Mutagenetix > Incidental Mutation

Incidental Mutation 'R8732:Slc44a2'

662815

Institutional Source

Beutler Lab

Gene Symbol

Slc44a2

Ensembl Gene

ENSMUSG00000057193

Gene Name

solute carrier family 44, member 2

Synonyms

CTL2, 1110028E10Rik

MMRRC Submission

068580-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8732 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21232015-21266324 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21259882 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 630 (D630G)

Ref Sequence

ENSEMBL: ENSMUSP00000034697 (fasta)

Gene Model

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

AlphaFold

Q8BY89

Predicted Effect

probably benign
Transcript: ENSMUST00000034697
AA Change: D630G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000034697
Gene: ENSMUSG00000057193
AA Change: D630G

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: ENSMUST00000215574

Predicted Effect

probably benign
Transcript: ENSMUST00000217461
AA Change: D628G

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.0%

Validation Efficiency

98% (63/64)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adtrp	A	T	13: 41,981,622 (GRCm39)	N82K	probably damaging	Het
Ankrd36	T	A	11: 5,578,906 (GRCm39)	S57T	possibly damaging	Het
Aoc3	A	G	11: 101,222,643 (GRCm39)	N293S	probably benign	Het
Aup1	A	T	6: 83,033,602 (GRCm39)	H302L	probably damaging	Het
Bptf	G	A	11: 106,931,206 (GRCm39)	R277W	probably damaging	Het
Cald1	A	G	6: 34,734,946 (GRCm39)	I346V	unknown	Het
Cd44	T	C	2: 102,664,645 (GRCm39)	T519A	possibly damaging	Het
Cela1	A	G	15: 100,580,766 (GRCm39)		probably null	Het
Ces2g	T	C	8: 105,689,195 (GRCm39)	V57A	possibly damaging	Het
Cpt1b	G	C	15: 89,308,628 (GRCm39)	T100S	probably benign	Het
D6Wsu163e	A	T	6: 126,932,859 (GRCm39)	I361F	possibly damaging	Het
Dock5	A	T	14: 68,083,449 (GRCm39)	D153E	possibly damaging	Het
Dync2h1	G	T	9: 7,168,326 (GRCm39)	R430S	probably damaging	Het
Dync2i2	T	A	2: 29,922,220 (GRCm39)	T414S	possibly damaging	Het
Efcab3	T	A	11: 104,695,100 (GRCm39)	F1730L	probably benign	Het
Eml5	C	T	12: 98,782,218 (GRCm39)	G1405R	probably damaging	Het
Ergic2	G	A	6: 148,102,975 (GRCm39)	A91V	probably damaging	Het
Fancl	A	T	11: 26,419,754 (GRCm39)	I336L	probably benign	Het
Fpr3	A	G	17: 18,191,223 (GRCm39)	T165A	possibly damaging	Het
Gon4l	A	G	3: 88,807,291 (GRCm39)	I1662V	possibly damaging	Het
Gpr153	C	T	4: 152,363,558 (GRCm39)		probably benign	Het
Hdac4	C	A	1: 91,875,239 (GRCm39)	A911S	probably damaging	Het
