Mutagenetix > Incidental Mutation

Incidental Mutation 'R9378:Frem2'

709756

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9378 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

53513938-53657355 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 53651989 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 1699 (L1699H)

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: L1699H

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000088670
Gene: ENSMUSG00000037016
AA Change: L1699H

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700007K13Rik	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	2: 28,466,110		probably benign	Het
2210408I21Rik	A	G	13: 77,323,616	K1047E	possibly damaging	Het
Abca14	A	T	7: 120,207,968	Y79F	possibly damaging	Het
Abca2	T	A	2: 25,439,082	M978K	probably benign	Het
Adamts3	A	T	5: 89,700,410	C684*	probably null	Het
Adnp2	T	C	18: 80,129,422	T591A	probably benign	Het
Aff4	A	T	11: 53,372,479	T109S	probably damaging	Het
Agmo	A	G	12: 37,243,721	I48V	probably benign	Het
Appl1	G	A	14: 26,927,827	R581*	probably null	Het
Armc9	A	T	1: 86,262,044	M714L	probably benign	Het
Atp6v0d2	T	A	4: 19,922,377	T41S	probably benign	Het
Bin1	A	T	18: 32,419,868	Q182L	probably damaging	Het
Bmp10	A	G	6: 87,433,702	D159G	probably benign	Het
Bsn	G	A	9: 108,107,655	P295S	possibly damaging	Het
C130079G13Rik	A	G	3: 59,931,689	T11A	possibly damaging	Het
Cbx6	A	G	15: 79,828,405	S274P	probably damaging	Het
Cdc20b	A	G	13: 113,056,097	K108R	probably benign	Het
Ces1d	T	A	8: 93,186,096	N238I	probably damaging	Het
Col7a1	C	T	9: 108,958,640	Q663*	probably null	Het
Cpsf3	T	C	12: 21,308,038	I517T	possibly damaging	Het
Cyp2a5	C	A	7: 26,840,454	T309N	probably damaging	Het
Cyp2d40	A	G	15: 82,761,601	F68L	possibly damaging	Het
Cyp7b1	A	T	3: 18,096,673	W301R	probably damaging	Het
Dnah6	T	A	6: 73,212,530	N45I	probably benign	Het
Dnah7a	A	T	1: 53,582,617	H1116Q	probably benign	Het
Dntt	A	G	19: 41,038,917	N141S	probably benign	Het
Fbxl13	T	C	5: 21,585,203	N281D	probably damaging	Het
Gabrr3	T	C	16: 59,461,674	V464A	possibly damaging	Het
Gdap1	T	A	1: 17,157,129	I160N	probably damaging	Het
Hnrnpll	C	A	17: 80,061,862	R44L	unknown	Het
Hsp90ab1	T	C	17: 45,570,754	E187G	probably damaging	Het
Ighm	T	A	12: 113,422,590	T47S		Het
Itgb7	A	C	15: 102,227,396		probably null	Het
Kif16b	A	T	2: 142,619,818	C1293*	probably null	Het
Klf11	C	T	12: 24,655,044	R166C	probably benign	Het
Lca5l	T	A	16: 96,176,012	Q198L	probably damaging	Het
Lnx2	A	T	5: 147,024,370	M584K	probably benign	Het
Lpp	A	T	16: 24,721,987	M1L	probably benign	Het
Lrig3	A	G	10: 125,997,084	T276A	probably damaging	Het
Ltbp2	G	A	12: 84,791,090	P1192L	probably benign	Het
Megf8	A	T	7: 25,340,415		probably null	Het
Myh1	A	C	11: 67,202,433	T117P	probably damaging	Het
Neb	C	A	2: 52,244,101	R3290L	possibly damaging	Het
Neb	A	C	2: 52,247,292	V220G		Het
Nktr	A	T	9: 121,748,198	K444I	probably damaging	Het
Nol11	A	T	11: 107,173,679	M483K	probably benign	Het
Npy1r	C	A	8: 66,704,209	P94T	probably damaging	Het
Nsmaf	T	C	4: 6,440,940	T37A	probably benign	Het
Olfr1137	C	A	2: 87,711,079	V276F	possibly damaging	Het
Olfr1224-ps1	T	C	2: 89,157,055	N40S	probably damaging	Het
Olfr131	G	A	17: 38,082,165	A271V	possibly damaging	Het
Olfr160	A	G	9: 37,712,177	I34T	probably damaging	Het
Olfr286	A	G	15: 98,227,039	L204P	possibly damaging	Het
