Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02203:Gramd2b'

284418

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gramd2b

Ensembl Gene

ENSMUSG00000001700

Gene Name

GRAM domain containing 2B

Synonyms

9130427A09Rik, Gramd3, 9030613F08Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02203

Quality Score

Status

Chromosome

Chromosomal Location

56533412-56636864 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 56612026 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000068453 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070166]

AlphaFold

Q6PEM6

Predicted Effect

probably null
Transcript: ENSMUST00000070166

SMART Domains

Protein: ENSMUSP00000068453
Gene: ENSMUSG00000001700

Domain	Start	End	E-Value	Type
low complexity region	69	82	N/A	INTRINSIC
low complexity region	86	104	N/A	INTRINSIC
GRAM	110	177	3.06e-23	SMART
transmembrane domain	342	364	N/A	INTRINSIC
coiled coil region	404	430	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	C	3: 121,973,457 (GRCm39)	D1095A	probably benign	Het
Acmsd	T	C	1: 127,666,342 (GRCm39)		probably benign	Het
Ap5m1	G	A	14: 49,317,715 (GRCm39)	G324D	probably damaging	Het
Api5	T	G	2: 94,255,419 (GRCm39)	N252T	probably benign	Het
Arhgap45	T	A	10: 79,863,387 (GRCm39)	C743*	probably null	Het
Clpb	A	G	7: 101,428,544 (GRCm39)	T435A	probably damaging	Het
Csmd3	C	T	15: 47,713,073 (GRCm39)		probably null	Het
Cyp3a11	T	G	5: 145,805,976 (GRCm39)	R130S	probably damaging	Het
Dennd4c	A	G	4: 86,721,173 (GRCm39)	T612A	probably benign	Het
Dipk1a	A	G	5: 108,059,647 (GRCm39)	L57S	probably benign	Het
Eng	A	G	2: 32,561,498 (GRCm39)	I170V	probably benign	Het
Gfra2	T	A	14: 71,204,524 (GRCm39)	M74K	possibly damaging	Het
Gpr137c	A	G	14: 45,514,944 (GRCm39)	T268A	possibly damaging	Het
Il13ra2	A	G	X: 146,166,669 (GRCm39)	L367P	possibly damaging	Het
Insr	T	C	8: 3,205,817 (GRCm39)	H1324R	probably benign	Het
Lgi3	A	G	14: 70,771,958 (GRCm39)	E215G	possibly damaging	Het
Mst1r	A	G	9: 107,790,348 (GRCm39)	T654A	possibly damaging	Het
Mst1r	A	G	9: 107,785,068 (GRCm39)	Y242C	probably damaging	Het
Myo16	A	T	8: 10,620,132 (GRCm39)	Q1561L	possibly damaging	Het
Obscn	A	C	11: 58,973,134 (GRCm39)	M2222R	probably damaging	Het
Or10ak13	A	T	4: 118,639,626 (GRCm39)	V52D	possibly damaging	Het
Or13p10	A	T	4: 118,523,379 (GRCm39)	I222F	probably benign	Het
Or2ag1	A	G	7: 106,313,837 (GRCm39)	I17T	probably benign	Het
Or5ap2	T	G	2: 85,680,432 (GRCm39)	F212C	probably damaging	Het
Or8b50	A	G	9: 38,518,719 (GRCm39)		probably benign	Het
Plch1	G	A	3: 63,606,160 (GRCm39)	P1239L	possibly damaging	Het
Ptprm	A	T	17: 67,260,118 (GRCm39)	I499K	probably damaging	Het
Rabep2	G	T	7: 126,039,566 (GRCm39)	R331L	possibly damaging	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Sema7a	A	G	9: 57,864,889 (GRCm39)	T397A	probably benign	Het
Sftpc	A	C	14: 70,759,309 (GRCm39)	M124R	probably damaging	Het
Slc25a38	A	G	9: 119,949,878 (GRCm39)	Y198C	probably damaging	Het
Sppl2a	A	T	2: 126,746,861 (GRCm39)	M489K	possibly damaging	Het
Swt1	T	A	1: 151,246,377 (GRCm39)	K849N	probably benign	Het
Ttc3	T	A	16: 94,219,457 (GRCm39)		probably benign	Het
Vmn2r63	A	G	7: 42,553,432 (GRCm39)	V608A	probably benign	Het
Vwf	A	G	6: 125,619,369 (GRCm39)	Y1349C	probably damaging	Het
Ybx3	A	G	6: 131,345,371 (GRCm39)	V265A	probably benign	Het
Zfp318	C	T	17: 46,707,736 (GRCm39)	R265*	probably null	Het

Other mutations in Gramd2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01582:Gramd2b	APN	18	56,618,488 (GRCm39)	missense	probably damaging	0.99
IGL01903:Gramd2b	APN	18	56,607,101 (GRCm39)	missense	probably damaging	0.99
IGL03210:Gramd2b	APN	18	56,607,170 (GRCm39)	missense	probably benign
PIT4283001:Gramd2b	UTSW	18	56,622,735 (GRCm39)	missense	probably damaging	1.00
R0432:Gramd2b	UTSW	18	56,607,141 (GRCm39)	missense	probably benign	0.00
R1623:Gramd2b	UTSW	18	56,565,423 (GRCm39)	missense	probably benign	0.00
R4019:Gramd2b	UTSW	18	56,612,026 (GRCm39)	critical splice donor site	probably null
R4125:Gramd2b	UTSW	18	56,618,296 (GRCm39)	missense	probably damaging	1.00
R4750:Gramd2b	UTSW	18	56,565,372 (GRCm39)	missense	probably benign	0.44
R4927:Gramd2b	UTSW	18	56,618,523 (GRCm39)	missense	probably damaging	0.96
R5495:Gramd2b	UTSW	18	56,615,694 (GRCm39)	missense	probably damaging	1.00
R5866:Gramd2b	UTSW	18	56,607,108 (GRCm39)	missense	possibly damaging	0.93
R6443:Gramd2b	UTSW	18	56,618,457 (GRCm39)	missense	probably benign	0.00
R6672:Gramd2b	UTSW	18	56,565,408 (GRCm39)	missense	possibly damaging	0.49
R7030:Gramd2b	UTSW	18	56,618,321 (GRCm39)	missense	probably damaging	1.00
R7099:Gramd2b	UTSW	18	56,625,017 (GRCm39)	missense	probably benign	0.01
R7162:Gramd2b	UTSW	18	56,618,529 (GRCm39)	critical splice donor site	probably null
R7854:Gramd2b	UTSW	18	56,611,926 (GRCm39)	missense	probably damaging	1.00
R7975:Gramd2b	UTSW	18	56,618,451 (GRCm39)	missense	probably benign	0.00
R9758:Gramd2b	UTSW	18	56,611,972 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16