Ighd	T	C	12: 113,378,183 (GRCm39)	N139D		Het
Klhl22	T	A	16: 17,589,690 (GRCm39)	L117Q	probably damaging	Het
Kntc1	A	G	5: 123,928,180 (GRCm39)	S1226G	probably benign	Het
Lama5	A	T	2: 179,828,481 (GRCm39)	C2126S	probably damaging	Het
Ldlr	A	G	9: 21,650,985 (GRCm39)	I468V	probably benign	Het
Lmtk3	G	A	7: 45,447,712 (GRCm39)	A1253T	unknown	Het
Lta	T	A	17: 35,423,045 (GRCm39)	N93Y	probably damaging	Het
Macf1	A	T	4: 123,403,563 (GRCm39)		probably null	Het
Mink1	A	G	11: 70,500,902 (GRCm39)		probably null	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Ntpcr	A	G	8: 126,472,074 (GRCm39)	M132V	probably benign	Het
Or14a257	A	G	7: 86,138,061 (GRCm39)	S233P	probably damaging	Het
Or52n1	A	G	7: 104,383,115 (GRCm39)	M152T	probably benign	Het
Or7g32	T	C	9: 19,408,098 (GRCm39)	I18T	probably benign	Het
Padi2	A	G	4: 140,660,590 (GRCm39)	I357V	probably benign	Het
Pax7	G	T	4: 139,506,920 (GRCm39)	H372Q	probably benign	Het
Paxip1	A	G	5: 27,949,541 (GRCm39)	Y966H	probably damaging	Het
Pde4b	A	C	4: 102,412,822 (GRCm39)	D199A	probably null	Het
Pkd1l2	T	C	8: 117,792,311 (GRCm39)	N494D	probably benign	Het
Prdm2	G	T	4: 142,862,580 (GRCm39)	Q237K	probably benign	Het
Prune2	T	C	19: 17,097,769 (GRCm39)	L1091P	probably damaging	Het
Rab9	C	T	X: 165,240,754 (GRCm39)	D186N	probably benign	Het
Rassf5	A	G	1: 131,106,264 (GRCm39)	*414Q	probably null	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Rrp9	C	A	9: 106,360,388 (GRCm39)	T238K	probably benign	Het
Slc7a9	A	G	7: 35,156,443 (GRCm39)	D295G	probably benign	Het
Slco3a1	A	T	7: 73,934,054 (GRCm39)	M706K	possibly damaging	Het
Spag9	T	C	11: 93,962,514 (GRCm39)		probably null	Het
Stam2	A	T	2: 52,590,180 (GRCm39)	Y394N	probably damaging	Het
Stard9	T	C	2: 120,510,442 (GRCm39)	L341P	probably damaging	Het
Steap3	A	T	1: 120,171,624 (GRCm39)	H160Q	probably damaging	Het
Stxbp5l	A	T	16: 37,061,809 (GRCm39)	C334S	probably benign	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,650,884 (GRCm39)		probably null	Het
Tmem74	A	T	15: 43,731,456 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,537,480 (GRCm39)	K34816R	possibly damaging	Het
Ttn	T	A	2: 76,627,735 (GRCm39)	N14736I	probably damaging	Het
Vmn1r183	A	G	7: 23,754,890 (GRCm39)	Q231R	possibly damaging	Het
Vmn1r235	A	G	17: 21,482,439 (GRCm39)	T255A	probably damaging	Het
Wasl	A	T	6: 24,619,209 (GRCm39)	I437K	unknown	Het
Ywhae	A	G	11: 75,642,769 (GRCm39)	N43D	probably damaging	Het
Zfp583	A	T	7: 6,320,210 (GRCm39)	Y267*	probably null	Het
Zfp608	C	T	18: 55,121,072 (GRCm39)	G172R	probably benign	Het

