Mutagenetix > Incidental Mutation

Incidental Mutation 'R4569:Rem2'

342030

Institutional Source

Beutler Lab

Gene Symbol

Rem2

Ensembl Gene

ENSMUSG00000022176

Gene Name

rad and gem related GTP binding protein 2

Synonyms

MMRRC Submission

041793-MU

Accession Numbers

Essential gene?

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

Stock #

R4569 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54713557-54717888 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54715116 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 98 (S98P)

Ref Sequence

ENSEMBL: ENSMUSP00000127199 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000164697
AA Change: S98P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000132998
Gene: ENSMUSG00000022176
AA Change: S98P

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

probably damaging
Transcript: ENSMUST00000164766
AA Change: S98P

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

SMART Domains

Protein: ENSMUSP00000127199
Gene: ENSMUSG00000022176
AA Change: S98P

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

unknown
Transcript: ENSMUST00000168930
AA Change: S63P

SMART Domains

Protein: ENSMUSP00000131989
Gene: ENSMUSG00000022176
AA Change: S63P

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

0.0853

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

99% (87/88)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	A	G	7: 41,275,262 (GRCm39)	T322A	probably benign	Het
Abhd13	C	T	8: 10,038,071 (GRCm39)	P223S	possibly damaging	Het
Adgra3	T	A	5: 50,117,905 (GRCm39)	L1214F	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Ankrd13a	C	A	5: 114,927,373 (GRCm39)	P120Q	probably damaging	Het
Apbb1ip	A	G	2: 22,739,556 (GRCm39)	Y277C	probably damaging	Het
Arfgap1	T	C	2: 180,618,166 (GRCm39)		probably benign	Het
Arid2	T	A	15: 96,290,343 (GRCm39)	V1746D	probably damaging	Het
C1qtnf7	T	A	5: 43,766,549 (GRCm39)	N49K	possibly damaging	Het
Cacnb2	A	T	2: 14,990,811 (GRCm39)	D587V	possibly damaging	Het
Ccar2	A	T	14: 70,389,359 (GRCm39)		probably null	Het
Cdk2ap2	T	C	19: 4,147,879 (GRCm39)	F49L	possibly damaging	Het
Cdon	A	T	9: 35,388,265 (GRCm39)	I747F	probably damaging	Het
Cyp19a1	G	A	9: 54,100,607 (GRCm39)	P27S	probably benign	Het
Cyp4v3	T	A	8: 45,760,029 (GRCm39)	R508W	probably damaging	Het
Dclk1	T	C	3: 55,154,831 (GRCm39)	L87P	probably damaging	Het
Ddx41	G	A	13: 55,683,834 (GRCm39)	R66C	possibly damaging	Het
Dmxl1	T	C	18: 49,985,427 (GRCm39)	Y225H	probably damaging	Het
Dnah7a	G	A	1: 53,450,818 (GRCm39)	P3871S	probably benign	Het
Dnhd1	A	G	7: 105,306,373 (GRCm39)		probably null	Het
Dph1	A	T	11: 75,069,721 (GRCm39)		probably benign	Het
Egln2	A	G	7: 26,859,008 (GRCm39)	I382T	probably damaging	Het
Enpp3	A	G	10: 24,652,780 (GRCm39)	Y726H	probably damaging	Het
Fbxo32	A	G	15: 58,044,873 (GRCm39)	F353L	probably damaging	Het
Fchsd2	G	A	7: 100,926,809 (GRCm39)	G657D	possibly damaging	Het
Fer1l4	T	A	2: 155,878,559 (GRCm39)	E44V	possibly damaging	Het
Gjb2	C	T	14: 57,337,762 (GRCm39)	V149I	probably benign	Het
Glipr1l1	A	G	10: 111,898,317 (GRCm39)	M141V	probably benign	Het
Gnaq	T	C	19: 16,312,370 (GRCm39)	S211P	probably damaging	Het
Gnl1	A	G	17: 36,299,142 (GRCm39)	R527G	probably benign	Het
