Mutagenetix > Incidental Mutation

Incidental Mutation 'R5066:Atrn'

388312

Institutional Source

Beutler Lab

Gene Symbol

Atrn

Ensembl Gene

ENSMUSG00000027312

Gene Name

attractin

Synonyms

Mgca

MMRRC Submission

042656-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5066 (G1)

Quality Score

200

Status

Validated

Chromosome

Chromosomal Location

130748415-130872253 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 130836113 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1131 (V1131A)

Ref Sequence

ENSEMBL: ENSMUSP00000028781 (fasta)

Gene Model

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

AlphaFold

Q9WU60

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028781
AA Change: V1131A

PolyPhen 2 Score 0.604 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000028781
Gene: ENSMUSG00000027312
AA Change: V1131A

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

Meta Mutation Damage Score

0.0943

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.4%

Validation Efficiency

100% (45/45)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930544D05Rik	A	T	11: 70,507,417 (GRCm39)	Y154F	probably benign	Het
Abca5	A	T	11: 110,200,176 (GRCm39)		probably benign	Het
Agtpbp1	T	A	13: 59,622,364 (GRCm39)	D11V	probably damaging	Het
Aldh1a2	G	A	9: 71,188,982 (GRCm39)	A299T	possibly damaging	Het
Apc	T	A	18: 34,449,158 (GRCm39)	V1984D	probably damaging	Het
Asxl3	C	G	18: 22,658,356 (GRCm39)	A2122G	possibly damaging	Het
Atp13a2	G	A	4: 140,732,449 (GRCm39)	V905M	probably damaging	Het
Atp1a1	C	T	3: 101,489,420 (GRCm39)	G731R	probably damaging	Het
Bcl2l13	T	A	6: 120,863,982 (GRCm39)	V312E	possibly damaging	Het
Chic2	A	G	5: 75,187,817 (GRCm39)	V81A	possibly damaging	Het
Drg1	A	T	11: 3,209,353 (GRCm39)	I122N	possibly damaging	Het
Efcab3	A	G	11: 104,611,490 (GRCm39)	D444G	probably benign	Het
Flt4	A	G	11: 49,524,990 (GRCm39)	N612S	possibly damaging	Het
Hadhb	T	C	5: 30,369,094 (GRCm39)		probably benign	Het
Heg1	G	T	16: 33,559,041 (GRCm39)	R856S	probably benign	Het
Ice2	A	C	9: 69,315,573 (GRCm39)	N143T	probably benign	Het
Igkv8-21	G	A	6: 70,292,427 (GRCm39)	Q4*	probably null	Het
Lrfn2	T	C	17: 49,403,448 (GRCm39)	S524P	probably damaging	Het
Mndal	C	A	1: 173,703,229 (GRCm39)	A59S	probably damaging	Het
Mpp7	T	C	18: 7,513,002 (GRCm39)	E33G	possibly damaging	Het
Msantd5l	A	G	11: 51,145,251 (GRCm39)	F112S	probably damaging	Het
Nedd4	T	A	9: 72,617,801 (GRCm39)	D187E	probably damaging	Het
Nfx1	A	G	4: 40,991,868 (GRCm39)	I519V	probably benign	Het
Or10p22	G	A	10: 128,826,660 (GRCm39)	R293Q	probably damaging	Het
Or6c204	T	C	10: 129,022,433 (GRCm39)	I286V	possibly damaging	Het
Padi1	T	C	4: 140,556,748 (GRCm39)	N153S	probably damaging	Het
Parp10	A	G	15: 76,125,146 (GRCm39)		probably benign	Het
Setbp1	A	T	18: 78,900,514 (GRCm39)	M1051K	probably damaging	Het
Slc2a7	T	A	4: 150,244,573 (GRCm39)	M347K	probably damaging	Het
Slc45a2	C	A	15: 11,012,693 (GRCm39)	T232K	probably benign	Het
Snd1	C	A	6: 28,888,239 (GRCm39)	N891K	probably damaging	Het
Spata13	T	C	14: 60,987,538 (GRCm39)	Y899H	possibly damaging	Het
Sult1c2	T	A	17: 54,281,026 (GRCm39)	I26F	probably damaging	Het
Sybu	A	G	15: 44,541,040 (GRCm39)	C341R	probably damaging	Het
Syk	T	A	13: 52,796,018 (GRCm39)	S538T	possibly damaging	Het
Syne2	A	G	12: 76,013,325 (GRCm39)	T2840A	probably benign	Het
Thsd4	A	G	9: 59,883,615 (GRCm39)	C924R	probably damaging	Het
Tle1	A	G	4: 72,076,504 (GRCm39)	S175P	probably benign	Het
Tmbim4	C	T	10: 120,053,537 (GRCm39)	T112M	probably benign	Het
Tmprss11a	A	G	5: 86,567,859 (GRCm39)		probably null	Het
Tnc	C	A	4: 63,893,466 (GRCm39)	D1698Y	probably damaging	Het
Ypel1	A	G	16: 16,927,539 (GRCm39)	Y18H	probably benign	Het

