Mutagenetix > Incidental Mutation

Incidental Mutation 'R0108:Frem2'

17833

Institutional Source

Beutler Lab

Gene Symbol

Frem2

Ensembl Gene

ENSMUSG00000037016

Gene Name

Fras1 related extracellular matrix protein 2

Synonyms

8430406N05Rik, ne, 6030440P17Rik, b2b1562Clo, my

MMRRC Submission

038394-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0108 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

53421359-53564776 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 53555382 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1718 (D1718E)

Ref Sequence

ENSEMBL: ENSMUSP00000088670 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091137]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000091137
AA Change: D1718E

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000088670
Gene: ENSMUSG00000037016
AA Change: D1718E

Domain	Start	End	E-Value	Type
signal peptide	1	39	N/A	INTRINSIC
Pfam:Cadherin_3	249	388	4.3e-9	PFAM
Pfam:Cadherin_3	376	532	3e-34	PFAM
Pfam:Cadherin_3	516	665	7.5e-24	PFAM
Pfam:Cadherin_3	632	798	1.6e-21	PFAM
Pfam:Cadherin_3	763	910	1.2e-25	PFAM
Pfam:Cadherin_3	879	1027	5.1e-18	PFAM
Pfam:Cadherin_3	1015	1159	2.2e-20	PFAM
CA	1202	1293	4.8e-1	SMART
Pfam:Cadherin_3	1392	1503	9.8e-24	PFAM
Pfam:Cadherin_3	1504	1612	6.2e-28	PFAM
Pfam:Cadherin_3	1613	1743	5.3e-20	PFAM
Calx_beta	1748	1847	1.5e-5	SMART
Calx_beta	1860	1971	9.47e-12	SMART
Calx_beta	1985	2092	1.65e-11	SMART
Calx_beta	2105	2209	1.99e-5	SMART
Calx_beta	2227	2331	6.9e-14	SMART
transmembrane domain	3103	3125	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199323

