Mutagenetix > Incidental Mutation

Incidental Mutation 'R2902:Gldn'

261510

Institutional Source

Beutler Lab

Gene Symbol

Gldn

Ensembl Gene

ENSMUSG00000046167

Gene Name

gliomedin

Synonyms

CRG-L2, Crlg2

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.251) question?

Stock #

R2902 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

54193770-54249061 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54243098 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 360 (L360P)

Ref Sequence

ENSEMBL: ENSMUSP00000056080 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056740]

AlphaFold

Q8BMF8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056740
AA Change: L360P

PolyPhen 2 Score 0.839 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000056080
Gene: ENSMUSG00000046167
AA Change: L360P

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Collagen	136	195	8.3e-11	PFAM
low complexity region	199	211	N/A	INTRINSIC
low complexity region	213	221	N/A	INTRINSIC
low complexity region	236	261	N/A	INTRINSIC
OLF	299	543	1.97e-35	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele fail to form heminodes without overt neurological abnormalities or alteration in nerve conduction. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apobec2	T	C	17: 48,730,409 (GRCm39)	T86A	probably benign	Het
C1qtnf1	A	G	11: 118,338,930 (GRCm39)		probably null	Het
Cacng3	A	G	7: 122,353,750 (GRCm39)	K78R	possibly damaging	Het
Cep68	A	G	11: 20,190,187 (GRCm39)	L275P	probably damaging	Het
Chrm4	A	G	2: 91,758,302 (GRCm39)	K237E	probably benign	Het
Clvs1	A	G	4: 9,281,972 (GRCm39)	K139E	probably damaging	Het
Col25a1	A	T	3: 130,340,040 (GRCm39)	E351V	probably damaging	Het
Cyp4f18	A	T	8: 72,756,255 (GRCm39)	I107N	probably damaging	Het
Dagla	A	G	19: 10,225,467 (GRCm39)	L899P	probably damaging	Het
Dnah3	T	C	7: 119,550,722 (GRCm39)	K3199R	possibly damaging	Het
Ecpas	G	A	4: 58,809,691 (GRCm39)	T1592M	probably benign	Het
Emc10	G	A	7: 44,142,616 (GRCm39)	R109W	probably damaging	Het
Fam186a	G	T	15: 99,843,049 (GRCm39)	T1065K	possibly damaging	Het
Ferd3l	T	G	12: 33,978,952 (GRCm39)	M155R	probably damaging	Het
Fgd4	A	G	16: 16,243,729 (GRCm39)	Y602H	probably damaging	Het
Gm9920	C	A	15: 54,975,867 (GRCm39)		probably benign	Het
Inhbc	T	C	10: 127,193,621 (GRCm39)	T132A	probably benign	Het
Krt23	T	C	11: 99,374,797 (GRCm39)	D260G	probably damaging	Het
Lrch3	G	A	16: 32,770,766 (GRCm39)	A123T	probably damaging	Het
Mark2	A	T	19: 7,260,813 (GRCm39)	S408T	probably benign	Het
Nme8	A	T	13: 19,859,834 (GRCm39)	V23E	probably benign	Het
Nod2	A	T	8: 89,402,091 (GRCm39)	I912F	probably damaging	Het
Nxpe4	A	G	9: 48,305,446 (GRCm39)	I279V	probably benign	Het
Oas3	A	G	5: 120,896,982 (GRCm39)	F880L	probably damaging	Het
Or5ak23	C	T	2: 85,244,396 (GRCm39)	V276M	possibly damaging	Het
Or6c6c	A	G	10: 129,541,320 (GRCm39)	H191R	probably benign	Het
Or8c11	T	A	9: 38,289,337 (GRCm39)	N53K	possibly damaging	Het
Pcnt	C	T	10: 76,211,064 (GRCm39)	R2371H	probably damaging	Het
Prex2	A	T	1: 11,278,838 (GRCm39)	N1389I	possibly damaging	Het
Prf1	A	T	10: 61,136,098 (GRCm39)	N125Y	probably damaging	Het
Prr12	C	T	7: 44,697,036 (GRCm39)	G960R	unknown	Het
Rap1b	A	G	10: 117,660,507 (GRCm39)	S17P	probably damaging	Het
Rhot2	G	T	17: 26,062,950 (GRCm39)	Q63K	probably damaging	Het
Rnpepl1	C	T	1: 92,844,102 (GRCm39)	L278F	probably damaging	Het
Slco1a6	A	G	6: 142,042,046 (GRCm39)	L510P	probably damaging	Het
Ssc4d	G	A	5: 135,993,517 (GRCm39)	P113L	possibly damaging	Het
Sv2a	A	T	3: 96,101,072 (GRCm39)	N690I	possibly damaging	Het
Tbc1d24	T	C	17: 24,426,220 (GRCm39)	Y452C	probably benign	Het
Tmem132d	G	T	5: 127,860,832 (GRCm39)	H1096Q	probably benign	Het
Tmem82	C	A	4: 141,343,775 (GRCm39)	G165V	probably benign	Het
Tpo	T	A	12: 30,169,448 (GRCm39)	T96S	possibly damaging	Het
Triobp	A	G	15: 78,857,618 (GRCm39)	E1073G	possibly damaging	Het
Tspoap1	C	T	11: 87,668,801 (GRCm39)	P1358L	probably benign	Het
Usp47	A	G	7: 111,692,658 (GRCm39)	Y1020C	probably damaging	Het
Washc4	C	A	10: 83,390,627 (GRCm39)	Y153*	probably null	Het

