Mutagenetix > Incidental Mutation

Incidental Mutation 'R5841:Lmbrd2'

450464

Institutional Source

Beutler Lab

Gene Symbol

Lmbrd2

Ensembl Gene

ENSMUSG00000039704

Gene Name

LMBR1 domain containing 2

Synonyms

9930036E21Rik

MMRRC Submission

044061-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.152) question?

Stock #

R5841 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

9140637-9202569 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 9182657 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 576 (K576E)

Ref Sequence

ENSEMBL: ENSMUSP00000154020 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090380] [ENSMUST00000227556]

AlphaFold

Q8C561

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090380
AA Change: K531E

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000087858
Gene: ENSMUSG00000039704
AA Change: K531E

Domain	Start	End	E-Value	Type
Pfam:LMBR1	8	546	4.2e-192	PFAM
low complexity region	574	598	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227216

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227556
AA Change: K576E

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

Meta Mutation Damage Score

0.1901

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

100% (67/67)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb6	A	T	1: 75,150,994 (GRCm39)	F565L	possibly damaging	Het
Abhd6	T	A	14: 8,049,596 (GRCm38)	V188D	probably benign	Het
Bbs12	T	G	3: 37,373,670 (GRCm39)	N39K	probably benign	Het
Bend5	A	G	4: 111,290,667 (GRCm39)	Y221C	probably damaging	Het
Brd8	A	G	18: 34,738,576 (GRCm39)	S683P	probably damaging	Het
Caskin1	A	G	17: 24,715,183 (GRCm39)	D79G	probably damaging	Het
Cdyl	T	C	13: 36,056,544 (GRCm39)	L509P	probably damaging	Het
Cenpf	G	T	1: 189,389,641 (GRCm39)	T1397N	possibly damaging	Het
Ckap5	T	A	2: 91,431,027 (GRCm39)	M1479K	probably benign	Het
Cpsf2	T	C	12: 101,951,497 (GRCm39)	S145P	probably damaging	Het
Cyp4a12a	A	T	4: 115,183,899 (GRCm39)	H235L	probably benign	Het
Cyp7b1	A	T	3: 18,151,670 (GRCm39)	F181Y	probably damaging	Het
Dennd5b	T	C	6: 148,946,253 (GRCm39)	T453A	probably benign	Het
Dlgap3	A	G	4: 127,089,193 (GRCm39)	D263G	probably damaging	Het
Dnah3	TTCCTC	TTC	7: 119,550,244 (GRCm39)		probably benign	Het
Dync2li1	G	A	17: 84,940,990 (GRCm39)	G69R	probably damaging	Het
Edc3	T	C	9: 57,651,885 (GRCm39)	V331A	probably benign	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Ganc	C	T	2: 120,242,020 (GRCm39)	T66I	possibly damaging	Het
Gm11595	C	A	11: 99,663,143 (GRCm39)	C179F	unknown	Het
Gnptg	A	G	17: 25,454,391 (GRCm39)	S159P	probably damaging	Het