Meta Mutation Damage Score

0.0741

Coding Region Coverage

1x: 87.1%
3x: 81.7%
10x: 58.7%
20x: 25.7%

Validation Efficiency

90% (92/102)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an integral membrane protein containing numerous CSPG (chondroitin sulfate proteoglycan element) repeats and Calx-beta domains. The encoded protein localizes to the basement membrane, forming a ternary complex that plays a role in epidermal-dermal interactions. This protein is important for the integrity of skin and renal epithelia. Mutations in this gene are associated with Fraser syndrome. [provided by RefSeq, Apr 2014]
PHENOTYPE: Mice homozygous for mutations at this locus display a significant amount of embryonic lethality due to hemorrhaging of embryonic blisters. Kidney development is severely affected and syndactyly is common. Phenotypes of homozygous mutants are indistinguishable from those of Fras1 homozygous mutant. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,224,692 (GRCm39)	N910K	probably benign	Het
Ackr4	T	A	9: 103,976,387 (GRCm39)	I187F	probably benign	Het
Adamts12	T	C	15: 11,311,184 (GRCm39)	V1147A	probably benign	Het
Adcy2	A	T	13: 68,800,054 (GRCm39)	V858E	probably damaging	Het
Adgrv1	A	G	13: 81,726,523 (GRCm39)		probably benign	Het
Atg4c	C	T	4: 99,109,677 (GRCm39)	H215Y	possibly damaging	Het
Ccdc88a	T	A	11: 29,453,463 (GRCm39)	S337T	probably damaging	Het
Evpl	T	C	11: 116,111,702 (GRCm39)	E1996G	probably damaging	Het
Fbxw10	A	G	11: 62,767,887 (GRCm39)	T903A	probably benign	Het
Gatad2b	T	A	3: 90,265,250 (GRCm39)	Y576N	probably damaging	Het
Gm136	G	T	4: 34,746,593 (GRCm39)	H139Q	possibly damaging	Het
Helq	C	A	5: 100,916,234 (GRCm39)	E913*	probably null	Het
Itgb7	C	T	15: 102,131,917 (GRCm39)	R222H	probably damaging	Het
Lmtk2	C	T	5: 144,111,103 (GRCm39)	R608C	possibly damaging	Het
Lonp2	G	A	8: 87,442,983 (GRCm39)	V815I	probably benign	Het
Mpdz	C	T	4: 81,300,042 (GRCm39)	V319I	probably damaging	Het
Ntng1	T	C	3: 109,759,071 (GRCm39)		probably benign	Het
Nup210l	A	G	3: 90,096,882 (GRCm39)	T1364A	probably damaging	Het
Or10q1b	A	T	19: 13,683,042 (GRCm39)	T284S	probably damaging	Het
Pcdha1	T	A	18: 37,131,809 (GRCm39)	W293R	probably benign	Het
Plcl1	A	G	1: 55,737,098 (GRCm39)	Y813C	possibly damaging	Het
Plekho2	A	T	9: 65,466,705 (GRCm39)	D128E	probably damaging	Het
Pstpip1	A	G	9: 56,035,050 (GRCm39)	E341G	probably benign	Het
Rps6ka2	G	A	17: 7,563,442 (GRCm39)	D617N	probably benign	Het
Scin	A	G	12: 40,177,986 (GRCm39)	V83A	possibly damaging	Het
Sec11a	A	G	7: 80,584,787 (GRCm39)	V50A	probably damaging	Het
Sel1l3	C	T	5: 53,295,244 (GRCm39)	A786T	possibly damaging	Het
Shroom1	T	C	11: 53,357,764 (GRCm39)	S772P	possibly damaging	Het
Slc30a5	G	T	13: 100,939,908 (GRCm39)	A669E	probably damaging	Het
Tm6sf1	G	A	7: 81,515,093 (GRCm39)		probably null	Het
Ttll4	G	T	1: 74,718,928 (GRCm39)	V260L	probably benign	Het
Zfand3	A	G	17: 30,354,372 (GRCm39)	E63G	probably damaging	Het

