Mutagenetix > Incidental Mutation

Incidental Mutation 'R4592:Atrn'

342881

Institutional Source

Beutler Lab

Gene Symbol

Atrn

Ensembl Gene

ENSMUSG00000027312

Gene Name

attractin

Synonyms

Mgca

MMRRC Submission

041808-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4592 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130906495-131030333 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 130999130 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000028781 (fasta)

Gene Model

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

AlphaFold

Q9WU60

Predicted Effect

probably benign
Transcript: ENSMUST00000028781

SMART Domains

Protein: ENSMUSP00000028781
Gene: ENSMUSG00000027312

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: ENSMUST00000132557

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134964

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151364

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (64/65)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001P01Rik	A	G	11: 97,771,615 (GRCm38)	S144P	probably damaging	Het
4933430I17Rik	T	A	4: 62,538,927 (GRCm38)	V161E	possibly damaging	Het
Arhgap40	T	C	2: 158,546,709 (GRCm38)	V521A	possibly damaging	Het
Casp12	T	C	9: 5,352,923 (GRCm38)		probably benign	Het
Ccdc189	C	T	7: 127,585,491 (GRCm38)	R172H	probably benign	Het
Cenpf	G	A	1: 189,679,033 (GRCm38)	T318M	probably damaging	Het
Clcn2	T	C	16: 20,709,142 (GRCm38)	K525E	probably damaging	Het
Cntln	A	G	4: 84,971,182 (GRCm38)	T301A	probably benign	Het
Crat	T	C	2: 30,415,366 (GRCm38)		probably benign	Het
Cul5	A	G	9: 53,633,727 (GRCm38)		probably benign	Het
Cxcl14	A	T	13: 56,295,895 (GRCm38)	I34N	probably damaging	Het
Cyp2b19	A	G	7: 26,771,394 (GRCm38)	I487V	probably benign	Het
Cyp4a10	T	A	4: 115,529,493 (GRCm38)	F446I	probably damaging	Het
D430041D05Rik	T	A	2: 104,233,479 (GRCm38)	M659L	possibly damaging	Het
Dclk3	T	C	9: 111,467,895 (GRCm38)	F169S	probably damaging	Het
Ddx52	T	C	11: 83,957,480 (GRCm38)	I532T	probably damaging	Het
Dnm1	T	C	2: 32,336,011 (GRCm38)	D352G	probably damaging	Het
Eif4g2	T	C	7: 111,078,302 (GRCm38)	E174G	probably damaging	Het
Enpp6	G	T	8: 47,093,032 (GRCm38)	V386L	probably damaging	Het
Eps15l1	T	C	8: 72,341,394 (GRCm38)	D904G	probably damaging	Het
Esrrb	A	G	12: 86,518,830 (GRCm38)	Y356C	probably damaging	Het
