Mutagenetix > Incidental Mutations

Incidental Mutation 'R4678:Frem2'

349733

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

041931-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4678 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

53513938-53657355 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 53544371 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 2266 (I2266F)

Ref Sequence

ENSEMBL: ENSMUSP00000088670 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000091137
AA Change: I2266F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000088670
Gene: ENSMUSG00000037016
AA Change: I2266F

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.9%
20x: 94.1%

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110025L11Rik	T	C	16: 89,063,985		probably benign	Het
Abcc4	A	G	14: 118,627,691	S308P	probably damaging	Het
Agr3	G	T	12: 35,947,833	V115L	probably damaging	Het
Ahr	A	T	12: 35,507,464	I319N	probably damaging	Het
Alpk1	A	T	3: 127,679,858	V832D	probably damaging	Het
Ano1	T	C	7: 144,669,552	T78A	probably benign	Het
Apob	G	A	12: 7,995,585	G897D	probably damaging	Het
Arfgef1	A	G	1: 10,142,666	F1677L	probably benign	Het
Arhgap40	G	T	2: 158,532,306	G217W	probably benign	Het
Arhgef4	A	G	1: 34,722,668	E335G	unknown	Het
Calcoco2	T	C	11: 96,103,548	T60A	probably damaging	Het
Catsperg1	A	T	7: 29,190,296	S741T	probably benign	Het
Ccdc181	T	G	1: 164,278,277	I27S	probably damaging	Het
Ceacam9	A	T	7: 16,725,409	Y211F	probably damaging	Het
Cep41	T	C	6: 30,671,319		probably null	Het
Cercam	T	A	2: 29,869,677	L45Q	probably damaging	Het
Cnnm2	G	A	19: 46,763,246	V492M	possibly damaging	Het
Cntn3	A	G	6: 102,204,020	V738A	probably damaging	Het
Coq8a	T	C	1: 180,170,081	E351G	probably damaging	Het
Cyp3a57	T	C	5: 145,370,728		probably null	Het
Dbn1	T	C	13: 55,475,258	I471V	probably benign	Het
Ddx21	G	T	10: 62,594,003	Q321K	probably benign	Het
Dhx8	T	C	11: 101,739,808	V347A	probably damaging	Het
Dkc1	A	G	X: 75,100,992	I215V	probably benign	Homo
Dlg2	A	G	7: 92,428,580	I685V	possibly damaging	Het
Dusp11	A	C	6: 85,953,381	N140K	probably damaging	Het
Ece2	A	G	16: 20,640,718	K454R	probably damaging	Het
Eno4	T	A	19: 58,946,749	V131E	probably damaging	Het
Enpep	A	G	3: 129,303,713		probably null	Het
Etv1	T	C	12: 38,835,220	Y236H	probably damaging	Het
F2rl2	A	G	13: 95,700,632	T62A	probably benign	Het
Fam196b	T	G	11: 34,403,227	L423R	probably damaging	Het
Fbxl21	T	C	13: 56,537,049	V296A	probably damaging	Het
Fig4	T	C	10: 41,272,998	I153V	probably benign	Het
Fis1	T	A	5: 136,963,097	N41K	possibly damaging	Het
Fras1	T	A	5: 96,700,568	M1814K	probably benign	Het
Gm10330	A	T	12: 23,779,842	*113R	probably null	Het
Gm12185	T	A	11: 48,915,540	I275F	probably benign	Het
Gsdme	A	T	6: 50,229,324	C180S	possibly damaging	Het
Herc1	A	G	9: 66,416,269	E1355G	probably benign	Het
Hnrnpm	A	T	17: 33,650,211	I453N	possibly damaging	Het
Hspb9	T	C	11: 100,714,070	L74P	probably damaging	Het
Ift46	C	A	9: 44,783,963	Y85*	probably null	Het
Ints3	T	C	3: 90,408,510	T316A	possibly damaging	Het
Isg20	C	T	7: 78,914,328		probably benign	Het