Other mutations in Frem2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00895:Frem2	APN	3	53,493,016 (GRCm39)	missense	probably damaging	1.00
IGL00911:Frem2	APN	3	53,479,883 (GRCm39)	missense	probably damaging	1.00
IGL01322:Frem2	APN	3	53,448,459 (GRCm39)	missense	probably benign	0.00
IGL01330:Frem2	APN	3	53,562,662 (GRCm39)	missense	possibly damaging	0.70
IGL01406:Frem2	APN	3	53,433,317 (GRCm39)	missense	probably damaging	1.00
IGL01556:Frem2	APN	3	53,442,702 (GRCm39)	missense	probably benign	0.23
IGL01580:Frem2	APN	3	53,562,596 (GRCm39)	missense	probably damaging	1.00
IGL01606:Frem2	APN	3	53,561,012 (GRCm39)	missense	possibly damaging	0.69
IGL01611:Frem2	APN	3	53,563,130 (GRCm39)	missense	probably benign	0.00
IGL01648:Frem2	APN	3	53,443,153 (GRCm39)	missense	possibly damaging	0.86
IGL01663:Frem2	APN	3	53,424,434 (GRCm39)	missense	probably damaging	1.00
IGL01665:Frem2	APN	3	53,457,083 (GRCm39)	missense	probably benign	0.07
IGL01670:Frem2	APN	3	53,564,358 (GRCm39)	missense	possibly damaging	0.95
IGL01960:Frem2	APN	3	53,429,725 (GRCm39)	missense	probably benign	0.33
IGL02175:Frem2	APN	3	53,563,020 (GRCm39)	missense	possibly damaging	0.69
IGL02201:Frem2	APN	3	53,427,061 (GRCm39)	missense	probably benign	0.35
IGL02202:Frem2	APN	3	53,562,220 (GRCm39)	missense	probably benign	0.00
IGL02427:Frem2	APN	3	53,443,184 (GRCm39)	missense	probably damaging	0.97
IGL02457:Frem2	APN	3	53,428,470 (GRCm39)	missense	probably damaging	0.99
IGL02638:Frem2	APN	3	53,458,767 (GRCm39)	missense	possibly damaging	0.94
IGL02801:Frem2	APN	3	53,559,596 (GRCm39)	missense	possibly damaging	0.85
IGL03023:Frem2	APN	3	53,563,049 (GRCm39)	missense	probably benign	0.40
IGL03169:Frem2	APN	3	53,429,713 (GRCm39)	missense	probably benign	0.01
IGL03238:Frem2	APN	3	53,563,682 (GRCm39)	missense	possibly damaging	0.93
IGL03251:Frem2	APN	3	53,479,729 (GRCm39)	missense	probably benign	0.01
IGL03273:Frem2	APN	3	53,444,930 (GRCm39)	nonsense	probably null
IGL03343:Frem2	APN	3	53,559,674 (GRCm39)	missense	probably damaging	1.00
Biosimilar	UTSW	3	53,561,744 (GRCm39)	missense	probably benign	0.01
Fruit_stripe	UTSW	3	53,444,910 (GRCm39)	missense	probably benign	0.21
PIT4366001:Frem2	UTSW	3	53,560,622 (GRCm39)	missense	probably damaging	0.98
R0019:Frem2	UTSW	3	53,431,099 (GRCm39)	missense	probably damaging	0.99
R0092:Frem2	UTSW	3	53,497,217 (GRCm39)	missense	probably benign	0.03
R0115:Frem2	UTSW	3	53,563,629 (GRCm39)	missense	probably damaging	0.99
R0118:Frem2	UTSW	3	53,442,664 (GRCm39)	nonsense	probably null
R0374:Frem2	UTSW	3	53,561,381 (GRCm39)	missense	probably damaging	1.00
R0437:Frem2	UTSW	3	53,560,436 (GRCm39)	missense	possibly damaging	0.96
R0531:Frem2	UTSW	3	53,427,375 (GRCm39)	missense	probably damaging	1.00
R0555:Frem2	UTSW	3	53,424,281 (GRCm39)	missense	probably damaging	0.97
R0564:Frem2	UTSW	3	53,563,530 (GRCm39)	missense	probably damaging	0.97
