Mutagenetix > Incidental Mutation

Incidental Mutation 'R8487:Slc38a2'

657812

Institutional Source

Beutler Lab

Gene Symbol

Slc38a2

Ensembl Gene

ENSMUSG00000022462

Gene Name

solute carrier family 38, member 2

Synonyms

SNAT2, 5033402L14Rik

MMRRC Submission

067930-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.240) question?

Stock #

R8487 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

96585273-96597611 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 96593172 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 136 (Q136*)

Ref Sequence

ENSEMBL: ENSMUSP00000023099 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023099]

AlphaFold

Q8CFE6

Predicted Effect

probably null
Transcript: ENSMUST00000023099
AA Change: Q136*

SMART Domains

Protein: ENSMUSP00000023099
Gene: ENSMUSG00000022462
AA Change: Q136*

Domain	Start	End	E-Value	Type
low complexity region	10	30	N/A	INTRINSIC
Pfam:Aa_trans	69	492	2e-76	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

All alleles(18) : Targeted(2) Gene trapped(16)

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl2	T	C	3: 148,565,122 (GRCm39)	I153V	probably benign	Het
Arhgap21	A	C	2: 20,886,116 (GRCm39)	S354A	probably benign	Het
Bcan	T	C	3: 87,896,516 (GRCm39)	T727A	probably damaging	Het
Brinp1	C	T	4: 68,747,692 (GRCm39)	G137E	probably damaging	Het
Catsperd	A	G	17: 56,970,419 (GRCm39)	Y697C	probably damaging	Het
Ccdc39	T	A	3: 33,886,808 (GRCm39)	K267*	probably null	Het
Ccdc47	C	A	11: 106,092,971 (GRCm39)	V92L	possibly damaging	Het
Cyp2c54	A	T	19: 40,059,990 (GRCm39)	I181N	probably damaging	Het
Ddx60	A	T	8: 62,427,184 (GRCm39)	D753V	probably damaging	Het
Dlg2	A	T	7: 91,935,796 (GRCm39)	K641N	probably damaging	Het
Eloa	G	A	4: 135,736,668 (GRCm39)	R527C	probably benign	Het
Fancd2	C	T	6: 113,545,187 (GRCm39)	P835L	probably damaging	Het
Fbln2	C	G	6: 91,227,846 (GRCm39)	T428S	probably damaging	Het
Fbn2	G	A	18: 58,153,462 (GRCm39)	A2600V	possibly damaging	Het
Gbe1	A	G	16: 70,233,876 (GRCm39)	Y251C	probably damaging	Het
Gnptab	T	A	10: 88,268,508 (GRCm39)		probably null	Het
Hspa1a	T	A	17: 35,191,033 (GRCm39)		probably benign	Het
Ifi204	G	A	1: 173,587,839 (GRCm39)	P107S	probably damaging	Het
Kif6	A	G	17: 49,978,164 (GRCm39)	I119V	probably damaging	Het
Lmntd2	G	A	7: 140,790,427 (GRCm39)	H554Y	probably benign	Het
Lrrc8e	C	A	8: 4,284,218 (GRCm39)	H148N	probably damaging	Het
Lrriq1	T	C	10: 103,050,914 (GRCm39)	N613D	probably damaging	Het
Map4k4	C	T	1: 40,028,136 (GRCm39)	T319M	probably damaging	Het
Mbtps1	C	T	8: 120,268,413 (GRCm39)	V253I	probably damaging	Het
Mcm4	C	A	16: 15,450,042 (GRCm39)	C330F	probably damaging	Het
Mok	A	G	12: 110,776,341 (GRCm39)		probably null	Het
Nedd4	T	C	9: 72,577,321 (GRCm39)	C49R	probably damaging	Het
Nlrp4e	T	C	7: 23,020,983 (GRCm39)	V490A	probably benign	Het
Nsf	A	T	11: 103,819,584 (GRCm39)	F27I	probably damaging	Het
Or10g3b	A	T	14: 52,586,696 (GRCm39)	L269Q	probably damaging	Het
Or14c44	A	G	7: 86,061,647 (GRCm39)	S26G	probably benign	Het
Or4a47	T	C	2: 89,665,609 (GRCm39)	N227D	probably benign	Het
Or5p73	G	T	7: 108,064,784 (GRCm39)	M84I	possibly damaging	Het
Or6c66	A	G	10: 129,461,114 (GRCm39)	I272T	possibly damaging	Het
Pax1	A	G	2: 147,206,968 (GRCm39)	M1V	probably null	Het
Pcdhga12	A	G	18: 37,900,631 (GRCm39)	T488A	probably damaging	Het
Plekhh2	A	G	17: 84,864,909 (GRCm39)	D99G	possibly damaging	Het
Polr3h	T	C	15: 81,800,824 (GRCm39)	T173A	probably benign	Het
Pramel6	C	T	2: 87,339,045 (GRCm39)	L82F	probably damaging	Het
Ralgapa2	A	T	2: 146,230,463 (GRCm39)	I1034N	probably damaging	Het
Rbfox1	G	A	16: 7,042,319 (GRCm39)	V58I	probably damaging	Het
Reln	T	A	5: 22,104,027 (GRCm39)	I3315L	probably benign	Het
Rev3l	T	A	10: 39,682,844 (GRCm39)	S321T	probably damaging	Het
Ryr1	T	C	7: 28,740,292 (GRCm39)	T3908A	probably damaging	Het
Secisbp2l	G	T	2: 125,617,502 (GRCm39)	Y58*	probably null	Het
Sgms1	C	A	19: 32,102,697 (GRCm39)	V337L	probably benign	Het
Smarcd1	T	A	15: 99,605,657 (GRCm39)	V296D	probably damaging	Het
Smcr8	A	C	11: 60,674,822 (GRCm39)	H866P	probably damaging	Het
Spcs1	T	A	14: 30,722,721 (GRCm39)	I33L	probably benign	Het
Stxbp5	T	C	10: 9,688,033 (GRCm39)	R423G	possibly damaging	Het
Syt4	A	T	18: 31,576,790 (GRCm39)	M188K	possibly damaging	Het
Tchhl1	A	G	3: 93,376,869 (GRCm39)	D22G	probably damaging	Het
Tiparp	T	A	3: 65,453,655 (GRCm39)	N134K	probably benign	Het
Topaz1	A	G	9: 122,579,001 (GRCm39)	D637G	possibly damaging	Het
Trav14d-3-dv8	A	T	14: 53,316,192 (GRCm39)		probably benign	Het
Vmn1r19	A	T	6: 57,382,166 (GRCm39)	M240L	probably benign	Het
Vmn1r77	T	A	7: 11,775,514 (GRCm39)	S29T	probably damaging	Het
Vps13d	A	G	4: 144,881,817 (GRCm39)	F1253L	probably benign	Het
Zfp407	G	A	18: 84,580,895 (GRCm39)	R73*	probably null	Het
Zfp446	T	A	7: 12,716,555 (GRCm39)	F334I	possibly damaging	Het
Zfp654	A	T	16: 64,606,011 (GRCm39)	Y730*	probably null	Het

