Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02390:Atrn'

294232

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atrn

Ensembl Gene

ENSMUSG00000027312

Gene Name

attractin

Synonyms

Mgca

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02390

Quality Score

Status

Chromosome

Chromosomal Location

130906495-131030333 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 131020977 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 1326 (P1326S)

Ref Sequence

ENSEMBL: ENSMUSP00000028781 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028781]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028781
AA Change: P1326S

PolyPhen 2 Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000028781
Gene: ENSMUSG00000027312
AA Change: P1326S

Domain	Start	End	E-Value	Type
low complexity region	2	9	N/A	INTRINSIC
low complexity region	51	97	N/A	INTRINSIC
EGF	99	129	9.85e-5	SMART
CUB	131	247	7.85e-18	SMART
EGF	248	282	1.47e1	SMART
Pfam:Kelch_1	339	382	1.1e-7	PFAM
Pfam:Kelch_5	389	434	2.5e-7	PFAM
Pfam:Kelch_6	390	439	3.3e-8	PFAM
Pfam:Kelch_1	553	606	8.4e-8	PFAM
PSI	646	693	7.41e-7	SMART
PSI	702	747	8.64e-8	SMART
PSI	754	799	2.11e-2	SMART
CLECT	787	918	6.14e-20	SMART
PSI	931	982	1.11e-5	SMART
PSI	985	1060	1.2e-6	SMART
EGF_Lam	1062	1105	1.97e-4	SMART
EGF_like	1108	1154	3.9e0	SMART
transmembrane domain	1278	1300	N/A	INTRINSIC
low complexity region	1310	1322	N/A	INTRINSIC
low complexity region	1373	1385	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a widely expressed transmembrane glycoprotein that plays important roles in diverse physiological processes such as regulation of hair pigmentation, monocyte-T cell interaction and control of energy homeostasis. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional protein. Certain mutations in this gene are responsible for the mahogany mouse phenotype of dark brown or black coat on a normally agouti background. Mice with loss-of-function mutations in this gene exhibit black coat color, tremor, adiposity, higher basal metabolic rate, juvenile-onset hypomyelination and age-dependent spongiform neurodegeneration of the central nervous system. [provided by RefSeq, Jul 2016]
PHENOTYPE: Some mutant homozygotes exhibit decreases in phaeomelanin synthesis, body weight, and adiposity; increases in locomotion, and abnormal myelination and vacuolation of the central nervous system resulting in tremors. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406P16Rik	T	C	7: 34,248,218	D455G	probably damaging	Het
