Mutagenetix > Incidental Mutation

Incidental Mutation 'R7541:Atrn'

583875

Institutional Source

Beutler Lab

Gene Symbol

Atrn

Ensembl Gene

ENSMUSG00000027312

Gene Name

attractin

Synonyms

Mgca

MMRRC Submission

045613-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7541 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

130748415-130872253 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 130803491 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 560 (I560M)

Ref Sequence

ENSEMBL: ENSMUSP00000028781 (fasta)

Gene Model

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

AlphaFold

Q9WU60

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028781
AA Change: I560M

PolyPhen 2 Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000028781
Gene: ENSMUSG00000027312
AA Change: I560M

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

0.1053

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

96% (51/53)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	G	A	2: 155,416,610 (GRCm39)		probably null	Het
Adamts10	G	A	17: 33,750,590 (GRCm39)	R210H	probably benign	Het
Als2	T	C	1: 59,206,775 (GRCm39)		probably null	Het
Aplp2	A	T	9: 31,063,652 (GRCm39)	M652K	possibly damaging	Het
Bicc1	T	C	10: 70,782,434 (GRCm39)	D602G	possibly damaging	Het
Bnip5	G	A	17: 29,124,298 (GRCm39)	R335W	probably damaging	Het
Cd200l2	T	A	16: 45,348,855 (GRCm39)	T106S	possibly damaging	Het
Cdh4	A	G	2: 179,086,603 (GRCm39)		probably null	Het
Clasp1	T	A	1: 118,470,727 (GRCm39)		probably null	Het
Col6a6	A	G	9: 105,644,523 (GRCm39)	I1255T	probably damaging	Het
Comp	G	T	8: 70,834,000 (GRCm39)	V672L	probably damaging	Het
Dbnl	T	G	11: 5,745,486 (GRCm39)	D122E	probably damaging	Het
Dgkz	G	A	2: 91,773,020 (GRCm39)	R346C	probably damaging	Het
Dnhd1	C	T	7: 105,327,516 (GRCm39)	R54C	probably damaging	Het
Elmo3	T	C	8: 106,033,346 (GRCm39)	I121T	probably damaging	Het
Fam184b	A	G	5: 45,699,574 (GRCm39)	L614P	probably damaging	Het
Fbh1	T	C	2: 11,754,348 (GRCm39)	R797G	probably benign	Het
Fcgbpl1	T	A	7: 27,843,681 (GRCm39)	C856*	probably null	Het
Gata6	A	G	18: 11,059,108 (GRCm39)	T392A	probably damaging	Het
Gm29609	A	G	5: 31,311,576 (GRCm39)	F855S	probably benign	Het
Gm3424	T	C	14: 17,337,195 (GRCm39)	N88D	possibly damaging	Het
Gnas	T	A	2: 174,139,892 (GRCm39)	S80T	unknown	Het
Hsd17b14	C	A	7: 45,215,570 (GRCm39)	P190Q	probably damaging	Het
Iqch	C	T	9: 63,352,803 (GRCm39)	V955I	possibly damaging	Het
Kcnt2	T	C	1: 140,304,122 (GRCm39)	V164A	probably benign	Het
Krt87	A	G	15: 101,336,515 (GRCm39)	L46P	probably damaging	Het
Lef1	A	G	3: 130,984,748 (GRCm39)	M237V	probably benign	Het
Lmbr1l	A	T	15: 98,807,267 (GRCm39)		probably null	Het
Lrrc49	T	C	9: 60,517,686 (GRCm39)	I408V	probably damaging	Het
Luc7l3	T	C	11: 94,186,791 (GRCm39)	S365G	unknown	Het
Marchf2	A	T	17: 33,922,032 (GRCm39)	C109*	probably null	Het
Metrnl	T	A	11: 121,606,796 (GRCm39)	C284S	probably damaging	Het
Mmachc	G	A	4: 116,563,082 (GRCm39)	T91I	probably benign	Het
Mrps7	T	G	11: 115,497,696 (GRCm39)	M187R	probably damaging	Het
Ncapd3	A	G	9: 26,978,336 (GRCm39)	E845G	probably damaging	Het
Nscme3l	G	A	19: 5,553,439 (GRCm39)	P114L	probably benign	Het
Ooep	T	A	9: 78,285,347 (GRCm39)	T90S	possibly damaging	Het
Or13c25	A	T	4: 52,911,376 (GRCm39)	D139E	probably benign	Het
Or2y1g	T	A	11: 49,171,160 (GRCm39)	F62I	probably damaging	Het
Pcdhb18	A	T	18: 37,624,662 (GRCm39)	D664V	probably damaging	Het
Pigz	T	C	16: 31,763,949 (GRCm39)	S336P	probably benign	Het
Pou2f2	A	T	7: 24,815,553 (GRCm39)	D71E	probably benign	Het
Reep6	G	T	10: 80,171,033 (GRCm39)	R303L	possibly damaging	Het
Rmdn2	A	T	17: 79,935,297 (GRCm39)	S137C		Het
Rnf220	A	T	4: 117,347,127 (GRCm39)	L95H	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,118 (GRCm39)		probably benign	Het
Stxbp1	A	T	2: 32,708,517 (GRCm39)	S83T	probably damaging	Het
Tcstv7b	A	T	13: 120,702,515 (GRCm39)	M104L	probably benign	Het
Trappc11	T	C	8: 47,958,617 (GRCm39)		probably null	Het
Ttn	G	T	2: 76,621,645 (GRCm39)	D15598E	probably damaging	Het
Vav2	T	A	2: 27,165,014 (GRCm39)	R645W	probably damaging	Het
Vmn1r169	T	A	7: 23,277,412 (GRCm39)	V268D	probably benign	Het
Zp2	A	T	7: 119,735,279 (GRCm39)	C365S	probably 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
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
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
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'- TTAAAGGAAGTGGCTTACGTATAGG -3'
(R):5'- TACCACCTGGACTTCTTTTAAATGG -3'

Sequencing Primer
(F):5'- GGGGAAATCAAGTATTGCACATTTG -3'
(R):5'- CATAGTGATCTTTCCATCAGC -3'

Posted On

2019-10-17