Mutagenetix > Incidental Mutation

Incidental Mutation 'R7201:Slc6a2'

560311

Institutional Source

Beutler Lab

Gene Symbol

Slc6a2

Ensembl Gene

ENSMUSG00000055368

Gene Name

solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2

Synonyms

NE transporter, Slc6a5, NET, norepinephrine transporter

MMRRC Submission

045279-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.613) question?

Stock #

R7201 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93687100-93728295 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93722300 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 516 (Y516H)

Ref Sequence

ENSEMBL: ENSMUSP00000072709 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072939] [ENSMUST00000165470]

AlphaFold

O55192

Predicted Effect

probably damaging
Transcript: ENSMUST00000072939
AA Change: Y516H

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

SMART Domains

Protein: ENSMUSP00000072709
Gene: ENSMUSG00000055368
AA Change: Y516H

Domain	Start	End	E-Value	Type
Pfam:SNF	56	580	4.7e-242	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000165470
AA Change: Y516H

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

SMART Domains

Protein: ENSMUSP00000129869
Gene: ENSMUSG00000055368
AA Change: Y516H

Domain	Start	End	E-Value	Type
Pfam:SNF	56	580	4.7e-242	PFAM

Meta Mutation Damage Score

0.5770

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

99% (80/81)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the sodium:neurotransmitter symporter family. This member is a multi-pass membrane protein, which is responsible for reuptake of norepinephrine into presynaptic nerve terminals and is a regulator of norepinephrine homeostasis. Mutations in this gene cause orthostatic intolerance, a syndrome characterized by lightheadedness, fatigue, altered mentation and syncope. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]
PHENOTYPE: Norepinephrine homeostasis is abnormal in homozygous mutant mice. In addition to displaying altered behavior, mutant mice are hypersensitive to psychostimulants. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	G	11: 84,153,300 (GRCm39)	T903A	probably benign	Het
Acin1	A	T	14: 54,902,356 (GRCm39)	S479T	possibly damaging	Het
Actr6	A	T	10: 89,548,374 (GRCm39)	D370E	probably benign	Het
Adgrl3	T	C	5: 81,872,069 (GRCm39)	F921S	probably damaging	Het
Ankmy1	A	T	1: 92,814,546 (GRCm39)	H320Q	possibly damaging	Het
Arhgef5	C	T	6: 43,250,166 (GRCm39)	Q306*	probably null	Het
Art4	A	T	6: 136,831,547 (GRCm39)	V198E	probably benign	Het
Asph	G	A	4: 9,474,917 (GRCm39)	R686W	probably damaging	Het
Atg7	A	G	6: 114,754,018 (GRCm39)	H724R	probably damaging	Het
BC034090	A	G	1: 155,117,680 (GRCm39)	V146A	probably damaging	Het
Bcl2a1d	T	A	9: 88,613,639 (GRCm39)	Q45L	probably damaging	Het
Bmal1	T	A	7: 112,884,349 (GRCm39)	M122K	probably damaging	Het
Cd28	G	T	1: 60,802,332 (GRCm39)	E84*	probably null	Het
Ceacam3	G	A	7: 16,892,163 (GRCm39)	W302*	probably null	Het
Cerkl	T	C	2: 79,163,934 (GRCm39)	N462S	probably benign	Het
Cisd2	A	T	3: 135,116,974 (GRCm39)	L39H	probably damaging	Het
Col11a1	C	A	3: 113,883,806 (GRCm39)	T225K	unknown	Het
Col15a1	A	T	4: 47,307,752 (GRCm39)	Y1178F	possibly damaging	Het
Cul4a	T	C	8: 13,192,991 (GRCm39)	S630P	probably damaging	Het
Cyp2c38	T	A	19: 39,390,220 (GRCm39)	I327F	probably damaging	Het
Cyp3a25	A	C	5: 145,928,257 (GRCm39)	S263A	probably benign	Het
Cyp3a25	T	A	5: 145,939,868 (GRCm39)	L46F	probably benign	Het
Dmrta1	T	A	4: 89,580,408 (GRCm39)	L456*	probably null	Het
Dnah12	T	C	14: 26,536,579 (GRCm39)	L2165P	probably benign	Het