Gsdmc2	C	T	15: 63,698,059 (GRCm39)	V349I	probably benign	Het
Hydin	T	C	8: 111,259,846 (GRCm39)	I2606T	possibly damaging	Het
Ino80d	A	G	1: 63,097,999 (GRCm39)	S632P	probably damaging	Het
Kcnn2	G	A	18: 45,692,463 (GRCm39)	R13H	probably benign	Het
Klb	A	T	5: 65,536,667 (GRCm39)	K666*	probably null	Het
Kmt2d	G	A	15: 98,749,990 (GRCm39)		probably benign	Het
Kpna7	T	C	5: 144,930,766 (GRCm39)	I360V	possibly damaging	Het
Lrp2	T	A	2: 69,310,497 (GRCm39)	Y2692F	probably benign	Het
Meis2	T	A	2: 115,889,145 (GRCm39)	E202D	probably benign	Het
Mgat4c	A	T	10: 102,224,826 (GRCm39)	T347S	probably damaging	Het
Mmp12	G	A	9: 7,347,501 (GRCm39)	C26Y	possibly damaging	Het
Mrpl24	G	A	3: 87,830,292 (GRCm39)	R145Q	probably damaging	Het
Mtpn	C	T	6: 35,489,225 (GRCm39)	D100N	probably benign	Het
Mycbpap	T	A	11: 94,396,436 (GRCm39)	R135W	probably damaging	Het
Myo1g	T	A	11: 6,457,000 (GRCm39)	Y942F	probably benign	Het
Myrf	T	C	19: 10,200,911 (GRCm39)	K52R	probably null	Het
Ncf2	A	T	1: 152,697,269 (GRCm39)		silent	Het
Nherf2	A	T	17: 24,863,851 (GRCm39)	M8K	probably benign	Het
Or51f1e	T	C	7: 102,747,161 (GRCm39)	F71S	probably damaging	Het
Otx1	T	C	11: 21,948,594 (GRCm39)		probably benign	Het
Pcnx1	T	A	12: 81,965,429 (GRCm39)	V532D	possibly damaging	Het
Pik3r5	T	C	11: 68,383,096 (GRCm39)	L305P	probably damaging	Het
Pira13	T	A	7: 3,825,898 (GRCm39)	R324*	probably null	Het
Polr3a	A	T	14: 24,500,766 (GRCm39)	C1341S	probably benign	Het
Ppp1r3a	T	C	6: 14,718,983 (GRCm39)	T644A	probably benign	Het
Pramel22	A	G	4: 143,382,109 (GRCm39)	S196P	possibly damaging	Het
Ptbp1	A	G	10: 79,695,766 (GRCm39)	D289G	probably benign	Het
Pwp2	A	G	10: 78,007,952 (GRCm39)	F868L	probably benign	Het
Rgs8	A	G	1: 153,568,574 (GRCm39)	E153G	probably damaging	Het
Rhbdf2	G	A	11: 116,493,180 (GRCm39)		probably benign	Het
Sbf1	T	C	15: 89,192,271 (GRCm39)	H78R	probably damaging	Het
Sdr16c6	C	T	4: 4,062,728 (GRCm39)	A197T	possibly damaging	Het
Slc36a3	A	T	11: 55,016,547 (GRCm39)	Y349*	probably null	Het
Slc38a9	T	C	13: 112,831,856 (GRCm39)	L202P	possibly damaging	Het
Slc40a1	A	T	1: 45,951,509 (GRCm39)	M216K	probably damaging	Het
Srebf1	T	A	11: 60,094,410 (GRCm39)	Q568H	possibly damaging	Het
Srp54b	A	G	12: 55,299,614 (GRCm39)	N315S	probably benign	Het
Strc	A	G	2: 121,196,358 (GRCm39)	F1557L	probably benign	Het
Susd3	C	A	13: 49,392,202 (GRCm39)		probably benign	Het
Usp54	G	A	14: 20,600,351 (GRCm39)	T1462I	probably benign	Het
Vmn1r11	T	A	6: 57,114,787 (GRCm39)	N150K	probably damaging	Het
Vwa8	C	T	14: 79,231,958 (GRCm39)	H606Y	probably benign	Het
Zmym6	A	G	4: 126,994,463 (GRCm39)	I206V	possibly damaging	Het

