Mutagenetix > Incidental Mutation

Incidental Mutation 'R5495:Gramd2b'

501128

Institutional Source

Beutler Lab

Gene Symbol

Gramd2b

Ensembl Gene

ENSMUSG00000001700

Gene Name

GRAM domain containing 2B

Synonyms

9130427A09Rik, Gramd3, 9030613F08Rik

MMRRC Submission

043056-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5495 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56533412-56636864 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56615694 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 163 (I163T)

Ref Sequence

ENSEMBL: ENSMUSP00000068453 (fasta)

Gene Model

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

AlphaFold

Q6PEM6

Predicted Effect

probably damaging
Transcript: ENSMUST00000070166
AA Change: I163T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000068453
Gene: ENSMUSG00000001700
AA Change: I163T

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: 98.4%
3x: 97.3%
10x: 95.3%
20x: 91.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt2	T	C	7: 27,335,594 (GRCm39)		probably null	Het
Arhgap29	T	G	3: 121,808,578 (GRCm39)	M844R	probably damaging	Het
Atp1a1	T	G	3: 101,498,741 (GRCm39)	D184A	probably benign	Het
Bcl11a	T	A	11: 24,115,042 (GRCm39)	V795E	possibly damaging	Het
Casp12	T	A	9: 5,353,797 (GRCm39)	I277N	possibly damaging	Het
Ccdc59	A	G	10: 105,681,239 (GRCm39)	K164E	probably damaging	Het
D630003M21Rik	C	T	2: 158,062,431 (GRCm39)	G30S	possibly damaging	Het
Dgkd	A	G	1: 87,854,594 (GRCm39)	D632G	probably damaging	Het
Efr3a	A	G	15: 65,687,258 (GRCm39)	K56E	possibly damaging	Het
Egflam	T	A	15: 7,280,722 (GRCm39)	R434S	probably damaging	Het
Fancl	C	G	11: 26,347,801 (GRCm39)	A51G	probably damaging	Het
Fkbp7	T	C	2: 76,493,638 (GRCm39)	Y185C	probably damaging	Het
Galc	A	G	12: 98,197,673 (GRCm39)		probably null	Het
Galnt15	A	G	14: 31,751,774 (GRCm39)	S109G	probably damaging	Het
Impa1	A	G	3: 10,391,230 (GRCm39)	V80A	probably benign	Het
Itga10	T	C	3: 96,554,687 (GRCm39)	M56T	possibly damaging	Het
Larp1b	G	T	3: 40,990,257 (GRCm39)	R135I	probably damaging	Het
Lgals12	C	T	19: 7,581,495 (GRCm39)	A71T	probably damaging	Het
Lmbr1	A	T	5: 29,551,851 (GRCm39)	L78*	probably null	Het
Lrat	C	A	3: 82,804,289 (GRCm39)	M229I	probably benign	Het
Mug2	A	T	6: 122,056,609 (GRCm39)	M1185L	probably damaging	Het
Naprt	T	C	15: 75,765,696 (GRCm39)		probably null	Het
Nfat5	A	G	8: 108,095,079 (GRCm39)	I1107V	probably benign	Het
Nr4a2	T	C	2: 57,002,387 (GRCm39)	Y22C	probably damaging	Het
Ogfod1	C	A	8: 94,790,906 (GRCm39)	Q526K	probably benign	Het
Or2d4	C	A	7: 106,543,699 (GRCm39)	G170*	probably null	Het
Or3a10	G	A	11: 73,935,611 (GRCm39)	T163I	probably damaging	Het
Or4p21	T	C	2: 88,276,401 (GRCm39)	T294A	probably benign	Het
Or8g36	T	C	9: 39,422,441 (GRCm39)	T192A	probably benign	Het
Parp10	T	G	15: 76,127,366 (GRCm39)	I24L	probably benign	Het
Pcdha11	A	G	18: 37,144,079 (GRCm39)	T57A	probably benign	Het
Prdm8	A	G	5: 98,333,165 (GRCm39)	E244G	possibly damaging	Het
Prl6a1	T	C	13: 27,496,654 (GRCm39)	S3P	possibly damaging	Het
Rab11fip3	T	A	17: 26,235,117 (GRCm39)	T18S	probably damaging	Het
Rfc4	T	C	16: 22,941,004 (GRCm39)		probably benign	Het
Rubcnl	G	T	14: 75,279,777 (GRCm39)	V387F	possibly damaging	Het
S100a7l2	A	T	3: 90,997,602 (GRCm39)	L38M	possibly damaging	Het
Serpinb12	T	C	1: 106,884,151 (GRCm39)	L299P	probably damaging	Het
Sptbn5	G	A	2: 119,876,965 (GRCm39)		probably benign	Het
Taar4	A	T	10: 23,837,181 (GRCm39)	I264F	possibly damaging	Het
Tdpoz4	A	T	3: 93,704,806 (GRCm39)	T368S	probably benign	Het
Thsd7b	T	A	1: 129,523,570 (GRCm39)	H124Q	probably damaging	Het
Ugt1a6a	A	T	1: 88,066,746 (GRCm39)	Q184L	probably benign	Het
Vnn1	T	A	10: 23,774,462 (GRCm39)	F168L	probably damaging	Het
Zan	A	G	5: 137,468,670 (GRCm39)	L267P	probably damaging	Het
Zswim8	A	G	14: 20,772,354 (GRCm39)	S1621G	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
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

Predicted Primers

PCR Primer
(F):5'- TCCGGTAGCTGTGGAAATCC -3'
(R):5'- CAACCCATACTTAATGTTGTTTGCC -3'

Sequencing Primer
(F):5'- ATCCCAGTCAGGACAGTTCAGTG -3'
(R):5'- ATACTTAATGTTGTTTGCCCTCTGTG -3'

Posted On

2017-12-01