Mutagenetix > Incidental Mutation

Incidental Mutation 'R9198:Fgl2'

698032

Institutional Source

Beutler Lab

Gene Symbol

Fgl2

Ensembl Gene

ENSMUSG00000039899

Gene Name

fibrinogen-like protein 2

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.295) question?

Stock #

R9198 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

21577671-21583384 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 21577920 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 69 (Q69P)

Ref Sequence

ENSEMBL: ENSMUSP00000046131 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030552] [ENSMUST00000035799] [ENSMUST00000115245]

AlphaFold

P12804

Predicted Effect

probably benign
Transcript: ENSMUST00000030552

SMART Domains

Protein: ENSMUSP00000030552
Gene: ENSMUSG00000064280

Domain	Start	End	E-Value	Type
coiled coil region	1	33	N/A	INTRINSIC
low complexity region	120	130	N/A	INTRINSIC
coiled coil region	194	320	N/A	INTRINSIC
low complexity region	333	342	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000035799
AA Change: Q69P

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000046131
Gene: ENSMUSG00000039899
AA Change: Q69P

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	54	70	N/A	INTRINSIC
coiled coil region	71	158	N/A	INTRINSIC
FBG	201	428	1.6e-131	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115245

SMART Domains

Protein: ENSMUSP00000110900
Gene: ENSMUSG00000064280

Domain	Start	End	E-Value	Type
coiled coil region	1	33	N/A	INTRINSIC
low complexity region	120	130	N/A	INTRINSIC
coiled coil region	194	320	N/A	INTRINSIC
low complexity region	333	342	N/A	INTRINSIC
coiled coil region	438	477	N/A	INTRINSIC
coiled coil region	549	595	N/A	INTRINSIC
coiled coil region	617	663	N/A	INTRINSIC
coiled coil region	690	720	N/A	INTRINSIC
coiled coil region	770	793	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.5%

Validation Efficiency

97% (61/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a secreted protein that is similar to the beta- and gamma-chains of fibrinogen. The carboxyl-terminus of the encoded protein consists of the fibrinogen-related domains (FRED). The encoded protein forms a tetrameric complex which is stabilized by interchain disulfide bonds. This protein may play a role in physiologic functions at mucosal sites. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice for one allele have unaltered type 1 immunity responses. Homozygous null mice for another allele show partial embryonic lethality, hemorrhage at implantation sites, decreased susceptibility to hepatitis virus infection and prolongedsurvival of heart grafts. [provided by MGI curators]

Allele List at MGI

All alleles(2) : Targeted, knock-out(1) Targeted, other(1)