Other mutations in Gldn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00585:Gldn	APN	9	54,245,748 (GRCm39)	missense	probably damaging	0.99
IGL01778:Gldn	APN	9	54,241,776 (GRCm39)	splice site	probably null
IGL02425:Gldn	APN	9	54,246,005 (GRCm39)	missense	probably damaging	1.00
R2284:Gldn	UTSW	9	54,193,849 (GRCm39)	nonsense	probably null
R3055:Gldn	UTSW	9	54,245,807 (GRCm39)	missense	probably damaging	0.96
R3683:Gldn	UTSW	9	54,245,624 (GRCm39)	missense	possibly damaging	0.58
R3684:Gldn	UTSW	9	54,245,624 (GRCm39)	missense	possibly damaging	0.58
R3732:Gldn	UTSW	9	54,245,946 (GRCm39)	missense	possibly damaging	0.76
R3732:Gldn	UTSW	9	54,245,946 (GRCm39)	missense	possibly damaging	0.76
R3733:Gldn	UTSW	9	54,245,946 (GRCm39)	missense	possibly damaging	0.76
R3734:Gldn	UTSW	9	54,245,946 (GRCm39)	missense	possibly damaging	0.76
R4668:Gldn	UTSW	9	54,239,302 (GRCm39)	nonsense	probably null
R5228:Gldn	UTSW	9	54,242,003 (GRCm39)	missense	probably damaging	0.98
R5574:Gldn	UTSW	9	54,220,206 (GRCm39)	missense	probably damaging	1.00
R5773:Gldn	UTSW	9	54,241,775 (GRCm39)	critical splice donor site	probably null
R5926:Gldn	UTSW	9	54,245,722 (GRCm39)	missense	possibly damaging	0.68
R5943:Gldn	UTSW	9	54,245,721 (GRCm39)	missense	possibly damaging	0.81
R6331:Gldn	UTSW	9	54,194,162 (GRCm39)	missense	probably benign	0.32
R6671:Gldn	UTSW	9	54,245,691 (GRCm39)	missense	probably damaging	1.00
R6821:Gldn	UTSW	9	54,246,054 (GRCm39)	missense	probably benign	0.01
R6897:Gldn	UTSW	9	54,242,158 (GRCm39)	splice site	probably null
R7579:Gldn	UTSW	9	54,245,648 (GRCm39)	missense	probably benign	0.21
R7604:Gldn	UTSW	9	54,245,877 (GRCm39)	missense	probably benign
R7705:Gldn	UTSW	9	54,245,976 (GRCm39)	missense	probably benign	0.00
R9036:Gldn	UTSW	9	54,245,747 (GRCm39)	missense	probably benign	0.00
R9672:Gldn	UTSW	9	54,245,780 (GRCm39)	missense	probably damaging	0.97
Z1177:Gldn	UTSW	9	54,193,944 (GRCm39)	missense	probably benign	0.37

Predicted Primers

PCR Primer
(F):5'- GCTGTAGCTGTCCAAACACC -3'
(R):5'- GAACACATCTAGACAATGGCAG -3'

Sequencing Primer
(F):5'- CACCAAATATTTGTTCCTGGGGCAG -3'
(R):5'- TCTAGACAATGGCAGAAGACAAC -3'

Posted On

2015-01-23