	probably damaging	Het
Btaf1	T	C	19: 36,950,318 (GRCm39)	V516A	probably benign	Het
C1qa	T	C	4: 136,625,091 (GRCm39)	T20A	probably benign	Het
Cacna1e	A	T	1: 154,349,492 (GRCm39)		probably null	Het
Cfd	T	G	10: 79,728,326 (GRCm39)	V229G	probably damaging	Het
Chd3	T	A	11: 69,260,027 (GRCm39)	H64L	unknown	Het
Cntn3	A	G	6: 102,142,362 (GRCm39)	S1002P	possibly damaging	Het
Cntrl	T	A	2: 35,055,804 (GRCm39)	C1786S	probably benign	Het
Cpa1	A	G	6: 30,643,619 (GRCm39)	D355G	probably benign	Het
D130043K22Rik	T	C	13: 25,056,285 (GRCm39)	V539A	possibly damaging	Het
Ddx1	A	C	12: 13,279,356 (GRCm39)	W428G	probably damaging	Het
Ddx49	G	A	8: 70,755,133 (GRCm39)		probably benign	Het
Dnhd1	T	A	7: 105,364,468 (GRCm39)	V4207E	probably benign	Het
Dock3	A	G	9: 106,779,086 (GRCm39)	S288P	probably damaging	Het
Drap1	G	A	19: 5,474,815 (GRCm39)		probably benign	Het
Ecm2	G	A	13: 49,674,378 (GRCm39)	R266K	probably damaging	Het
Emilin2	A	G	17: 71,581,100 (GRCm39)	L542S	probably damaging	Het
Evx1	T	C	6: 52,293,677 (GRCm39)	Y282H	possibly damaging	Het
Fbxo44	T	A	4: 148,243,200 (GRCm39)	H20L	probably damaging	Het
Flot2	G	T	11: 77,948,900 (GRCm39)	A292S	possibly damaging	Het
Fry	A	G	5: 150,362,214 (GRCm39)	I2161V	probably benign	Het
Gli3	T	C	13: 15,889,647 (GRCm39)	F587S	probably damaging	Het
Gm49368	A	G	7: 127,726,029 (GRCm39)	D1147G	unknown	Het
Gprc5b	A	T	7: 118,582,855 (GRCm39)	M338K	probably damaging	Het
H1f11-ps	A	G	19: 47,159,101 (GRCm39)	V158A	unknown	Het
Hacd3	A	C	9: 64,905,525 (GRCm39)	N204K	probably damaging	Het
Hsd3b9	T	C	3: 98,357,710 (GRCm39)	N101D	probably damaging	Het
Hydin	A	G	8: 111,329,962 (GRCm39)	T4899A	probably benign	Het
Ido2	T	A	8: 25,048,212 (GRCm39)	R49S	probably benign	Het
Igsf3	C	A	3: 101,362,805 (GRCm39)	T942K	probably benign	Het
Kank4	T	A	4: 98,668,183 (GRCm39)	Q88L	probably benign	Het
Krtap16-1	T	A	11: 99,877,111 (GRCm39)	I98F	possibly damaging	Het
Laptm4a	T	C	12: 8,972,113 (GRCm39)	V52A	probably benign	Het
Lnx1	G	A	5: 74,788,846 (GRCm39)	S31F	possibly damaging	Het
Mafa	G	T	15: 75,619,536 (GRCm39)	A79E	unknown	Het
Me2	A	T	18: 73,914,129 (GRCm39)	N467K	probably damaging	Het
Med23	T	A	10: 24,746,019 (GRCm39)	L8Q	probably damaging	Het
Muc16	T	A	9: 18,556,145 (GRCm39)	I3383F	unknown	Het
Nbas	G	T	12: 13,335,259 (GRCm39)	S151I	probably damaging	Het
Or10ag60	T	A	2: 87,437,750 (GRCm39)	I6N	probably benign	Het
Or10d5j	C	A	9: 39,867,808 (GRCm39)	C141F	probably damaging	Het
Or13c25	C	T	4: 52,910,961 (GRCm39)	A278T	probably benign	Het
Or6k6	T	A	1: 173,945,226 (GRCm39)	I119F	probably damaging	Het
Or7d11	G	A	9: 19,966,232 (GRCm39)	H58Y	probably benign	Het
Piezo1	A	G	8: 123,217,633 (GRCm39)	V1305A		Het
Plcb3	T	C	19: 6,937,501 (GRCm39)	E639G	possibly damaging	Het
Polr2a	A	G	11: 69,634,706 (GRCm39)	L658P	probably damaging	Het
Prag1	A	T	8: 36,571,391 (GRCm39)	Q658L	possibly damaging	Het
Prex2	A	T	1: 11,168,812 (GRCm39)	R269S	possibly damaging	Het
Reln	C	A	5: 22,120,085 (GRCm39)	G2856*	probably null	Het
Rsph10b	A	T	5: 143,886,102 (GRCm39)	T267S	possibly damaging	Het
Rtn4rl1	A	G	11: 75,156,050 (GRCm39)	I161V	probably benign	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Sbno1	G	A	5: 124,519,783 (GRCm39)	P1165L	possibly damaging	Het
Scn3b	T	C	9: 40,188,394 (GRCm39)	V29A	probably damaging	Het
Sh3d21	T	A	4: 126,056,884 (GRCm39)	T13S	probably benign	Het
Shisal2b	G	T	13: 104,994,814 (GRCm39)	T111K	probably benign	Het
Slc22a22	G	A	15: 57,113,045 (GRCm39)	T398I	probably benign	Het
Slc40a1	T	A	1: 45,950,688 (GRCm39)	T255S	probably benign	Het
Smchd1	A	T	17: 71,672,214 (GRCm39)		probably null	Het
Soat1	A	T	1: 156,259,901 (GRCm39)	V480D	probably damaging	Het
Spata31e2	A	G	1: 26,722,546 (GRCm39)	L878P	possibly damaging	Het
Supt5	T	A	7: 28,030,914 (GRCm39)	E39V	unknown	Het
Tapbpl	T	C	6: 125,203,451 (GRCm39)		probably null	Het
Tdpoz7	T	A	3: 93,979,939 (GRCm39)	M5L	probably benign	Het
Tlr11	A	T	14: 50,600,113 (GRCm39)	I700F	probably damaging	Het
Tmc3	A	T	7: 83,271,353 (GRCm39)	K864M	possibly damaging	Het
Tns1	G	A	1: 73,964,621 (GRCm39)	P81S	probably benign	Het
Tspan2	C	A	3: 102,668,270 (GRCm39)	L168I	probably benign	Het
Unc13d	C	A	11: 115,955,633 (GRCm39)	S885I	probably benign	Het
Unc45a	A	T	7: 79,976,082 (GRCm39)	M799K	possibly damaging	Het
Usp34	A	G	11: 23,313,097 (GRCm39)	D547G		Het
Vps33b	A	G	7: 79,925,837 (GRCm39)	I95V	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
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
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'- TGCCACGCTCAGCTTGAATAAG -3'
(R):5'- ACCAATCAGTTAAGCAGCATTTCTC -3'

Sequencing Primer
(F):5'- TTCGAGGTCAGCCAGGACTATAC -3'
(R):5'- CAGTTAAGCAGCATTTCTCAAAAG -3'

Posted On

2019-08-16