Mutagenetix > Incidental Mutation

Incidental Mutation 'R5221:Frem2'

402302

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

042794-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5221 (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 53585611 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1828 (V1828A)

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: V1828A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000088670
Gene: ENSMUSG00000037016
AA Change: V1828A

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

Meta Mutation Damage Score

0.6190

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

98% (53/54)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap26	T	A	18: 39,110,472	Y134*	probably null	Het
Asap2	A	G	12: 21,213,190	I269V	probably benign	Het
BC037034	C	T	5: 138,262,240	S308N	probably benign	Het
Bean1	A	T	8: 104,215,152	D34V	probably damaging	Het
C8a	C	T	4: 104,845,925	V312M	probably damaging	Het
Ccser1	T	C	6: 61,312,091	S413P	probably damaging	Het
Col4a2	A	G	8: 11,448,225	N1678S	probably benign	Het
Coq2	G	A	5: 100,657,832	H313Y	possibly damaging	Het
Dsg1a	T	A	18: 20,324,014	M148K	possibly damaging	Het
Fam173a	T	C	17: 25,791,639	N67S	possibly damaging	Het
Farp2	T	A	1: 93,576,418	C306S	probably damaging	Het
Gm6457	T	C	18: 14,570,117		noncoding transcript	Het
Gm8979	G	C	7: 106,083,974		noncoding transcript	Het
Gm9268	T	A	7: 43,023,260	H106Q	probably benign	Het
Gm9774	T	C	3: 92,428,508	I296V	probably benign	Het
Gmip	T	G	8: 69,814,135	V300G	probably damaging	Het
Gstp3	A	G	19: 4,057,607	S186P	probably damaging	Het
Kl	G	T	5: 150,989,151	L788F	probably damaging	Het
Lin9	T	A	1: 180,669,198	L351I	probably benign	Het
Lrp1b	A	C	2: 41,112,982	S1932A	possibly damaging	Het
Lrrc36	A	G	8: 105,443,856	T234A	probably damaging	Het
Mafa	T	A	15: 75,747,042	Q294L	possibly damaging	Het
Mesp2	C	T	7: 79,811,719	T264I	possibly damaging	Het
Mindy4	A	G	6: 55,224,107	Y259C	probably benign	Het
Olfr1	AGCGGTCGTAGGC	AGC	11: 73,395,654		probably null	Het
Olfr1026	A	G	2: 85,924,149	N294D	probably damaging	Het
Olfr1111	T	C	2: 87,150,481	Y60C	probably damaging	Het
Olfr709-ps1	A	T	7: 106,927,061	S133T	probably benign	Het
Olfr912	A	T	9: 38,581,852	T192S	probably damaging	Het
Pcm1	T	C	8: 41,288,156		probably null	Het
Plxna1	T	C	6: 89,321,016	D1760G	probably damaging	Het
Polq	T	A	16: 37,042,178	D345E	probably damaging	Het
Ppp1r14a	T	A	7: 29,289,501	I56N	probably damaging	Het
Ppp1r1a	G	A	15: 103,533,050	P79S	probably damaging	Het
Ptprf	C	T	4: 118,225,108	R1010H	probably benign	Het
Rai1	A	G	11: 60,190,597	E1829G	probably damaging	Het
Rmdn3	A	G	2: 119,156,454	Y31H	probably damaging	Het
Rrh	T	C	3: 129,815,631	S69G	probably damaging	Het
Skint6	A	T	4: 112,894,924		probably null	Het
Slc22a27	C	G	19: 7,865,938	A359P	probably damaging	Het
Sltm	T	G	9: 70,579,403	L450R	probably damaging	Het
Sufu	T	C	19: 46,450,965		probably null	Het
Tmem68	T	C	4: 3,560,561	T208A	possibly damaging	Het
Tnc	T	A	4: 63,993,297	R1346*	probably null	Het
Tpbg	T	C	9: 85,844,425	L149P	probably damaging	Het
Ubtf	G	A	11: 102,307,990	Q585*	probably null	Het
Vmn2r68	A	T	7: 85,221,877	C733S	probably damaging	Het
Wscd1	G	T	11: 71,768,675	G194W	possibly damaging	Het
Zfp354b	A	C	11: 50,923,090	I336S	probably benign	Het
Zfp462	T	A	4: 55,016,887	V870E	possibly damaging	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
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
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'- AAGCCCAAACAGTGACCTTG -3'
(R):5'- TGCCCAGCAATGAGACAAAG -3'

Sequencing Primer
(F):5'- CAGTGACCTTGAACTCCTCTATAAG -3'
(R):5'- CCCAGCAATGAGACAAAGAAAGAG -3'

Posted On

2016-07-22