Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01330:Frem2'

74455

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 #

IGL01330

Quality Score

Status

Chromosome

Chromosomal Location

53513938-53657355 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 53655241 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 615 (Q615P)

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: Q615P

PolyPhen 2 Score 0.703 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000088670
Gene: ENSMUSG00000037016
AA Change: Q615P

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	A	G	19: 31,920,951 (GRCm38)	E245G	possibly damaging	Het
Acap2	T	C	16: 31,154,677 (GRCm38)	I43V	probably damaging	Het
Acot11	T	C	4: 106,771,484 (GRCm38)	T36A	probably benign	Het
Bsn	A	G	9: 108,110,913 (GRCm38)		probably benign	Het
Capza2	T	C	6: 17,654,171 (GRCm38)		probably null	Het
Cerkl	A	G	2: 79,368,781 (GRCm38)	I155T	possibly damaging	Het
Dclre1b	T	C	3: 103,803,126 (GRCm38)	T490A	probably benign	Het
Efcab6	G	A	15: 84,044,300 (GRCm38)	S31L	probably benign	Het
Faim	T	A	9: 98,992,535 (GRCm38)	M67K	probably damaging	Het
Fut9	A	G	4: 25,619,791 (GRCm38)	V341A	possibly damaging	Het
Grhpr	T	C	4: 44,986,375 (GRCm38)	F142L	probably benign	Het
Kif14	T	C	1: 136,476,374 (GRCm38)	V532A	probably damaging	Het
Klk1b9	T	A	7: 43,978,443 (GRCm38)	L55*	probably null	Het
Kmt2e	C	A	5: 23,497,948 (GRCm38)	P1042Q	possibly damaging	Het
Mpped1	T	A	15: 83,800,119 (GRCm38)	I114N	probably damaging	Het
Mtap	C	A	4: 89,171,223 (GRCm38)	T148K	probably damaging	Het
Muc16	G	A	9: 18,508,507 (GRCm38)	A8347V	possibly damaging	Het
Nhs	A	T	X: 161,841,453 (GRCm38)	S967T	probably damaging	Het
Npas3	A	G	12: 54,048,819 (GRCm38)	Y344C	probably damaging	Het
Olfr1431	T	C	19: 12,210,040 (GRCm38)	V158A	possibly damaging	Het
Olfr635	A	T	7: 103,980,142 (GRCm38)		probably benign	Het
Olfr876	T	A	9: 37,804,220 (GRCm38)	F103Y	probably damaging	Het
Osmr	A	G	15: 6,842,028 (GRCm38)	Y303H	probably damaging	Het
Pcdhb8	A	T	18: 37,357,578 (GRCm38)	I770F	probably benign	Het
Pde4a	C	T	9: 21,192,438 (GRCm38)		probably benign	Het
Prkacb	T	G	3: 146,751,511 (GRCm38)	N79T	probably damaging	Het
Psd3	A	C	8: 67,697,178 (GRCm38)	Y1222D	probably damaging	Het
Rrbp1	T	A	2: 143,968,618 (GRCm38)	E847D	possibly damaging	Het
Sbno1	A	T	5: 124,391,979 (GRCm38)	D912E	probably damaging	Het
Sgsm3	T	A	15: 81,010,852 (GRCm38)		probably benign	Het
Shcbp1	T	C	8: 4,736,372 (GRCm38)	T577A	probably benign	Het
Siglec1	A	T	2: 131,083,536 (GRCm38)	V335D	probably damaging	Het
Siglec1	A	T	2: 131,075,005 (GRCm38)	L1110*	probably null	Het
Slc4a11	A	G	2: 130,687,682 (GRCm38)	I335T	probably benign	Het
Smchd1	A	C	17: 71,436,788 (GRCm38)	S461A	probably benign	Het
Spata16	C	T	3: 26,914,715 (GRCm38)	P415S	probably damaging	Het
Tdrd12	G	A	7: 35,505,034 (GRCm38)	S217L	possibly damaging	Het
Tmem156	C	T	5: 65,080,182 (GRCm38)	R45H	probably benign	Het
Vmn2r90	T	C	17: 17,733,280 (GRCm38)	S569P	probably benign	Het
Vps13c	T	A	9: 67,964,108 (GRCm38)	V3220E	probably damaging	Het
Wdr59	T	C	8: 111,481,933 (GRCm38)	N439S	possibly damaging	Het
Zfp568	A	G	7: 30,022,277 (GRCm38)	M215V	probably benign	Het
Zgrf1	T	A	3: 127,584,007 (GRCm38)	V967E	probably damaging	Het
Zkscan16	A	G	4: 58,956,483 (GRCm38)	D255G	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
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
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

2013-10-07