Itga11	T	A	9: 62,735,357	N187K	probably damaging	Het
Klhl9	G	A	4: 88,720,924	T360I	probably damaging	Het
Krt39	T	A	11: 99,521,000	I87F	probably benign	Het
Krtap19-4	G	A	16: 88,884,846	S74F	unknown	Het
Lgi1	G	A	19: 38,301,289	V268I	probably damaging	Het
Lrrc46	G	A	11: 97,034,893	P248S	probably benign	Het
Lrrn4	C	T	2: 132,879,568	V110I	probably benign	Het
Mamstr	C	A	7: 45,644,692		probably benign	Het
Micu3	T	A	8: 40,380,677	F451I	probably damaging	Het
Mid1	C	A	X: 169,985,048	D130E	possibly damaging	Het
Mkks	T	C	2: 136,880,281	T319A	probably benign	Het
Mob3c	A	G	4: 115,833,771		probably null	Het
Muc6	T	C	7: 141,644,287	E1192G	probably benign	Het
Ndc80	A	G	17: 71,520,758		probably null	Het
Nfx1	A	G	4: 41,012,070	K807E	probably benign	Het
Nrxn1	A	T	17: 90,623,422	L181Q	probably damaging	Het
Nsun7	A	G	5: 66,261,064	S46G	probably benign	Het
Nup98	A	T	7: 102,184,831	L308H	probably damaging	Het
Olfr1079	T	C	2: 86,538,733	M61V	possibly damaging	Het
Olfr1220	C	A	2: 89,097,516	W137L	probably benign	Het
Olfr523	T	C	7: 140,176,228	V36A	probably benign	Het
Olfr592	T	C	7: 103,186,891	F97L	probably damaging	Het
Palb2	T	C	7: 122,127,366	K427R	probably damaging	Het
Pcdha1	C	A	18: 36,930,912	Q210K	probably benign	Het
Pcdhb2	T	C	18: 37,296,207	L411P	probably damaging	Het
Pde4dip	C	A	3: 97,695,005	D2252Y	probably damaging	Het
Plekhg4	T	A	8: 105,380,371	Y899*	probably null	Het
Plxnb2	G	T	15: 89,160,928	T1105K	probably benign	Het
Psmd2	T	C	16: 20,659,969	V606A	probably damaging	Het
Ptprq	A	T	10: 107,685,182	F710I	probably benign	Het
Rad51ap2	A	G	12: 11,456,551	E158G	probably damaging	Het
Rasip1	T	A	7: 45,627,823	H18Q	possibly damaging	Het
Rassf8	A	G	6: 145,815,082	K45E	probably damaging	Het
Rrn3	T	A	16: 13,796,076	M284K	probably damaging	Het
Rsf1	GGCG	GGCGACGGCTGCG	7: 97,579,906		probably benign	Het
Rtn2	C	A	7: 19,293,895	N403K	probably damaging	Het
Rusc1	A	G	3: 89,089,720	W462R	probably damaging	Het
Sdc3	T	A	4: 130,818,596		probably benign	Het
Secisbp2l	C	T	2: 125,740,737	G933D	possibly damaging	Het
Slc12a2	T	A	18: 57,905,960	C537*	probably null	Het
Slc4a2	G	A	5: 24,434,240		probably null	Het
Spsb4	T	A	9: 96,995,691	D193V	probably damaging	Het
Strn	A	C	17: 78,677,351	F288V	probably damaging	Het
Stx18	G	A	5: 38,136,368		probably benign	Het
Tfcp2l1	T	A	1: 118,668,648	M371K	probably benign	Het
Thnsl1	A	G	2: 21,211,541		probably null	Het
Tlr11	C	T	14: 50,360,982	H142Y	possibly damaging	Het
Tor1aip2	T	A	1: 156,065,034	I362K	probably damaging	Het
Trmt13	T	C	3: 116,589,755	K125E	probably damaging	Het
Trpm8	T	C	1: 88,337,129	V320A	probably benign	Het
Ubr3	A	T	2: 69,935,919	H377L	probably damaging	Het
Usp8	A	G	2: 126,725,429	R123G	probably null	Het
Vim	T	A	2: 13,574,964	L178Q	probably damaging	Het
Vmn1r231	A	C	17: 20,890,227	V142G	possibly damaging	Het
Vmn1r83	A	G	7: 12,321,770	M120T	possibly damaging	Het
Vwce	G	T	19: 10,664,648	V913F	possibly damaging	Het
Zbtb18	C	A	1: 177,447,719	T215K	probably benign	Het
Zeb2	A	T	2: 44,996,341	D857E	probably damaging	Het
Zfp106	G	A	2: 120,533,740	H729Y	probably damaging	Het
Zfp977	C	A	7: 42,580,013	A363S	probably benign	Het

