Mutagenetix > Incidental Mutation

Incidental Mutation 'R7658:Lim2'

591351

Institutional Source

Beutler Lab

Gene Symbol

Lim2

Ensembl Gene

ENSMUSG00000093639

Gene Name

lens intrinsic membrane protein 2

Synonyms

19kDa, MP19

MMRRC Submission

045703-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.360) question?

Stock #

R7658 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43079523-43085420 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43083054 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 80 (I80F)

Ref Sequence

ENSEMBL: ENSMUSP00000004732 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004732] [ENSMUST00000070518] [ENSMUST00000206741]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000004732
AA Change: I80F

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000004732
Gene: ENSMUSG00000093639
AA Change: I80F

Domain	Start	End	E-Value	Type
Pfam:PMP22_Claudin	1	157	5.5e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000070518

SMART Domains

Protein: ENSMUSP00000068946
Gene: ENSMUSG00000004612

Domain	Start	End	E-Value	Type
Pfam:PMP22_Claudin	6	150	5e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000206741

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an eye lens-specific protein found at the junctions of lens fiber cells, where it may contribute to cell junctional organization. It acts as a receptor for calmodulin, and may play an important role in both lens development and cataractogenesis. Mutations in this gene have been associated with cataract formation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygous mutants exhibit microphthalmia, total lens opacity, disorganized lens fibers, posterior rupturing of lens capsule, and some have vacuolated lens. Heterozygotes exhibit the same dense cataract, but without microphthalmia or lens rupture. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110025L11Rik	G	T	16: 88,860,618 (GRCm39)	S72Y	unknown	Het
Abca8b	T	A	11: 109,826,543 (GRCm39)	K1568N	probably benign	Het
Adcy6	T	A	15: 98,493,948 (GRCm39)	Y865F	probably benign	Het
Adgrf3	A	T	5: 30,402,204 (GRCm39)	V608D	probably benign	Het
Agbl1	G	T	7: 76,416,117 (GRCm39)	A965S	unknown	Het
Agbl3	C	T	6: 34,809,443 (GRCm39)	P690L	probably benign	Het
Akap9	C	G	5: 4,018,745 (GRCm39)	H1109D	probably benign	Het
Amt	A	C	9: 108,174,430 (GRCm39)	H65P	probably damaging	Het
Ankrd11	T	A	8: 123,620,403 (GRCm39)	T1150S	probably benign	Het
Arhgap15	A	C	2: 44,032,280 (GRCm39)	H288P	probably benign	Het
Arhgap39	A	T	15: 76,621,617 (GRCm39)	M328K	probably benign	Het
Arhgef12	T	C	9: 42,903,832 (GRCm39)	K743R	probably damaging	Het
Atg2a	T	G	19: 6,301,293 (GRCm39)	V789G	probably damaging	Het
Ccdc54	T	C	16: 50,410,844 (GRCm39)	T141A	probably benign	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Cdh5	T	C	8: 104,856,033 (GRCm39)		probably null	Het
