Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03238:Frem2'

414188

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Frem2

Ensembl Gene

ENSMUSG00000037016

Gene Name

Fras1 related extracellular matrix protein 2

Synonyms

8430406N05Rik, ne, 6030440P17Rik, b2b1562Clo, my

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03238

Quality Score

Status

Chromosome

Chromosomal Location

53421359-53564776 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 53563682 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 275 (M275K)

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: M275K

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000088670
Gene: ENSMUSG00000037016
AA Change: M275K

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	A	C	3: 59,932,339 (GRCm39)	T285P	probably benign	Het
Abcf1	T	C	17: 36,274,215 (GRCm39)	K186E	probably damaging	Het
Adam3	T	C	8: 25,177,981 (GRCm39)		probably null	Het
Art1	T	C	7: 101,759,956 (GRCm39)	V85A	possibly damaging	Het
Ccdc110	A	G	8: 46,394,859 (GRCm39)	H250R	probably benign	Het
Cyp3a13	T	A	5: 137,897,151 (GRCm39)	I388F	probably damaging	Het
Dnah11	C	T	12: 118,073,633 (GRCm39)	V1425M	probably damaging	Het
Donson	G	A	16: 91,478,134 (GRCm39)	Q22*	probably null	Het
Eif2b2	A	G	12: 85,270,173 (GRCm39)	T238A	probably benign	Het
Emc2	T	A	15: 43,371,249 (GRCm39)		probably null	Het
Fkbp4	A	T	6: 128,411,720 (GRCm39)	V123E	probably damaging	Het
Gcat	T	A	15: 78,920,210 (GRCm39)		probably benign	Het
Gemin2	G	A	12: 59,063,748 (GRCm39)		probably benign	Het
Ilf3	T	A	9: 21,303,646 (GRCm39)	V169E	probably damaging	Het
Klra17	T	C	6: 129,845,773 (GRCm39)	H147R	probably benign	Het
Lama5	A	G	2: 179,830,367 (GRCm39)	I1880T	probably benign	Het
Lzts1	T	C	8: 69,591,446 (GRCm39)	D234G	probably damaging	Het
Map3k4	G	A	17: 12,490,045 (GRCm39)	P462L	probably benign	Het
Marchf6	C	A	15: 31,462,087 (GRCm39)		probably benign	Het
Mcm6	A	T	1: 128,283,257 (GRCm39)	F83I	probably benign	Het
Mtpn	A	G	6: 35,499,708 (GRCm39)	L32P	probably damaging	Het
Mybpc3	A	T	2: 90,962,004 (GRCm39)	I841F	probably damaging	Het
Ndst2	G	T	14: 20,778,572 (GRCm39)	H399N	probably damaging	Het
Npat	G	T	9: 53,481,726 (GRCm39)	V1145F	probably damaging	Het
Or51b6	G	A	7: 103,555,717 (GRCm39)	A21T	probably benign	Het
P2ry1	T	A	3: 60,911,916 (GRCm39)	S352T	probably damaging	Het
Plaa	T	C	4: 94,472,133 (GRCm39)	T326A	probably benign	Het
Ppdpf	T	C	2: 180,829,673 (GRCm39)	S43P	probably benign	Het
Prb1b	T	A	6: 132,289,308 (GRCm39)	Q172L	unknown	Het
Setd1a	C	T	7: 127,384,718 (GRCm39)	T523I	possibly damaging	Het
Sgcz	C	T	8: 38,030,294 (GRCm39)		probably null	Het
Slc12a2	T	C	18: 58,047,306 (GRCm39)	Y740H	possibly damaging	Het
Stab2	A	G	10: 86,690,985 (GRCm39)	C745R	probably damaging	Het
Tmem101	A	T	11: 102,046,611 (GRCm39)	L86Q	probably damaging	Het
Tmtc3	A	C	10: 100,313,702 (GRCm39)	F57V	probably damaging	Het
Vps50	A	G	6: 3,594,771 (GRCm39)	K778R	possibly damaging	Het
Washc5	G	A	15: 59,218,691 (GRCm39)	T692M	probably damaging	Het
Zc3hav1	A	T	6: 38,309,685 (GRCm39)	V379D	probably damaging	Het
Zfp142	G	T	1: 74,615,437 (GRCm39)	R459S	probably benign	Het
Zfp512b	A	G	2: 181,231,553 (GRCm39)	V199A	probably damaging	Het

