Mutagenetix > Incidental Mutation

Incidental Mutation 'R4196:Frem2'

318554

Institutional Source

Beutler Lab

Gene Symbol

Frem2

Ensembl Gene

ENSMUSG00000037016

Gene Name

Fras1 related extracellular matrix protein 2

Synonyms

my, ne, 6030440P17Rik, b2b1562Clo, 8430406N05Rik

MMRRC Submission

041027-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4196 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53513938-53657355 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53539268 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 2360 (F2360L)

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: F2360L

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000088670
Gene: ENSMUSG00000037016
AA Change: F2360L

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: ENSMUST00000197519

Meta Mutation Damage Score

0.1840

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.8%

Validation Efficiency

100% (39/39)

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
2610507B11Rik	A	G	11: 78,263,556 (GRCm38)		probably benign	Het
Acmsd	T	G	1: 127,749,194 (GRCm38)	L152R	probably damaging	Het
Ankle2	A	G	5: 110,244,543 (GRCm38)	K472E	possibly damaging	Het
Aup1	T	C	6: 83,055,230 (GRCm38)	V126A	probably damaging	Het
Baz1a	T	C	12: 54,911,415 (GRCm38)	Y1014C	probably damaging	Het
Bcl9	A	T	3: 97,216,368 (GRCm38)		probably benign	Het
Cnot2	A	T	10: 116,501,304 (GRCm38)	N221K	possibly damaging	Het
Col19a1	G	A	1: 24,534,052 (GRCm38)	S213L	unknown	Het
Eif4enif1	T	C	11: 3,243,186 (GRCm38)	V675A	possibly damaging	Het
Elp3	A	G	14: 65,548,002 (GRCm38)	L450P	probably damaging	Het
Erbb4	C	T	1: 68,343,855 (GRCm38)	D328N	possibly damaging	Het
Fbll1	T	A	11: 35,797,872 (GRCm38)	H188L	possibly damaging	Het
Gm2396	A	G	9: 88,917,662 (GRCm38)		noncoding transcript	Het
Gulo	G	T	14: 65,988,253 (GRCm38)	P375T	possibly damaging	Het
Hspd1	T	C	1: 55,086,909 (GRCm38)	M11V	probably benign	Het
Ikbkap	A	T	4: 56,755,353 (GRCm38)	N1295K	probably damaging	Het
Itgav	A	G	2: 83,768,327 (GRCm38)	T243A	probably benign	Het
Lipg	C	T	18: 74,945,831 (GRCm38)	R450H	probably damaging	Het
Lrp3	T	A	7: 35,203,410 (GRCm38)	S504C	probably damaging	Het
Mrps9	T	G	1: 42,901,094 (GRCm38)		probably benign	Het
Nlgn1	A	G	3: 25,434,392 (GRCm38)	V564A	probably damaging	Het
Ntf3	T	C	6: 126,102,175 (GRCm38)	T110A	probably benign	Het
Pkd1l1	T	A	11: 8,909,929 (GRCm38)	I560F	probably damaging	Het
Prepl	T	C	17: 85,081,154 (GRCm38)	T174A	probably benign	Het
Ptprg	A	T	14: 12,122,002 (GRCm38)	T289S	possibly damaging	Het
Rab11fip2	T	C	19: 59,935,781 (GRCm38)	T222A	probably damaging	Het
Rhbdd3	G	T	11: 5,099,460 (GRCm38)		probably benign	Het
Sept4	C	A	11: 87,588,772 (GRCm38)	D239E	probably damaging	Het
Shprh	A	G	10: 11,207,860 (GRCm38)		probably benign	Het
Slc3a1	T	A	17: 85,060,878 (GRCm38)	W525R	probably damaging	Het
Trim75	A	G	8: 64,982,764 (GRCm38)	S345P	probably damaging	Het
Usp5	C	T	6: 124,824,938 (GRCm38)	E72K	possibly damaging	Het
Vmn1r225	T	A	17: 20,502,975 (GRCm38)	M226K	probably benign	Het
Wnk4	T	A	11: 101,269,631 (GRCm38)	V697E	probably damaging	Het
Zbtb9	C	T	17: 26,973,879 (GRCm38)	T86I	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
IGL02175:Frem2	APN	3	53,655,599 (GRCm38)	missense	possibly damaging	0.69
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
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

Predicted Primers

PCR Primer
(F):5'- TTTGCCCGATGGTGACTGTC -3'
(R):5'- GAATACAGTCTGCACGTGGC -3'

Sequencing Primer
(F):5'- TTCTCTTACAGGACTAAAGGGATGGC -3'
(R):5'- GCACGTGGCAATTTCATCAG -3'

Posted On

2015-06-10