Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02175:Frem2'

283079

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Frem2

Ensembl Gene

ENSMUSG00000037016

Gene Name

Fras1 related extracellular matrix protein 2

Synonyms

my, ne, 6030440P17Rik, b2b1562Clo, 8430406N05Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02175

Quality Score

Status

Chromosome

Chromosomal Location

53513938-53657355 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 53655599 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 496 (A496T)

Ref Sequence

ENSEMBL: ENSMUSP00000088670 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000091137
AA Change: A496T

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000088670
Gene: ENSMUSG00000037016
AA Change: A496T

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	A	T	8: 86,535,013 (GRCm38)		probably null	Het
Adgrf5	A	G	17: 43,451,010 (GRCm38)	I1199V	probably damaging	Het
Atm	T	A	9: 53,480,665 (GRCm38)	H1808L	probably damaging	Het
Cadps	C	T	14: 12,467,092 (GRCm38)	V942M	probably damaging	Het
Capns1	T	C	7: 30,190,532 (GRCm38)	D116G	probably benign	Het
Ccdc110	T	G	8: 45,940,623 (GRCm38)	M124R	probably benign	Het
Cdh23	T	C	10: 60,331,308 (GRCm38)	N1855S	possibly damaging	Het
Dstyk	T	A	1: 132,449,391 (GRCm38)	L245*	probably null	Het
Dync2h1	A	G	9: 7,111,548 (GRCm38)	Y289H	possibly damaging	Het
Efcab6	G	A	15: 83,896,100 (GRCm38)	A1044V	probably damaging	Het
Egr1	T	C	18: 34,863,055 (GRCm38)	S297P	probably benign	Het
Ercc6l2	T	C	13: 63,869,190 (GRCm38)		probably benign	Het
Hook2	T	A	8: 84,991,402 (GRCm38)	W53R	probably damaging	Het
Med19	T	A	2: 84,678,663 (GRCm38)		probably null	Het
Mgrn1	A	G	16: 4,920,368 (GRCm38)	N262S	probably benign	Het
Nbas	T	G	12: 13,566,259 (GRCm38)		probably null	Het
Ndc80	A	C	17: 71,511,419 (GRCm38)	M314R	probably benign	Het
Nelfcd	A	T	2: 174,420,382 (GRCm38)	T89S	probably benign	Het
Nlrp4a	A	T	7: 26,475,097 (GRCm38)	E969D	probably damaging	Het
Ntrk3	A	G	7: 78,247,228 (GRCm38)	V687A	probably damaging	Het
Oc90	A	C	15: 65,883,825 (GRCm38)	S224R	possibly damaging	Het
Or4a69	T	C	2: 89,482,282 (GRCm38)	I284M	possibly damaging	Het
Plxnb1	C	T	9: 109,100,846 (GRCm38)	H257Y	possibly damaging	Het
Prpf3	A	G	3: 95,834,107 (GRCm38)	V579A	probably damaging	Het
Rarres1	T	C	3: 67,495,756 (GRCm38)	N104S	probably benign	Het
Serpina1d	T	C	12: 103,765,696 (GRCm38)		probably null	Het
Sik2	G	A	9: 50,895,609 (GRCm38)	Q834*	probably null	Het
Slc39a10	G	A	1: 46,818,128 (GRCm38)	A696V	probably damaging	Het
Snx13	T	A	12: 35,132,062 (GRCm38)	N703K	possibly damaging	Het
Spaca9	T	C	2: 28,695,924 (GRCm38)	I43V	probably benign	Het
Tor1aip2	T	C	1: 156,065,006 (GRCm38)	S353P	probably damaging	Het
Trmt1l	T	C	1: 151,448,484 (GRCm38)	S361P	probably benign	Het
Trpm2	T	C	10: 77,937,907 (GRCm38)	H558R	probably benign	Het
Vmn1r75	T	C	7: 11,880,847 (GRCm38)	C127R	probably damaging	Het
Zfp879	A	T	11: 50,837,916 (GRCm38)	Y84N	probably benign	Het

