Mutagenetix > Incidental Mutations

Incidental Mutation 'R7392:Frem1'

573494

Institutional Source

Beutler Lab

Gene Symbol

Frem1

Ensembl Gene

ENSMUSG00000059049

Gene Name

Fras1 related extracellular matrix protein 1

Synonyms

eyes2, heb, eye, crf11, QBRICK

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.731) question?

Stock #

R7392 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

82897920-83052339 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 83013827 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 212 (F212L)

Ref Sequence

ENSEMBL: ENSMUSP00000071627 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071708] [ENSMUST00000107230] [ENSMUST00000170248]

Predicted Effect

probably benign
Transcript: ENSMUST00000071708
AA Change: F212L

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000071627
Gene: ENSMUSG00000059049
AA Change: F212L

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
Pfam:Cadherin_3	364	508	1.7e-37	PFAM
Pfam:Cadherin_3	509	623	3.7e-18	PFAM
Pfam:Cadherin_3	592	709	8.4e-16	PFAM
Pfam:Cadherin_3	746	894	4.8e-26	PFAM
Pfam:Cadherin_3	863	1009	2.8e-30	PFAM
Pfam:Cadherin_3	1024	1115	6.4e-13	PFAM
Pfam:Cadherin_3	1119	1252	1.4e-17	PFAM
Pfam:Cadherin_3	1243	1393	8.2e-35	PFAM
Pfam:Cadherin_3	1378	1506	2e-22	PFAM
Pfam:Cadherin_3	1506	1616	1e-29	PFAM
Pfam:Cadherin_3	1617	1744	1.5e-14	PFAM
Pfam:Calx-beta	1749	1848	2.6e-10	PFAM
low complexity region	1894	1910	N/A	INTRINSIC
CLECT	2065	2188	2.25e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107230
AA Change: F212L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000102849
Gene: ENSMUSG00000059049
AA Change: F212L

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
internal_repeat_1	296	967	9.01e-39	PROSPERO
internal_repeat_1	1026	1705	9.01e-39	PROSPERO
Pfam:Calx-beta	1730	1829	6.7e-10	PFAM
low complexity region	1875	1891	N/A	INTRINSIC
CLECT	2046	2169	2.25e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000170248
AA Change: F212L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000125809
Gene: ENSMUSG00000059049
AA Change: F212L

