Mutagenetix > Incidental Mutation

Incidental Mutation 'R6443:Gramd2b'

519112

Institutional Source

Beutler Lab

Gene Symbol

Gramd2b

Ensembl Gene

ENSMUSG00000001700

Gene Name

GRAM domain containing 2B

Synonyms

9130427A09Rik, Gramd3, 9030613F08Rik

MMRRC Submission

044581-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6443 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56533412-56636864 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 56618457 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 222 (V222I)

Ref Sequence

ENSEMBL: ENSMUSP00000068453 (fasta)

Gene Model

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

AlphaFold

Q6PEM6

Predicted Effect

probably benign
Transcript: ENSMUST00000070166
AA Change: V222I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000068453
Gene: ENSMUSG00000001700
AA Change: V222I

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

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 91.9%

Validation Efficiency

97% (37/38)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdhppt	A	G	9: 4,309,357 (GRCm39)	L27P	probably damaging	Het
Actr6	T	C	10: 89,550,733 (GRCm39)	N354D	probably damaging	Het
Apbb1	T	A	7: 105,222,970 (GRCm39)	N214Y	probably damaging	Het
Bcar1	A	T	8: 112,441,970 (GRCm39)	V290E	probably damaging	Het
Ces1f	T	A	8: 94,001,993 (GRCm39)	Q45L	probably benign	Het
Ctss	A	C	3: 95,454,114 (GRCm39)	K221T	probably benign	Het
Dclre1b	T	A	3: 103,710,504 (GRCm39)	N469I	possibly damaging	Het
Dnah12	C	A	14: 26,600,008 (GRCm39)	Q3683K	probably benign	Het
Dnah8	A	G	17: 30,990,859 (GRCm39)	I3301V	probably benign	Het
Ephb4	G	A	5: 137,358,711 (GRCm39)	G298E	probably damaging	Het
Eya3	T	C	4: 132,439,238 (GRCm39)	F455L	probably damaging	Het
Fkbp5	G	T	17: 28,648,253 (GRCm39)	A112D	probably damaging	Het
Glud1	T	C	14: 34,061,884 (GRCm39)	M468T	probably benign	Het
Gm5114	C	A	7: 39,057,141 (GRCm39)	R826L	possibly damaging	Het
Kif1b	T	C	4: 149,277,053 (GRCm39)	M1337V	probably benign	Het
Lpin2	T	C	17: 71,548,663 (GRCm39)	S576P	probably benign	Het
Lrrc1	A	G	9: 77,341,314 (GRCm39)	F415L	probably damaging	Het
Mtmr3	A	T	11: 4,437,358 (GRCm39)	I1032K	probably damaging	Het
Nr5a1	G	A	2: 38,600,442 (GRCm39)	T75M	probably damaging	Het
Nwd1	G	A	8: 73,388,994 (GRCm39)	V141I	possibly damaging	Het
Or1e1b-ps1	A	T	11: 73,845,918 (GRCm39)	Q134L	probably benign	Het
Or5ar1	T	G	2: 85,671,979 (GRCm39)	D52A	probably damaging	Het
Or6c214	C	A	10: 129,591,277 (GRCm39)	G14V	probably damaging	Het
Pla1a	T	C	16: 38,229,949 (GRCm39)		probably null	Het
Ppp1r36	A	G	12: 76,464,413 (GRCm39)	S4G	probably benign	Het
Rsf1	G	GACGGCGGCT	7: 97,229,116 (GRCm39)		probably benign	Homo
Ryr1	A	T	7: 28,776,503 (GRCm39)	M2204K	probably damaging	Het
Ryr3	T	C	2: 112,506,278 (GRCm39)	N3428S	possibly damaging	Het
Slc6a4	A	G	11: 76,914,027 (GRCm39)	K526E	probably benign	Het
Slc9a8	G	A	2: 167,276,741 (GRCm39)	R78H	probably benign	Het
Sptbn1	T	C	11: 30,089,429 (GRCm39)	D611G	possibly damaging	Het
Sstr2	G	A	11: 113,516,080 (GRCm39)		probably null	Het
Tcf7	G	T	11: 52,144,765 (GRCm39)	T286N	probably benign	Het
Txndc5	A	G	13: 38,712,179 (GRCm39)	M69T	possibly damaging	Het
Usp48	T	A	4: 137,341,074 (GRCm39)	V358E	probably damaging	Het
Vmn2r1	T	A	3: 64,012,374 (GRCm39)	I745K	possibly damaging	Het
Zfp354b	A	G	11: 50,813,581 (GRCm39)	I448T	possibly damaging	Het
Zfp523	A	T	17: 28,420,381 (GRCm39)	T189S	probably damaging	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
IGL02203:Gramd2b	APN	18	56,612,026 (GRCm39)	critical splice donor site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- ATGACTGGTATTTCTTGACCTCTTG -3'
(R):5'- ATGGCTCCATCCTTGGCTTG -3'

Sequencing Primer
(F):5'- GGCCCCATCTTATTTTCCAGTAC -3'
(R):5'- CCGTGTTAGTGAACCTGACCTAAG -3'

Posted On

2018-05-24