Dsg1a	C	A	18: 20,461,368 (GRCm39)	S253R	probably damaging	Het
Egln2	A	C	7: 26,859,744 (GRCm39)	I323S	probably damaging	Het
Fam171b	A	G	2: 83,708,574 (GRCm39)	T359A	probably damaging	Het
Fcgr2b	G	T	1: 170,790,966 (GRCm39)	Q276K	probably benign	Het
Fcrl2	C	T	3: 87,159,934 (GRCm39)	C440Y	probably damaging	Het
Fmnl2	T	C	2: 52,963,666 (GRCm39)	V266A	unknown	Het
Glo1	A	T	17: 30,816,828 (GRCm39)	D109E	probably benign	Het
Grin3b	A	G	10: 79,809,912 (GRCm39)	R473G	possibly damaging	Het
Ica1	G	A	6: 8,644,015 (GRCm39)	L425F	probably damaging	Het
Iho1	A	T	9: 108,281,974 (GRCm39)	D571E	probably damaging	Het
Ilrun	A	C	17: 28,013,044 (GRCm39)		probably null	Het
Kcnq5	T	C	1: 21,473,099 (GRCm39)	E716G	possibly damaging	Het
Klra17	A	T	6: 129,850,306 (GRCm39)	I48K	possibly damaging	Het
Lrrc66	G	T	5: 73,787,240 (GRCm39)	Q37K	probably benign	Het
Ly6a	T	A	15: 74,868,325 (GRCm39)	T55S	probably benign	Het
Lyst	T	A	13: 13,883,885 (GRCm39)	Y2924*	probably null	Het
Lyzl6	A	G	11: 103,522,177 (GRCm39)	Y140H	probably benign	Het
Mak	T	C	13: 41,204,916 (GRCm39)	I141V	possibly damaging	Het
Mapk7	A	G	11: 61,379,998 (GRCm39)	I789T	probably benign	Het
Mgat4f	A	G	1: 134,318,206 (GRCm39)	D326G	possibly damaging	Het
Mrpl4	T	C	9: 20,918,634 (GRCm39)	I123T	probably benign	Het
Mup18	G	C	4: 61,591,573 (GRCm39)		probably null	Het
Myef2	T	C	2: 124,938,082 (GRCm39)		probably null	Het
Myh7	T	C	14: 55,228,402 (GRCm39)	T235A	possibly damaging	Het
Myo18b	C	T	5: 112,863,325 (GRCm39)	C2171Y	probably damaging	Het
Nat8	A	T	6: 85,807,877 (GRCm39)	Y85*	probably null	Het
Nyap1	A	T	5: 137,734,524 (GRCm39)	S170T	probably damaging	Het
Ogfr	AGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	AGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	2: 180,236,887 (GRCm39)		probably benign	Het
Or10ah1-ps1	A	G	5: 143,123,553 (GRCm39)	Y157H	probably damaging	Het
Or1e32	A	G	11: 73,705,167 (GRCm39)	V247A	probably benign	Het
Or51a25	T	A	7: 102,373,692 (GRCm39)	I2F	probably benign	Het
Papss1	T	C	3: 131,305,687 (GRCm39)	L244P	probably damaging	Het
Pibf1	A	T	14: 99,433,844 (GRCm39)	D597V	probably damaging	Het
Pmpcb	T	A	5: 21,942,177 (GRCm39)	M1K	probably null	Het
Ppwd1	G	A	13: 104,343,680 (GRCm39)	P575L	probably damaging	Het
Pramel17	T	A	4: 101,695,338 (GRCm39)		probably null	Het
Prc1	A	G	7: 79,960,837 (GRCm39)	Q457R	possibly damaging	Het
Prdm10	T	C	9: 31,227,602 (GRCm39)	V69A	possibly damaging	Het
Prkdc	A	G	16: 15,516,667 (GRCm39)	I1014V	probably benign	Het
Rab3gap2	A	G	1: 184,999,388 (GRCm39)	Y999C	probably damaging	Het
Robo3	G	A	9: 37,335,626 (GRCm39)	Q539*	probably null	Het
Rps12	A	G	10: 23,661,129 (GRCm39)	Y127H	probably benign	Het
Sar1b	A	G	11: 51,679,079 (GRCm39)	D116G	probably benign	Het
Selenbp2	C	T	3: 94,609,664 (GRCm39)	P294L	probably benign	Het
Slit2	A	G	5: 48,394,627 (GRCm39)	N673S	probably null	Het
Snap91	A	T	9: 86,672,199 (GRCm39)		probably null	Het
Spata31h1	T	C	10: 82,127,461 (GRCm39)	M1850V	probably benign	Het
Srpk2	A	G	5: 23,712,626 (GRCm39)	F653L	possibly damaging	Het
Supt5	A	T	7: 28,016,213 (GRCm39)	S824T	probably benign	Het
Taar7a	A	G	10: 23,868,358 (GRCm39)	V341A	probably benign	Het
Tmem52	G	A	4: 155,554,778 (GRCm39)	G134R	probably damaging	Het
Ush2a	A	G	1: 188,606,951 (GRCm39)	T3949A	probably benign	Het
Usp32	GAACAAGTCCACAACAA	GAACAA	11: 84,913,681 (GRCm39)		probably null	Het
Vmn1r173	A	T	7: 23,401,583 (GRCm39)		probably benign	Het
Vmn2r118	G	A	17: 55,915,496 (GRCm39)	R485*	probably null	Het
Vwce	A	G	19: 10,615,479 (GRCm39)	E120G	possibly damaging	Het
Zfp143	T	C	7: 109,692,287 (GRCm39)	V566A	possibly damaging	Het