Other mutations in Atrn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00337:Atrn	APN	2	130,799,999 (GRCm39)	missense	probably damaging	1.00
IGL00571:Atrn	APN	2	130,836,968 (GRCm39)	missense	probably damaging	1.00
IGL01092:Atrn	APN	2	130,789,556 (GRCm39)	nonsense	probably null
IGL01572:Atrn	APN	2	130,844,715 (GRCm39)	missense	probably damaging	1.00
IGL01924:Atrn	APN	2	130,777,485 (GRCm39)	missense	probably damaging	1.00
IGL02116:Atrn	APN	2	130,800,009 (GRCm39)	missense	probably damaging	1.00
IGL02372:Atrn	APN	2	130,844,674 (GRCm39)	splice site	probably benign
IGL02390:Atrn	APN	2	130,862,897 (GRCm39)	missense	possibly damaging	0.82
IGL02548:Atrn	APN	2	130,814,202 (GRCm39)	missense	probably damaging	1.00
IGL02749:Atrn	APN	2	130,789,654 (GRCm39)	splice site	probably benign
IGL02749:Atrn	APN	2	130,812,064 (GRCm39)	nonsense	probably null
BB010:Atrn	UTSW	2	130,836,986 (GRCm39)	missense	probably damaging	1.00
BB020:Atrn	UTSW	2	130,836,986 (GRCm39)	missense	probably damaging	1.00
R0026:Atrn	UTSW	2	130,799,840 (GRCm39)	missense	probably damaging	1.00
R0403:Atrn	UTSW	2	130,748,779 (GRCm39)	missense	probably damaging	1.00
R0479:Atrn	UTSW	2	130,841,085 (GRCm39)	nonsense	probably null
R0544:Atrn	UTSW	2	130,828,746 (GRCm39)	missense	probably damaging	1.00
R0570:Atrn	UTSW	2	130,822,054 (GRCm39)	missense	probably benign	0.01
R0606:Atrn	UTSW	2	130,748,776 (GRCm39)	missense	possibly damaging	0.90
R0617:Atrn	UTSW	2	130,837,005 (GRCm39)	critical splice donor site	probably null
R0658:Atrn	UTSW	2	130,812,147 (GRCm39)	critical splice donor site	probably null
R1108:Atrn	UTSW	2	130,799,834 (GRCm39)	missense	probably damaging	1.00
R1112:Atrn	UTSW	2	130,841,081 (GRCm39)	missense	probably benign	0.04
R1219:Atrn	UTSW	2	130,862,927 (GRCm39)	missense	possibly damaging	0.90
R1422:Atrn	UTSW	2	130,799,834 (GRCm39)	missense	probably damaging	1.00
R1524:Atrn	UTSW	2	130,799,000 (GRCm39)	missense	probably benign	0.15
R1653:Atrn	UTSW	2	130,777,544 (GRCm39)	missense	probably benign
R1795:Atrn	UTSW	2	130,814,208 (GRCm39)	missense	probably benign
R1807:Atrn	UTSW	2	130,824,692 (GRCm39)	missense	possibly damaging	0.94
R1920:Atrn	UTSW	2	130,836,971 (GRCm39)	missense	probably damaging	1.00
R1921:Atrn	UTSW	2	130,836,971 (GRCm39)	missense	probably damaging	1.00
R1935:Atrn	UTSW	2	130,799,955 (GRCm39)	missense	probably damaging	1.00
R1982:Atrn	UTSW	2	130,812,142 (GRCm39)	missense	probably benign
R2000:Atrn	UTSW	2	130,777,508 (GRCm39)	missense	probably damaging	1.00
R2143:Atrn	UTSW	2	130,799,916 (GRCm39)	missense	probably benign	0.03
R2336:Atrn	UTSW	2	130,799,874 (GRCm39)	missense	probably damaging	1.00
R2679:Atrn	UTSW	2	130,803,595 (GRCm39)	critical splice donor site	probably null
R3426:Atrn	UTSW	2	130,862,876 (GRCm39)	missense	probably benign	0.06
R3909:Atrn	UTSW	2	130,836,127 (GRCm39)	missense	probably damaging	1.00
R4077:Atrn	UTSW	2	130,806,850 (GRCm39)	critical splice donor site	probably null
R4162:Atrn	UTSW	2	130,836,148 (GRCm39)	splice site	probably benign
R4195:Atrn	UTSW	2	130,775,332 (GRCm39)	missense	probably damaging	1.00
R4364:Atrn	UTSW	2	130,812,128 (GRCm39)	missense	probably benign	0.39
R4465:Atrn	UTSW	2	130,802,388 (GRCm39)	missense	probably benign	0.08
R4510:Atrn	UTSW	2	130,777,497 (GRCm39)	nonsense	probably null
R4511:Atrn	UTSW	2	130,777,497 (GRCm39)	nonsense	probably null