R0586:Frem2	UTSW	3	53,555,342 (GRCm39)	missense	probably damaging	0.99
R0726:Frem2	UTSW	3	53,427,047 (GRCm39)	missense	possibly damaging	0.89
R0925:Frem2	UTSW	3	53,561,394 (GRCm39)	missense	probably benign
R1233:Frem2	UTSW	3	53,455,199 (GRCm39)	missense	probably damaging	0.98
R1302:Frem2	UTSW	3	53,562,959 (GRCm39)	missense	probably benign	0.00
R1333:Frem2	UTSW	3	53,457,152 (GRCm39)	missense	probably benign	0.26
R1446:Frem2	UTSW	3	53,562,017 (GRCm39)	missense	probably benign	0.31
R1523:Frem2	UTSW	3	53,562,828 (GRCm39)	missense	possibly damaging	0.73
R1539:Frem2	UTSW	3	53,561,631 (GRCm39)	missense	probably benign	0.19
R1543:Frem2	UTSW	3	53,479,876 (GRCm39)	missense	possibly damaging	0.86
R1597:Frem2	UTSW	3	53,561,940 (GRCm39)	missense	probably benign	0.19
R1600:Frem2	UTSW	3	53,455,144 (GRCm39)	missense	probably damaging	1.00
R1678:Frem2	UTSW	3	53,427,359 (GRCm39)	missense	probably damaging	1.00
R1687:Frem2	UTSW	3	53,561,373 (GRCm39)	missense	probably benign
R1696:Frem2	UTSW	3	53,563,463 (GRCm39)	nonsense	probably null
R1758:Frem2	UTSW	3	53,560,778 (GRCm39)	missense	probably damaging	1.00
R1857:Frem2	UTSW	3	53,562,294 (GRCm39)	missense	probably benign	0.10
R1869:Frem2	UTSW	3	53,442,617 (GRCm39)	missense	probably benign	0.04
R1921:Frem2	UTSW	3	53,560,916 (GRCm39)	missense	possibly damaging	0.76
R1973:Frem2	UTSW	3	53,559,653 (GRCm39)	missense	probably benign	0.01
R2045:Frem2	UTSW	3	53,443,165 (GRCm39)	missense	probably damaging	1.00
R2113:Frem2	UTSW	3	53,560,343 (GRCm39)	missense	probably damaging	1.00
R2152:Frem2	UTSW	3	53,424,450 (GRCm39)	nonsense	probably null
R2164:Frem2	UTSW	3	53,444,751 (GRCm39)	missense	probably damaging	1.00
R2181:Frem2	UTSW	3	53,482,008 (GRCm39)	missense	possibly damaging	0.72
R2201:Frem2	UTSW	3	53,423,994 (GRCm39)	missense	probably benign
R2221:Frem2	UTSW	3	53,424,278 (GRCm39)	missense	probably benign	0.00
R2255:Frem2	UTSW	3	53,559,935 (GRCm39)	missense	probably damaging	0.96
R2280:Frem2	UTSW	3	53,479,844 (GRCm39)	missense	probably damaging	1.00
R3196:Frem2	UTSW	3	53,444,752 (GRCm39)	missense	probably damaging	1.00
R3716:Frem2	UTSW	3	53,479,781 (GRCm39)	missense	probably damaging	1.00
R3807:Frem2	UTSW	3	53,560,870 (GRCm39)	missense	probably benign	0.22
R3820:Frem2	UTSW	3	53,424,270 (GRCm39)	missense	probably damaging	1.00
R3821:Frem2	UTSW	3	53,559,836 (GRCm39)	missense	probably damaging	1.00
R3977:Frem2	UTSW	3	53,559,491 (GRCm39)	missense	probably benign	0.00
R3979:Frem2	UTSW	3	53,559,491 (GRCm39)	missense	probably benign	0.00
R4014:Frem2	UTSW	3	53,559,774 (GRCm39)	missense	probably benign	0.01
R4127:Frem2	UTSW	3	53,433,317 (GRCm39)	missense	probably damaging	1.00
R4195:Frem2	UTSW	3	53,446,689 (GRCm39)	missense	possibly damaging	0.90
R4196:Frem2	UTSW	3	53,446,689 (GRCm39)	missense	possibly damaging	0.90
R4374:Frem2	UTSW	3	53,452,923 (GRCm39)	missense	possibly damaging	0.61
