Mutagenetix > Incidental Mutation

Incidental Mutation 'R5080:Atrn'

387065

Institutional Source

Beutler Lab

Gene Symbol

Atrn

Ensembl Gene

ENSMUSG00000027312

Gene Name

attractin

Synonyms

Mgca

MMRRC Submission

042669-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5080 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130748415-130872253 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 130812044 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 663 (I663N)

Ref Sequence

ENSEMBL: ENSMUSP00000028781 (fasta)

Gene Model

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

AlphaFold

Q9WU60

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028781
AA Change: I663N

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000028781
Gene: ENSMUSG00000027312
AA Change: I663N

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: ENSMUST00000134964

Meta Mutation Damage Score

0.3028

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.4%
20x: 92.5%

Validation Efficiency

96% (54/56)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acod1	G	A	14: 103,286,744 (GRCm39)	G16S	possibly damaging	Het
Adcy4	A	T	14: 56,009,832 (GRCm39)	M740K	probably damaging	Het
Atp1a2	T	C	1: 172,112,012 (GRCm39)		probably benign	Het
Cacna2d1	T	C	5: 16,567,394 (GRCm39)		probably null	Het
Carf	C	A	1: 60,189,772 (GRCm39)	Q631K	probably damaging	Het
Ces1d	T	C	8: 93,908,175 (GRCm39)	D306G	probably benign	Het
Corin	T	A	5: 72,511,194 (GRCm39)		probably benign	Het
Csf1r	T	C	18: 61,257,373 (GRCm39)	F575L	probably damaging	Het
Dcaf6	T	C	1: 165,247,690 (GRCm39)	D181G	probably damaging	Het
Dnah11	C	T	12: 118,162,565 (GRCm39)	M1I	probably null	Het
Dnah7b	C	T	1: 46,221,540 (GRCm39)	R1215*	probably null	Het
Dpp3	T	A	19: 4,965,108 (GRCm39)	D464V	probably benign	Het
Drosha	C	A	15: 12,842,229 (GRCm39)	A344D	probably benign	Het
Fat3	G	T	9: 15,910,634 (GRCm39)	S1789R	probably benign	Het
Fhip2a	A	T	19: 57,361,713 (GRCm39)	K134I	probably damaging	Het
Frg2f1	T	C	4: 119,388,230 (GRCm39)	T90A	possibly damaging	Het
Frrs1	T	C	3: 116,696,585 (GRCm39)	I544T	probably benign	Het
Gm20939	T	C	17: 95,184,419 (GRCm39)	C356R	probably damaging	Het
Ifi206	T	A	1: 173,301,414 (GRCm39)	I755F	possibly damaging	Het
Kntc1	T	A	5: 123,900,649 (GRCm39)	V249E	possibly damaging	Het
Lama5	A	T	2: 179,848,993 (GRCm39)	L230*	probably null	Het
Lce1e	C	T	3: 92,615,137 (GRCm39)	C70Y	unknown	Het
Ltbp2	T	C	12: 84,850,638 (GRCm39)	N892S	probably damaging	Het
Mfsd4b5	T	A	10: 39,846,570 (GRCm39)	M337L	probably damaging	Het
Noxo1	T	A	17: 24,918,331 (GRCm39)	C164S	probably damaging	Het
Or2y1b	G	T	11: 49,208,914 (GRCm39)	M180I	probably benign	Het
Or5j3	G	A	2: 86,128,258 (GRCm39)	V33M	probably benign	Het
Osbpl6	T	C	2: 76,354,429 (GRCm39)	S15P	probably benign	Het
Pcdh17	A	G	14: 84,770,750 (GRCm39)	Y1076C	probably benign	Het
Pik3c2a	T	A	7: 115,947,509 (GRCm39)	H1391L	probably damaging	Het
Plcg2	A	G	8: 118,316,742 (GRCm39)	Y573C	probably benign	Het
Prpf3	T	A	3: 95,741,109 (GRCm39)	H600L	probably benign	Het
Rilpl2	T	C	5: 124,607,876 (GRCm39)	T115A	probably benign	Het
Rpl15-ps6	A	G	15: 52,341,446 (GRCm39)		noncoding transcript	Het
Serpini1	T	C	3: 75,523,967 (GRCm39)	S192P	probably damaging	Het
Sp110	G	T	1: 85,523,776 (GRCm39)	Y18*	probably null	Het
Stard6	A	T	18: 70,629,293 (GRCm39)	I126F	probably damaging	Het
Strip2	T	A	6: 29,945,592 (GRCm39)	L660H	probably damaging	Het
Tmed3	G	A	9: 89,581,825 (GRCm39)	R213*	probably null	Het
Tns1	G	T	1: 73,992,099 (GRCm39)	P860T	probably damaging	Het
Togaram1	T	C	12: 65,030,177 (GRCm39)	S994P	probably benign	Het
Tomm34	G	A	2: 163,912,816 (GRCm39)		probably benign	Het
Trank1	G	A	9: 111,218,289 (GRCm39)	E1890K	probably damaging	Het
Wasf3	C	T	5: 146,397,907 (GRCm39)	H225Y	probably benign	Het
Wdr37	A	T	13: 8,897,710 (GRCm39)		probably null	Het
Zbtb7c	A	C	18: 76,270,413 (GRCm39)	D167A	probably benign	Het
Zkscan4	A	G	13: 21,665,498 (GRCm39)	T158A	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
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'- TACGTCGTGCCTCTGAGTTC -3'
(R):5'- CTGCTAACAGCTTCCAGGAG -3'

Sequencing Primer
(F):5'- GTGCCTCTGAGTTCTCAGTAAATTC -3'
(R):5'- AGCTTCCAGGAGCCACATG -3'

Posted On

2016-06-06