Mutagenetix > Incidental Mutation

Incidental Mutation 'R5069:Slc28a2b'

388522

Institutional Source

Beutler Lab

Gene Symbol

Slc28a2b

Ensembl Gene

ENSMUSG00000079071

Gene Name

solute carrier family 28 member 2b

Synonyms

Gm14085

MMRRC Submission

042659-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R5069 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

122315422-122358521 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 122324854 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 142 (N142I)

Ref Sequence

ENSEMBL: ENSMUSP00000106150 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110521]

AlphaFold

A2AWR5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110521
AA Change: N142I

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000106150
Gene: ENSMUSG00000079071
AA Change: N142I

Domain	Start	End	E-Value	Type
transmembrane domain	76	98	N/A	INTRINSIC
transmembrane domain	103	125	N/A	INTRINSIC
transmembrane domain	149	166	N/A	INTRINSIC
Pfam:Nucleos_tra2_N	180	253	2.3e-28	PFAM
Pfam:Gate	260	360	1.7e-10	PFAM
Pfam:Nucleos_tra2_C	363	587	4.6e-70	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,383,749 (GRCm39)	S739P	possibly damaging	Het
AAdacl4fm3	T	A	4: 144,430,437 (GRCm39)	D184V	probably damaging	Het
Actn2	A	G	13: 12,303,408 (GRCm39)	I464T	possibly damaging	Het
Adcy7	T	C	8: 89,054,325 (GRCm39)	L1060P	probably damaging	Het
Aff3	A	G	1: 38,220,694 (GRCm39)		probably null	Het
Ankar	T	C	1: 72,719,369 (GRCm39)		probably null	Het
Ankrd27	A	T	7: 35,327,860 (GRCm39)	K793N	probably damaging	Het
Arhgef28	T	C	13: 98,211,714 (GRCm39)	T90A	probably damaging	Het
Armc9	A	T	1: 86,184,959 (GRCm39)	H670L	probably benign	Het
Arvcf	A	G	16: 18,217,736 (GRCm39)	Y412C	probably damaging	Het
Ass1	C	T	2: 31,400,185 (GRCm39)	T301M	probably damaging	Het
Baiap3	A	T	17: 25,468,082 (GRCm39)	C283S	probably damaging	Het
Birc6	C	T	17: 74,872,967 (GRCm39)	R409C	probably damaging	Het
Calcoco1	A	G	15: 102,619,527 (GRCm39)	L354P	probably damaging	Het
Cdh3	A	G	8: 107,263,458 (GRCm39)	N126S	probably benign	Het
Cfap54	A	C	10: 92,773,636 (GRCm39)	F135L	probably benign	Het
Dlg1	G	T	16: 31,503,113 (GRCm39)		probably null	Het
Dnah3	T	C	7: 119,632,013 (GRCm39)	H1314R	probably benign	Het
Dsp	A	C	13: 38,381,099 (GRCm39)	T2615P	possibly damaging	Het
Elapor2	T	A	5: 9,490,897 (GRCm39)	C636S	probably damaging	Het
Enpp2	T	C	15: 54,727,450 (GRCm39)	Y513C	probably damaging	Het
Ercc6	T	C	14: 32,292,020 (GRCm39)	V1128A	probably benign	Het
Firrm	T	C	1: 163,815,243 (GRCm39)	T93A	possibly damaging	Het
Gipc2	A	G	3: 151,799,885 (GRCm39)	F282L	probably benign	Het
Gm1043	T	G	5: 37,344,580 (GRCm39)	L231R	probably damaging	Het
Gpr153	T	A	4: 152,364,340 (GRCm39)	M132K	probably damaging	Het
Hbs1l	T	A	10: 21,230,546 (GRCm39)	S496T	probably damaging	Het
Inpp5f	A	G	7: 128,278,451 (GRCm39)		probably null	Het
Kat6a	G	A	8: 23,393,149 (GRCm39)	C209Y	probably damaging	Het