R4427:Frem2	UTSW	3	53,446,583 (GRCm39)	critical splice donor site	probably null
R4428:Frem2	UTSW	3	53,561,759 (GRCm39)	missense	probably benign	0.40
R4559:Frem2	UTSW	3	53,561,742 (GRCm39)	missense	probably benign	0.01
R4600:Frem2	UTSW	3	53,455,228 (GRCm39)	missense	possibly damaging	0.96
R4602:Frem2	UTSW	3	53,455,228 (GRCm39)	missense	possibly damaging	0.96
R4610:Frem2	UTSW	3	53,455,228 (GRCm39)	missense	possibly damaging	0.96
R4611:Frem2	UTSW	3	53,455,228 (GRCm39)	missense	possibly damaging	0.96
R4661:Frem2	UTSW	3	53,562,864 (GRCm39)	missense	probably damaging	1.00
R4678:Frem2	UTSW	3	53,451,792 (GRCm39)	missense	probably benign	0.00
R4689:Frem2	UTSW	3	53,455,056 (GRCm39)	missense	probably benign	0.43
R4740:Frem2	UTSW	3	53,443,240 (GRCm39)	missense	probably benign	0.04
R4748:Frem2	UTSW	3	53,448,514 (GRCm39)	missense	probably damaging	1.00
R4790:Frem2	UTSW	3	53,424,162 (GRCm39)	missense	probably benign
R4809:Frem2	UTSW	3	53,561,316 (GRCm39)	missense	probably benign	0.01
R4930:Frem2	UTSW	3	53,563,736 (GRCm39)	missense	possibly damaging	0.93
R4971:Frem2	UTSW	3	53,446,604 (GRCm39)	missense	probably damaging	1.00
R5057:Frem2	UTSW	3	53,442,617 (GRCm39)	missense	probably benign	0.37
R5202:Frem2	UTSW	3	53,458,767 (GRCm39)	missense	probably benign	0.41
R5221:Frem2	UTSW	3	53,493,032 (GRCm39)	missense	probably damaging	1.00
R5231:Frem2	UTSW	3	53,429,716 (GRCm39)	missense	probably damaging	1.00
R5268:Frem2	UTSW	3	53,560,575 (GRCm39)	missense	probably damaging	0.96
R5480:Frem2	UTSW	3	53,563,928 (GRCm39)	nonsense	probably null
R5637:Frem2	UTSW	3	53,560,358 (GRCm39)	missense	probably damaging	0.97
R5664:Frem2	UTSW	3	53,559,911 (GRCm39)	missense	probably benign	0.33
R5698:Frem2	UTSW	3	53,559,926 (GRCm39)	missense	possibly damaging	0.89
R5744:Frem2	UTSW	3	53,563,380 (GRCm39)	missense	probably damaging	1.00
R5754:Frem2	UTSW	3	53,444,679 (GRCm39)	missense	probably damaging	1.00
R5808:Frem2	UTSW	3	53,559,984 (GRCm39)	missense	probably damaging	0.96
R5840:Frem2	UTSW	3	53,555,342 (GRCm39)	missense	probably damaging	0.99
R5874:Frem2	UTSW	3	53,444,910 (GRCm39)	missense	probably benign	0.21
R6050:Frem2	UTSW	3	53,560,433 (GRCm39)	missense	probably damaging	0.99
R6103:Frem2	UTSW	3	53,457,209 (GRCm39)	missense	probably benign	0.00
R6149:Frem2	UTSW	3	53,458,762 (GRCm39)	missense	probably damaging	0.98
R6182:Frem2	UTSW	3	53,555,390 (GRCm39)	missense	probably damaging	1.00
R6191:Frem2	UTSW	3	53,562,701 (GRCm39)	missense	probably benign	0.10
R6245:Frem2	UTSW	3	53,563,245 (GRCm39)	missense	probably benign	0.00
R6252:Frem2	UTSW	3	53,479,869 (GRCm39)	missense	probably damaging	1.00
R6393:Frem2	UTSW	3	53,493,061 (GRCm39)	missense	possibly damaging	0.91
R6416:Frem2	UTSW	3	53,479,799 (GRCm39)	missense	probably benign	0.01
R6595:Frem2	UTSW	3	53,457,205 (GRCm39)	missense	probably damaging	1.00
R6665:Frem2	UTSW	3	53,562,077 (GRCm39)	missense	probably damaging	1.00