Other mutations in Frem2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00895:Frem2	APN	3	53585595	missense	probably damaging	1.00
IGL00911:Frem2	APN	3	53572462	missense	probably damaging	1.00
IGL01322:Frem2	APN	3	53541038	missense	probably benign	0.00
IGL01330:Frem2	APN	3	53655241	missense	possibly damaging	0.70
IGL01406:Frem2	APN	3	53525896	missense	probably damaging	1.00
IGL01556:Frem2	APN	3	53535281	missense	probably benign	0.23
IGL01580:Frem2	APN	3	53655175	missense	probably damaging	1.00
IGL01606:Frem2	APN	3	53653591	missense	possibly damaging	0.69
IGL01611:Frem2	APN	3	53655709	missense	probably benign	0.00
IGL01648:Frem2	APN	3	53535732	missense	possibly damaging	0.86
IGL01663:Frem2	APN	3	53517013	missense	probably damaging	1.00
IGL01665:Frem2	APN	3	53549662	missense	probably benign	0.07
IGL01670:Frem2	APN	3	53656937	missense	possibly damaging	0.95
IGL01960:Frem2	APN	3	53522304	missense	probably benign	0.33
IGL02175:Frem2	APN	3	53655599	missense	possibly damaging	0.69
IGL02201:Frem2	APN	3	53519640	missense	probably benign	0.35
IGL02202:Frem2	APN	3	53654799	missense	probably benign	0.00
IGL02427:Frem2	APN	3	53535763	missense	probably damaging	0.97
IGL02457:Frem2	APN	3	53521049	missense	probably damaging	0.99
IGL02638:Frem2	APN	3	53551346	missense	possibly damaging	0.94
IGL02801:Frem2	APN	3	53652175	missense	possibly damaging	0.85
IGL03023:Frem2	APN	3	53655628	missense	probably benign	0.40
IGL03169:Frem2	APN	3	53522292	missense	probably benign	0.01
IGL03238:Frem2	APN	3	53656261	missense	possibly damaging	0.93
IGL03251:Frem2	APN	3	53572308	missense	probably benign	0.01
IGL03273:Frem2	APN	3	53537509	nonsense	probably null
IGL03343:Frem2	APN	3	53652253	missense	probably damaging	1.00
Biosimilar	UTSW	3	53654323	missense	probably benign	0.01
Fruit_stripe	UTSW	3	53537489	missense	probably benign	0.21
PIT4366001:Frem2	UTSW	3	53653201	missense	probably damaging	0.98
R0019:Frem2	UTSW	3	53523678	missense	probably damaging	0.99
R0092:Frem2	UTSW	3	53589796	missense	probably benign	0.03
R0108:Frem2	UTSW	3	53647961	missense	probably benign	0.03
R0115:Frem2	UTSW	3	53656208	missense	probably damaging	0.99
R0118:Frem2	UTSW	3	53535243	nonsense	probably null
R0374:Frem2	UTSW	3	53653960	missense	probably damaging	1.00
R0437:Frem2	UTSW	3	53653015	missense	possibly damaging	0.96
R0531:Frem2	UTSW	3	53519954	missense	probably damaging	1.00
R0555:Frem2	UTSW	3	53516860	missense	probably damaging	0.97
R0564:Frem2	UTSW	3	53656109	missense	probably damaging	0.97
R0586:Frem2	UTSW	3	53647921	missense	probably damaging	0.99
R0726:Frem2	UTSW	3	53519626	missense	possibly damaging	0.89
R0925:Frem2	UTSW	3	53653973	missense	probably benign
R1233:Frem2	UTSW	3	53547778	missense	probably damaging	0.98
R1302:Frem2	UTSW	3	53655538	missense	probably benign	0.00
R1333:Frem2	UTSW	3	53549731	missense	probably benign	0.26
R1446:Frem2	UTSW	3	53654596	missense	probably benign	0.31
R1523:Frem2	UTSW	3	53655407	missense	possibly damaging	0.73