R4527:Atrn	UTSW	2	130,815,424 (GRCm39)	missense	probably benign	0.10
R4586:Atrn	UTSW	2	130,823,962 (GRCm39)	missense	probably damaging	1.00
R4592:Atrn	UTSW	2	130,841,050 (GRCm39)	intron	probably benign
R4658:Atrn	UTSW	2	130,775,349 (GRCm39)	missense	probably damaging	1.00
R4735:Atrn	UTSW	2	130,862,910 (GRCm39)	missense	probably benign	0.06
R4960:Atrn	UTSW	2	130,836,967 (GRCm39)	nonsense	probably null
R4999:Atrn	UTSW	2	130,817,874 (GRCm39)	missense	probably damaging	1.00
R5080:Atrn	UTSW	2	130,812,044 (GRCm39)	missense	possibly damaging	0.95
R5141:Atrn	UTSW	2	130,841,050 (GRCm39)	intron	probably benign
R5256:Atrn	UTSW	2	130,787,939 (GRCm39)	missense	probably benign	0.39
R5494:Atrn	UTSW	2	130,864,995 (GRCm39)	missense	probably damaging	1.00
R5678:Atrn	UTSW	2	130,811,936 (GRCm39)	missense	probably damaging	0.96
R5752:Atrn	UTSW	2	130,748,464 (GRCm39)	unclassified	probably benign
R5931:Atrn	UTSW	2	130,775,356 (GRCm39)	missense	possibly damaging	0.56
R6023:Atrn	UTSW	2	130,862,900 (GRCm39)	missense	probably benign	0.25
R6176:Atrn	UTSW	2	130,788,011 (GRCm39)	missense	probably benign	0.31
R6377:Atrn	UTSW	2	130,821,889 (GRCm39)	missense	probably damaging	1.00
R6433:Atrn	UTSW	2	130,864,947 (GRCm39)	missense	probably damaging	1.00
R7226:Atrn	UTSW	2	130,828,664 (GRCm39)	missense	probably damaging	0.99
R7402:Atrn	UTSW	2	130,789,520 (GRCm39)	missense	probably damaging	1.00
R7541:Atrn	UTSW	2	130,803,491 (GRCm39)	missense	possibly damaging	0.46
R7587:Atrn	UTSW	2	130,822,034 (GRCm39)	missense	probably damaging	1.00
R7872:Atrn	UTSW	2	130,812,147 (GRCm39)	critical splice donor site	probably null
R7910:Atrn	UTSW	2	130,806,807 (GRCm39)	missense	probably benign	0.04
R7913:Atrn	UTSW	2	130,812,131 (GRCm39)	missense	probably damaging	1.00
R7933:Atrn	UTSW	2	130,836,986 (GRCm39)	missense	probably damaging	1.00
R8044:Atrn	UTSW	2	130,777,449 (GRCm39)	missense	probably damaging	1.00
R8079:Atrn	UTSW	2	130,855,561 (GRCm39)	missense	probably null	1.00
R8093:Atrn	UTSW	2	130,817,908 (GRCm39)	missense	probably benign	0.00
R8203:Atrn	UTSW	2	130,802,469 (GRCm39)	missense	probably benign	0.00
R8234:Atrn	UTSW	2	130,864,920 (GRCm39)	critical splice acceptor site	probably null
R8462:Atrn	UTSW	2	130,777,504 (GRCm39)	missense	probably damaging	1.00
R8816:Atrn	UTSW	2	130,846,494 (GRCm39)	missense	probably damaging	1.00
R8816:Atrn	UTSW	2	130,748,798 (GRCm39)	missense	probably damaging	1.00
R8831:Atrn	UTSW	2	130,748,521 (GRCm39)	missense	probably benign	0.22
R8937:Atrn	UTSW	2	130,841,157 (GRCm39)	missense	probably benign	0.00
R9161:Atrn	UTSW	2	130,777,470 (GRCm39)	missense	probably damaging	1.00
R9722:Atrn	UTSW	2	130,803,536 (GRCm39)	missense	probably damaging	1.00
R9786:Atrn	UTSW	2	130,786,809 (GRCm39)	missense	probably damaging	1.00
RF009:Atrn	UTSW	2	130,748,842 (GRCm39)	missense	probably benign	0.12
X0024:Atrn	UTSW	2	130,800,059 (GRCm39)	missense	probably damaging	1.00
Z1088:Atrn	UTSW	2	130,815,319 (GRCm39)	missense	probably benign
Z1176:Atrn	UTSW	2	130,788,113 (GRCm39)	missense	probably benign	0.27
Z1177:Atrn	UTSW	2	130,787,962 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCTTTACTACAAACCCATTTCAGGC -3'
(R):5'- TGCTAGGTACTACTCATAAGGAACAAC -3'

Sequencing Primer
(F):5'- CCCATTTCAGGCTAAATGATTTTGTC -3'
(R):5'- TGCCCTGGAACTCAATGTAG -3'

Posted On

2016-06-06