Mutagenetix > Incidental Mutation

Incidental Mutation 'R4427:Frem2'

328219

Institutional Source

Beutler Lab

Gene Symbol

Frem2

Ensembl Gene

ENSMUSG00000037016

Gene Name

Fras1 related extracellular matrix protein 2

Synonyms

8430406N05Rik, ne, 6030440P17Rik, b2b1562Clo, my

MMRRC Submission

041145-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4427 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53421359-53564776 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 53446583 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000088670 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000091137

SMART Domains

Protein: ENSMUSP00000088670
Gene: ENSMUSG00000037016

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

0.9494

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

96% (48/50)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	A	T	7: 29,278,678 (GRCm39)		noncoding transcript	Het
A2ml1	T	C	6: 128,522,009 (GRCm39)	E1271G	probably benign	Het
Ccdc88b	C	T	19: 6,827,940 (GRCm39)	E878K	probably damaging	Het
Cfap119	A	G	7: 127,187,288 (GRCm39)		probably benign	Het
Crybg3	T	C	16: 59,363,562 (GRCm39)	K2441E	probably damaging	Het
Cryga	A	T	1: 65,139,775 (GRCm39)	I121N	probably damaging	Het
Dst	A	T	1: 34,220,541 (GRCm39)	Q2115L	probably benign	Het
Evi2	T	A	11: 79,407,182 (GRCm39)	Q131L	possibly damaging	Het
Exoc1	A	G	5: 76,711,110 (GRCm39)	I61V	probably benign	Het
Firrm	A	G	1: 163,781,853 (GRCm39)	V858A	probably benign	Het
Gas2l1	A	G	11: 5,013,908 (GRCm39)	V184A	probably benign	Het
Gsto2	T	C	19: 47,860,212 (GRCm39)	S2P	possibly damaging	Het
Herc1	T	C	9: 66,403,287 (GRCm39)	L4402P	probably damaging	Het
Kcnd2	T	A	6: 21,216,896 (GRCm39)	I200N	probably damaging	Het
Klhl30	A	G	1: 91,281,426 (GRCm39)	D9G	probably damaging	Het
Ltf	C	A	9: 110,852,672 (GRCm39)	T178K	probably damaging	Het
Memo1	T	A	17: 74,509,302 (GRCm39)	Y239F	probably benign	Het
Ogdh	C	T	11: 6,305,421 (GRCm39)	T972I	probably benign	Het
Phactr4	T	C	4: 132,114,352 (GRCm39)	D24G	possibly damaging	Het
Pi4ka	C	T	16: 17,098,908 (GRCm39)	R1992H	probably damaging	Het
Poc1b	T	C	10: 98,991,001 (GRCm39)		probably null	Het
Ppp1r9b	A	T	11: 94,892,150 (GRCm39)	R188S	possibly damaging	Het
Pwwp2a	T	C	11: 43,573,344 (GRCm39)	V142A	possibly damaging	Het
Rab36	G	A	10: 74,880,328 (GRCm39)	V63I	probably damaging	Het
Rap1gap2	C	A	11: 74,298,148 (GRCm39)	A491S	possibly damaging	Het
Rcsd1	C	A	1: 165,483,464 (GRCm39)	V206L	probably damaging	Het
Rps6ka2	T	A	17: 7,566,804 (GRCm39)	D687E	possibly damaging	Het
Sgce	G	A	6: 4,691,459 (GRCm39)	A295V	probably damaging	Het
Siglec15	T	G	18: 78,086,836 (GRCm39)	E341A	possibly damaging	Het
Tcaim	T	C	9: 122,643,561 (GRCm39)	F87S	probably benign	Het
Thbs2	C	A	17: 14,900,597 (GRCm39)	V537L	probably benign	Het
Timd6	T	A	11: 46,475,247 (GRCm39)	F147L	probably benign	Het
Tmx3	T	A	18: 90,541,725 (GRCm39)	V158D	probably damaging	Het
Tpm1	A	G	9: 66,939,847 (GRCm39)		probably benign	Het
Trmt2a	A	G	16: 18,067,093 (GRCm39)		probably benign	Het
Ugcg	T	A	4: 59,219,555 (GRCm39)	F297L	probably benign	Het
Utp18	T	C	11: 93,757,264 (GRCm39)	N467D	probably damaging	Het
Vmn2r73	A	G	7: 85,506,981 (GRCm39)	F777S	probably damaging	Het
Vwc2	A	G	11: 11,104,235 (GRCm39)	T256A	probably damaging	Het
Zfp300	C	T	X: 20,949,405 (GRCm39)	V120I	possibly damaging	Het
Zfp982	A	T	4: 147,597,080 (GRCm39)	R146*	probably null	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
IGL03238:Frem2	APN	3	53,563,682 (GRCm39)	missense	possibly damaging	0.93
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
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

Predicted Primers

PCR Primer
(F):5'- CCGATGGTGACTGTCTTAAACC -3'
(R):5'- TGCTTCTAGGCAACCAAGGC -3'

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

Posted On

2015-07-07