Kcna2	T	A	3: 107,011,953 (GRCm39)	V178D	probably damaging	Het
Krt75	A	G	15: 101,474,673 (GRCm39)		probably null	Het
Letm2	G	A	8: 26,083,980 (GRCm39)	Q84*	probably null	Het
Mib1	A	G	18: 10,793,002 (GRCm39)	E646G	probably damaging	Het
Mmp14	T	A	14: 54,676,570 (GRCm39)	Y372N	probably damaging	Het
Muc6	A	G	7: 141,237,564 (GRCm39)	C218R	probably damaging	Het
Myof	A	T	19: 37,893,773 (GRCm39)	I1130N	possibly damaging	Het
Neil3	A	G	8: 54,054,076 (GRCm39)	S318P	possibly damaging	Het
Nhlh1	A	G	1: 171,881,467 (GRCm39)	V133A	probably benign	Het
Nup153	A	C	13: 46,863,268 (GRCm39)	S331A	probably benign	Het
Nup98	T	C	7: 101,794,862 (GRCm39)	T882A	probably benign	Het
Or11g2	T	A	14: 50,856,197 (GRCm39)	C173S	probably damaging	Het
Or11h4	C	A	14: 50,974,531 (GRCm39)	L29F	probably benign	Het
Or52ab4	A	T	7: 102,987,229 (GRCm39)		probably null	Het
Or9s23	T	A	1: 92,501,135 (GRCm39)	S81T	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pald1	A	T	10: 61,177,025 (GRCm39)	M675K	possibly damaging	Het
Pex5	A	G	6: 124,390,555 (GRCm39)	S97P	probably benign	Het
Pitpnm1	C	T	19: 4,161,140 (GRCm39)	A897V	probably benign	Het
Plxnd1	A	T	6: 115,942,862 (GRCm39)	V1274E	probably damaging	Het
Polr2a	T	C	11: 69,627,561 (GRCm39)		probably null	Het
Ppfia1	G	A	7: 144,068,210 (GRCm39)	Q446*	probably null	Het
Psma2	G	A	13: 14,790,613 (GRCm39)	V20I	probably benign	Het
Pwwp4a	T	C	X: 72,171,577 (GRCm39)	I323T	probably damaging	Het
Rhbdl2	T	A	4: 123,711,710 (GRCm39)	L149*	probably null	Het
Rnf17	T	C	14: 56,743,385 (GRCm39)	V1317A	probably damaging	Het
Rtel1	G	A	2: 180,997,285 (GRCm39)	V1042M	probably benign	Het
Sidt2	A	T	9: 45,850,759 (GRCm39)		probably null	Het
Slc11a1	G	A	1: 74,424,343 (GRCm39)	A434T	probably damaging	Het
Slc4a10	G	A	2: 62,097,915 (GRCm39)	R508H	probably benign	Het
Slc5a8	A	T	10: 88,722,460 (GRCm39)	I98F	possibly damaging	Het
Slf2	T	A	19: 44,923,692 (GRCm39)	S169T	possibly damaging	Het
Snx33	A	T	9: 56,833,475 (GRCm39)	I198N	probably damaging	Het
Spock3	A	G	8: 63,808,299 (GRCm39)	T396A	probably benign	Het
Sva	A	T	6: 42,015,351 (GRCm39)		probably benign	Het
Syt7	A	G	19: 10,416,601 (GRCm39)	N261S	probably benign	Het
Taar7b	T	G	10: 23,876,359 (GRCm39)	S175A	probably benign	Het
Thoc2	C	T	X: 40,895,570 (GRCm39)	E1491K	probably damaging	Het
Tlr1	T	C	5: 65,083,743 (GRCm39)	Y278C	probably benign	Het
Tph2	T	A	10: 114,987,079 (GRCm39)	Y237F	probably benign	Het
Trim35	C	T	14: 66,546,421 (GRCm39)		probably benign	Het
Trpm4	T	G	7: 44,959,893 (GRCm39)	Y667S	probably damaging	Het
Ttc27	T	A	17: 75,106,337 (GRCm39)	H541Q	probably damaging	Het
Ube4a	T	C	9: 44,851,387 (GRCm39)	H709R	probably damaging	Het
Vwa7	G	A	17: 35,243,166 (GRCm39)	V615I	probably benign	Het
Wars2	A	G	3: 99,094,849 (GRCm39)	H48R	probably damaging	Het
Xlr4c	T	A	X: 72,282,290 (GRCm39)	K121M	probably damaging	Het
Zfc3h1	T	A	10: 115,254,688 (GRCm39)	C1427*	probably null	Het

