Mutagenetix > Incidental Mutation

Incidental Mutation 'R2143:Atrn'

236458

Institutional Source

Beutler Lab

Gene Symbol

Atrn

Ensembl Gene

ENSMUSG00000027312

Gene Name

attractin

Synonyms

Mgca

MMRRC Submission

040146-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2143 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

130906495-131030333 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 130957996 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 431 (V431A)

Ref Sequence

ENSEMBL: ENSMUSP00000028781 (fasta)

Gene Model

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

AlphaFold

Q9WU60

Predicted Effect

probably benign
Transcript: ENSMUST00000028781
AA Change: V431A

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000028781
Gene: ENSMUSG00000027312
AA Change: V431A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134964

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.3%

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: 111 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	G	C	16: 88,759,165	S89T	probably benign	Het
4930522L14Rik	C	G	5: 109,736,750	C414S	probably damaging	Het
4930553M12Rik	G	A	4: 88,868,174	T69I	unknown	Het
4930553M12Rik	T	A	4: 88,868,175	T69S	unknown	Het
Apobr	G	A	7: 126,587,116	E600K	probably benign	Het
Armc8	C	A	9: 99,505,308	R419L	probably damaging	Het
Ash1l	T	A	3: 88,985,419	M1535K	probably benign	Het
Atf7ip2	A	G	16: 10,240,645	E316G	probably null	Het
Atp2a1	G	A	7: 126,448,725	R638*	probably null	Het
Atp5s	A	G	12: 69,741,054	Q88R	probably damaging	Het
Atp8b4	A	T	2: 126,374,510	I672N	probably damaging	Het
Babam1	T	C	8: 71,398,440	S116P	probably damaging	Het
Ccdc142	T	C	6: 83,102,222	L180P	probably damaging	Het
Cd52	T	C	4: 134,093,737		probably benign	Het
Cdk17	T	C	10: 93,218,019	L125P	probably damaging	Het
Ckap5	A	G	2: 91,565,745	D531G	probably benign	Het
Cntn5	G	T	9: 9,748,415	P487Q	probably damaging	Het
Crispld1	C	T	1: 17,749,636	T286I	probably benign	Het
Crtap	T	C	9: 114,379,968	Y336C	probably damaging	Het
Ctu2	T	A	8: 122,479,152	I213K	probably benign	Het
Dsc3	A	G	18: 19,980,686	F393S	possibly damaging	Het
Dsg2	T	A	18: 20,579,161	I118N	probably damaging	Het
Dstyk	T	A	1: 132,463,375	M838K	probably damaging	Het
Elmo3	T	C	8: 105,308,673	V450A	probably damaging	Het
Eml5	A	C	12: 98,810,605	F1417C	probably damaging	Het
Enam	T	A	5: 88,492,920	M147K	probably benign	Het
Entpd1	T	C	19: 40,736,783	Y409H	probably damaging	Het
Extl1	C	A	4: 134,371,044	E225D	probably benign	Het
Fbn2	A	G	18: 58,052,993	V1761A	possibly damaging	Het
Fsip2	A	T	2: 82,990,271	L5449F	possibly damaging	Het
Gabra5	G	A	7: 57,489,015	T95I	probably damaging	Het
Gal3st2c	C	T	1: 94,009,451	Q373*	probably null	Het
Gbp5	A	C	3: 142,503,832	T180P	probably damaging	Het
Glb1	T	C	9: 114,437,824	L212P	probably damaging	Het
Gm11596	A	T	11: 99,792,963	C110*	probably null	Het
Gpat2	T	C	2: 127,433,762	F487L	probably damaging	Het
Hsph1	A	T	5: 149,631,486	H110Q	probably damaging	Het
Ikbke	C	A	1: 131,273,474	V176L	probably damaging	Het
Ildr2	T	C	1: 166,269,326	V38A	probably damaging	Het
Inpp4a	G	T	1: 37,387,746	C326F	probably damaging	Het
Irak2	T	A	6: 113,672,827	V141D	probably benign	Het
Jade1	G	A	3: 41,604,708	R408Q	probably benign	Het
Jmjd7	C	A	2: 120,030,120		probably null	Het
Kdm7a	C	T	6: 39,168,950	V348I	possibly damaging	Het
Kif20a	A	G	18: 34,625,604	D42G	possibly damaging	Het
Klhl7	A	T	5: 24,100,863	M37L	probably benign	Het
Krt5	A	G	15: 101,712,359	I151T	probably damaging	Het
Krtap1-5	T	C	11: 99,580,818	I50V	probably benign	Het
Letm1	A	AG	5: 33,769,515		probably null	Het
Lrrc71	C	T	3: 87,745,521	W148*	probably null	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,185,261		probably null	Het
Map1a	T	A	2: 121,301,945	S843T	probably damaging	Het
Map1s	T	A	8: 70,910,964	D48E	probably damaging	Het
Mast4	A	G	13: 102,735,475	F2462L	possibly damaging	Het
Mettl21e	T	A	1: 44,210,238	Y86F	probably benign	Het
Myh6	A	T	14: 54,952,954	D1035E	probably damaging	Het
Naip6	C	T	13: 100,299,859	D719N	probably damaging	Het
Nat8f2	T	G	6: 85,868,257	H41P	probably benign	Het
Ncam1	T	A	9: 49,543,019	Q597L	possibly damaging	Het
