Mutagenetix > Incidental Mutation

Incidental Mutation 'R0450:Rem2'

39635

Institutional Source

Beutler Lab

Gene Symbol

Rem2

Ensembl Gene

ENSMUSG00000022176

Gene Name

rad and gem related GTP binding protein 2

Synonyms

MMRRC Submission

038650-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R0450 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

54713557-54717888 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 54713754 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022782] [ENSMUST00000164697] [ENSMUST00000164766]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000022782

SMART Domains

Protein: ENSMUSP00000022782
Gene: ENSMUSG00000022175

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
CUB	29	137	5.33e-2	SMART
LDLa	140	177	5.26e-13	SMART
CUB	193	306	2.57e-4	SMART
LDLa	308	356	1.05e-3	SMART
LDLa	357	399	4.89e-2	SMART
LDLa	400	436	1.63e-9	SMART
transmembrane domain	442	464	N/A	INTRINSIC
low complexity region	544	569	N/A	INTRINSIC
low complexity region	614	629	N/A	INTRINSIC
low complexity region	634	655	N/A	INTRINSIC
low complexity region	672	681	N/A	INTRINSIC
low complexity region	685	710	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000164697
AA Change: M9T

SMART Domains

Protein: ENSMUSP00000132998
Gene: ENSMUSG00000022176
AA Change: M9T

Domain	Start	End	E-Value	Type
low complexity region	1	13	N/A	INTRINSIC
low complexity region	56	68	N/A	INTRINSIC
SCOP:d1f6ba_	107	135	5e-5	SMART
PDB:3Q85\|B	114	149	3e-17	PDB

Predicted Effect

unknown
Transcript: ENSMUST00000164766
AA Change: M9T

SMART Domains

Protein: ENSMUSP00000127199
Gene: ENSMUSG00000022176
AA Change: M9T

Domain	Start	End	E-Value	Type
low complexity region	1	13	N/A	INTRINSIC
low complexity region	56	68	N/A	INTRINSIC
low complexity region	90	108	N/A	INTRINSIC
Pfam:Roc	117	234	3e-11	PFAM
Pfam:Ras	117	280	4.8e-31	PFAM
low complexity region	292	303	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000168930

SMART Domains

Protein: ENSMUSP00000131989
Gene: ENSMUSG00000022176

Domain	Start	End	E-Value	Type
low complexity region	22	34	N/A	INTRINSIC
low complexity region	56	74	N/A	INTRINSIC
Pfam:Ras	83	140	2.7e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170337