Other mutations in Frem2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00895:Frem2	APN	3	53,493,016 (GRCm39)	missense	probably damaging	1.00
IGL00911:Frem2	APN	3	53,479,883 (GRCm39)	missense	probably damaging	1.00
IGL01322:Frem2	APN	3	53,448,459 (GRCm39)	missense	probably benign	0.00
IGL01330:Frem2	APN	3	53,562,662 (GRCm39)	missense	possibly damaging	0.70
IGL01406:Frem2	APN	3	53,433,317 (GRCm39)	missense	probably damaging	1.00
IGL01556:Frem2	APN	3	53,442,702 (GRCm39)	missense	probably benign	0.23
IGL01580:Frem2	APN	3	53,562,596 (GRCm39)	missense	probably damaging	1.00
IGL01606:Frem2	APN	3	53,561,012 (GRCm39)	missense	possibly damaging	0.69
IGL01611:Frem2	APN	3	53,563,130 (GRCm39)	missense	probably benign	0.00
IGL01648:Frem2	APN	3	53,443,153 (GRCm39)	missense	possibly damaging	0.86
IGL01663:Frem2	APN	3	53,424,434 (GRCm39)	missense	probably damaging	1.00
IGL01665:Frem2	APN	3	53,457,083 (GRCm39)	missense	probably benign	0.07
IGL01670:Frem2	APN	3	53,564,358 (GRCm39)	missense	possibly damaging	0.95
IGL01960:Frem2	APN	3	53,429,725 (GRCm39)	missense	probably benign	0.33
IGL02175:Frem2	APN	3	53,563,020 (GRCm39)	missense	possibly damaging	0.69
IGL02201:Frem2	APN	3	53,427,061 (GRCm39)	missense	probably benign	0.35
IGL02202:Frem2	APN	3	53,562,220 (GRCm39)	missense	probably benign	0.00
IGL02427:Frem2	APN	3	53,443,184 (GRCm39)	missense	probably damaging	0.97
IGL02457:Frem2	APN	3	53,428,470 (GRCm39)	missense	probably damaging	0.99
IGL02638:Frem2	APN	3	53,458,767 (GRCm39)	missense	possibly damaging	0.94
IGL02801:Frem2	APN	3	53,559,596 (GRCm39)	missense	possibly damaging	0.85
IGL03023:Frem2	APN	3	53,563,049 (GRCm39)	missense	probably benign	0.40
IGL03169:Frem2	APN	3	53,429,713 (GRCm39)	missense	probably benign	0.01
IGL03251:Frem2	APN	3	53,479,729 (GRCm39)	missense	probably benign	0.01
IGL03273:Frem2	APN	3	53,444,930 (GRCm39)	nonsense	probably null
IGL03343:Frem2	APN	3	53,559,674 (GRCm39)	missense	probably damaging	1.00
Biosimilar	UTSW	3	53,561,744 (GRCm39)	missense	probably benign	0.01
Fruit_stripe	UTSW	3	53,444,910 (GRCm39)	missense	probably benign	0.21
PIT4366001:Frem2	UTSW	3	53,560,622 (GRCm39)	missense	probably damaging	0.98
R0019:Frem2	UTSW	3	53,431,099 (GRCm39)	missense	probably damaging	0.99
R0092:Frem2	UTSW	3	53,497,217 (GRCm39)	missense	probably benign	0.03
R0108:Frem2	UTSW	3	53,555,382 (GRCm39)	missense	probably benign	0.03
R0115:Frem2	UTSW	3	53,563,629 (GRCm39)	missense	probably damaging	0.99
R0118:Frem2	UTSW	3	53,442,664 (GRCm39)	nonsense	probably null
R0374:Frem2	UTSW	3	53,561,381 (GRCm39)	missense	probably damaging	1.00
R0437:Frem2	UTSW	3	53,560,436 (GRCm39)	missense	possibly damaging	0.96
R0531:Frem2	UTSW	3	53,427,375 (GRCm39)	missense	probably damaging	1.00
R0555:Frem2	UTSW	3	53,424,281 (GRCm39)	missense	probably damaging	0.97
R0564:Frem2	UTSW	3	53,563,530 (GRCm39)	missense	probably damaging	0.97