Other mutations in Frem2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00895:Frem2	APN	3	53,585,595 (GRCm38)	missense	probably damaging	1.00
IGL00911:Frem2	APN	3	53,572,462 (GRCm38)	missense	probably damaging	1.00
IGL01322:Frem2	APN	3	53,541,038 (GRCm38)	missense	probably benign	0.00
IGL01330:Frem2	APN	3	53,655,241 (GRCm38)	missense	possibly damaging	0.70
IGL01406:Frem2	APN	3	53,525,896 (GRCm38)	missense	probably damaging	1.00
IGL01556:Frem2	APN	3	53,535,281 (GRCm38)	missense	probably benign	0.23
IGL01580:Frem2	APN	3	53,655,175 (GRCm38)	missense	probably damaging	1.00
IGL01606:Frem2	APN	3	53,653,591 (GRCm38)	missense	possibly damaging	0.69
IGL01611:Frem2	APN	3	53,655,709 (GRCm38)	missense	probably benign	0.00
IGL01648:Frem2	APN	3	53,535,732 (GRCm38)	missense	possibly damaging	0.86
IGL01663:Frem2	APN	3	53,517,013 (GRCm38)	missense	probably damaging	1.00
IGL01665:Frem2	APN	3	53,549,662 (GRCm38)	missense	probably benign	0.07
IGL01670:Frem2	APN	3	53,656,937 (GRCm38)	missense	possibly damaging	0.95
IGL01960:Frem2	APN	3	53,522,304 (GRCm38)	missense	probably benign	0.33
IGL02201:Frem2	APN	3	53,519,640 (GRCm38)	missense	probably benign	0.35
IGL02202:Frem2	APN	3	53,654,799 (GRCm38)	missense	probably benign	0.00
IGL02427:Frem2	APN	3	53,535,763 (GRCm38)	missense	probably damaging	0.97
IGL02457:Frem2	APN	3	53,521,049 (GRCm38)	missense	probably damaging	0.99
IGL02638:Frem2	APN	3	53,551,346 (GRCm38)	missense	possibly damaging	0.94
IGL02801:Frem2	APN	3	53,652,175 (GRCm38)	missense	possibly damaging	0.85
IGL03023:Frem2	APN	3	53,655,628 (GRCm38)	missense	probably benign	0.40
IGL03169:Frem2	APN	3	53,522,292 (GRCm38)	missense	probably benign	0.01
IGL03238:Frem2	APN	3	53,656,261 (GRCm38)	missense	possibly damaging	0.93
IGL03251:Frem2	APN	3	53,572,308 (GRCm38)	missense	probably benign	0.01
IGL03273:Frem2	APN	3	53,537,509 (GRCm38)	nonsense	probably null
IGL03343:Frem2	APN	3	53,652,253 (GRCm38)	missense	probably damaging	1.00
Biosimilar	UTSW	3	53,654,323 (GRCm38)	missense	probably benign	0.01
Fruit_stripe	UTSW	3	53,537,489 (GRCm38)	missense	probably benign	0.21
PIT4366001:Frem2	UTSW	3	53,653,201 (GRCm38)	missense	probably damaging	0.98
R0019:Frem2	UTSW	3	53,523,678 (GRCm38)	missense	probably damaging	0.99
R0092:Frem2	UTSW	3	53,589,796 (GRCm38)	missense	probably benign	0.03
R0108:Frem2	UTSW	3	53,647,961 (GRCm38)	missense	probably benign	0.03
R0115:Frem2	UTSW	3	53,656,208 (GRCm38)	missense	probably damaging	0.99
R0118:Frem2	UTSW	3	53,535,243 (GRCm38)	nonsense	probably null
R0374:Frem2	UTSW	3	53,653,960 (GRCm38)	missense	probably damaging	1.00
R0437:Frem2	UTSW	3	53,653,015 (GRCm38)	missense	possibly damaging	0.96
R0531:Frem2	UTSW	3	53,519,954 (GRCm38)	missense	probably damaging	1.00
R0555:Frem2	UTSW	3	53,516,860 (GRCm38)	missense	probably damaging	0.97
R0564:Frem2	UTSW	3	53,656,109 (GRCm38)	missense	probably damaging	0.97