R1539:Frem2	UTSW	3	53654210	missense	probably benign	0.19
R1543:Frem2	UTSW	3	53572455	missense	possibly damaging	0.86
R1597:Frem2	UTSW	3	53654519	missense	probably benign	0.19
R1600:Frem2	UTSW	3	53547723	missense	probably damaging	1.00
R1678:Frem2	UTSW	3	53519938	missense	probably damaging	1.00
R1687:Frem2	UTSW	3	53653952	missense	probably benign
R1696:Frem2	UTSW	3	53656042	nonsense	probably null
R1758:Frem2	UTSW	3	53653357	missense	probably damaging	1.00
R1857:Frem2	UTSW	3	53654873	missense	probably benign	0.10
R1869:Frem2	UTSW	3	53535196	missense	probably benign	0.04
R1921:Frem2	UTSW	3	53653495	missense	possibly damaging	0.76
R1973:Frem2	UTSW	3	53652232	missense	probably benign	0.01
R2045:Frem2	UTSW	3	53535744	missense	probably damaging	1.00
R2113:Frem2	UTSW	3	53652922	missense	probably damaging	1.00
R2152:Frem2	UTSW	3	53517029	nonsense	probably null
R2164:Frem2	UTSW	3	53537330	missense	probably damaging	1.00
R2181:Frem2	UTSW	3	53574587	missense	possibly damaging	0.72
R2201:Frem2	UTSW	3	53516573	missense	probably benign
R2221:Frem2	UTSW	3	53516857	missense	probably benign	0.00
R2255:Frem2	UTSW	3	53652514	missense	probably damaging	0.96
R2280:Frem2	UTSW	3	53572423	missense	probably damaging	1.00
R3196:Frem2	UTSW	3	53537331	missense	probably damaging	1.00
R3716:Frem2	UTSW	3	53572360	missense	probably damaging	1.00
R3807:Frem2	UTSW	3	53653449	missense	probably benign	0.22
R3820:Frem2	UTSW	3	53516849	missense	probably damaging	1.00
R3821:Frem2	UTSW	3	53652415	missense	probably damaging	1.00
R3977:Frem2	UTSW	3	53652070	missense	probably benign	0.00
R3979:Frem2	UTSW	3	53652070	missense	probably benign	0.00
R4014:Frem2	UTSW	3	53652353	missense	probably benign	0.01
R4127:Frem2	UTSW	3	53525896	missense	probably damaging	1.00
R4195:Frem2	UTSW	3	53539268	missense	possibly damaging	0.90
R4196:Frem2	UTSW	3	53539268	missense	possibly damaging	0.90
R4374:Frem2	UTSW	3	53545502	missense	possibly damaging	0.61
R4427:Frem2	UTSW	3	53539162	critical splice donor site	probably null
R4428:Frem2	UTSW	3	53654338	missense	probably benign	0.40
R4559:Frem2	UTSW	3	53654321	missense	probably benign	0.01
R4600:Frem2	UTSW	3	53547807	missense	possibly damaging	0.96
R4602:Frem2	UTSW	3	53547807	missense	possibly damaging	0.96
R4610:Frem2	UTSW	3	53547807	missense	possibly damaging	0.96
R4611:Frem2	UTSW	3	53547807	missense	possibly damaging	0.96
R4661:Frem2	UTSW	3	53655443	missense	probably damaging	1.00
R4689:Frem2	UTSW	3	53547635	missense	probably benign	0.43
R4740:Frem2	UTSW	3	53535819	missense	probably benign	0.04
R4748:Frem2	UTSW	3	53541093	missense	probably damaging	1.00
R4790:Frem2	UTSW	3	53516741	missense	probably benign
R4809:Frem2	UTSW	3	53653895	missense	probably benign	0.01
R4930:Frem2	UTSW	3	53656315	missense	possibly damaging	0.93
R4971:Frem2	UTSW	3	53539183	missense	probably damaging	1.00
R5057:Frem2	UTSW	3	53535196	missense	probably benign	0.37
R5202:Frem2	UTSW	3	53551346	missense	probably benign	0.41
R5221:Frem2	UTSW	3	53585611	missense	probably damaging	1.00