R0586:Frem2	UTSW	3	53,555,342 (GRCm39)	missense	probably damaging	0.99
R0726:Frem2	UTSW	3	53,427,047 (GRCm39)	missense	possibly damaging	0.89
R0925:Frem2	UTSW	3	53,561,394 (GRCm39)	missense	probably benign
R1233:Frem2	UTSW	3	53,455,199 (GRCm39)	missense	probably damaging	0.98
R1302:Frem2	UTSW	3	53,562,959 (GRCm39)	missense	probably benign	0.00
R1333:Frem2	UTSW	3	53,457,152 (GRCm39)	missense	probably benign	0.26
R1446:Frem2	UTSW	3	53,562,017 (GRCm39)	missense	probably benign	0.31
R1523:Frem2	UTSW	3	53,562,828 (GRCm39)	missense	possibly damaging	0.73
R1539:Frem2	UTSW	3	53,561,631 (GRCm39)	missense	probably benign	0.19
R1543:Frem2	UTSW	3	53,479,876 (GRCm39)	missense	possibly damaging	0.86
R1597:Frem2	UTSW	3	53,561,940 (GRCm39)	missense	probably benign	0.19
R1600:Frem2	UTSW	3	53,455,144 (GRCm39)	missense	probably damaging	1.00
R1678:Frem2	UTSW	3	53,427,359 (GRCm39)	missense	probably damaging	1.00
R1687:Frem2	UTSW	3	53,561,373 (GRCm39)	missense	probably benign
R1696:Frem2	UTSW	3	53,563,463 (GRCm39)	nonsense	probably null
R1758:Frem2	UTSW	3	53,560,778 (GRCm39)	missense	probably damaging	1.00
R1857:Frem2	UTSW	3	53,562,294 (GRCm39)	missense	probably benign	0.10
R1869:Frem2	UTSW	3	53,442,617 (GRCm39)	missense	probably benign	0.04
R1921:Frem2	UTSW	3	53,560,916 (GRCm39)	missense	possibly damaging	0.76
R1973:Frem2	UTSW	3	53,559,653 (GRCm39)	missense	probably benign	0.01
R2045:Frem2	UTSW	3	53,443,165 (GRCm39)	missense	probably damaging	1.00
R2113:Frem2	UTSW	3	53,560,343 (GRCm39)	missense	probably damaging	1.00
R2152:Frem2	UTSW	3	53,424,450 (GRCm39)	nonsense	probably null
R2164:Frem2	UTSW	3	53,444,751 (GRCm39)	missense	probably damaging	1.00
R2181:Frem2	UTSW	3	53,482,008 (GRCm39)	missense	possibly damaging	0.72
R2201:Frem2	UTSW	3	53,423,994 (GRCm39)	missense	probably benign
R2221:Frem2	UTSW	3	53,424,278 (GRCm39)	missense	probably benign	0.00
R2255:Frem2	UTSW	3	53,559,935 (GRCm39)	missense	probably damaging	0.96
R2280:Frem2	UTSW	3	53,479,844 (GRCm39)	missense	probably damaging	1.00
R3196:Frem2	UTSW	3	53,444,752 (GRCm39)	missense	probably damaging	1.00
R3716:Frem2	UTSW	3	53,479,781 (GRCm39)	missense	probably damaging	1.00
R3807:Frem2	UTSW	3	53,560,870 (GRCm39)	missense	probably benign	0.22
R3820:Frem2	UTSW	3	53,424,270 (GRCm39)	missense	probably damaging	1.00
R3821:Frem2	UTSW	3	53,559,836 (GRCm39)	missense	probably damaging	1.00
R3977:Frem2	UTSW	3	53,559,491 (GRCm39)	missense	probably benign	0.00
R3979:Frem2	UTSW	3	53,559,491 (GRCm39)	missense	probably benign	0.00
R4014:Frem2	UTSW	3	53,559,774 (GRCm39)	missense	probably benign	0.01
R4127:Frem2	UTSW	3	53,433,317 (GRCm39)	missense	probably damaging	1.00
R4195:Frem2	UTSW	3	53,446,689 (GRCm39)	missense	possibly damaging	0.90
R4196:Frem2	UTSW	3	53,446,689 (GRCm39)	missense	possibly damaging	0.90
R4374:Frem2	UTSW	3	53,452,923 (GRCm39)	missense	possibly damaging	0.61