R0586:Frem2	UTSW	3	53,647,921 (GRCm38)	missense	probably damaging	0.99
R0726:Frem2	UTSW	3	53,519,626 (GRCm38)	missense	possibly damaging	0.89
R0925:Frem2	UTSW	3	53,653,973 (GRCm38)	missense	probably benign
R1233:Frem2	UTSW	3	53,547,778 (GRCm38)	missense	probably damaging	0.98
R1302:Frem2	UTSW	3	53,655,538 (GRCm38)	missense	probably benign	0.00
R1333:Frem2	UTSW	3	53,549,731 (GRCm38)	missense	probably benign	0.26
R1446:Frem2	UTSW	3	53,654,596 (GRCm38)	missense	probably benign	0.31
R1523:Frem2	UTSW	3	53,655,407 (GRCm38)	missense	possibly damaging	0.73
R1539:Frem2	UTSW	3	53,654,210 (GRCm38)	missense	probably benign	0.19
R1543:Frem2	UTSW	3	53,572,455 (GRCm38)	missense	possibly damaging	0.86
R1597:Frem2	UTSW	3	53,654,519 (GRCm38)	missense	probably benign	0.19
R1600:Frem2	UTSW	3	53,547,723 (GRCm38)	missense	probably damaging	1.00
R1678:Frem2	UTSW	3	53,519,938 (GRCm38)	missense	probably damaging	1.00
R1687:Frem2	UTSW	3	53,653,952 (GRCm38)	missense	probably benign
R1696:Frem2	UTSW	3	53,656,042 (GRCm38)	nonsense	probably null
R1758:Frem2	UTSW	3	53,653,357 (GRCm38)	missense	probably damaging	1.00
R1857:Frem2	UTSW	3	53,654,873 (GRCm38)	missense	probably benign	0.10
R1869:Frem2	UTSW	3	53,535,196 (GRCm38)	missense	probably benign	0.04
R1921:Frem2	UTSW	3	53,653,495 (GRCm38)	missense	possibly damaging	0.76
R1973:Frem2	UTSW	3	53,652,232 (GRCm38)	missense	probably benign	0.01
R2045:Frem2	UTSW	3	53,535,744 (GRCm38)	missense	probably damaging	1.00
R2113:Frem2	UTSW	3	53,652,922 (GRCm38)	missense	probably damaging	1.00
R2152:Frem2	UTSW	3	53,517,029 (GRCm38)	nonsense	probably null
R2164:Frem2	UTSW	3	53,537,330 (GRCm38)	missense	probably damaging	1.00
R2181:Frem2	UTSW	3	53,574,587 (GRCm38)	missense	possibly damaging	0.72
R2201:Frem2	UTSW	3	53,516,573 (GRCm38)	missense	probably benign
R2221:Frem2	UTSW	3	53,516,857 (GRCm38)	missense	probably benign	0.00
R2255:Frem2	UTSW	3	53,652,514 (GRCm38)	missense	probably damaging	0.96
R2280:Frem2	UTSW	3	53,572,423 (GRCm38)	missense	probably damaging	1.00
R3196:Frem2	UTSW	3	53,537,331 (GRCm38)	missense	probably damaging	1.00
R3716:Frem2	UTSW	3	53,572,360 (GRCm38)	missense	probably damaging	1.00
R3807:Frem2	UTSW	3	53,653,449 (GRCm38)	missense	probably benign	0.22
R3820:Frem2	UTSW	3	53,516,849 (GRCm38)	missense	probably damaging	1.00
R3821:Frem2	UTSW	3	53,652,415 (GRCm38)	missense	probably damaging	1.00
R3977:Frem2	UTSW	3	53,652,070 (GRCm38)	missense	probably benign	0.00
R3979:Frem2	UTSW	3	53,652,070 (GRCm38)	missense	probably benign	0.00
R4014:Frem2	UTSW	3	53,652,353 (GRCm38)	missense	probably benign	0.01
R4127:Frem2	UTSW	3	53,525,896 (GRCm38)	missense	probably damaging	1.00
R4195:Frem2	UTSW	3	53,539,268 (GRCm38)	missense	possibly damaging	0.90
R4196:Frem2	UTSW	3	53,539,268 (GRCm38)	missense	possibly damaging	0.90
R4374:Frem2	UTSW	3	53,545,502 (GRCm38)	missense	possibly damaging	0.61
