Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01580:Frem2'

91351

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Frem2

Ensembl Gene

ENSMUSG00000037016

Gene Name

Fras1 related extracellular matrix protein 2

Synonyms

8430406N05Rik, ne, 6030440P17Rik, b2b1562Clo, my

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01580

Quality Score

Status

Chromosome

Chromosomal Location

53421359-53564776 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53562596 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 637 (I637T)

Ref Sequence

ENSEMBL: ENSMUSP00000088670 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000091137
AA Change: I637T

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

SMART Domains

Protein: ENSMUSP00000088670
Gene: ENSMUSG00000037016
AA Change: I637T

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

Coding Region Coverage

Validation Efficiency

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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	G	A	11: 9,243,527 (GRCm39)	V1797I	probably benign	Het
Abi3bp	A	G	16: 56,495,573 (GRCm39)	E865G	probably damaging	Het
Ahnak	A	G	19: 8,980,203 (GRCm39)	T496A	probably benign	Het
BC030500	T	C	8: 59,366,054 (GRCm39)		probably benign	Het
Col6a4	A	C	9: 105,945,397 (GRCm39)	Y906D	probably damaging	Het
Dip2c	T	G	13: 9,687,124 (GRCm39)		probably null	Het
Guf1	T	C	5: 69,722,764 (GRCm39)		probably benign	Het
Htr1f	G	A	16: 64,746,198 (GRCm39)	R365*	probably null	Het
Oog4	T	C	4: 143,165,682 (GRCm39)	N155S	probably benign	Het
Or10ag2	A	T	2: 87,248,880 (GRCm39)	I163F	probably benign	Het
Or52x1	T	C	7: 104,853,113 (GRCm39)	I146V	probably benign	Het
Phactr3	C	A	2: 177,911,297 (GRCm39)		probably benign	Het
Pi4k2b	T	C	5: 52,912,003 (GRCm39)	V300A	possibly damaging	Het
Pik3c2g	A	G	6: 139,599,514 (GRCm39)	D210G	probably damaging	Het
Pxdn	A	G	12: 30,034,492 (GRCm39)	T182A	probably benign	Het
Scn10a	A	G	9: 119,456,225 (GRCm39)	V1199A	probably damaging	Het
Scrn2	A	G	11: 96,922,956 (GRCm39)	H133R	probably benign	Het
Shq1	G	A	6: 100,550,705 (GRCm39)	S411L	possibly damaging	Het
Tmcc1	A	C	6: 116,019,946 (GRCm39)	V462G	possibly 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
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
R0108:Frem2	UTSW	3	53,555,382 (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

2013-12-09