Mutagenetix > Incidental Mutation

Incidental Mutation 'R4019:Gramd2b'

312711

Institutional Source

Beutler Lab

Gene Symbol

Gramd2b

Ensembl Gene

ENSMUSG00000001700

Gene Name

GRAM domain containing 2B

Synonyms

9130427A09Rik, Gramd3, 9030613F08Rik

MMRRC Submission

040953-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4019 (G1)

Quality Score

225

Status

Not validated

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

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acy1	T	C	9: 106,313,978 (GRCm39)	T61A	possibly damaging	Het
Ap4e1	C	T	2: 126,903,846 (GRCm39)	S916F	probably benign	Het
Brpf1	G	A	6: 113,287,243 (GRCm39)	R157Q	probably damaging	Het
Canx	A	T	11: 50,190,072 (GRCm39)	S429T	probably damaging	Het
Casz1	C	T	4: 149,017,335 (GRCm39)	P208L	probably benign	Het
Ctnnd1	C	T	2: 84,450,302 (GRCm39)	R306H	probably damaging	Het
Dip2c	T	C	13: 9,664,401 (GRCm39)	V909A	probably damaging	Het
Epg5	C	A	18: 78,073,665 (GRCm39)	Q2511K	probably damaging	Het
Ghitm	G	A	14: 36,852,651 (GRCm39)	A143V	probably damaging	Het
Ifitm3	T	C	7: 140,589,772 (GRCm39)	T94A	possibly damaging	Het
Ift81	G	A	5: 122,731,192 (GRCm39)	T321M	probably benign	Het
Ikbkb	C	T	8: 23,161,728 (GRCm39)	V387I	probably benign	Het
Lct	T	C	1: 128,231,963 (GRCm39)	M629V	probably damaging	Het
Lpar5	A	G	6: 125,058,638 (GRCm39)	N120D	probably damaging	Het
Lrrc37	A	G	11: 103,506,119 (GRCm39)	S1950P	probably benign	Het
Lrrtm2	T	C	18: 35,345,923 (GRCm39)	I460V	possibly damaging	Het
Naip5	T	C	13: 100,359,883 (GRCm39)	E451G	probably benign	Het
Naip5	T	C	13: 100,359,902 (GRCm39)	I445V	probably benign	Het
Nbas	A	G	12: 13,532,520 (GRCm39)	R1743G	probably damaging	Het
Nherf4	A	T	9: 44,162,117 (GRCm39)		probably null	Het
Notch1	T	C	2: 26,371,154 (GRCm39)	T311A	probably benign	Het
Oplah	A	G	15: 76,181,476 (GRCm39)	Y1155H	probably damaging	Het
Or4c15	A	G	2: 88,760,080 (GRCm39)	I193T	probably benign	Het
Or52k2	T	C	7: 102,253,849 (GRCm39)	F96S	probably damaging	Het
Pcnx1	C	T	12: 81,965,018 (GRCm39)	T395I	probably damaging	Het
Pdgfb	A	C	15: 79,885,923 (GRCm39)	V108G	probably damaging	Het
Prpf40b	T	C	15: 99,214,357 (GRCm39)	S846P	probably benign	Het
Ptprc	T	A	1: 138,006,254 (GRCm39)	H752L	probably damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Scn3a	A	G	2: 65,356,295 (GRCm39)		probably benign	Het
Sco1	T	G	11: 66,954,846 (GRCm39)	S284A	probably benign	Het
Slc25a10	T	A	11: 120,388,265 (GRCm39)	M227K	probably damaging	Het
Sox8	A	G	17: 25,789,271 (GRCm39)	Y76H	probably damaging	Het
Spdya	A	C	17: 71,863,309 (GRCm39)	K19N	possibly damaging	Het
Syngap1	C	T	17: 27,171,315 (GRCm39)		probably benign	Het
Sytl3	T	C	17: 7,003,892 (GRCm39)	S326P	probably damaging	Het
Tbl3	A	G	17: 24,923,695 (GRCm39)	V239A	probably damaging	Het
Tenm2	T	C	11: 35,937,901 (GRCm39)	I1592V	probably benign	Het
Vmn2r109	T	A	17: 20,774,074 (GRCm39)	D427V	probably benign	Het
Vmn2r115	A	G	17: 23,579,017 (GRCm39)	K830R	probably damaging	Het
Vmn2r45	A	T	7: 8,474,580 (GRCm39)	L816*	probably null	Het
Zfp335	C	T	2: 164,743,380 (GRCm39)	R536H	probably damaging	Het
Zfp777	T	A	6: 48,019,046 (GRCm39)	Q296L	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
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

Predicted Primers

PCR Primer
(F):5'- GTCACTAACAATGGAACTTTGGAGG -3'
(R):5'- AAGCCCACATCATCTGGAGG -3'

Sequencing Primer
(F):5'- GGAGGAGGGTATATTTAGTGACC -3'
(R):5'- CCACATCATCTGGAGGCATTTAGAG -3'

Posted On

2015-04-30