Other mutations in Slc38a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01116:Slc38a2	APN	15	96,591,066 (GRCm39)	splice site	probably benign
IGL01522:Slc38a2	APN	15	96,590,936 (GRCm39)	missense	possibly damaging	0.78
IGL01679:Slc38a2	APN	15	96,595,835 (GRCm39)	nonsense	probably null
IGL01720:Slc38a2	APN	15	96,589,092 (GRCm39)	splice site	probably benign
IGL02198:Slc38a2	APN	15	96,590,258 (GRCm39)	missense	probably damaging	0.99
IGL02685:Slc38a2	APN	15	96,589,306 (GRCm39)	missense	probably benign	0.00
IGL03211:Slc38a2	APN	15	96,596,153 (GRCm39)	splice site	probably null
P0014:Slc38a2	UTSW	15	96,588,042 (GRCm39)	missense	probably damaging	0.96
R0068:Slc38a2	UTSW	15	96,589,173 (GRCm39)	splice site	probably null
R0068:Slc38a2	UTSW	15	96,589,173 (GRCm39)	splice site	probably null
R0684:Slc38a2	UTSW	15	96,593,168 (GRCm39)	nonsense	probably null
R1537:Slc38a2	UTSW	15	96,591,034 (GRCm39)	missense	possibly damaging	0.50
R1638:Slc38a2	UTSW	15	96,590,417 (GRCm39)	missense	probably damaging	1.00
R1922:Slc38a2	UTSW	15	96,589,043 (GRCm39)	missense	possibly damaging	0.95
R2294:Slc38a2	UTSW	15	96,589,643 (GRCm39)	missense	probably benign
R4672:Slc38a2	UTSW	15	96,596,518 (GRCm39)	missense	probably benign	0.00
R5799:Slc38a2	UTSW	15	96,592,970 (GRCm39)	missense	probably benign	0.29
R5878:Slc38a2	UTSW	15	96,590,465 (GRCm39)	missense	probably damaging	0.96
R6188:Slc38a2	UTSW	15	96,590,397 (GRCm39)	critical splice donor site	probably null
R7097:Slc38a2	UTSW	15	96,591,182 (GRCm39)	missense	probably damaging	0.98
R7122:Slc38a2	UTSW	15	96,591,182 (GRCm39)	missense	probably damaging	0.98
R7130:Slc38a2	UTSW	15	96,589,263 (GRCm39)	missense	probably damaging	1.00
R7224:Slc38a2	UTSW	15	96,589,240 (GRCm39)	missense	probably damaging	1.00
R7776:Slc38a2	UTSW	15	96,588,033 (GRCm39)	missense	probably benign	0.04
R7896:Slc38a2	UTSW	15	96,591,466 (GRCm39)	missense	probably damaging	1.00
R7964:Slc38a2	UTSW	15	96,590,453 (GRCm39)	missense	probably benign	0.29
R8427:Slc38a2	UTSW	15	96,590,294 (GRCm39)	missense	probably damaging	0.98
R8845:Slc38a2	UTSW	15	96,592,900 (GRCm39)	missense	probably benign	0.00
R9400:Slc38a2	UTSW	15	96,591,053 (GRCm39)	missense	probably benign	0.14
R9606:Slc38a2	UTSW	15	96,591,172 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAAGTGCAAAATGGGGTCTGTG -3'
(R):5'- ATAACCGAGTGCCTTTCCC -3'

Sequencing Primer
(F):5'- TGACACCGCAGTCACGTTG -3'
(R):5'- CAGAATTCTCTTGACGTTCGTG -3'

Posted On

2021-01-18