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
Pfam:Cadherin_3	365	509	1.3e-37	PFAM
Pfam:Cadherin_3	510	623	4.5e-18	PFAM
Pfam:Cadherin_3	593	711	6.1e-16	PFAM
Pfam:Cadherin_3	728	876	2.7e-27	PFAM
Pfam:Cadherin_3	845	991	2.1e-30	PFAM
Pfam:Cadherin_3	1006	1097	4.8e-13	PFAM
Pfam:Cadherin_3	1101	1234	1e-17	PFAM
Pfam:Cadherin_3	1225	1375	6.1e-35	PFAM
Pfam:Cadherin_3	1360	1488	1.5e-22	PFAM
Pfam:Cadherin_3	1488	1598	7.5e-30	PFAM
Pfam:Cadherin_3	1599	1726	1.1e-14	PFAM
Pfam:Calx-beta	1731	1830	6.4e-10	PFAM
low complexity region	1876	1892	N/A	INTRINSIC
CLECT	2047	2170	2.25e-27	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a basement membrane protein that may play a role in craniofacial and renal development. Mutations in this gene have been associated with bifid nose with or without anorectal and renal anomalies. Alternatively spliced transcript variants encoding different isoforms have been described. PubMed ID 19940113 describes one such variant that initiates transcription within a distinct, internal exon; the resulting shorter isoform (named Toll-like/interleukin-1 receptor regulator, TILRR) is suggested to be a co-receptor of the interleukin 1 receptor family and may regulate receptor function and Toll-like receptor/interleukin 1 receptor signal transduction, contributing to the control of inflammatory response activation. [provided by RefSeq, Apr 2011]
PHENOTYPE: Homozygous mutation of this gene results in subepidermal blistering, cryptophthalmos, syndactyly, and renal agenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	T	A	7: 41,626,566	F564L	probably damaging	Het
4930539E08Rik	A	T	17: 28,908,377	D219E	probably benign	Het
9530053A07Rik	C	T	7: 28,164,372	T2523M	possibly damaging	Het
Abcc2	T	C	19: 43,808,687	I499T	probably damaging	Het
Adamts13	C	T	2: 26,989,324	R630C	probably damaging	Het
Adgrv1	A	T	13: 81,560,689	F1199I	probably damaging	Het
Agbl5	G	A	5: 30,890,771		probably null	Het
Anks1b	A	G	10: 90,680,786	D881G	possibly damaging	Het
Arap2	A	T	5: 62,698,385	S569R	possibly damaging	Het
Arhgap15	T	C	2: 44,063,774	S171P	possibly damaging	Het
Arhgef11	G	A	3: 87,717,175		probably null	Het
Baz1a	C	A	12: 54,898,765	L1271F	probably damaging	Het
Bdnf	A	C	2: 109,723,930	K216N	probably benign	Het
Bmp7	C	T	2: 172,870,205	D409N	probably damaging	Het
Cacna1c	T	A	6: 118,741,920	I390F		Het
Chd8	A	G	14: 52,232,855	S433P	probably benign	Het
Clrn2	A	G	5: 45,463,909	E215G	possibly damaging	Het
Col19a1	T	G	1: 24,534,034	D219A	unknown	Het
Col2a1	G	A	15: 97,980,151	R1036*	probably null	Het
Copg1	T	A	6: 87,890,275	V110D	probably benign	Het
Cpd	C	T	11: 76,801,779	G744D	probably damaging	Het
Crygs	G	A	16: 22,806,502	P63L	probably benign	Het
Dcn	A	G	10: 97,509,998	D224G	probably damaging	Het
Dnah7a	T	C	1: 53,501,661	E2518G	probably benign	Het
Efcab6	C	A	15: 83,988,951	R197L	probably benign	Het
Efr3b	T	A	12: 3,969,588	Y723F	probably benign	Het