Abca5	T	C	11: 110,296,551	K894R	probably benign	Het
Ampd1	C	T	3: 103,079,041	A12V	probably benign	Het
Ano4	T	A	10: 89,024,981	D345V	possibly damaging	Het
Arl6	A	G	16: 59,621,217		probably null	Het
Atp2a3	C	A	11: 72,975,339	H262N	probably benign	Het
Btbd9	A	G	17: 30,524,814	V238A	probably benign	Het
Cdh16	T	C	8: 104,621,974	T141A	probably damaging	Het
Cetn4	T	C	3: 37,309,156	D102G	probably damaging	Het
Col5a3	T	A	9: 20,776,996	N1256I	unknown	Het
Cyfip2	A	G	11: 46,221,398	F993L	possibly damaging	Het
Dcaf6	T	A	1: 165,422,921	I125F	possibly damaging	Het
Dclk2	A	C	3: 86,824,683	S336A	probably damaging	Het
Dnah8	G	A	17: 30,830,845	V4327I	probably benign	Het
Ebna1bp2	T	C	4: 118,621,497	V59A	possibly damaging	Het
Efr3b	C	T	12: 3,983,391	V139I	probably benign	Het
F2	A	T	2: 91,632,987	V184D	possibly damaging	Het
Fbxo38	C	T	18: 62,533,589	R171H	probably damaging	Het
Fhod3	A	C	18: 25,066,275	S668R	probably benign	Het
Fkbp10	T	A	11: 100,416,017	F78L	probably damaging	Het
Gm13083	T	A	4: 143,615,325	M108K	probably benign	Het
Hyi	C	T	4: 118,362,613	R254C	probably benign	Het
Igfl3	A	T	7: 18,181,734		probably benign	Het
Lgals9	T	A	11: 78,963,535	I308F	probably damaging	Het
Lrrc8a	C	A	2: 30,256,701	P509Q	probably damaging	Het
Mapkap1	T	A	2: 34,432,089	N6K	probably damaging	Het
Mdh1b	T	A	1: 63,721,557	H115L	probably benign	Het
Med17	G	A	9: 15,277,667	R101*	probably null	Het
Mrpl15	T	C	1: 4,785,614	S22G	probably benign	Het
Nf1	T	A	11: 79,411,676		probably benign	Het
Nf1	T	C	11: 79,565,935	Y616H	possibly damaging	Het
Olfr107	A	T	17: 37,406,095	L182F	probably benign	Het
Olfr1312	A	T	2: 112,042,711	V107E	possibly damaging	Het
Olfr270	T	A	4: 52,971,263	I214N	probably damaging	Het
Olig1	C	A	16: 91,270,153	Q93K	probably damaging	Het
Otoa	C	A	7: 121,131,367	L597M	possibly damaging	Het
Parp16	C	T	9: 65,233,769	P207L	possibly damaging	Het
Pbrm1	T	A	14: 31,032,510	D162E	probably benign	Het
Prdm10	A	G	9: 31,353,389	I658V	possibly damaging	Het
Psg21	A	T	7: 18,652,631	H143Q	probably benign	Het
Rfx4	C	T	10: 84,840,150	R28W	probably damaging	Het
Sart1	T	G	19: 5,380,461	M753L	possibly damaging	Het
Smcr8	T	A	11: 60,779,722	D565E	probably benign	Het
Smyd4	T	A	11: 75,387,506		probably null	Het
Sned1	T	C	1: 93,261,664	V274A	probably benign	Het
Tbc1d13	T	C	2: 30,137,387		probably benign	Het
Tox	A	T	4: 6,697,534	I423N	possibly damaging	Het
Tsc2	A	T	17: 24,600,453	V1232D	probably damaging	Het
Uckl1	C	T	2: 181,574,419	V178I	possibly damaging	Het
Usp13	T	A	3: 32,931,716	Y175*	probably null	Het
Vwde	A	G	6: 13,190,685	V469A	probably damaging	Het