R6708:Frem2	UTSW	3	53,492,922 (GRCm39)	missense	probably benign	0.00
R6751:Frem2	UTSW	3	53,561,086 (GRCm39)	missense	probably damaging	1.00
R6787:Frem2	UTSW	3	53,561,744 (GRCm39)	missense	probably benign	0.01
R6913:Frem2	UTSW	3	53,424,242 (GRCm39)	missense	probably damaging	1.00
R6916:Frem2	UTSW	3	53,455,109 (GRCm39)	missense	probably damaging	1.00
R7017:Frem2	UTSW	3	53,427,023 (GRCm39)	missense	probably benign	0.02
R7083:Frem2	UTSW	3	53,444,914 (GRCm39)	missense	probably damaging	0.99
R7108:Frem2	UTSW	3	53,560,934 (GRCm39)	missense	probably damaging	1.00
R7133:Frem2	UTSW	3	53,479,760 (GRCm39)	missense	possibly damaging	0.82
R7326:Frem2	UTSW	3	53,562,174 (GRCm39)	missense	probably damaging	1.00
R7341:Frem2	UTSW	3	53,561,916 (GRCm39)	missense	probably damaging	1.00
R7455:Frem2	UTSW	3	53,479,701 (GRCm39)	splice site	probably null
R7487:Frem2	UTSW	3	53,561,970 (GRCm39)	missense	probably benign	0.40
R7495:Frem2	UTSW	3	53,424,258 (GRCm39)	missense	probably benign	0.13
R7542:Frem2	UTSW	3	53,560,000 (GRCm39)	missense	probably damaging	1.00
R7636:Frem2	UTSW	3	53,560,668 (GRCm39)	missense	probably benign	0.00
R7703:Frem2	UTSW	3	53,429,589 (GRCm39)	missense	probably benign	0.01
R7750:Frem2	UTSW	3	53,431,103 (GRCm39)	missense	possibly damaging	0.83
R7849:Frem2	UTSW	3	53,479,795 (GRCm39)	missense	probably damaging	1.00
R7922:Frem2	UTSW	3	53,560,725 (GRCm39)	missense	probably damaging	0.98
R8008:Frem2	UTSW	3	53,560,331 (GRCm39)	missense	probably damaging	1.00
R8051:Frem2	UTSW	3	53,442,776 (GRCm39)	missense	probably benign	0.04
R8052:Frem2	UTSW	3	53,457,064 (GRCm39)	missense	probably benign	0.02
R8176:Frem2	UTSW	3	53,562,761 (GRCm39)	missense	possibly damaging	0.50
R8220:Frem2	UTSW	3	53,563,928 (GRCm39)	nonsense	probably null
R8397:Frem2	UTSW	3	53,560,562 (GRCm39)	missense	probably benign	0.00
R8410:Frem2	UTSW	3	53,446,598 (GRCm39)	missense	possibly damaging	0.60
R8697:Frem2	UTSW	3	53,433,249 (GRCm39)	missense	probably damaging	0.99
R9134:Frem2	UTSW	3	53,562,321 (GRCm39)	missense	probably damaging	1.00
R9183:Frem2	UTSW	3	53,427,486 (GRCm39)	missense	probably damaging	1.00
R9260:Frem2	UTSW	3	53,560,204 (GRCm39)	missense	probably damaging	1.00
R9267:Frem2	UTSW	3	53,564,504 (GRCm39)	start codon destroyed	probably null	0.00
R9299:Frem2	UTSW	3	53,563,980 (GRCm39)	missense	probably benign	0.37
R9378:Frem2	UTSW	3	53,559,410 (GRCm39)	missense	probably damaging	0.99
R9444:Frem2	UTSW	3	53,560,265 (GRCm39)	missense	probably benign	0.10
R9459:Frem2	UTSW	3	53,560,907 (GRCm39)	missense	probably benign
R9487:Frem2	UTSW	3	53,560,905 (GRCm39)	missense	possibly damaging	0.95
R9728:Frem2	UTSW	3	53,564,052 (GRCm39)	missense	probably benign	0.00
R9759:Frem2	UTSW	3	53,562,918 (GRCm39)	missense	possibly damaging	0.76
Z1177:Frem2	UTSW	3	53,563,028 (GRCm39)	missense	probably benign	0.31
Z1177:Frem2	UTSW	3	53,442,587 (GRCm39)	missense	probably null	1.00

Posted On

2013-03-25