R4427:Frem2	UTSW	3	53,446,583 (GRCm39)	critical splice donor site	probably null
R4428:Frem2	UTSW	3	53,561,759 (GRCm39)	missense	probably benign	0.40
R4559:Frem2	UTSW	3	53,561,742 (GRCm39)	missense	probably benign	0.01
R4600:Frem2	UTSW	3	53,455,228 (GRCm39)	missense	possibly damaging	0.96
R4602:Frem2	UTSW	3	53,455,228 (GRCm39)	missense	possibly damaging	0.96
R4610:Frem2	UTSW	3	53,455,228 (GRCm39)	missense	possibly damaging	0.96
R4611:Frem2	UTSW	3	53,455,228 (GRCm39)	missense	possibly damaging	0.96
R4661:Frem2	UTSW	3	53,562,864 (GRCm39)	missense	probably damaging	1.00
R4678:Frem2	UTSW	3	53,451,792 (GRCm39)	missense	probably benign	0.00
R4689:Frem2	UTSW	3	53,455,056 (GRCm39)	missense	probably benign	0.43
R4740:Frem2	UTSW	3	53,443,240 (GRCm39)	missense	probably benign	0.04
R4748:Frem2	UTSW	3	53,448,514 (GRCm39)	missense	probably damaging	1.00
R4790:Frem2	UTSW	3	53,424,162 (GRCm39)	missense	probably benign
R4809:Frem2	UTSW	3	53,561,316 (GRCm39)	missense	probably benign	0.01
R4930:Frem2	UTSW	3	53,563,736 (GRCm39)	missense	possibly damaging	0.93
R4971:Frem2	UTSW	3	53,446,604 (GRCm39)	missense	probably damaging	1.00
R5057:Frem2	UTSW	3	53,442,617 (GRCm39)	missense	probably benign	0.37
R5202:Frem2	UTSW	3	53,458,767 (GRCm39)	missense	probably benign	0.41
R5221:Frem2	UTSW	3	53,493,032 (GRCm39)	missense	probably damaging	1.00
R5231:Frem2	UTSW	3	53,429,716 (GRCm39)	missense	probably damaging	1.00
R5268:Frem2	UTSW	3	53,560,575 (GRCm39)	missense	probably damaging	0.96
R5480:Frem2	UTSW	3	53,563,928 (GRCm39)	nonsense	probably null
R5637:Frem2	UTSW	3	53,560,358 (GRCm39)	missense	probably damaging	0.97
R5664:Frem2	UTSW	3	53,559,911 (GRCm39)	missense	probably benign	0.33
R5698:Frem2	UTSW	3	53,559,926 (GRCm39)	missense	possibly damaging	0.89
R5744:Frem2	UTSW	3	53,563,380 (GRCm39)	missense	probably damaging	1.00
R5754:Frem2	UTSW	3	53,444,679 (GRCm39)	missense	probably damaging	1.00
R5808:Frem2	UTSW	3	53,559,984 (GRCm39)	missense	probably damaging	0.96
R5840:Frem2	UTSW	3	53,555,342 (GRCm39)	missense	probably damaging	0.99
R5874:Frem2	UTSW	3	53,444,910 (GRCm39)	missense	probably benign	0.21
R6050:Frem2	UTSW	3	53,560,433 (GRCm39)	missense	probably damaging	0.99
R6103:Frem2	UTSW	3	53,457,209 (GRCm39)	missense	probably benign	0.00
R6149:Frem2	UTSW	3	53,458,762 (GRCm39)	missense	probably damaging	0.98
R6182:Frem2	UTSW	3	53,555,390 (GRCm39)	missense	probably damaging	1.00
R6191:Frem2	UTSW	3	53,562,701 (GRCm39)	missense	probably benign	0.10
R6245:Frem2	UTSW	3	53,563,245 (GRCm39)	missense	probably benign	0.00
R6252:Frem2	UTSW	3	53,479,869 (GRCm39)	missense	probably damaging	1.00
R6393:Frem2	UTSW	3	53,493,061 (GRCm39)	missense	possibly damaging	0.91
R6416:Frem2	UTSW	3	53,479,799 (GRCm39)	missense	probably benign	0.01
R6595:Frem2	UTSW	3	53,457,205 (GRCm39)	missense	probably damaging	1.00
R6665:Frem2	UTSW	3	53,562,077 (GRCm39)	missense	probably damaging	1.00