Nek1	T	A	8: 61,028,696	I215K	probably damaging	Het
Nol11	A	T	11: 107,181,055	S237R	probably benign	Het
Npr2	T	C	4: 43,648,166	F870S	probably damaging	Het
Nsd1	T	C	13: 55,260,397	Y1285H	probably damaging	Het
Nup93	C	T	8: 94,296,480	Q229*	probably null	Het
Olfr1234	C	T	2: 89,363,103	E109K	probably damaging	Het
Olfr834	G	A	9: 18,988,803	A272T	probably benign	Het
Pappa	T	A	4: 65,180,949	Y568*	probably null	Het
Parva	A	G	7: 112,560,067	D180G	possibly damaging	Het
Pask	C	T	1: 93,321,297	A794T	probably benign	Het
Pax1	T	A	2: 147,365,882	C225S	probably damaging	Het
Pde4dip	T	A	3: 97,888,519	E51V	possibly damaging	Het
Pde6c	A	T	19: 38,162,329	H562L	probably damaging	Het
Pet100	T	G	8: 3,622,355	L14R	probably damaging	Het
Pfkfb2	T	C	1: 130,698,723	T438A	probably benign	Het
Pira2	A	T	7: 3,844,345	L115Q	probably damaging	Het
Polr2d	T	A	18: 31,796,079	L127Q	probably damaging	Het
Prkd1	A	G	12: 50,489,911	V130A	possibly damaging	Het
Psd3	T	C	8: 67,964,351	D45G	probably damaging	Het
Ptpn13	A	G	5: 103,556,133	T1344A	probably benign	Het
Ptpn6	T	A	6: 124,724,984	H406L	probably benign	Het
Ric1	A	T	19: 29,533,252	S78C	probably damaging	Het
Ric1	G	A	19: 29,533,253	S78N	probably damaging	Het
Scgb1b2	G	T	7: 31,291,763		probably benign	Het
Senp7	A	G	16: 56,169,806	H639R	probably benign	Het
Sgtb	A	T	13: 104,124,259	D72V	probably damaging	Het
Slc44a5	T	C	3: 154,258,449	M484T	probably benign	Het
Slc5a1	A	G	5: 33,160,796	K598E	probably benign	Het
Slit3	T	A	11: 35,612,261		probably null	Het
Smc1b	T	C	15: 85,123,802	H258R	probably benign	Het
Smu1	T	C	4: 40,744,073	D318G	probably damaging	Het
Sned1	T	A	1: 93,271,684	F495L	probably damaging	Het
Svs3a	C	A	2: 164,289,884	S124Y	probably damaging	Het
Syngr4	A	G	7: 45,887,040	V186A	probably benign	Het
Tarsl2	G	A	7: 65,655,791	M254I	possibly damaging	Het
Tdpoz1	T	A	3: 93,670,836	R214*	probably null	Het
Tm2d3	A	G	7: 65,695,239	D54G	probably damaging	Het
Trim66	A	T	7: 109,475,113	I647N	probably damaging	Het
Triml2	T	A	8: 43,193,511	W346R	probably damaging	Het
Trp53bp1	A	T	2: 121,216,064	V1085D	probably benign	Het
Trpv2	T	C	11: 62,592,786	V483A	probably benign	Het
Ugp2	G	T	11: 21,328,949	N412K	probably benign	Het
Upf1	T	C	8: 70,339,354	D418G	probably null	Het
Vmn2r77	C	A	7: 86,811,944	P826Q	probably damaging	Het
Vrtn	T	C	12: 84,650,162	M562T	probably benign	Het
Wdr55	A	G	18: 36,762,366	N132S	possibly damaging	Het
Wipf2	A	T	11: 98,896,214	R356S	possibly damaging	Het
Zdhhc6	T	C	19: 55,298,796	K411E	probably benign	Het
Zfp260	A	G	7: 30,105,340	K222E	probably damaging	Het
Zfp280d	A	G	9: 72,312,729	N237S	probably damaging	Het
Zfp445	T	G	9: 122,853,482	S465R	possibly damaging	Het
Zfp821	A	G	8: 109,724,347	D324G	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
IGL02390:Atrn	APN	2	131020977	missense	possibly damaging	0.82
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
BB010:Atrn	UTSW	2	130995066	missense	probably damaging	1.00
BB020:Atrn	UTSW	2	130995066	missense	probably damaging	1.00
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
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
R7933:Atrn	UTSW	2	130995066	missense	probably damaging	1.00
R8044:Atrn	UTSW	2	130935529	missense	probably damaging	1.00
R8079:Atrn	UTSW	2	131013641	missense	probably null	1.00
R8093:Atrn	UTSW	2	130975988	missense	probably benign	0.00
R8203:Atrn	UTSW	2	130960549	missense	probably benign	0.00
R8234:Atrn	UTSW	2	131023000	critical splice acceptor site	probably null
R8462:Atrn	UTSW	2	130935584	missense	probably damaging	1.00
R8816:Atrn	UTSW	2	130906878	missense	probably damaging	1.00
R8816:Atrn	UTSW	2	131004574	missense	probably damaging	1.00
R8831:Atrn	UTSW	2	130906601	missense	probably benign	0.22
R8937:Atrn	UTSW	2	130999237	missense	probably benign	0.00
R9161:Atrn	UTSW	2	130935550	missense	probably damaging	1.00
R9722:Atrn	UTSW	2	130961616	missense	probably damaging	1.00
R9786:Atrn	UTSW	2	130944889	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

Predicted Primers

PCR Primer
(F):5'- TGAGATTGTGAACCACTCATTGTTG -3'
(R):5'- ATTCAAGATGCCTCCACTGG -3'

Sequencing Primer
(F):5'- CTGCCATGTGGGTACTAGGAAC -3'
(R):5'- GCAATGACCGAAGATGAC -3'

Posted On

2014-10-01