Cdkl3	T	C	11: 51,918,009 (GRCm39)	V404A	not run	Het
Chrm2	A	T	6: 36,500,184 (GRCm39)	I14F	probably benign	Het
Cnbp	T	C	6: 87,822,258 (GRCm39)	K89E	possibly damaging	Het
Cntn6	T	A	6: 104,627,444 (GRCm39)	D92E	probably benign	Het
Col15a1	T	C	4: 47,245,591 (GRCm39)	F114S	possibly damaging	Het
Csrnp1	A	G	9: 119,801,469 (GRCm39)	F530S	probably benign	Het
Dcun1d3	C	T	7: 119,456,891 (GRCm39)	V274M	probably damaging	Het
Dph2	T	A	4: 117,747,478 (GRCm39)	H302L	possibly damaging	Het
Fam162a	A	T	16: 35,866,770 (GRCm39)	Y118*	probably null	Het
Fam186a	A	G	15: 99,837,725 (GRCm39)	Y2840H	unknown	Het
Fto	A	G	8: 92,392,950 (GRCm39)	K466E	probably benign	Het
Gal	T	A	19: 3,463,309 (GRCm39)	Y41F	probably damaging	Het
Gigyf2	A	T	1: 87,346,860 (GRCm39)	L620F	unknown	Het
Git2	C	T	5: 114,904,550 (GRCm39)	R123H	probably damaging	Het
Glud1	A	T	14: 34,033,114 (GRCm39)	E87V	probably benign	Het
Gm21190	T	G	5: 15,732,923 (GRCm39)	E94A	possibly damaging	Het
Gm5592	T	C	7: 40,938,134 (GRCm39)	V472A	probably benign	Het
Gpc5	T	A	14: 115,665,620 (GRCm39)	N481K	possibly damaging	Het
Gpn2	A	G	4: 133,318,687 (GRCm39)	E304G	probably benign	Het
Gsdmc2	T	C	15: 63,696,903 (GRCm39)	T423A	probably damaging	Het
Gucy2e	G	A	11: 69,117,055 (GRCm39)	Q789*	probably null	Het
Gxylt2	T	A	6: 100,760,104 (GRCm39)	V213E	probably damaging	Het
Ighv1-75	G	A	12: 115,797,731 (GRCm39)	L64F	possibly damaging	Het
Il17re	T	C	6: 113,435,943 (GRCm39)	C30R	probably benign	Het
Il7	G	T	3: 7,669,142 (GRCm39)	D31E	probably benign	Het
Ints4	T	C	7: 97,178,460 (GRCm39)	Y687H	possibly damaging	Het
Kdelr1	T	G	7: 45,532,401 (GRCm39)	V202G	probably benign	Het
Khnyn	C	A	14: 56,124,596 (GRCm39)	Y283*	probably null	Het
Klf11	T	C	12: 24,703,670 (GRCm39)	V52A	probably damaging	Het
Klhl7	A	G	5: 24,346,284 (GRCm39)	N310S	probably benign	Het
Krt27	A	T	11: 99,240,312 (GRCm39)	L202Q	possibly damaging	Het
Lce1d	A	G	3: 92,593,354 (GRCm39)	C20R	unknown	Het
Lrrk2	T	A	15: 91,584,561 (GRCm39)	F326Y	possibly damaging	Het
Lyst	A	T	13: 13,905,061 (GRCm39)	Y3246F	possibly damaging	Het
Mafb	T	A	2: 160,208,355 (GRCm39)	H81L	possibly damaging	Het
Mfsd5	G	A	15: 102,189,312 (GRCm39)	R228H	probably benign	Het
Mmp1b	A	T	9: 7,386,675 (GRCm39)	F150I	possibly damaging	Het
Mthfd1	T	A	12: 76,317,209 (GRCm39)	L20Q	probably damaging	Het
Mxra8	A	G	4: 155,927,420 (GRCm39)	T402A	probably benign	Het
Ndc80	A	T	17: 71,815,658 (GRCm39)	L376M	probably damaging	Het
Nsd1	A	T	13: 55,425,452 (GRCm39)	R1536S	probably damaging	Het
Nup210l	C	A	3: 90,119,300 (GRCm39)	H1874Q	probably benign	Het
Nyap1	T	C	5: 137,731,236 (GRCm39)	H776R	probably benign	Het
Patj	C	A	4: 98,576,416 (GRCm39)	H1773Q	probably damaging	Het
Pax8	T	A	2: 24,326,523 (GRCm39)	T280S	probably benign	Het
Pcdhb19	A	G	18: 37,632,034 (GRCm39)	T610A	probably damaging	Het