R5231:Frem2	UTSW	3	53522295	missense	probably damaging	1.00
R5268:Frem2	UTSW	3	53653154	missense	probably damaging	0.96
R5480:Frem2	UTSW	3	53656507	nonsense	probably null
R5637:Frem2	UTSW	3	53652937	missense	probably damaging	0.97
R5664:Frem2	UTSW	3	53652490	missense	probably benign	0.33
R5698:Frem2	UTSW	3	53652505	missense	possibly damaging	0.89
R5744:Frem2	UTSW	3	53655959	missense	probably damaging	1.00
R5754:Frem2	UTSW	3	53537258	missense	probably damaging	1.00
R5808:Frem2	UTSW	3	53652563	missense	probably damaging	0.96
R5840:Frem2	UTSW	3	53647921	missense	probably damaging	0.99
R5874:Frem2	UTSW	3	53537489	missense	probably benign	0.21
R6050:Frem2	UTSW	3	53653012	missense	probably damaging	0.99
R6103:Frem2	UTSW	3	53549788	missense	probably benign	0.00
R6149:Frem2	UTSW	3	53551341	missense	probably damaging	0.98
R6182:Frem2	UTSW	3	53647969	missense	probably damaging	1.00
R6191:Frem2	UTSW	3	53655280	missense	probably benign	0.10
R6245:Frem2	UTSW	3	53655824	missense	probably benign	0.00
R6252:Frem2	UTSW	3	53572448	missense	probably damaging	1.00
R6393:Frem2	UTSW	3	53585640	missense	possibly damaging	0.91
R6416:Frem2	UTSW	3	53572378	missense	probably benign	0.01
R6595:Frem2	UTSW	3	53549784	missense	probably damaging	1.00
R6665:Frem2	UTSW	3	53654656	missense	probably damaging	1.00
R6708:Frem2	UTSW	3	53585501	missense	probably benign	0.00
R6751:Frem2	UTSW	3	53653665	missense	probably damaging	1.00
R6787:Frem2	UTSW	3	53654323	missense	probably benign	0.01
R6913:Frem2	UTSW	3	53516821	missense	probably damaging	1.00
R6916:Frem2	UTSW	3	53547688	missense	probably damaging	1.00
R7017:Frem2	UTSW	3	53519602	missense	probably benign	0.02
R7083:Frem2	UTSW	3	53537493	missense	probably damaging	0.99
R7108:Frem2	UTSW	3	53653513	missense	probably damaging	1.00
R7133:Frem2	UTSW	3	53572339	missense	possibly damaging	0.82
R7326:Frem2	UTSW	3	53654753	missense	probably damaging	1.00
R7341:Frem2	UTSW	3	53654495	missense	probably damaging	1.00
R7455:Frem2	UTSW	3	53572280	splice site	probably null
R7487:Frem2	UTSW	3	53654549	missense	probably benign	0.40
R7495:Frem2	UTSW	3	53516837	missense	probably benign	0.13
R7542:Frem2	UTSW	3	53652579	missense	probably damaging	1.00
R7636:Frem2	UTSW	3	53653247	missense	probably benign	0.00
R7703:Frem2	UTSW	3	53522168	missense	probably benign	0.01
R7750:Frem2	UTSW	3	53523682	missense	possibly damaging	0.83
R7849:Frem2	UTSW	3	53572374	missense	probably damaging	1.00
R7932:Frem2	UTSW	3	53572374	missense	probably damaging	1.00
R8008:Frem2	UTSW	3	53652910	missense	probably damaging	1.00
R8051:Frem2	UTSW	3	53535355	missense	probably benign	0.04
R8052:Frem2	UTSW	3	53549643	missense	probably benign	0.02
Z1177:Frem2	UTSW	3	53535166	missense	probably null	1.00
Z1177:Frem2	UTSW	3	53655607	missense	probably benign	0.31

Predicted Primers

PCR Primer
(F):5'- TCCCAGTGGAAGTTTAAAAGCAC -3'
(R):5'- TTCCCAGGATGGATTCGCAG -3'

Sequencing Primer
(F):5'- GTGGAAGTTTAAAAGCACTCATTCAC -3'
(R):5'- TGATAAAAGTCCCCCATGTGG -3'

Posted On

2015-10-08