Other mutations in Slc44a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00786:Slc44a2	APN	9	21,257,231 (GRCm39)	missense	probably damaging	0.96
IGL01506:Slc44a2	APN	9	21,249,246 (GRCm39)	missense	probably benign	0.30
IGL01687:Slc44a2	APN	9	21,257,243 (GRCm39)	missense	probably benign	0.00
IGL01786:Slc44a2	APN	9	21,263,782 (GRCm39)	missense	probably damaging	1.00
IGL01795:Slc44a2	APN	9	21,256,645 (GRCm39)	missense	probably damaging	0.97
IGL02338:Slc44a2	APN	9	21,258,338 (GRCm39)	missense	probably damaging	1.00
IGL02701:Slc44a2	APN	9	21,259,247 (GRCm39)	missense	probably benign	0.01
IGL02820:Slc44a2	APN	9	21,254,273 (GRCm39)	missense	probably benign
IGL03087:Slc44a2	APN	9	21,258,061 (GRCm39)	missense	probably benign	0.00
IGL03153:Slc44a2	APN	9	21,254,496 (GRCm39)	missense	probably benign	0.44
IGL03233:Slc44a2	APN	9	21,259,918 (GRCm39)	missense	possibly damaging	0.95
freighted	UTSW	9	21,253,265 (GRCm39)	missense	probably null	0.08
Loaded	UTSW	9	21,259,445 (GRCm39)	critical splice donor site	probably null
R1177:Slc44a2	UTSW	9	21,259,879 (GRCm39)	missense	probably benign	0.00
R1367:Slc44a2	UTSW	9	21,254,322 (GRCm39)	missense	probably benign	0.00
R1474:Slc44a2	UTSW	9	21,264,990 (GRCm39)	missense	probably damaging	0.99
R2077:Slc44a2	UTSW	9	21,265,020 (GRCm39)	missense	probably damaging	1.00
R2432:Slc44a2	UTSW	9	21,256,130 (GRCm39)	missense	probably damaging	1.00
R3722:Slc44a2	UTSW	9	21,254,273 (GRCm39)	missense	possibly damaging	0.78
R3958:Slc44a2	UTSW	9	21,259,837 (GRCm39)	missense	probably damaging	0.96
R4557:Slc44a2	UTSW	9	21,258,079 (GRCm39)	missense	possibly damaging	0.93
R4641:Slc44a2	UTSW	9	21,258,178 (GRCm39)	missense	probably damaging	1.00
R4725:Slc44a2	UTSW	9	21,259,691 (GRCm39)	missense	probably damaging	1.00
R4859:Slc44a2	UTSW	9	21,259,441 (GRCm39)	missense	probably damaging	0.98
R6701:Slc44a2	UTSW	9	21,232,149 (GRCm39)	critical splice donor site	probably null
R7068:Slc44a2	UTSW	9	21,232,144 (GRCm39)	missense	probably benign	0.00
R7206:Slc44a2	UTSW	9	21,258,103 (GRCm39)	missense	probably damaging	1.00
R7233:Slc44a2	UTSW	9	21,259,445 (GRCm39)	critical splice donor site	probably null
R7287:Slc44a2	UTSW	9	21,253,752 (GRCm39)	missense	probably benign
R7329:Slc44a2	UTSW	9	21,254,048 (GRCm39)	missense	probably damaging	1.00
R7432:Slc44a2	UTSW	9	21,254,511 (GRCm39)	missense	probably benign	0.00
R7442:Slc44a2	UTSW	9	21,256,819 (GRCm39)	missense	probably damaging	1.00
R7448:Slc44a2	UTSW	9	21,259,642 (GRCm39)	missense	possibly damaging	0.87
R7514:Slc44a2	UTSW	9	21,253,768 (GRCm39)	missense	possibly damaging	0.46
R7523:Slc44a2	UTSW	9	21,257,288 (GRCm39)	missense	probably null	0.81
R8167:Slc44a2	UTSW	9	21,258,068 (GRCm39)	missense	possibly damaging	0.67
R8211:Slc44a2	UTSW	9	21,259,434 (GRCm39)	missense	probably damaging	1.00
R8240:Slc44a2	UTSW	9	21,253,481 (GRCm39)	missense	probably benign
R8293:Slc44a2	UTSW	9	21,264,984 (GRCm39)	missense	probably damaging	1.00
R8294:Slc44a2	UTSW	9	21,259,643 (GRCm39)	missense	probably damaging	1.00
R8341:Slc44a2	UTSW	9	21,253,495 (GRCm39)	missense	probably benign	0.00
R8471:Slc44a2	UTSW	9	21,253,265 (GRCm39)	missense	probably null	0.08
R8892:Slc44a2	UTSW	9	21,253,153 (GRCm39)	splice site	probably benign
R9019:Slc44a2	UTSW	9	21,265,077 (GRCm39)	missense	probably damaging	0.99
R9149:Slc44a2	UTSW	9	21,253,305 (GRCm39)	missense	possibly damaging	0.67
R9318:Slc44a2	UTSW	9	21,253,268 (GRCm39)	missense	probably damaging	1.00
R9322:Slc44a2	UTSW	9	21,258,246 (GRCm39)	missense	probably damaging	1.00
R9449:Slc44a2	UTSW	9	21,258,333 (GRCm39)	missense
R9731:Slc44a2	UTSW	9	21,263,770 (GRCm39)	missense	possibly damaging	0.90
X0018:Slc44a2	UTSW	9	21,254,084 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACCAGGCCTGTCTATACTGAC -3'
(R):5'- TAGTCCCTAAGGAAAAGTCCCTC -3'

Sequencing Primer
(F):5'- GTCTATACTGACATCTGGGAGCC -3'
(R):5'- GGAAAAGTCCCTCCATCCCTGTG -3'

Posted On

2021-03-08