Flt3	A	T	5: 147,354,699 (GRCm38)	S619T	possibly damaging	Het
Fndc7	A	T	3: 108,858,902 (GRCm38)	C716S	probably damaging	Het
Gm10125	T	C	18: 5,525,375 (GRCm38)		noncoding transcript	Het
Gm26996	T	A	6: 130,579,485 (GRCm38)		noncoding transcript	Het
Grik2	A	T	10: 49,422,615 (GRCm38)	F50I	possibly damaging	Het
Guf1	T	C	5: 69,566,443 (GRCm38)	V367A	possibly damaging	Het
Hspg2	C	T	4: 137,518,940 (GRCm38)	R1010C	probably damaging	Het
Ifnar2	T	C	16: 91,391,796 (GRCm38)	V55A	probably benign	Het
Impg1	T	A	9: 80,440,854 (GRCm38)	I33F	probably benign	Het
Ltbp4	A	C	7: 27,325,183 (GRCm38)	V674G	probably damaging	Het
Mroh2b	T	A	15: 4,918,290 (GRCm38)	L529H	probably damaging	Het
Negr1	T	C	3: 157,208,386 (GRCm38)		probably benign	Het
Neurog3	A	G	10: 62,133,820 (GRCm38)	T25A	probably damaging	Het
Olfr1241	T	A	2: 89,482,756 (GRCm38)	K126N	probably damaging	Het
Olfr1420	T	C	19: 11,896,762 (GRCm38)	V247A	probably benign	Het
Olfr181	T	C	16: 58,926,092 (GRCm38)	T160A	probably benign	Het
Olfr555	A	C	7: 102,659,478 (GRCm38)	Y219S	probably damaging	Het
Pax8	T	A	2: 24,443,189 (GRCm38)		probably benign	Het
Pcsk6	A	C	7: 65,931,732 (GRCm38)	I254L	possibly damaging	Het
Pde3a	A	G	6: 141,459,216 (GRCm38)	K389R	probably benign	Het
Rab3gap1	C	A	1: 127,925,259 (GRCm38)		probably benign	Het
Rbck1	G	A	2: 152,318,733 (GRCm38)	Q428*	probably null	Het
Rptor	A	G	11: 119,798,840 (GRCm38)	D321G	probably null	Het
Sall2	C	A	14: 52,313,803 (GRCm38)	R643L	probably damaging	Het
Sdccag3	C	A	2: 26,388,897 (GRCm38)		probably benign	Het
Skp1a	T	C	11: 52,243,619 (GRCm38)	I59T	possibly damaging	Het
Slc23a3	T	G	1: 75,128,556 (GRCm38)	N456T	probably damaging	Het
Slc4a7	G	A	14: 14,778,850 (GRCm38)	G920S	probably damaging	Het
Smarcd3	T	C	5: 24,592,804 (GRCm38)	I467V	probably benign	Het
Spata31d1c	C	T	13: 65,036,060 (GRCm38)	A472V	probably damaging	Het
Srsf6	T	C	2: 162,931,723 (GRCm38)	I18T	probably damaging	Het
Stom	C	T	2: 35,323,746 (GRCm38)	G80D	probably damaging	Het
Svep1	A	T	4: 58,084,028 (GRCm38)	Y1915N	possibly damaging	Het
Tmf1	C	T	6: 97,173,400 (GRCm38)	V449I	probably benign	Het
Triobp	C	T	15: 78,967,095 (GRCm38)	A483V	probably benign	Het
Vdac1	G	A	11: 52,374,972 (GRCm38)		probably null	Het
Vmn2r75	T	G	7: 86,166,286 (GRCm38)	E123D	probably benign	Het
Vmn2r79	T	A	7: 87,004,111 (GRCm38)	V528D	possibly damaging	Het
Zdbf2	T	G	1: 63,306,591 (GRCm38)	N1376K	possibly damaging	Het