Pde2a	A	G	7: 101,160,788 (GRCm39)	D919G	possibly damaging	Het
Pdk2	T	A	11: 94,919,791 (GRCm39)	Y240F	probably damaging	Het
Peg3	A	T	7: 6,712,609 (GRCm39)	I871N	probably damaging	Het
Pex1	A	T	5: 3,646,244 (GRCm39)		probably benign	Het
Pgm2l1	C	T	7: 99,899,535 (GRCm39)	R50W	probably damaging	Het
Phkg1	T	A	5: 129,894,764 (GRCm39)	K262N	probably damaging	Het
Pik3r4	A	G	9: 105,521,710 (GRCm39)	E92G	probably damaging	Het
Prmt6	A	T	3: 110,157,701 (GRCm39)	V196E	possibly damaging	Het
Ptprn2	T	G	12: 116,685,739 (GRCm39)	M66R	probably benign	Het
Rai14	C	T	15: 10,593,189 (GRCm39)	G152R	probably damaging	Het
Recql5	A	T	11: 115,814,102 (GRCm39)	S348T	probably damaging	Het
Rfk	T	G	19: 17,376,046 (GRCm39)		probably null	Het
Ro60	T	C	1: 143,646,611 (GRCm39)	T45A	probably damaging	Het
Selenbp1	A	T	3: 94,851,413 (GRCm39)	M389L	probably benign	Het
Sipa1l2	G	A	8: 126,219,029 (GRCm39)	R103C	probably benign	Het
Slc10a6	T	A	5: 103,777,056 (GRCm39)	S15C	probably damaging	Het
Slc12a2	G	T	18: 58,065,596 (GRCm39)	V944L	probably benign	Het
Slc16a11	T	A	11: 70,106,143 (GRCm39)	L127Q	possibly damaging	Het
Spef1l	T	C	7: 139,556,531 (GRCm39)	N152S	probably benign	Het
St6gal1	A	G	16: 23,174,978 (GRCm39)	Y272C	probably damaging	Het
Stab2	C	A	10: 86,816,999 (GRCm39)	V133F	probably benign	Het
Stradb	G	A	1: 59,031,885 (GRCm39)	V266I	probably damaging	Het
Tmem150b	A	G	7: 4,723,758 (GRCm39)	W140R	probably benign	Het
Tnnt3	A	T	7: 142,065,833 (GRCm39)	K157*	probably null	Het
Ttn	T	G	2: 76,554,113 (GRCm39)	K30863N	probably damaging	Het
Vldlr	G	A	19: 27,220,536 (GRCm39)	R592H	probably benign	Het
Vmn1r12	A	T	6: 57,135,883 (GRCm39)		probably benign	Het
Vmn2r63	A	C	7: 42,574,693 (GRCm39)	S519R	probably damaging	Het
Zbtb22	G	C	17: 34,137,471 (GRCm39)	E539Q	probably damaging	Het
Zbtb44	G	A	9: 30,965,375 (GRCm39)	A262T	probably benign	Het
Zfp280d	A	T	9: 72,231,354 (GRCm39)	N455I	probably damaging	Het
Zfp287	T	C	11: 62,616,089 (GRCm39)	N201D	probably damaging	Het
Zfp988	T	C	4: 147,416,751 (GRCm39)	L395P	probably damaging	Het

Other mutations in Lim2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03166:Lim2	APN	7	43,080,047 (GRCm39)	nonsense	probably null
R0771:Lim2	UTSW	7	43,080,127 (GRCm39)	missense	possibly damaging	0.47
R1006:Lim2	UTSW	7	43,084,826 (GRCm39)	missense	probably damaging	1.00
R4693:Lim2	UTSW	7	43,080,105 (GRCm39)	missense	probably damaging	1.00
R6194:Lim2	UTSW	7	43,085,086 (GRCm39)	missense	probably damaging	1.00
R6723:Lim2	UTSW	7	43,085,099 (GRCm39)	missense	probably benign
R8899:Lim2	UTSW	7	43,083,055 (GRCm39)	missense	probably benign	0.35

Predicted Primers

PCR Primer
(F):5'- CTTCACGAGGCCTATGGAAC -3'
(R):5'- CAAAGAGGTCAGTGGTGCTG -3'

Sequencing Primer
(F):5'- GGTCACAGTCAGAACGATGCTTC -3'
(R):5'- TGCTGGGTCTAGGGATGAGAGAG -3'

Posted On

2019-11-12