Mutagenetix > Incidental Mutation

Incidental Mutation 'R7587:Atrn'

587191

Institutional Source

Beutler Lab

Gene Symbol

Atrn

Ensembl Gene

ENSMUSG00000027312

Gene Name

attractin

Synonyms

Mgca

MMRRC Submission

045712-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7587 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

130748415-130872253 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 130822034 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 909 (I909N)

Ref Sequence

ENSEMBL: ENSMUSP00000028781 (fasta)

Gene Model

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

AlphaFold

Q9WU60

Predicted Effect

probably damaging
Transcript: ENSMUST00000028781
AA Change: I909N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000028781
Gene: ENSMUSG00000027312
AA Change: I909N

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (63/63)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	T	C	3: 116,585,736 (GRCm39)	T131A	probably damaging	Het
Asah1	A	T	8: 41,827,578 (GRCm39)	V15D	probably benign	Het
Asic1	A	C	15: 99,593,471 (GRCm39)	Q276P	probably damaging	Het
Atl2	A	T	17: 80,172,496 (GRCm39)	V158E	probably benign	Het
BC034090	A	G	1: 155,093,232 (GRCm39)	V742A	probably damaging	Het
Capzb	T	A	4: 138,989,334 (GRCm39)	D85E	possibly damaging	Het
Cdh20	T	C	1: 104,869,004 (GRCm39)	F165S	probably damaging	Het
Cfap44	A	G	16: 44,224,469 (GRCm39)	E59G	probably benign	Het
Clpsl2	G	A	17: 28,768,515 (GRCm39)	V10I	probably benign	Het
D630003M21Rik	T	A	2: 158,042,976 (GRCm39)	S855C	probably damaging	Het
D630003M21Rik	T	C	2: 158,038,308 (GRCm39)	Y1046C	probably benign	Het
D6Wsu163e	A	G	6: 126,932,859 (GRCm39)	I361V	probably benign	Het
Dchs2	A	G	3: 83,211,822 (GRCm39)	I1874V	probably benign	Het
Dennd2a	T	G	6: 39,460,069 (GRCm39)	K679Q	probably damaging	Het
Dio2	A	G	12: 90,696,334 (GRCm39)	V218A	probably benign	Het
Gpr107	A	T	2: 31,058,838 (GRCm39)	K109N	probably benign	Het
Gpr108	C	T	17: 57,543,732 (GRCm39)	R448Q	probably damaging	Het
Gucy2c	A	G	6: 136,681,288 (GRCm39)	V932A	probably damaging	Het
Kcnj8	T	C	6: 142,512,065 (GRCm39)	T181A	probably damaging	Het
Kdm3b	A	G	18: 34,930,080 (GRCm39)		probably null	Het
Lipc	A	G	9: 70,726,206 (GRCm39)	Y168H	probably damaging	Het
Lipi	C	T	16: 75,347,103 (GRCm39)	V439M	probably benign	Het
Lpp	A	T	16: 24,581,029 (GRCm39)		probably null	Het
Lrp1b	T	G	2: 40,620,729 (GRCm39)	D3583A		Het
Ltbr	T	C	6: 125,289,315 (GRCm39)	T165A	probably benign	Het
Mroh3	A	G	1: 136,118,736 (GRCm39)	I527T	probably benign	Het
Mylk	A	G	16: 34,742,887 (GRCm39)	E1133G	probably benign	Het
Nat3	T	C	8: 68,000,226 (GRCm39)	I35T	probably damaging	Het
Ncbp3	T	C	11: 72,957,591 (GRCm39)		probably null	Het
Nedd1	G	A	10: 92,534,592 (GRCm39)	T306M	probably benign	Het
Nexn	T	C	3: 151,952,815 (GRCm39)	R316G	probably benign	Het
Nox4	A	G	7: 86,966,510 (GRCm39)	H207R	probably damaging	Het
Nsun6	T	C	2: 15,044,636 (GRCm39)	Q110R	probably benign	Het
Or1e1b-ps1	C	T	11: 73,846,010 (GRCm39)	Q165*	probably null	Het
Or52n2c	C	T	7: 104,574,263 (GRCm39)	R236H	probably benign	Het
Or7g32	T	A	9: 19,408,818 (GRCm39)	V258E	probably damaging	Het
Pappa2	T	C	1: 158,678,701 (GRCm39)	D905G	probably damaging	Het
Pepd	T	C	7: 34,668,965 (GRCm39)	L195S	probably damaging	Het
Pms1	A	G	1: 53,246,475 (GRCm39)	S355P	probably benign	Het
Pop1	A	T	15: 34,502,559 (GRCm39)	K82M	probably damaging	Het
Ppp1r9b	T	A	11: 94,892,766 (GRCm39)	D655E	possibly damaging	Het
Ppt2	A	G	17: 34,845,777 (GRCm39)		probably null	Het
Pramel57	A	G	5: 95,669,270 (GRCm39)	T100A	probably damaging	Het
Prss35	T	A	9: 86,637,427 (GRCm39)	C66S	probably damaging	Het
Rfc3	A	T	5: 151,574,616 (GRCm39)	M1K	probably null	Het
Rffl	T	C	11: 82,700,974 (GRCm39)	D284G	probably damaging	Het
Robo3	T	C	9: 37,340,942 (GRCm39)	D110G	probably damaging	Het
Rtel1	G	A	2: 180,964,108 (GRCm39)	V36M	probably damaging	Het
Slc1a7	T	A	4: 107,867,683 (GRCm39)	I457K	possibly damaging	Het
Smco1	A	G	16: 32,092,541 (GRCm39)	M71V	probably benign	Het
Snrnp200	G	A	2: 127,069,822 (GRCm39)	S989N	probably damaging	Het
Spef2	T	A	15: 9,713,305 (GRCm39)	I356F	probably damaging	Het
Stk24	C	T	14: 121,539,699 (GRCm39)	A166T	probably damaging	Het
Tada2b	T	C	5: 36,634,111 (GRCm39)	I156V	probably benign	Het
Tasor2	T	C	13: 3,618,849 (GRCm39)	K2251E	possibly damaging	Het
Tbce	C	T	13: 14,194,327 (GRCm39)	V111M	probably damaging	Het
Tlnrd1	A	G	7: 83,532,155 (GRCm39)	L92P	probably damaging	Het
Tnr	T	A	1: 159,713,778 (GRCm39)	D735E	probably benign	Het
Tram1	T	C	1: 13,649,771 (GRCm39)	H110R	probably damaging	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Unc5b	C	T	10: 60,618,899 (GRCm39)	C81Y	probably damaging	Het
Vps13a	G	A	19: 16,681,153 (GRCm39)	T1041M	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
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
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'- AAGCTCACTCTGACTCCATGG -3'
(R):5'- GCTTAAAGCAGTCAGAGGCC -3'

Sequencing Primer
(F):5'- ACTCTGACTCCATGGGTTGGTC -3'
(R):5'- AAGACTATCTGGAATCGGGTTC -3'

Posted On

2019-10-24