R6708:Frem2	UTSW	3	53,492,922 (GRCm39)	missense	probably benign	0.00
R6751:Frem2	UTSW	3	53,561,086 (GRCm39)	missense	probably damaging	1.00
R6787:Frem2	UTSW	3	53,561,744 (GRCm39)	missense	probably benign	0.01
R6913:Frem2	UTSW	3	53,424,242 (GRCm39)	missense	probably damaging	1.00
R6916:Frem2	UTSW	3	53,455,109 (GRCm39)	missense	probably damaging	1.00
R7017:Frem2	UTSW	3	53,427,023 (GRCm39)	missense	probably benign	0.02
R7083:Frem2	UTSW	3	53,444,914 (GRCm39)	missense	probably damaging	0.99
R7108:Frem2	UTSW	3	53,560,934 (GRCm39)	missense	probably damaging	1.00
R7133:Frem2	UTSW	3	53,479,760 (GRCm39)	missense	possibly damaging	0.82
R7326:Frem2	UTSW	3	53,562,174 (GRCm39)	missense	probably damaging	1.00
R7341:Frem2	UTSW	3	53,561,916 (GRCm39)	missense	probably damaging	1.00
R7455:Frem2	UTSW	3	53,479,701 (GRCm39)	splice site	probably null
R7487:Frem2	UTSW	3	53,561,970 (GRCm39)	missense	probably benign	0.40
R7495:Frem2	UTSW	3	53,424,258 (GRCm39)	missense	probably benign	0.13
R7542:Frem2	UTSW	3	53,560,000 (GRCm39)	missense	probably damaging	1.00
R7636:Frem2	UTSW	3	53,560,668 (GRCm39)	missense	probably benign	0.00
R7703:Frem2	UTSW	3	53,429,589 (GRCm39)	missense	probably benign	0.01
R7750:Frem2	UTSW	3	53,431,103 (GRCm39)	missense	possibly damaging	0.83
R7849:Frem2	UTSW	3	53,479,795 (GRCm39)	missense	probably damaging	1.00
R7922:Frem2	UTSW	3	53,560,725 (GRCm39)	missense	probably damaging	0.98
R8008:Frem2	UTSW	3	53,560,331 (GRCm39)	missense	probably damaging	1.00
R8051:Frem2	UTSW	3	53,442,776 (GRCm39)	missense	probably benign	0.04
R8052:Frem2	UTSW	3	53,457,064 (GRCm39)	missense	probably benign	0.02
R8176:Frem2	UTSW	3	53,562,761 (GRCm39)	missense	possibly damaging	0.50
R8220:Frem2	UTSW	3	53,563,928 (GRCm39)	nonsense	probably null
R8397:Frem2	UTSW	3	53,560,562 (GRCm39)	missense	probably benign	0.00
R8410:Frem2	UTSW	3	53,446,598 (GRCm39)	missense	possibly damaging	0.60
R8697:Frem2	UTSW	3	53,433,249 (GRCm39)	missense	probably damaging	0.99
R9134:Frem2	UTSW	3	53,562,321 (GRCm39)	missense	probably damaging	1.00
R9183:Frem2	UTSW	3	53,427,486 (GRCm39)	missense	probably damaging	1.00
R9260:Frem2	UTSW	3	53,560,204 (GRCm39)	missense	probably damaging	1.00
R9267:Frem2	UTSW	3	53,564,504 (GRCm39)	start codon destroyed	probably null	0.00
R9299:Frem2	UTSW	3	53,563,980 (GRCm39)	missense	probably benign	0.37
R9378:Frem2	UTSW	3	53,559,410 (GRCm39)	missense	probably damaging	0.99
R9444:Frem2	UTSW	3	53,560,265 (GRCm39)	missense	probably benign	0.10
R9459:Frem2	UTSW	3	53,560,907 (GRCm39)	missense	probably benign
R9487:Frem2	UTSW	3	53,560,905 (GRCm39)	missense	possibly damaging	0.95
R9728:Frem2	UTSW	3	53,564,052 (GRCm39)	missense	probably benign	0.00
R9759:Frem2	UTSW	3	53,562,918 (GRCm39)	missense	possibly damaging	0.76
Z1177:Frem2	UTSW	3	53,563,028 (GRCm39)	missense	probably benign	0.31
Z1177:Frem2	UTSW	3	53,442,587 (GRCm39)	missense	probably null	1.00

Posted On

2016-08-02