Enam	A	G	5: 88,501,664	N344S	probably damaging	Het
Erich4	A	G	7: 25,615,676	I58T	possibly damaging	Het
Esrp1	A	G	4: 11,338,809	V665A	probably benign	Het
Etf1	G	A	18: 34,906,050	T388I	probably benign	Het
Faf1	A	G	4: 109,794,843	T244A	probably benign	Het
Fam129a	A	G	1: 151,696,224	T307A	probably damaging	Het
Fbn1	T	C	2: 125,343,924	D1610G	probably damaging	Het
Fuom	T	A	7: 140,101,160	D85V	probably damaging	Het
Gcfc2	T	C	6: 81,943,012		probably null	Het
Gpr37	C	T	6: 25,688,787	A104T	probably benign	Het
Hsp90ab1	G	C	17: 45,569,048	T514S	probably benign	Het
Ifnl2	A	G	7: 28,509,669	F74L	probably benign	Het
Ipo11	G	A	13: 106,891,691	R367*	probably null	Het
Itpr2	T	C	6: 146,359,340	D963G	possibly damaging	Het
Krt15	A	T	11: 100,135,560	V100E	possibly damaging	Het
Lrch3	T	A	16: 32,986,755	L466*	probably null	Het
Lrfn5	A	T	12: 61,840,304	T293S	probably benign	Het
Lrp5	A	G	19: 3,610,199	I955T	probably damaging	Het
Lrrc4b	C	T	7: 44,462,015	T437M	probably damaging	Het
Man1a	A	G	10: 53,919,187	Y657H	probably damaging	Het
Mapkap1	G	T	2: 34,435,154	R94L	probably damaging	Het
Mtmr4	T	A	11: 87,604,557	L480Q	probably damaging	Het
Mycbp2	T	C	14: 103,152,191	I3504M	probably damaging	Het
Mycbp2	A	T	14: 103,243,128	C1169S	probably damaging	Het
Myo15	T	C	11: 60,505,976	S1455P		Het
Nid2	A	G	14: 19,768,656	D406G	probably benign	Het
Nrip2	A	G	6: 128,404,950	I69V	probably benign	Het
Nthl1	G	A	17: 24,638,624	V266I	probably benign	Het
Olfr1000	A	C	2: 85,608,488	C141G	possibly damaging	Het
Olfr1061	A	G	2: 86,413,152	V300A	probably benign	Het
Olfr1440	G	T	19: 12,394,465	L67F	probably damaging	Het
Olfr1444	A	G	19: 12,862,587	T271A	probably benign	Het
Olfr284	A	G	15: 98,340,311	V226A	probably benign	Het
Olfr501-ps1	C	A	7: 108,508,084	H9Q	possibly damaging	Het
Olfr698	T	C	7: 106,753,382	E2G	possibly damaging	Het
Pcdhb1	A	C	18: 37,265,118	S41R	possibly damaging	Het
Pdcd11	T	A	19: 47,127,997	F1529I	probably damaging	Het
Plcd3	C	A	11: 103,101,557		probably benign	Het
Qdpr	T	C	5: 45,439,376	M149V	probably benign	Het
R3hcc1	T	A	14: 69,705,880		probably null	Het
Rasgrf2	T	C	13: 91,893,737	Y392C		Het
Slc8a3	A	C	12: 81,314,803	V414G	probably damaging	Het
Slco1a6	A	G	6: 142,157,277	S54P	probably benign	Het
Sos1	C	A	17: 80,424,200	V624F	probably damaging	Het
Spdef	T	C	17: 27,717,288	D227G	probably benign	Het
Sptb	G	T	12: 76,624,229	Q447K	probably damaging	Het
Srsf12	A	T	4: 33,209,265	R62W	unknown	Het
Stag3	T	C	5: 138,291,366	L266P	probably damaging	Het
Sult2b1	T	C	7: 45,742,438		probably benign	Het
Taf1a	A	G	1: 183,409,276	T66A		Het
Tfg	A	T	16: 56,712,609		probably null	Het
Trim34b	A	G	7: 104,336,397	N413S	probably benign	Het
Txndc15	T	A	13: 55,721,586	M184K	probably damaging	Het
Umodl1	A	C	17: 30,982,332	S412R	probably damaging	Het
Zbtb8b	T	A	4: 129,432,890	M161L	probably benign	Het
Zfp597	A	T	16: 3,866,505	V129E	probably benign	Het
Zfp790	T	C	7: 29,828,625	I245T	possibly damaging	Het