Meta Mutation Damage Score

0.1052

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 94.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acoxl	G	A	2: 127,722,423 (GRCm39)		probably null	Het
AI606181	A	C	19: 41,582,170 (GRCm39)	K113N	unknown	Het
Ankrd11	T	C	8: 123,618,914 (GRCm39)	D1646G	possibly damaging	Het
Ap2m1	T	A	16: 20,360,990 (GRCm39)	I334N	possibly damaging	Het
Arih2	T	A	9: 108,482,291 (GRCm39)	H490L	possibly damaging	Het
Ccdc168	T	A	1: 44,100,257 (GRCm39)	K280N	possibly damaging	Het
Cdhr1	T	C	14: 36,802,633 (GRCm39)	Y610C	probably damaging	Het
Cdkal1	C	A	13: 29,875,579 (GRCm39)		probably null	Het
Cep76	A	T	18: 67,767,850 (GRCm39)	N227K	probably benign	Het
Clca4b	A	T	3: 144,619,112 (GRCm39)	Y676N	probably damaging	Het
Cog2	T	C	8: 125,255,797 (GRCm39)		probably null	Het
Col6a4	A	T	9: 105,957,746 (GRCm39)	V26D	probably damaging	Het
Dcaf11	T	C	14: 55,806,537 (GRCm39)	V446A	probably damaging	Het
Dync1h1	C	A	12: 110,606,378 (GRCm39)	Q2483K	probably benign	Het
Enpp3	A	T	10: 24,652,679 (GRCm39)	D759E	probably damaging	Het
Etfbkmt	C	T	6: 149,052,082 (GRCm39)	R96W	probably benign	Het
Fam83a	C	A	15: 57,873,322 (GRCm39)	Q384K	probably benign	Het
Glipr1l2	A	G	10: 111,928,477 (GRCm39)	D124G	probably benign	Het
Gucy2e	T	C	11: 69,126,402 (GRCm39)	D326G	probably benign	Het
Hnrnph3	T	A	10: 62,853,994 (GRCm39)	R41S	probably benign	Het
Hnrnph3	T	A	10: 62,855,279 (GRCm39)	D2V	probably damaging	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Itpr2	T	C	6: 146,319,477 (GRCm39)	T188A	possibly damaging	Het
Krt23	T	A	11: 99,377,608 (GRCm39)	I133L	probably damaging	Het
Krt74	T	C	15: 101,671,751 (GRCm39)		noncoding transcript	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
Map1a	A	T	2: 121,136,255 (GRCm39)	H2357L	probably benign	Het
Mbl1	A	G	14: 40,880,706 (GRCm39)	N198S	probably damaging	Het
Mcf2l	A	G	8: 13,047,337 (GRCm39)	D233G	probably damaging	Het
Mdga2	T	C	12: 66,517,700 (GRCm39)	K45E	possibly damaging	Het
Mdn1	A	G	4: 32,738,619 (GRCm39)	N3524S	probably benign	Het
Mospd3	A	G	5: 137,595,294 (GRCm39)	L233P	probably damaging	Het
Msto1	A	G	3: 88,818,848 (GRCm39)	L269P	probably benign	Het
Or4a39	A	T	2: 89,237,135 (GRCm39)	M96K	probably damaging	Het
Or5p5	T	C	7: 107,413,895 (GRCm39)	Y35H	probably damaging	Het
Or5w15	A	G	2: 87,567,825 (GRCm39)	V281A	probably damaging	Het
Or8b12i	T	C	9: 20,082,561 (GRCm39)	Y102C	probably benign	Het
Or8g27	G	A	9: 39,129,024 (GRCm39)	V124I	possibly damaging	Het
Parp2	T	A	14: 51,057,130 (GRCm39)	Y361N	probably damaging	Het
Pcf11	G	A	7: 92,307,039 (GRCm39)	P1043L	probably damaging	Het
Phf24	G	T	4: 42,933,761 (GRCm39)	V48L	possibly damaging	Het
Pkn1	C	A	8: 84,398,953 (GRCm39)	C678F	probably damaging	Het
Plcl2	T	C	17: 50,915,010 (GRCm39)	L673P	probably damaging	Het
Ppp1r3c	A	T	19: 36,711,617 (GRCm39)	F51Y	possibly damaging	Het
Smpdl3b	A	G	4: 132,472,449 (GRCm39)	V108A	probably damaging	Het
Sncaip	A	G	18: 53,001,781 (GRCm39)	T101A	probably benign	Het
Stk11	T	C	10: 79,961,920 (GRCm39)	V47A	probably damaging	Het
Tmpo	A	C	10: 90,998,958 (GRCm39)	I276M	probably benign	Het
Trim55	G	T	3: 19,725,256 (GRCm39)	V258L	possibly damaging	Het
Ttn	A	G	2: 76,560,756 (GRCm39)	V29215A	probably damaging	Het
Ubr4	T	G	4: 139,157,534 (GRCm39)	S2364A	probably benign	Het
Unc79	T	A	12: 103,045,329 (GRCm39)		probably null	Het
Upb1	T	C	10: 75,250,917 (GRCm39)		probably null	Het
Usp47	T	C	7: 111,655,787 (GRCm39)	S155P	possibly damaging	Het
Zfp628	A	T	7: 4,922,732 (GRCm39)	Q318L	probably benign	Het
Zfp729b	A	T	13: 67,739,253 (GRCm39)	V1004E	probably benign	Het

Other mutations in Rem2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03158:Rem2	APN	14	54,716,415 (GRCm39)	missense	probably benign	0.01
R0110:Rem2	UTSW	14	54,713,754 (GRCm39)	unclassified	probably benign
R0510:Rem2	UTSW	14	54,713,754 (GRCm39)	unclassified	probably benign
R1562:Rem2	UTSW	14	54,713,775 (GRCm39)	missense	probably benign	0.00
R1673:Rem2	UTSW	14	54,713,766 (GRCm39)	unclassified	probably benign
R1718:Rem2	UTSW	14	54,716,607 (GRCm39)	missense	probably damaging	1.00
R2878:Rem2	UTSW	14	54,713,819 (GRCm39)	missense	possibly damaging	0.92
R4569:Rem2	UTSW	14	54,715,116 (GRCm39)	missense	probably damaging	1.00
R4570:Rem2	UTSW	14	54,715,116 (GRCm39)	missense	probably damaging	1.00
R4571:Rem2	UTSW	14	54,715,116 (GRCm39)	missense	probably damaging	1.00
R6045:Rem2	UTSW	14	54,715,225 (GRCm39)	missense	probably damaging	1.00
R6521:Rem2	UTSW	14	54,715,144 (GRCm39)	missense	possibly damaging	0.72
R7042:Rem2	UTSW	14	54,715,548 (GRCm39)	missense	probably damaging	1.00
R7861:Rem2	UTSW	14	54,715,256 (GRCm39)	missense	probably damaging	1.00
Z1177:Rem2	UTSW	14	54,717,038 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCATCAGGAGGCGGGACAATTTC -3'
(R):5'- GATCAATATTTGGCAGGCAGCCAAC -3'

Sequencing Primer
(F):5'- GGGACAATTTCCCCAGGTG -3'
(R):5'- TCTGCCTAACAGGGCTGAG -3'

Posted On

2013-05-23