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	A	G	5: 8,167,583 (GRCm39)		probably null	Het
Adamts9	A	T	6: 92,837,170 (GRCm39)	S1164T	probably benign	Het
Bcat1	A	T	6: 144,985,222 (GRCm39)	I140N	probably damaging	Het
Bod1l	T	C	5: 41,957,129 (GRCm39)	T2832A	probably benign	Het
Brca2	A	T	5: 150,459,977 (GRCm39)	E417D	possibly damaging	Het
Ccdc88b	T	C	19: 6,831,268 (GRCm39)	D558G	possibly damaging	Het
Ccdc88b	T	C	19: 6,833,213 (GRCm39)	E278G	probably damaging	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Cenpf	G	T	1: 189,388,987 (GRCm39)	T1615K	probably damaging	Het
Cep250	T	C	2: 155,830,354 (GRCm39)		probably null	Het
Clec4d	T	C	6: 123,251,757 (GRCm39)	F213S	probably damaging	Het
Clip4	G	A	17: 72,117,884 (GRCm39)	G310R	probably damaging	Het
Csmd1	G	A	8: 15,962,430 (GRCm39)	R3255W	probably damaging	Het
Ctsm	T	C	13: 61,687,612 (GRCm39)	D82G	probably damaging	Het
Cyp26a1	A	G	19: 37,686,790 (GRCm39)	T81A	probably damaging	Het
Dld	A	G	12: 31,390,885 (GRCm39)	V187A	probably benign	Het
Dmrt2	T	A	19: 25,655,477 (GRCm39)	Y359N	probably benign	Het
Dnah9	T	C	11: 65,846,570 (GRCm39)	N2914S	probably benign	Het
Dpyd	A	T	3: 118,553,303 (GRCm39)		probably null	Het
Gadd45gip1	A	T	8: 85,560,780 (GRCm39)	I132F	probably damaging	Het
Gm15446	T	C	5: 110,090,743 (GRCm39)	C332R	probably damaging	Het
Gm15737	A	T	6: 92,856,640 (GRCm39)	E23V	unknown	Het
Gm5111	A	G	6: 48,567,037 (GRCm39)	H84R	unknown	Het
Golga3	G	A	5: 110,355,619 (GRCm39)	S991N	probably benign	Het
H2-M10.3	A	G	17: 36,678,919 (GRCm39)	Y50H	probably damaging	Het
Hivep2	C	T	10: 14,005,621 (GRCm39)	H740Y	probably benign	Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Ints7	T	A	1: 191,351,872 (GRCm39)	S860R	probably benign	Het
Lipi	T	A	16: 75,362,461 (GRCm39)	T217S	possibly damaging	Het
Lrrc2	G	T	9: 110,791,722 (GRCm39)	C158F	probably benign	Het
Lrrc30	T	C	17: 67,938,854 (GRCm39)	D242G	probably benign	Het
Map1a	A	T	2: 121,133,854 (GRCm39)	M1557L	probably benign	Het
Matn2	A	G	15: 34,423,924 (GRCm39)	E594G	probably damaging	Het
Mfsd12	T	C	10: 81,198,544 (GRCm39)	L345P	probably damaging	Het
Mmp24	A	G	2: 155,640,041 (GRCm39)	R124G	probably benign	Het
Ngef	T	A	1: 87,406,797 (GRCm39)	H240L	unknown	Het
Nmur1	T	G	1: 86,315,256 (GRCm39)	D203A	probably benign	Het
Nt5c3	T	C	6: 56,859,955 (GRCm39)	Q328R	probably benign	Het
Ogfr	T	C	2: 180,232,850 (GRCm39)		probably null	Het
Or4k1	A	T	14: 50,377,990 (GRCm39)	Y35*	probably null	Het
Or52ac1	T	A	7: 104,245,635 (GRCm39)	Y251F	probably damaging	Het
Or5h19	A	G	16: 58,856,263 (GRCm39)	V279A	probably benign	Het
Osbpl10	G	A	9: 115,061,211 (GRCm39)	W588*	probably null	Het
Pask	A	T	1: 93,265,205 (GRCm39)	S17T	possibly damaging	Het
Pfkfb3	C	T	2: 11,491,084 (GRCm39)	R170K	probably damaging	Het
Plec	A	G	15: 76,069,937 (GRCm39)	C960R	unknown	Het
Pramel11	T	A	4: 143,623,646 (GRCm39)	N176I	probably benign	Het
R3hdm2	T	G	10: 127,293,521 (GRCm39)	S142A	probably damaging	Het
Rfx7	T	C	9: 72,524,163 (GRCm39)	L451P	probably damaging	Het
Rimbp2	T	A	5: 128,883,552 (GRCm39)	E76V	probably damaging	Het
Rock2	A	G	12: 17,015,557 (GRCm39)	N818S	probably benign	Het
Ryk	A	T	9: 102,758,854 (GRCm39)	I248F	possibly damaging	Het
Setd2	A	G	9: 110,378,168 (GRCm39)	Q661R	possibly damaging	Het
Siae	T	C	9: 37,539,105 (GRCm39)	V172A	probably benign	Het
Slc35f4	A	G	14: 49,556,377 (GRCm39)	S9P	unknown	Het
Smg1	T	C	7: 117,795,179 (GRCm39)	E456G	unknown	Het
Srgap3	C	T	6: 112,743,865 (GRCm39)	A458T	probably damaging	Het
Tgfbrap1	T	A	1: 43,093,799 (GRCm39)	R564S	probably damaging	Het
Usp15	A	G	10: 123,004,143 (GRCm39)	Y204H	probably damaging	Het
Usp35	A	G	7: 96,962,276 (GRCm39)	Y527H	probably damaging	Het
Usp8	T	A	2: 126,600,524 (GRCm39)	*1092K	probably null	Het
Vmn2r73	A	T	7: 85,518,987 (GRCm39)	M545K	probably benign	Het
Ylpm1	A	T	12: 85,080,689 (GRCm39)		probably null	Het
Zscan22	G	T	7: 12,641,130 (GRCm39)	R458L	probably damaging	Het