Other mutations in Atrn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00337:Atrn	APN	2	130,958,079 (GRCm38)	missense	probably damaging	1.00
IGL00571:Atrn	APN	2	130,995,048 (GRCm38)	missense	probably damaging	1.00
IGL01092:Atrn	APN	2	130,947,636 (GRCm38)	nonsense	probably null
IGL01572:Atrn	APN	2	131,002,795 (GRCm38)	missense	probably damaging	1.00
IGL01924:Atrn	APN	2	130,935,565 (GRCm38)	missense	probably damaging	1.00
IGL02116:Atrn	APN	2	130,958,089 (GRCm38)	missense	probably damaging	1.00
IGL02372:Atrn	APN	2	131,002,754 (GRCm38)	splice site	probably benign
IGL02390:Atrn	APN	2	131,020,977 (GRCm38)	missense	possibly damaging	0.82
IGL02548:Atrn	APN	2	130,972,282 (GRCm38)	missense	probably damaging	1.00
IGL02749:Atrn	APN	2	130,947,734 (GRCm38)	splice site	probably benign
IGL02749:Atrn	APN	2	130,970,144 (GRCm38)	nonsense	probably null
BB010:Atrn	UTSW	2	130,995,066 (GRCm38)	missense	probably damaging	1.00
BB020:Atrn	UTSW	2	130,995,066 (GRCm38)	missense	probably damaging	1.00
R0026:Atrn	UTSW	2	130,957,920 (GRCm38)	missense	probably damaging	1.00
R0403:Atrn	UTSW	2	130,906,859 (GRCm38)	missense	probably damaging	1.00
R0479:Atrn	UTSW	2	130,999,165 (GRCm38)	nonsense	probably null
R0544:Atrn	UTSW	2	130,986,826 (GRCm38)	missense	probably damaging	1.00
R0570:Atrn	UTSW	2	130,980,134 (GRCm38)	missense	probably benign	0.01
R0606:Atrn	UTSW	2	130,906,856 (GRCm38)	missense	possibly damaging	0.90
R0617:Atrn	UTSW	2	130,995,085 (GRCm38)	critical splice donor site	probably null
R0658:Atrn	UTSW	2	130,970,227 (GRCm38)	critical splice donor site	probably null
R1108:Atrn	UTSW	2	130,957,914 (GRCm38)	missense	probably damaging	1.00
R1112:Atrn	UTSW	2	130,999,161 (GRCm38)	missense	probably benign	0.04
R1219:Atrn	UTSW	2	131,021,007 (GRCm38)	missense	possibly damaging	0.90
R1422:Atrn	UTSW	2	130,957,914 (GRCm38)	missense	probably damaging	1.00
R1524:Atrn	UTSW	2	130,957,080 (GRCm38)	missense	probably benign	0.15
R1653:Atrn	UTSW	2	130,935,624 (GRCm38)	missense	probably benign
R1795:Atrn	UTSW	2	130,972,288 (GRCm38)	missense	probably benign
R1807:Atrn	UTSW	2	130,982,772 (GRCm38)	missense	possibly damaging	0.94
R1920:Atrn	UTSW	2	130,995,051 (GRCm38)	missense	probably damaging	1.00
R1921:Atrn	UTSW	2	130,995,051 (GRCm38)	missense	probably damaging	1.00
R1935:Atrn	UTSW	2	130,958,035 (GRCm38)	missense	probably damaging	1.00
R1982:Atrn	UTSW	2	130,970,222 (GRCm38)	missense	probably benign
R2000:Atrn	UTSW	2	130,935,588 (GRCm38)	missense	probably damaging	1.00
R2143:Atrn	UTSW	2	130,957,996 (GRCm38)	missense	probably benign	0.03
R2336:Atrn	UTSW	2	130,957,954 (GRCm38)	missense	probably damaging	1.00
R2679:Atrn	UTSW	2	130,961,675 (GRCm38)	critical splice donor site	probably null
R3426:Atrn	UTSW	2	131,020,956 (GRCm38)	missense	probably benign	0.06
R3909:Atrn	UTSW	2	130,994,207 (GRCm38)	missense	probably damaging	1.00
R4077:Atrn	UTSW	2	130,964,930 (GRCm38)	critical splice donor site	probably null
R4162:Atrn	UTSW	2	130,994,228 (GRCm38)	splice site	probably benign
R4195:Atrn	UTSW	2	130,933,412 (GRCm38)	missense	probably damaging	1.00
R4364:Atrn	UTSW	2	130,970,208 (GRCm38)	missense	probably benign	0.39
R4465:Atrn	UTSW	2	130,960,468 (GRCm38)	missense	probably benign	0.08
R4510:Atrn	UTSW	2	130,935,577 (GRCm38)	nonsense	probably null
R4511:Atrn	UTSW	2	130,935,577 (GRCm38)	nonsense	probably null