Other mutations in Frem1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Frem1	APN	4	82959389	missense	possibly damaging	0.46
IGL01069:Frem1	APN	4	83013867	missense	probably benign	0.00
IGL01106:Frem1	APN	4	82922257	missense	probably benign	0.00
IGL01398:Frem1	APN	4	82950362	missense	possibly damaging	0.64
IGL01617:Frem1	APN	4	82936139	missense	probably benign	0.02
IGL01647:Frem1	APN	4	82950356	missense	possibly damaging	0.60
IGL01690:Frem1	APN	4	82959296	splice site	probably benign
IGL02006:Frem1	APN	4	82992800	critical splice donor site	probably null
IGL02069:Frem1	APN	4	82903551	missense	probably damaging	1.00
IGL02131:Frem1	APN	4	82924854	missense	probably benign	0.03
IGL02225:Frem1	APN	4	82940506	missense	probably damaging	1.00
IGL02439:Frem1	APN	4	82956345	missense	probably benign	0.00
IGL02567:Frem1	APN	4	83000055	missense	probably damaging	1.00
IGL02647:Frem1	APN	4	83001754	missense	probably damaging	1.00
IGL02653:Frem1	APN	4	82959334	missense	probably benign	0.22
IGL02831:Frem1	APN	4	82956158	missense	probably benign	0.31
IGL02997:Frem1	APN	4	82934968	missense	probably damaging	1.00
IGL03005:Frem1	APN	4	82994134	missense	probably damaging	1.00
IGL03036:Frem1	APN	4	82959339	missense	possibly damaging	0.55
IGL03193:Frem1	APN	4	82994026	splice site	probably benign
IGL03218:Frem1	APN	4	82914646	missense	probably benign	0.00
IGL03235:Frem1	APN	4	83020755	missense	possibly damaging	0.87
IGL03243:Frem1	APN	4	83013969	missense	probably damaging	1.00
bat	UTSW	4	82983060	intron	probably benign
PIT4131001:Frem1	UTSW	4	83005808	missense	probably damaging	0.99
PIT4466001:Frem1	UTSW	4	82972137	missense	probably benign	0.01
PIT4472001:Frem1	UTSW	4	82972137	missense	probably benign	0.01
PIT4515001:Frem1	UTSW	4	82900426	missense	probably damaging	0.98
PIT4531001:Frem1	UTSW	4	82950280	missense	probably benign	0.12
R0010:Frem1	UTSW	4	83000098	missense	probably benign	0.41
R0010:Frem1	UTSW	4	83000098	missense	probably benign	0.41
R0115:Frem1	UTSW	4	82936169	missense	possibly damaging	0.94
R0125:Frem1	UTSW	4	83011951	missense	probably damaging	1.00
R0280:Frem1	UTSW	4	82969444	missense	probably damaging	1.00
R0504:Frem1	UTSW	4	82912637	missense	probably benign	0.26
R0519:Frem1	UTSW	4	82970633	critical splice donor site	probably null
R0631:Frem1	UTSW	4	82972165	missense	probably damaging	1.00
R0645:Frem1	UTSW	4	82989166	missense	probably damaging	1.00
R0781:Frem1	UTSW	4	82950320	missense	probably damaging	0.99
R1110:Frem1	UTSW	4	82950320	missense	probably damaging	0.99
R1115:Frem1	UTSW	4	83020770	missense	probably benign	0.28
R1130:Frem1	UTSW	4	82916628	splice site	probably null
R1173:Frem1	UTSW	4	82950352	missense	probably benign	0.16
R1349:Frem1	UTSW	4	82922305	splice site	probably benign
R1464:Frem1	UTSW	4	83011879	missense	probably damaging	1.00
R1464:Frem1	UTSW	4	83011879	missense	probably damaging	1.00
R1658:Frem1	UTSW	4	83001808	missense	probably damaging	1.00
R1672:Frem1	UTSW	4	82998891	missense	probably benign	0.09
R1831:Frem1	UTSW	4	83020837	missense	possibly damaging	0.95
R1851:Frem1	UTSW	4	82950500	missense	probably damaging	0.98
R2014:Frem1	UTSW	4	83005852	missense	probably damaging	1.00
R2021:Frem1	UTSW	4	82913558	missense	probably benign	0.02
R2022:Frem1	UTSW	4	82913558	missense	probably benign	0.02
R2023:Frem1	UTSW	4	82913558	missense	probably benign	0.02
R2183:Frem1	UTSW	4	82991495	missense	probably benign	0.00
R2437:Frem1	UTSW	4	83000173	missense	probably damaging	1.00
R2520:Frem1	UTSW	4	82950290	missense	probably damaging	0.99
R3195:Frem1	UTSW	4	83014114	missense	probably damaging	0.99
R3196:Frem1	UTSW	4	83014114	missense	probably damaging	0.99
R3408:Frem1	UTSW	4	83011986	missense	probably damaging	1.00
R3411:Frem1	UTSW	4	82963179	missense	possibly damaging	0.51
R3742:Frem1	UTSW	4	83011867	missense	probably damaging	1.00
R3829:Frem1	UTSW	4	82998930	missense	probably damaging	1.00
R3888:Frem1	UTSW	4	82913607	missense	probably benign	0.41
R4329:Frem1	UTSW	4	82986537	missense	probably benign	0.01