Olfr624	A	T	7: 103,670,182	M283K	probably damaging	Het
Olfr884	G	A	9: 38,047,479	V86M	possibly damaging	Het
Palld	C	T	8: 61,516,657	R1211H	unknown	Het
Pcdha3	A	G	18: 36,947,231	D342G	probably damaging	Het
Pclo	G	A	5: 14,765,863	V1266I		Het
Pcnx4	T	C	12: 72,555,890	Y309H	probably damaging	Het
Pde8a	C	T	7: 81,332,871	T746I	probably damaging	Het
Pdzrn3	T	G	6: 101,150,811	K965Q	probably damaging	Het
Phldb1	G	A	9: 44,704,128	A225V	probably benign	Het
Plat	A	G	8: 22,775,583	Y214C	probably damaging	Het
Plppr1	T	A	4: 49,325,627	C274*	probably null	Het
Poglut1	A	G	16: 38,526,771	F345L	possibly damaging	Het
Ppara	A	T	15: 85,777,636	E26V	possibly damaging	Het
Ppcdc	A	T	9: 57,420,288	W79R	probably damaging	Het
Prdm1	C	T	10: 44,440,154	C662Y	probably damaging	Het
Sgms2	G	A	3: 131,342,362		probably benign	Het
Slc31a1	T	A	4: 62,388,606	M133K	probably damaging	Het
Smg1	G	A	7: 118,178,775	Q1309*	probably null	Het
Sos1	T	C	17: 80,453,810	I152M	probably damaging	Het
Stk4	A	T	2: 164,110,216		probably benign	Het
Syne1	T	G	10: 5,250,954	N3538T	probably damaging	Het
Tbc1d16	A	G	11: 119,208,840	F236S	probably damaging	Het
Tgs1	T	A	4: 3,595,475	M548K	probably benign	Het
Twf1	G	A	15: 94,585,455	T124I	probably damaging	Het
Tyro3	G	A	2: 119,812,167	G611R	probably damaging	Het
Unc13b	T	A	4: 43,173,282	I1370K	unknown	Het
Usp40	A	G	1: 87,957,310	W939R	probably damaging	Het
Vamp8	A	T	6: 72,385,571	V82E	probably damaging	Het
Vmn2r17	A	G	5: 109,427,866	H201R	possibly damaging	Het
Whrn	T	C	4: 63,431,842	H546R	probably benign	Het
Yeats2	T	C	16: 20,214,478	V1036A	probably benign	Het
Zfp352	T	G	4: 90,224,338	N238K	probably benign	Het
Zfp36l3	TCCAGGGGCGAGGGCAGCCCCAGGAGCAAGGGCCGCCCTAGGAATGAGGGCCGCCCCAGG	TCCAGG	X: 53,774,554		probably benign	Het
Zfp462	T	A	4: 55,011,510	S1159T	probably benign	Het
Zscan4-ps1	A	T	7: 11,066,265	H232Q	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
R4678:Frem2	UTSW	3	53544371	missense	probably benign	0.00
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
R7922:Frem2	UTSW	3	53653304	missense	probably damaging	0.98
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
R8176:Frem2	UTSW	3	53655340	missense	possibly damaging	0.50
R8220:Frem2	UTSW	3	53656507	nonsense	probably null
R8397:Frem2	UTSW	3	53653141	missense	probably benign	0.00
R8410:Frem2	UTSW	3	53539177	missense	possibly damaging	0.60
R8697:Frem2	UTSW	3	53525828	missense	probably damaging	0.99
R9134:Frem2	UTSW	3	53654900	missense	probably damaging	1.00
R9183:Frem2	UTSW	3	53520065	missense	probably damaging	1.00
R9260:Frem2	UTSW	3	53652783	missense	probably damaging	1.00
R9267:Frem2	UTSW	3	53657083	start codon destroyed	probably null	0.00
R9299:Frem2	UTSW	3	53656559	missense	probably benign	0.37
R9444:Frem2	UTSW	3	53652844	missense	probably benign	0.10
R9459:Frem2	UTSW	3	53653486	missense	probably benign
R9487:Frem2	UTSW	3	53653484	missense	possibly damaging	0.95
R9728:Frem2	UTSW	3	53656631	missense	probably benign	0.00
R9759:Frem2	UTSW	3	53655497	missense	possibly damaging	0.76
Z1177:Frem2	UTSW	3	53655607	missense	probably benign	0.31
Z1177:Frem2	UTSW	3	53535166	missense	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- TTCCTTGGACTGAGGGCATC -3'
(R):5'- CCTCAAGTGATGAAAATCCAGGTG -3'

Sequencing Primer
(F):5'- AGGGCATCTGTGTGCTCTCC -3'
(R):5'- GTGATGAAAATCCAGGTGTTACC -3'

Posted On

2022-04-18