Other mutations in Atrn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00337:Atrn	APN	2	130958079	missense	probably damaging	1.00
IGL00571:Atrn	APN	2	130995048	missense	probably damaging	1.00
IGL01092:Atrn	APN	2	130947636	nonsense	probably null
IGL01572:Atrn	APN	2	131002795	missense	probably damaging	1.00
IGL01924:Atrn	APN	2	130935565	missense	probably damaging	1.00
IGL02116:Atrn	APN	2	130958089	missense	probably damaging	1.00
IGL02372:Atrn	APN	2	131002754	splice site	probably benign
IGL02548:Atrn	APN	2	130972282	missense	probably damaging	1.00
IGL02749:Atrn	APN	2	130970144	nonsense	probably null
IGL02749:Atrn	APN	2	130947734	splice site	probably benign
R0026:Atrn	UTSW	2	130957920	missense	probably damaging	1.00
R0403:Atrn	UTSW	2	130906859	missense	probably damaging	1.00
R0479:Atrn	UTSW	2	130999165	nonsense	probably null
R0544:Atrn	UTSW	2	130986826	missense	probably damaging	1.00
R0570:Atrn	UTSW	2	130980134	missense	probably benign	0.01
R0606:Atrn	UTSW	2	130906856	missense	possibly damaging	0.90
R0617:Atrn	UTSW	2	130995085	critical splice donor site	probably null
R0658:Atrn	UTSW	2	130970227	critical splice donor site	probably null
R1108:Atrn	UTSW	2	130957914	missense	probably damaging	1.00
R1112:Atrn	UTSW	2	130999161	missense	probably benign	0.04
R1219:Atrn	UTSW	2	131021007	missense	possibly damaging	0.90
R1422:Atrn	UTSW	2	130957914	missense	probably damaging	1.00
R1524:Atrn	UTSW	2	130957080	missense	probably benign	0.15
R1653:Atrn	UTSW	2	130935624	missense	probably benign
R1795:Atrn	UTSW	2	130972288	missense	probably benign
R1807:Atrn	UTSW	2	130982772	missense	possibly damaging	0.94
R1920:Atrn	UTSW	2	130995051	missense	probably damaging	1.00
R1921:Atrn	UTSW	2	130995051	missense	probably damaging	1.00
R1935:Atrn	UTSW	2	130958035	missense	probably damaging	1.00
R1982:Atrn	UTSW	2	130970222	missense	probably benign
R2000:Atrn	UTSW	2	130935588	missense	probably damaging	1.00
R2143:Atrn	UTSW	2	130957996	missense	probably benign	0.03
R2336:Atrn	UTSW	2	130957954	missense	probably damaging	1.00
R2679:Atrn	UTSW	2	130961675	critical splice donor site	probably null
R3426:Atrn	UTSW	2	131020956	missense	probably benign	0.06
R3909:Atrn	UTSW	2	130994207	missense	probably damaging	1.00
R4077:Atrn	UTSW	2	130964930	critical splice donor site	probably null
R4162:Atrn	UTSW	2	130994228	splice site	probably benign
R4195:Atrn	UTSW	2	130933412	missense	probably damaging	1.00
R4364:Atrn	UTSW	2	130970208	missense	probably benign	0.39
R4465:Atrn	UTSW	2	130960468	missense	probably benign	0.08
R4510:Atrn	UTSW	2	130935577	nonsense	probably null
R4511:Atrn	UTSW	2	130935577	nonsense	probably null
R4527:Atrn	UTSW	2	130973504	missense	probably benign	0.10
R4586:Atrn	UTSW	2	130982042	missense	probably damaging	1.00
R4592:Atrn	UTSW	2	130999130	intron	probably benign
R4658:Atrn	UTSW	2	130933429	missense	probably damaging	1.00
R4735:Atrn	UTSW	2	131020990	missense	probably benign	0.06
R4960:Atrn	UTSW	2	130995047	nonsense	probably null
R4999:Atrn	UTSW	2	130975954	missense	probably damaging	1.00
R5066:Atrn	UTSW	2	130994193	missense	possibly damaging	0.60
R5080:Atrn	UTSW	2	130970124	missense	possibly damaging	0.95
R5141:Atrn	UTSW	2	130999130	intron	probably benign
R5256:Atrn	UTSW	2	130946019	missense	probably benign	0.39
R5494:Atrn	UTSW	2	131023075	missense	probably damaging	1.00
R5678:Atrn	UTSW	2	130970016	missense	probably damaging	0.96
R5752:Atrn	UTSW	2	130906544	unclassified	probably benign
R5931:Atrn	UTSW	2	130933436	missense	possibly damaging	0.56
R6023:Atrn	UTSW	2	131020980	missense	probably benign	0.25
R6176:Atrn	UTSW	2	130946091	missense	probably benign	0.31
R6377:Atrn	UTSW	2	130979969	missense	probably damaging	1.00
R6433:Atrn	UTSW	2	131023027	missense	probably damaging	1.00
R7226:Atrn	UTSW	2	130986744	missense	probably damaging	0.99
R7402:Atrn	UTSW	2	130947600	missense	probably damaging	1.00
R7541:Atrn	UTSW	2	130961571	missense	possibly damaging	0.46
R7587:Atrn	UTSW	2	130980114	missense	probably damaging	1.00
R7872:Atrn	UTSW	2	130970227	critical splice donor site	probably null
R7910:Atrn	UTSW	2	130964887	missense	probably benign	0.04
R7913:Atrn	UTSW	2	130970211	missense	probably damaging	1.00
R7955:Atrn	UTSW	2	130970227	critical splice donor site	probably null
R7991:Atrn	UTSW	2	130964887	missense	probably benign	0.04
R7994:Atrn	UTSW	2	130970211	missense	probably damaging	1.00
R8044:Atrn	UTSW	2	130935529	missense	probably damaging	1.00
RF009:Atrn	UTSW	2	130906922	missense	probably benign	0.12
X0024:Atrn	UTSW	2	130958139	missense	probably damaging	1.00
Z1088:Atrn	UTSW	2	130973399	missense	probably benign
Z1176:Atrn	UTSW	2	130946193	missense	probably benign	0.27
Z1177:Atrn	UTSW	2	130946042	missense	probably damaging	0.99

Posted On

2015-04-16