Mutagenetix > Incidental Mutation

Incidental Mutation 'R1219:Atrn'

99887

Institutional Source

Beutler Lab

Gene Symbol

Atrn

Ensembl Gene

ENSMUSG00000027312

Gene Name

attractin

Synonyms

Mgca

MMRRC Submission

039288-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1219 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130748415-130872253 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 130862927 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 1336 (T1336S)

Ref Sequence

ENSEMBL: ENSMUSP00000028781 (fasta)

Gene Model

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

AlphaFold

Q9WU60

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028781
AA Change: T1336S

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000028781
Gene: ENSMUSG00000027312
AA Change: T1336S

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

Meta Mutation Damage Score

0.0808

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

98% (44/45)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atad2	A	G	15: 57,998,307 (GRCm39)	S22P	probably benign	Het
Bltp1	T	A	3: 37,000,619 (GRCm39)	L1266*	probably null	Het
Car9	G	T	4: 43,512,439 (GRCm39)		probably null	Het
Ccdc113	T	C	8: 96,264,895 (GRCm39)		probably benign	Het
Ccdc158	A	G	5: 92,802,040 (GRCm39)		probably benign	Het
Ciao3	T	C	17: 25,994,075 (GRCm39)	I41T	probably damaging	Het
Dcun1d3	G	T	7: 119,458,631 (GRCm39)	Q135K	probably damaging	Het
Dnah7b	A	C	1: 46,379,280 (GRCm39)	E3671D	probably benign	Het
Eea1	A	G	10: 95,846,623 (GRCm39)		probably benign	Het
Entrep3	T	C	3: 89,091,155 (GRCm39)	V42A	probably damaging	Het
Gdf10	G	A	14: 33,654,710 (GRCm39)	A406T	probably benign	Het
Gm5111	A	G	6: 48,567,328 (GRCm39)		probably benign	Het
Golga3	G	T	5: 110,332,215 (GRCm39)	E50*	probably null	Het
Junb	T	C	8: 85,704,268 (GRCm39)	E264G	probably damaging	Het
Kash5	A	G	7: 44,838,832 (GRCm39)		probably benign	Het
Kifc1	G	A	17: 34,103,685 (GRCm39)	R195C	probably benign	Het
Krt18	T	C	15: 101,939,723 (GRCm39)		probably benign	Het
Man1a	G	A	10: 53,795,249 (GRCm39)		probably benign	Het
Mapkbp1	G	T	2: 119,849,831 (GRCm39)	G768*	probably null	Het
Mybpc2	A	C	7: 44,165,458 (GRCm39)		probably null	Het
Nectin3	A	T	16: 46,275,042 (GRCm39)	C238*	probably null	Het
Ntf3	G	T	6: 126,079,174 (GRCm39)	R98S	possibly damaging	Het
Nup153	T	G	13: 46,840,695 (GRCm39)	Q971P	probably benign	Het
Nup155	A	G	15: 8,146,822 (GRCm39)	T221A	possibly damaging	Het
Ppp2r1b	T	C	9: 50,778,621 (GRCm39)		probably benign	Het
Prkd1	A	T	12: 50,435,125 (GRCm39)	V534E	probably damaging	Het
Rabep2	A	G	7: 126,028,799 (GRCm39)	E26G	probably damaging	Het
Rnf213	C	A	11: 119,327,003 (GRCm39)	N1663K	probably damaging	Het
Slc1a1	G	A	19: 28,882,146 (GRCm39)		probably benign	Het
Slc36a4	T	C	9: 15,634,832 (GRCm39)	Y125H	probably damaging	Het
Slc6a11	G	A	6: 114,202,772 (GRCm39)		probably benign	Het
Stab1	C	T	14: 30,862,578 (GRCm39)		probably null	Het
Sumf2	G	T	5: 129,883,613 (GRCm39)	A164S	probably benign	Het
Sv2b	T	C	7: 74,786,160 (GRCm39)	D420G	probably benign	Het
Ube2v1	T	C	2: 167,459,831 (GRCm39)	D56G	probably benign	Het
Ung	A	G	5: 114,270,228 (GRCm39)		probably benign	Het
Vcan	T	C	13: 89,828,023 (GRCm39)	Y2181C	probably damaging	Het
Vmn1r238	G	A	18: 3,123,135 (GRCm39)	T93I	possibly damaging	Het
Vmn2r14	A	C	5: 109,372,440 (GRCm39)	S17A	probably benign	Het
Vmn2r25	A	G	6: 123,816,282 (GRCm39)	V433A	probably benign	Het
Zfp36l2	A	G	17: 84,495,070 (GRCm39)		probably null	Het
Zfp646	G	A	7: 127,482,292 (GRCm39)	G1490S	probably benign	Het
Zfp839	A	G	12: 110,834,707 (GRCm39)	D654G	possibly damaging	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
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
R5066:Atrn	UTSW	2	130,836,113 (GRCm39)	missense	possibly damaging	0.60
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'- CGAGGAGAGTTGTCTCCCATCCTATC -3'
(R):5'- TCGGGGTTGCTTCTGCTGACTAAC -3'

Sequencing Primer
(F):5'- acctagcaccttgtcatgtc -3'
(R):5'- CTTCTGCTGACTAACTGTTAGAGAG -3'

Posted On

2014-01-15