R4427:Frem2	UTSW	3	53,539,162 (GRCm38)	critical splice donor site	probably null
R4428:Frem2	UTSW	3	53,654,338 (GRCm38)	missense	probably benign	0.40
R4559:Frem2	UTSW	3	53,654,321 (GRCm38)	missense	probably benign	0.01
R4600:Frem2	UTSW	3	53,547,807 (GRCm38)	missense	possibly damaging	0.96
R4602:Frem2	UTSW	3	53,547,807 (GRCm38)	missense	possibly damaging	0.96
R4610:Frem2	UTSW	3	53,547,807 (GRCm38)	missense	possibly damaging	0.96
R4611:Frem2	UTSW	3	53,547,807 (GRCm38)	missense	possibly damaging	0.96
R4661:Frem2	UTSW	3	53,655,443 (GRCm38)	missense	probably damaging	1.00
R4678:Frem2	UTSW	3	53,544,371 (GRCm38)	missense	probably benign	0.00
R4689:Frem2	UTSW	3	53,547,635 (GRCm38)	missense	probably benign	0.43
R4740:Frem2	UTSW	3	53,535,819 (GRCm38)	missense	probably benign	0.04
R4748:Frem2	UTSW	3	53,541,093 (GRCm38)	missense	probably damaging	1.00
R4790:Frem2	UTSW	3	53,516,741 (GRCm38)	missense	probably benign
R4809:Frem2	UTSW	3	53,653,895 (GRCm38)	missense	probably benign	0.01
R4930:Frem2	UTSW	3	53,656,315 (GRCm38)	missense	possibly damaging	0.93
R4971:Frem2	UTSW	3	53,539,183 (GRCm38)	missense	probably damaging	1.00
R5057:Frem2	UTSW	3	53,535,196 (GRCm38)	missense	probably benign	0.37
R5202:Frem2	UTSW	3	53,551,346 (GRCm38)	missense	probably benign	0.41
R5221:Frem2	UTSW	3	53,585,611 (GRCm38)	missense	probably damaging	1.00
R5231:Frem2	UTSW	3	53,522,295 (GRCm38)	missense	probably damaging	1.00
R5268:Frem2	UTSW	3	53,653,154 (GRCm38)	missense	probably damaging	0.96
R5480:Frem2	UTSW	3	53,656,507 (GRCm38)	nonsense	probably null
R5637:Frem2	UTSW	3	53,652,937 (GRCm38)	missense	probably damaging	0.97
R5664:Frem2	UTSW	3	53,652,490 (GRCm38)	missense	probably benign	0.33
R5698:Frem2	UTSW	3	53,652,505 (GRCm38)	missense	possibly damaging	0.89
R5744:Frem2	UTSW	3	53,655,959 (GRCm38)	missense	probably damaging	1.00
R5754:Frem2	UTSW	3	53,537,258 (GRCm38)	missense	probably damaging	1.00
R5808:Frem2	UTSW	3	53,652,563 (GRCm38)	missense	probably damaging	0.96
R5840:Frem2	UTSW	3	53,647,921 (GRCm38)	missense	probably damaging	0.99
R5874:Frem2	UTSW	3	53,537,489 (GRCm38)	missense	probably benign	0.21
R6050:Frem2	UTSW	3	53,653,012 (GRCm38)	missense	probably damaging	0.99
R6103:Frem2	UTSW	3	53,549,788 (GRCm38)	missense	probably benign	0.00
R6149:Frem2	UTSW	3	53,551,341 (GRCm38)	missense	probably damaging	0.98
R6182:Frem2	UTSW	3	53,647,969 (GRCm38)	missense	probably damaging	1.00
R6191:Frem2	UTSW	3	53,655,280 (GRCm38)	missense	probably benign	0.10
R6245:Frem2	UTSW	3	53,655,824 (GRCm38)	missense	probably benign	0.00
R6252:Frem2	UTSW	3	53,572,448 (GRCm38)	missense	probably damaging	1.00
R6393:Frem2	UTSW	3	53,585,640 (GRCm38)	missense	possibly damaging	0.91
R6416:Frem2	UTSW	3	53,572,378 (GRCm38)	missense	probably benign	0.01
R6595:Frem2	UTSW	3	53,549,784 (GRCm38)	missense	probably damaging	1.00
R6665:Frem2	UTSW	3	53,654,656 (GRCm38)	missense	probably damaging	1.00