Other mutations in Lmbrd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00586:Lmbrd2	APN	15	9,157,382 (GRCm39)	missense	probably damaging	1.00
IGL00864:Lmbrd2	APN	15	9,175,297 (GRCm39)	missense	probably damaging	1.00
IGL01554:Lmbrd2	APN	15	9,165,906 (GRCm39)	missense	possibly damaging	0.96
IGL02142:Lmbrd2	APN	15	9,186,772 (GRCm39)	missense	probably damaging	1.00
IGL02176:Lmbrd2	APN	15	9,182,661 (GRCm39)	missense	probably damaging	1.00
IGL02293:Lmbrd2	APN	15	9,172,276 (GRCm39)	missense	probably benign
IGL02692:Lmbrd2	APN	15	9,149,155 (GRCm39)	missense	possibly damaging	0.94
IGL03101:Lmbrd2	APN	15	9,186,695 (GRCm39)	missense	probably damaging	1.00
R0102:Lmbrd2	UTSW	15	9,184,039 (GRCm39)	missense	probably damaging	1.00
R0370:Lmbrd2	UTSW	15	9,165,939 (GRCm39)	missense	probably damaging	0.97
R0379:Lmbrd2	UTSW	15	9,149,566 (GRCm39)	missense	probably benign	0.00
R0513:Lmbrd2	UTSW	15	9,194,816 (GRCm39)	missense	probably damaging	1.00
R1610:Lmbrd2	UTSW	15	9,186,699 (GRCm39)	missense	probably benign	0.19
R1628:Lmbrd2	UTSW	15	9,182,593 (GRCm39)	missense	probably damaging	1.00
R1844:Lmbrd2	UTSW	15	9,177,838 (GRCm39)	nonsense	probably null
R2422:Lmbrd2	UTSW	15	9,194,852 (GRCm39)	missense	possibly damaging	0.83
R3614:Lmbrd2	UTSW	15	9,177,798 (GRCm39)	missense	probably damaging	1.00
R3924:Lmbrd2	UTSW	15	9,149,624 (GRCm39)	missense	probably benign
R4014:Lmbrd2	UTSW	15	9,151,672 (GRCm39)	splice site	probably benign
R4298:Lmbrd2	UTSW	15	9,165,882 (GRCm39)	missense	possibly damaging	0.92
R5126:Lmbrd2	UTSW	15	9,194,788 (GRCm39)	missense	possibly damaging	0.91
R5699:Lmbrd2	UTSW	15	9,175,269 (GRCm39)	missense	probably benign	0.40
R5974:Lmbrd2	UTSW	15	9,172,202 (GRCm39)	missense	probably benign	0.25
R5988:Lmbrd2	UTSW	15	9,182,493 (GRCm39)	splice site	probably null
R6179:Lmbrd2	UTSW	15	9,149,262 (GRCm39)	missense	probably damaging	0.99
R6666:Lmbrd2	UTSW	15	9,151,656 (GRCm39)	missense	probably benign	0.06
R7180:Lmbrd2	UTSW	15	9,175,283 (GRCm39)	missense	possibly damaging	0.90
R7269:Lmbrd2	UTSW	15	9,194,771 (GRCm39)	missense	probably damaging	1.00
R7341:Lmbrd2	UTSW	15	9,165,906 (GRCm39)	missense	possibly damaging	0.96
R8017:Lmbrd2	UTSW	15	9,172,317 (GRCm39)	missense	probably benign	0.00
R8066:Lmbrd2	UTSW	15	9,172,172 (GRCm39)	missense	probably benign	0.35
R8110:Lmbrd2	UTSW	15	9,175,279 (GRCm39)	missense	probably damaging	1.00
R8393:Lmbrd2	UTSW	15	9,178,437 (GRCm39)	missense	probably damaging	1.00
R8401:Lmbrd2	UTSW	15	9,156,294 (GRCm39)	missense	possibly damaging	0.85
R8922:Lmbrd2	UTSW	15	9,172,231 (GRCm39)	missense	probably damaging	1.00
R9009:Lmbrd2	UTSW	15	9,157,311 (GRCm39)	missense	possibly damaging	0.92
R9434:Lmbrd2	UTSW	15	9,157,314 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- TCTGGGGCTGACAGTGGTAAAG -3'
(R):5'- GCAGATTCACTACTAATGGATGC -3'

Sequencing Primer
(F):5'- TAGTTTGGGCACCCGTT -3'
(R):5'- TGGATGCTACAGAATTTCCTCAC -3'

Posted On

2016-12-20