R4527:Atrn	UTSW	2	130,973,504 (GRCm38)	missense	probably benign	0.10
R4586:Atrn	UTSW	2	130,982,042 (GRCm38)	missense	probably damaging	1.00
R4658:Atrn	UTSW	2	130,933,429 (GRCm38)	missense	probably damaging	1.00
R4735:Atrn	UTSW	2	131,020,990 (GRCm38)	missense	probably benign	0.06
R4960:Atrn	UTSW	2	130,995,047 (GRCm38)	nonsense	probably null
R4999:Atrn	UTSW	2	130,975,954 (GRCm38)	missense	probably damaging	1.00
R5066:Atrn	UTSW	2	130,994,193 (GRCm38)	missense	possibly damaging	0.60
R5080:Atrn	UTSW	2	130,970,124 (GRCm38)	missense	possibly damaging	0.95
R5141:Atrn	UTSW	2	130,999,130 (GRCm38)	intron	probably benign
R5256:Atrn	UTSW	2	130,946,019 (GRCm38)	missense	probably benign	0.39
R5494:Atrn	UTSW	2	131,023,075 (GRCm38)	missense	probably damaging	1.00
R5678:Atrn	UTSW	2	130,970,016 (GRCm38)	missense	probably damaging	0.96
R5752:Atrn	UTSW	2	130,906,544 (GRCm38)	unclassified	probably benign
R5931:Atrn	UTSW	2	130,933,436 (GRCm38)	missense	possibly damaging	0.56
R6023:Atrn	UTSW	2	131,020,980 (GRCm38)	missense	probably benign	0.25
R6176:Atrn	UTSW	2	130,946,091 (GRCm38)	missense	probably benign	0.31
R6377:Atrn	UTSW	2	130,979,969 (GRCm38)	missense	probably damaging	1.00
R6433:Atrn	UTSW	2	131,023,027 (GRCm38)	missense	probably damaging	1.00
R7226:Atrn	UTSW	2	130,986,744 (GRCm38)	missense	probably damaging	0.99
R7402:Atrn	UTSW	2	130,947,600 (GRCm38)	missense	probably damaging	1.00
R7541:Atrn	UTSW	2	130,961,571 (GRCm38)	missense	possibly damaging	0.46
R7587:Atrn	UTSW	2	130,980,114 (GRCm38)	missense	probably damaging	1.00
R7872:Atrn	UTSW	2	130,970,227 (GRCm38)	critical splice donor site	probably null
R7910:Atrn	UTSW	2	130,964,887 (GRCm38)	missense	probably benign	0.04
R7913:Atrn	UTSW	2	130,970,211 (GRCm38)	missense	probably damaging	1.00
R7933:Atrn	UTSW	2	130,995,066 (GRCm38)	missense	probably damaging	1.00
R8044:Atrn	UTSW	2	130,935,529 (GRCm38)	missense	probably damaging	1.00
R8079:Atrn	UTSW	2	131,013,641 (GRCm38)	missense	probably null	1.00
R8093:Atrn	UTSW	2	130,975,988 (GRCm38)	missense	probably benign	0.00
R8203:Atrn	UTSW	2	130,960,549 (GRCm38)	missense	probably benign	0.00
R8234:Atrn	UTSW	2	131,023,000 (GRCm38)	critical splice acceptor site	probably null
R8462:Atrn	UTSW	2	130,935,584 (GRCm38)	missense	probably damaging	1.00
R8816:Atrn	UTSW	2	131,004,574 (GRCm38)	missense	probably damaging	1.00
R8816:Atrn	UTSW	2	130,906,878 (GRCm38)	missense	probably damaging	1.00
R8831:Atrn	UTSW	2	130,906,601 (GRCm38)	missense	probably benign	0.22
R8937:Atrn	UTSW	2	130,999,237 (GRCm38)	missense	probably benign	0.00
R9161:Atrn	UTSW	2	130,935,550 (GRCm38)	missense	probably damaging	1.00
R9722:Atrn	UTSW	2	130,961,616 (GRCm38)	missense	probably damaging	1.00
R9786:Atrn	UTSW	2	130,944,889 (GRCm38)	missense	probably damaging	1.00
RF009:Atrn	UTSW	2	130,906,922 (GRCm38)	missense	probably benign	0.12
X0024:Atrn	UTSW	2	130,958,139 (GRCm38)	missense	probably damaging	1.00
Z1088:Atrn	UTSW	2	130,973,399 (GRCm38)	missense	probably benign
Z1176:Atrn	UTSW	2	130,946,193 (GRCm38)	missense	probably benign	0.27
Z1177:Atrn	UTSW	2	130,946,042 (GRCm38)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGAACATGTAAGTTGGCCATTAGTG -3'
(R):5'- TACTTTTGTCCAGGATGACCAAG -3'

Sequencing Primer
(F):5'- GGACCACACATCTGTATTTCTTATTC -3'
(R):5'- CAGGAGTAGCCACAAAGT -3'

Posted On

2015-09-24