Other mutations in Slc28a2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00964:Slc28a2b	APN	2	122,347,527 (GRCm39)	missense	probably damaging	0.98
IGL01160:Slc28a2b	APN	2	122,355,277 (GRCm39)	critical splice acceptor site	probably null
IGL01838:Slc28a2b	APN	2	122,348,464 (GRCm39)	missense	possibly damaging	0.65
IGL01895:Slc28a2b	APN	2	122,355,572 (GRCm39)	missense	possibly damaging	0.75
IGL02999:Slc28a2b	APN	2	122,344,995 (GRCm39)	splice site	probably benign
Wilted	UTSW	2	122,353,963 (GRCm39)	missense	probably damaging	1.00
K2124:Slc28a2b	UTSW	2	122,355,634 (GRCm39)	missense	probably benign	0.00
R0084:Slc28a2b	UTSW	2	122,353,314 (GRCm39)	missense	possibly damaging	0.95
R0092:Slc28a2b	UTSW	2	122,348,078 (GRCm39)	splice site	probably benign
R0127:Slc28a2b	UTSW	2	122,347,550 (GRCm39)	critical splice donor site	probably null
R0200:Slc28a2b	UTSW	2	122,357,928 (GRCm39)	makesense	probably null
R0276:Slc28a2b	UTSW	2	122,352,409 (GRCm39)	missense	probably damaging	1.00
R0309:Slc28a2b	UTSW	2	122,348,034 (GRCm39)	missense	probably benign	0.04
R0403:Slc28a2b	UTSW	2	122,352,335 (GRCm39)	missense	probably damaging	1.00
R0600:Slc28a2b	UTSW	2	122,344,879 (GRCm39)	missense	probably damaging	0.97
R0612:Slc28a2b	UTSW	2	122,352,179 (GRCm39)	missense	probably damaging	1.00
R1676:Slc28a2b	UTSW	2	122,352,340 (GRCm39)	missense	probably damaging	0.99
R1801:Slc28a2b	UTSW	2	122,352,133 (GRCm39)	missense	possibly damaging	0.57
R1986:Slc28a2b	UTSW	2	122,357,910 (GRCm39)	missense	probably benign	0.00
R2050:Slc28a2b	UTSW	2	122,353,349 (GRCm39)	missense	probably benign	0.21
R3078:Slc28a2b	UTSW	2	122,344,895 (GRCm39)	missense	possibly damaging	0.63
R4075:Slc28a2b	UTSW	2	122,344,892 (GRCm39)	missense	probably benign	0.00
R4096:Slc28a2b	UTSW	2	122,353,209 (GRCm39)	missense	probably damaging	1.00
R4744:Slc28a2b	UTSW	2	122,353,286 (GRCm39)	nonsense	probably null
R4796:Slc28a2b	UTSW	2	122,344,940 (GRCm39)	missense	probably damaging	0.99
R5033:Slc28a2b	UTSW	2	122,353,395 (GRCm39)	critical splice donor site	probably null
R5288:Slc28a2b	UTSW	2	122,353,259 (GRCm39)	missense	probably benign	0.01
R5385:Slc28a2b	UTSW	2	122,353,259 (GRCm39)	missense	probably benign	0.01
R5386:Slc28a2b	UTSW	2	122,353,259 (GRCm39)	missense	probably benign	0.01
R5442:Slc28a2b	UTSW	2	122,317,350 (GRCm39)	missense	probably benign
R5795:Slc28a2b	UTSW	2	122,348,475 (GRCm39)	missense	possibly damaging	0.79
R6258:Slc28a2b	UTSW	2	122,353,963 (GRCm39)	missense	probably damaging	1.00
R6260:Slc28a2b	UTSW	2	122,353,963 (GRCm39)	missense	probably damaging	1.00
R6383:Slc28a2b	UTSW	2	122,355,288 (GRCm39)	missense	probably benign	0.00
R7226:Slc28a2b	UTSW	2	122,353,013 (GRCm39)	missense	probably benign	0.00
R7574:Slc28a2b	UTSW	2	122,353,325 (GRCm39)	missense	not run
R7633:Slc28a2b	UTSW	2	122,317,161 (GRCm39)	missense	probably null	0.05
R7705:Slc28a2b	UTSW	2	122,352,110 (GRCm39)	critical splice acceptor site	probably null
R7726:Slc28a2b	UTSW	2	122,317,214 (GRCm39)	missense	probably damaging	0.99
R7998:Slc28a2b	UTSW	2	122,324,839 (GRCm39)	missense	probably damaging	0.97
R8269:Slc28a2b	UTSW	2	122,352,169 (GRCm39)	missense	probably damaging	1.00
R8337:Slc28a2b	UTSW	2	122,355,617 (GRCm39)	missense	probably benign	0.06
R8546:Slc28a2b	UTSW	2	122,353,235 (GRCm39)	missense	probably benign	0.14
R8817:Slc28a2b	UTSW	2	122,348,988 (GRCm39)	missense	possibly damaging	0.95
R8931:Slc28a2b	UTSW	2	122,348,983 (GRCm39)	missense
R9070:Slc28a2b	UTSW	2	122,352,154 (GRCm39)	missense	probably damaging	1.00
R9542:Slc28a2b	UTSW	2	122,324,822 (GRCm39)	missense	probably benign	0.26
R9702:Slc28a2b	UTSW	2	122,354,012 (GRCm39)	missense	probably damaging	1.00
R9782:Slc28a2b	UTSW	2	122,352,338 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTTGCATGGAGGCTCAGC -3'
(R):5'- GTGAAAAGCTTTGATTCCCACCATG -3'

Sequencing Primer
(F):5'- GGCTCAGCCTTCCTGACC -3'
(R):5'- AAGCTTTGATTCCCACCATGATATTC -3'

Posted On

2016-06-06