Gns	A	G	10: 121,217,083 (GRCm39)	Q286R	probably benign	Het
Gon4l	T	C	3: 88,817,397 (GRCm39)		probably benign	Het
Gpr107	T	C	2: 31,097,677 (GRCm39)		probably benign	Het
Gprasp1	C	T	X: 134,703,592 (GRCm39)	R1262C	probably damaging	Het
Gtf2ird1	A	T	5: 134,439,857 (GRCm39)	D124E	probably damaging	Het
Hbp1	T	A	12: 32,000,231 (GRCm39)		probably benign	Het
Hrnr	C	T	3: 93,230,875 (GRCm39)	T371I	unknown	Het
Ints2	A	G	11: 86,147,024 (GRCm39)	C41R	probably damaging	Het
Jhy	A	G	9: 40,822,389 (GRCm39)	I583T	probably benign	Het
Jph4	G	T	14: 55,352,503 (GRCm39)	R77S	probably damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Klhl12	A	T	1: 134,413,507 (GRCm39)	I331F	probably benign	Het
Map4k4	G	A	1: 40,039,698 (GRCm39)	R30Q	probably damaging	Het
Mgst1	C	A	6: 138,133,213 (GRCm39)	T176K	probably damaging	Het
Negr1	C	A	3: 156,914,013 (GRCm39)		probably benign	Het
Nrg1	C	T	8: 32,407,802 (GRCm39)	V144I	probably benign	Het
Ntmt2	T	A	1: 163,530,586 (GRCm39)	*284C	probably null	Het
Or1ad8	T	C	11: 50,898,381 (GRCm39)	I194T	possibly damaging	Het
Otog	A	G	7: 45,959,571 (GRCm39)	D720G	probably damaging	Het
Pex11b	A	T	3: 96,551,330 (GRCm39)		probably benign	Het
Phtf2	T	C	5: 20,994,593 (GRCm39)		probably benign	Het
Ppip5k1	C	T	2: 121,174,044 (GRCm39)	R359Q	possibly damaging	Het
Prickle2	T	C	6: 92,399,323 (GRCm39)	I185V	probably benign	Het
Prrc2a	G	A	17: 35,377,473 (GRCm39)	P562S	unknown	Het
Rdx	A	G	9: 51,980,141 (GRCm39)	I245V	probably benign	Het
Rhob	T	G	12: 8,549,373 (GRCm39)	D87A	probably damaging	Het
Ros1	T	A	10: 52,040,090 (GRCm39)	E300D	probably damaging	Het
Sbf2	A	G	7: 109,948,060 (GRCm39)		probably null	Het
Sipa1l3	G	T	7: 29,025,287 (GRCm39)	P619Q	probably damaging	Het
Snupn	A	G	9: 56,885,346 (GRCm39)	E217G	probably benign	Het
Ston2	T	A	12: 91,606,496 (GRCm39)	*896C	probably null	Het
Stradb	C	T	1: 59,019,117 (GRCm39)	R13*	probably null	Het
Tbx21	G	A	11: 97,005,581 (GRCm39)	A128V	probably benign	Het
Tep1	A	T	14: 51,062,197 (GRCm39)	C2552S	probably benign	Het
Tgif1	A	T	17: 71,151,912 (GRCm39)	V233E	possibly damaging	Het
Trim31	A	T	17: 37,209,633 (GRCm39)	I130L	probably benign	Het
Trrap	C	T	5: 144,728,928 (GRCm39)	T614I	probably benign	Het
Ttn	C	A	2: 76,766,758 (GRCm39)	V3107F	probably damaging	Het
Txnrd2	T	G	16: 18,274,956 (GRCm39)	D322E	probably benign	Het
Unc45b	T	A	11: 82,827,315 (GRCm39)		probably null	Het
Usp43	C	T	11: 67,789,788 (GRCm39)	C252Y	probably damaging	Het
Usp43	A	T	11: 67,766,178 (GRCm39)	L744*	probably null	Het
Vmn2r71	A	C	7: 85,273,402 (GRCm39)	K739Q	possibly damaging	Het
Vps16	C	T	2: 130,284,124 (GRCm39)	T653M	probably benign	Het
Wdr83os	T	A	8: 85,808,495 (GRCm39)	S82R	probably damaging	Het
Xpo6	T	A	7: 125,727,427 (GRCm39)	L526F	probably damaging	Het
Zfhx4	G	A	3: 5,466,894 (GRCm39)	V2351I	probably benign	Het
Zfp558	A	T	9: 18,367,799 (GRCm39)	C330S	possibly damaging	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
R0450: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
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'- TTAACCGCTCATCCGATGTC -3'
(R):5'- GCCCCTGAATACCTGAGTTCTC -3'

Sequencing Primer
(F):5'- ATGTCTAGATATATCTCACCCATGGC -3'
(R):5'- GAGTTCTCCATCTCGTGAGCATG -3'

Posted On

2015-09-24