R4364:Frem1	UTSW	4	82913251	missense	probably damaging	0.99
R4411:Frem1	UTSW	4	82963244	missense	probably damaging	1.00
R4624:Frem1	UTSW	4	82989106	missense	probably damaging	1.00
R4687:Frem1	UTSW	4	83020631	missense	probably damaging	1.00
R4764:Frem1	UTSW	4	82989189	missense	probably damaging	1.00
R4801:Frem1	UTSW	4	82916628	splice site	probably benign
R4802:Frem1	UTSW	4	82916628	splice site	probably benign
R4854:Frem1	UTSW	4	82916758	missense	possibly damaging	0.88
R4872:Frem1	UTSW	4	82963150	missense	probably damaging	1.00
R4947:Frem1	UTSW	4	82966134	missense	probably damaging	0.99
R5007:Frem1	UTSW	4	82940812	intron	probably benign
R5103:Frem1	UTSW	4	82991612	missense	probably benign
R5369:Frem1	UTSW	4	83001739	missense	possibly damaging	0.61
R5494:Frem1	UTSW	4	82940753	makesense	probably null
R5694:Frem1	UTSW	4	82994116	missense	probably damaging	1.00
R5780:Frem1	UTSW	4	82950415	missense	probably benign	0.12
R5813:Frem1	UTSW	4	83000158	missense	probably damaging	1.00
R5843:Frem1	UTSW	4	82936052	missense	probably damaging	1.00
R5914:Frem1	UTSW	4	83001775	missense	probably damaging	1.00
R5985:Frem1	UTSW	4	82966050	missense	probably benign
R6091:Frem1	UTSW	4	82900559	missense	probably benign	0.01
R6165:Frem1	UTSW	4	82956255	missense	probably benign	0.16
R6324:Frem1	UTSW	4	82983337	missense	probably benign	0.00
R6369:Frem1	UTSW	4	82913792	splice site	probably null
R6414:Frem1	UTSW	4	82940536	missense	probably damaging	0.98
R6421:Frem1	UTSW	4	82994128	missense	probably damaging	1.00
R6434:Frem1	UTSW	4	82966016	missense	probably benign	0.03
R6453:Frem1	UTSW	4	82914825	nonsense	probably null
R6598:Frem1	UTSW	4	83013828	missense	probably damaging	0.99
R6720:Frem1	UTSW	4	83013832	missense	probably damaging	0.98
R6862:Frem1	UTSW	4	83012014	nonsense	probably null
R6922:Frem1	UTSW	4	82922269	missense	probably damaging	1.00
R6931:Frem1	UTSW	4	82970677	missense	probably damaging	1.00
R6992:Frem1	UTSW	4	82940362	missense	possibly damaging	0.62
R6995:Frem1	UTSW	4	82986601	missense	probably damaging	1.00
R7001:Frem1	UTSW	4	82986561	missense	probably benign	0.44
R7104:Frem1	UTSW	4	82940681	missense	probably benign	0.30
R7146:Frem1	UTSW	4	82922295	missense	possibly damaging	0.93
R7174:Frem1	UTSW	4	82922256	missense	probably benign	0.00
R7327:Frem1	UTSW	4	83020755	missense	possibly damaging	0.87
R7343:Frem1	UTSW	4	82994122	missense	probably damaging	0.99
R7368:Frem1	UTSW	4	82966144	missense	probably benign	0.19
R7465:Frem1	UTSW	4	82914835	missense	probably benign	0.11
R7499:Frem1	UTSW	4	83005770	missense	probably damaging	1.00
R7536:Frem1	UTSW	4	82956195	missense	probably damaging	1.00
R7752:Frem1	UTSW	4	82959377	missense	probably benign	0.02
R7753:Frem1	UTSW	4	82913980	missense	probably benign	0.03
R7790:Frem1	UTSW	4	82989164	missense	probably benign	0.02
R7818:Frem1	UTSW	4	83014008	missense	probably damaging	1.00
R7877:Frem1	UTSW	4	83013812	critical splice donor site	probably null
R7878:Frem1	UTSW	4	83020680	missense	probably benign	0.00
R7886:Frem1	UTSW	4	83016406	missense	possibly damaging	0.68
R7901:Frem1	UTSW	4	82959377	missense	probably benign	0.02
R7976:Frem1	UTSW	4	83001709	missense	probably damaging	0.97
R8240:Frem1	UTSW	4	82956248	missense	probably benign	0.21
R8305:Frem1	UTSW	4	82999989	missense	probably benign	0.06
R8415:Frem1	UTSW	4	83000262	missense	probably damaging	1.00
X0013:Frem1	UTSW	4	82914808	missense	probably benign	0.38
X0017:Frem1	UTSW	4	82991633	critical splice acceptor site	probably null
Z1088:Frem1	UTSW	4	82972267	missense	probably damaging	1.00
Z1176:Frem1	UTSW	4	82999983	missense	probably damaging	1.00
Z1177:Frem1	UTSW	4	82940315	critical splice donor site	probably null
Z1177:Frem1	UTSW	4	83000269	missense	probably benign	0.39
Z1177:Frem1	UTSW	4	83016464	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GATTCTGATTCCAAATCCACAGCC -3'
(R):5'- ATCGCAAGCCATTGATAAGAAC -3'

Sequencing Primer
(F):5'- CCATGTAGGCCTGGTGATCAAATTC -3'
(R):5'- GATAAGAACCTGCTCCAGTTTG -3'

Posted On

2019-09-13