Mutagenetix > Incidental Mutations

Incidental Mutation 'R7523:Slc44a2'

582790

Institutional Source

Beutler Lab

Gene Symbol

Slc44a2

Ensembl Gene

ENSMUSG00000057193

Gene Name

solute carrier family 44, member 2

Synonyms

1110028E10Rik, CTL2

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7523 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21320698-21355028 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21345992 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 411 (E411G)

Ref Sequence

ENSEMBL: ENSMUSP00000034697 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034697] [ENSMUST00000215574] [ENSMUST00000217461]

Predicted Effect

probably null
Transcript: ENSMUST00000034697
AA Change: E411G

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000034697
Gene: ENSMUSG00000057193
AA Change: E411G

Domain	Start	End	E-Value	Type
Blast:CLECT	4	37	8e-8	BLAST
transmembrane domain	231	253	N/A	INTRINSIC
transmembrane domain	255	277	N/A	INTRINSIC
Pfam:Choline_transpo	319	678	3.9e-119	PFAM
low complexity region	691	702	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000213535

Predicted Effect

probably benign
Transcript: ENSMUST00000214268

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215574
AA Change: E409G

PolyPhen 2 Score 0.621 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

probably null
Transcript: ENSMUST00000217461
AA Change: E409G

PolyPhen 2 Score 0.621 (Sensitivity: 0.87; Specificity: 0.91)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (46/46)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit cochlear hair cell loss, spiral ganglion degeneration, and progressive sensorineural hearing loss. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	A	2: 68,662,480	H40Q	unknown	Het
4932414N04Rik	A	T	2: 68,739,329	Q463L	probably benign	Het
Ano4	C	A	10: 88,971,395	E775*	probably null	Het
Atp12a	T	C	14: 56,365,968	V10A	possibly damaging	Het
Camkmt	A	G	17: 85,391,628	I144M	probably benign	Het
Cyth1	TGGGCAA	T	11: 118,183,923		probably null	Het
Dazl	G	A	17: 50,287,541	T162I	probably damaging	Het
Dnah10	A	G	5: 124,747,739	K653R	probably damaging	Het
Exosc10	A	T	4: 148,563,842		probably null	Het
Fam96b	G	A	8: 104,641,772		probably benign	Het
Fbn2	T	C	18: 58,066,080	D1372G	probably benign	Het
Fxr1	T	C	3: 34,039,543	V23A	probably benign	Het
Gmps	T	C	3: 64,011,666	I557T	possibly damaging	Het
Ifnab	A	T	4: 88,690,792	Y146N	probably damaging	Het
Krt78	T	C	15: 101,946,601	Y925C	not run	Het
Lrp1b	C	T	2: 41,511,461	V394M		Het
Ltbp2	T	C	12: 84,791,034	T1211A	probably benign	Het
Man2a2	G	C	7: 80,368,865	A82G	probably benign	Het
Mdn1	A	T	4: 32,667,270		probably null	Het
Myo15b	A	T	11: 115,890,858	I2798F	unknown	Het
Nat3	T	C	8: 67,547,574	I35T	probably damaging	Het
Nectin2	A	G	7: 19,730,112	V314A	probably benign	Het
Nexn	T	C	3: 152,247,178	R316G	probably benign	Het
Nfx1	A	G	4: 41,016,119	I894V	probably benign	Het
Olfr1045	T	C	2: 86,198,045	K236E	probably damaging	Het
Olfr15	T	C	16: 3,839,699	V242A	probably benign	Het
Pdcd4	G	T	19: 53,910,948	V123F	probably damaging	Het
Pik3c3	C	T	18: 30,293,655	R275W	probably damaging	Het
Ppt2	A	G	17: 34,626,803		probably null	Het
Prss35	T	A	9: 86,755,374	C66S	probably damaging	Het
Ptbp3	A	G	4: 59,546,159	V11A	probably benign	Het
Ptpn22	A	G	3: 103,912,015	N795S	probably damaging	Het
Ptprg	T	G	14: 12,237,130	I1383S	probably damaging	Het
Rtel1	G	A	2: 181,322,315	V36M	probably damaging	Het
Sf3b3	A	G	8: 110,813,720	I1023T	probably benign	Het
Stard9	T	C	2: 120,699,597	Y2112H	probably benign	Het
Tada2b	T	C	5: 36,476,767	I156V	probably benign	Het
Tenm2	A	T	11: 36,078,581		probably null	Het
Tle1	A	T	4: 72,145,418	S199R	possibly damaging	Het
Tubgcp2	A	G	7: 140,006,870	I399T	probably benign	Het
Ubr5	T	C	15: 38,004,055	N1344S		Het
Vmn2r114	A	G	17: 23,310,637	F164L	probably benign	Het
Vps13a	G	T	19: 16,703,789	T1041K	probably benign	Het
Zbtb20	T	C	16: 43,610,512	V389A	probably benign	Het
Zfp811	A	T	17: 32,797,752	I438N	probably benign	Het
Zfp90	A	G	8: 106,423,913	D86G	probably benign	Het