Other mutations in Slc6a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00570:Slc6a2	APN	8	93,723,685 (GRCm39)	missense	possibly damaging	0.57
IGL00864:Slc6a2	APN	8	93,722,622 (GRCm39)	missense	probably benign	0.02
IGL00910:Slc6a2	APN	8	93,722,728 (GRCm39)	missense	probably damaging	1.00
IGL01531:Slc6a2	APN	8	93,722,310 (GRCm39)	missense	probably damaging	1.00
IGL02209:Slc6a2	APN	8	93,720,688 (GRCm39)	missense	probably benign	0.41
IGL02962:Slc6a2	APN	8	93,699,390 (GRCm39)	nonsense	probably null
IGL03391:Slc6a2	APN	8	93,688,080 (GRCm39)	missense	probably damaging	1.00
H8786:Slc6a2	UTSW	8	93,721,268 (GRCm39)	missense	probably benign	0.03
R0308:Slc6a2	UTSW	8	93,687,988 (GRCm39)	missense	possibly damaging	0.83
R0632:Slc6a2	UTSW	8	93,719,429 (GRCm39)	splice site	probably benign
R0765:Slc6a2	UTSW	8	93,715,659 (GRCm39)	missense	probably damaging	0.96
R1250:Slc6a2	UTSW	8	93,719,491 (GRCm39)	missense	probably benign	0.12
R1444:Slc6a2	UTSW	8	93,697,882 (GRCm39)	missense	probably damaging	0.99
R1637:Slc6a2	UTSW	8	93,708,618 (GRCm39)	missense	probably benign	0.00
R1699:Slc6a2	UTSW	8	93,699,440 (GRCm39)	missense	possibly damaging	0.95
R1760:Slc6a2	UTSW	8	93,687,846 (GRCm39)	splice site	probably benign
R2046:Slc6a2	UTSW	8	93,699,554 (GRCm39)	nonsense	probably null
R2169:Slc6a2	UTSW	8	93,720,729 (GRCm39)	missense	probably benign	0.12
R2182:Slc6a2	UTSW	8	93,687,876 (GRCm39)	start codon destroyed	probably null	0.00
R3107:Slc6a2	UTSW	8	93,687,906 (GRCm39)	missense	probably benign	0.26
R3880:Slc6a2	UTSW	8	93,716,846 (GRCm39)	missense	probably damaging	1.00
R5092:Slc6a2	UTSW	8	93,721,347 (GRCm39)	missense	possibly damaging	0.87
R5684:Slc6a2	UTSW	8	93,715,681 (GRCm39)	missense	probably damaging	1.00
R6218:Slc6a2	UTSW	8	93,708,609 (GRCm39)	missense	probably benign
R6932:Slc6a2	UTSW	8	93,722,653 (GRCm39)	missense	probably benign	0.00
R7910:Slc6a2	UTSW	8	93,720,766 (GRCm39)	missense	possibly damaging	0.53
R8320:Slc6a2	UTSW	8	93,719,476 (GRCm39)	missense	probably benign	0.31
R8920:Slc6a2	UTSW	8	93,687,990 (GRCm39)	missense	probably benign
R8963:Slc6a2	UTSW	8	93,715,702 (GRCm39)	missense	probably benign	0.22

Predicted Primers

PCR Primer
(F):5'- TGTTTGCCATCATCAAAGTGC -3'
(R):5'- CACCCATTAAGGCCTGCATG -3'

Sequencing Primer
(F):5'- ATTCCAAGGTGGCAGTCTC -3'
(R):5'- TTAAGGCCTGCATGACCAG -3'

Posted On

2019-06-26