R6708:Frem2	UTSW	3	53,585,501 (GRCm38)	missense	probably benign	0.00
R6751:Frem2	UTSW	3	53,653,665 (GRCm38)	missense	probably damaging	1.00
R6787:Frem2	UTSW	3	53,654,323 (GRCm38)	missense	probably benign	0.01
R6913:Frem2	UTSW	3	53,516,821 (GRCm38)	missense	probably damaging	1.00
R6916:Frem2	UTSW	3	53,547,688 (GRCm38)	missense	probably damaging	1.00
R7017:Frem2	UTSW	3	53,519,602 (GRCm38)	missense	probably benign	0.02
R7083:Frem2	UTSW	3	53,537,493 (GRCm38)	missense	probably damaging	0.99
R7108:Frem2	UTSW	3	53,653,513 (GRCm38)	missense	probably damaging	1.00
R7133:Frem2	UTSW	3	53,572,339 (GRCm38)	missense	possibly damaging	0.82
R7326:Frem2	UTSW	3	53,654,753 (GRCm38)	missense	probably damaging	1.00
R7341:Frem2	UTSW	3	53,654,495 (GRCm38)	missense	probably damaging	1.00
R7455:Frem2	UTSW	3	53,572,280 (GRCm38)	splice site	probably null
R7487:Frem2	UTSW	3	53,654,549 (GRCm38)	missense	probably benign	0.40
R7495:Frem2	UTSW	3	53,516,837 (GRCm38)	missense	probably benign	0.13
R7542:Frem2	UTSW	3	53,652,579 (GRCm38)	missense	probably damaging	1.00
R7636:Frem2	UTSW	3	53,653,247 (GRCm38)	missense	probably benign	0.00
R7703:Frem2	UTSW	3	53,522,168 (GRCm38)	missense	probably benign	0.01
R7750:Frem2	UTSW	3	53,523,682 (GRCm38)	missense	possibly damaging	0.83
R7849:Frem2	UTSW	3	53,572,374 (GRCm38)	missense	probably damaging	1.00
R7922:Frem2	UTSW	3	53,653,304 (GRCm38)	missense	probably damaging	0.98
R8008:Frem2	UTSW	3	53,652,910 (GRCm38)	missense	probably damaging	1.00
R8051:Frem2	UTSW	3	53,535,355 (GRCm38)	missense	probably benign	0.04
R8052:Frem2	UTSW	3	53,549,643 (GRCm38)	missense	probably benign	0.02
R8176:Frem2	UTSW	3	53,655,340 (GRCm38)	missense	possibly damaging	0.50
R8220:Frem2	UTSW	3	53,656,507 (GRCm38)	nonsense	probably null
R8397:Frem2	UTSW	3	53,653,141 (GRCm38)	missense	probably benign	0.00
R8410:Frem2	UTSW	3	53,539,177 (GRCm38)	missense	possibly damaging	0.60
R8697:Frem2	UTSW	3	53,525,828 (GRCm38)	missense	probably damaging	0.99
R9134:Frem2	UTSW	3	53,654,900 (GRCm38)	missense	probably damaging	1.00
R9183:Frem2	UTSW	3	53,520,065 (GRCm38)	missense	probably damaging	1.00
R9260:Frem2	UTSW	3	53,652,783 (GRCm38)	missense	probably damaging	1.00
R9267:Frem2	UTSW	3	53,657,083 (GRCm38)	start codon destroyed	probably null	0.00
R9299:Frem2	UTSW	3	53,656,559 (GRCm38)	missense	probably benign	0.37
R9378:Frem2	UTSW	3	53,651,989 (GRCm38)	missense	probably damaging	0.99
R9444:Frem2	UTSW	3	53,652,844 (GRCm38)	missense	probably benign	0.10
R9459:Frem2	UTSW	3	53,653,486 (GRCm38)	missense	probably benign
R9487:Frem2	UTSW	3	53,653,484 (GRCm38)	missense	possibly damaging	0.95
R9728:Frem2	UTSW	3	53,656,631 (GRCm38)	missense	probably benign	0.00
R9759:Frem2	UTSW	3	53,655,497 (GRCm38)	missense	possibly damaging	0.76
Z1177:Frem2	UTSW	3	53,655,607 (GRCm38)	missense	probably benign	0.31
Z1177:Frem2	UTSW	3	53,535,166 (GRCm38)	missense	probably null	1.00

Posted On

2015-04-16