Other mutations in Slc44a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00786:Slc44a2	APN	9	21345935	missense	probably damaging	0.96
IGL01506:Slc44a2	APN	9	21337950	missense	probably benign	0.30
IGL01687:Slc44a2	APN	9	21345947	missense	probably benign	0.00
IGL01786:Slc44a2	APN	9	21352486	missense	probably damaging	1.00
IGL01795:Slc44a2	APN	9	21345349	missense	probably damaging	0.97
IGL02338:Slc44a2	APN	9	21347042	missense	probably damaging	1.00
IGL02701:Slc44a2	APN	9	21347951	missense	probably benign	0.01
IGL02820:Slc44a2	APN	9	21342977	missense	probably benign
IGL03087:Slc44a2	APN	9	21346765	missense	probably benign	0.00
IGL03153:Slc44a2	APN	9	21343200	missense	probably benign	0.44
IGL03233:Slc44a2	APN	9	21348622	missense	possibly damaging	0.95
Loaded	UTSW	9	21348149	critical splice donor site	probably null
R1177:Slc44a2	UTSW	9	21348583	missense	probably benign	0.00
R1367:Slc44a2	UTSW	9	21343026	missense	probably benign	0.00
R1474:Slc44a2	UTSW	9	21353694	missense	probably damaging	0.99
R2077:Slc44a2	UTSW	9	21353724	missense	probably damaging	1.00
R2432:Slc44a2	UTSW	9	21344834	missense	probably damaging	1.00
R3722:Slc44a2	UTSW	9	21342977	missense	possibly damaging	0.78
R3958:Slc44a2	UTSW	9	21348541	missense	probably damaging	0.96
R4557:Slc44a2	UTSW	9	21346783	missense	possibly damaging	0.93
R4641:Slc44a2	UTSW	9	21346882	missense	probably damaging	1.00
R4725:Slc44a2	UTSW	9	21348395	missense	probably damaging	1.00
R4859:Slc44a2	UTSW	9	21348145	missense	probably damaging	0.98
R6701:Slc44a2	UTSW	9	21320853	critical splice donor site	probably null
R7068:Slc44a2	UTSW	9	21320848	missense	probably benign	0.00
R7206:Slc44a2	UTSW	9	21346807	missense	probably damaging	1.00
R7233:Slc44a2	UTSW	9	21348149	critical splice donor site	probably null
R7287:Slc44a2	UTSW	9	21342456	missense	probably benign
R7329:Slc44a2	UTSW	9	21342752	missense	probably damaging	1.00
R7432:Slc44a2	UTSW	9	21343215	missense	probably benign	0.00
R7442:Slc44a2	UTSW	9	21345523	missense	probably damaging	1.00
R7448:Slc44a2	UTSW	9	21348346	missense	possibly damaging	0.87
R7514:Slc44a2	UTSW	9	21342472	missense	possibly damaging	0.46
R8167:Slc44a2	UTSW	9	21346772	missense	possibly damaging	0.67
R8211:Slc44a2	UTSW	9	21348138	missense	probably damaging	1.00
R8240:Slc44a2	UTSW	9	21342185	missense	probably benign
R8293:Slc44a2	UTSW	9	21353688	missense	probably damaging	1.00
R8294:Slc44a2	UTSW	9	21348347	missense	probably damaging	1.00
R8341:Slc44a2	UTSW	9	21342199	missense	probably benign	0.00
R8471:Slc44a2	UTSW	9	21341969	missense	probably null	0.08
X0018:Slc44a2	UTSW	9	21342788	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ATGAGCTAGCCTCCTACCTC -3'
(R):5'- TTAGTGAGAGATGCTGTCTGAAAGG -3'

Sequencing Primer
(F):5'- CTGAAGTCTCAGGATTCCAAGG -3'
(R):5'- ATGCTGTCTGAAAGGAGTAAGGTTG -3'

Posted On

2019-10-17