Other mutations in Fgl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01622:Fgl2	APN	5	21,578,175 (GRCm39)	missense	possibly damaging	0.57
IGL01623:Fgl2	APN	5	21,578,175 (GRCm39)	missense	possibly damaging	0.57
IGL02056:Fgl2	APN	5	21,580,543 (GRCm39)	missense	probably damaging	0.99
IGL03128:Fgl2	APN	5	21,578,291 (GRCm39)	missense	probably benign
A4554:Fgl2	UTSW	5	21,577,776 (GRCm39)	missense	probably benign	0.01
R0049:Fgl2	UTSW	5	21,580,661 (GRCm39)	missense	possibly damaging	0.95
R0049:Fgl2	UTSW	5	21,580,661 (GRCm39)	missense	possibly damaging	0.95
R0052:Fgl2	UTSW	5	21,580,347 (GRCm39)	missense	probably damaging	1.00
R0052:Fgl2	UTSW	5	21,580,347 (GRCm39)	missense	probably damaging	1.00
R0149:Fgl2	UTSW	5	21,580,783 (GRCm39)	missense	probably damaging	1.00
R0316:Fgl2	UTSW	5	21,580,521 (GRCm39)	missense	possibly damaging	0.82
R1336:Fgl2	UTSW	5	21,578,181 (GRCm39)	missense	possibly damaging	0.52
R1703:Fgl2	UTSW	5	21,577,730 (GRCm39)	missense	possibly damaging	0.89
R1893:Fgl2	UTSW	5	21,580,669 (GRCm39)	missense	probably benign	0.01
R2371:Fgl2	UTSW	5	21,580,816 (GRCm39)	missense	probably damaging	1.00
R4803:Fgl2	UTSW	5	21,580,918 (GRCm39)	missense	probably benign	0.00
R5250:Fgl2	UTSW	5	21,580,521 (GRCm39)	missense	possibly damaging	0.82
R5422:Fgl2	UTSW	5	21,580,808 (GRCm39)	missense	probably damaging	1.00
R6759:Fgl2	UTSW	5	21,578,256 (GRCm39)	missense	probably benign	0.00
R7808:Fgl2	UTSW	5	21,578,229 (GRCm39)	missense	possibly damaging	0.53
R7812:Fgl2	UTSW	5	21,577,896 (GRCm39)	missense	probably benign	0.01
R7838:Fgl2	UTSW	5	21,577,752 (GRCm39)	missense	probably benign	0.01
R8177:Fgl2	UTSW	5	21,578,307 (GRCm39)	critical splice donor site	probably null
R8725:Fgl2	UTSW	5	21,580,677 (GRCm39)	nonsense	probably null
R8727:Fgl2	UTSW	5	21,580,677 (GRCm39)	nonsense	probably null
R9114:Fgl2	UTSW	5	21,580,363 (GRCm39)	missense	probably damaging	1.00
R9513:Fgl2	UTSW	5	21,580,790 (GRCm39)	nonsense	probably null
R9606:Fgl2	UTSW	5	21,577,991 (GRCm39)	missense	possibly damaging	0.87
X0017:Fgl2	UTSW	5	21,580,650 (GRCm39)	missense	probably damaging	0.98
X0026:Fgl2	UTSW	5	21,580,711 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCAAGGATGAGGCTTCCTG -3'
(R):5'- ACAGCTTGTTCACCTGACTC -3'

Sequencing Primer
(F):5'- GCTGAGTTCTGCCGTCC -3'
(R):5'- AGCTTGTTCACCTGACTCTCCAG -3'

Posted On

2022-02-07