Mutagenetix > Incidental Mutation

Incidental Mutation 'R5256:Atrn'

399587

Institutional Source

Beutler Lab

Gene Symbol

Atrn

Ensembl Gene

ENSMUSG00000027312

Gene Name

attractin

Synonyms

Mgca

MMRRC Submission

042827-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5256 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130906495-131030333 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 130946019 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 247 (D247G)

Ref Sequence

ENSEMBL: ENSMUSP00000028781 (fasta)

Gene Model

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

AlphaFold

Q9WU60

Predicted Effect

probably benign
Transcript: ENSMUST00000028781
AA Change: D247G

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000028781
Gene: ENSMUSG00000027312
AA Change: D247G

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

0.0997

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.8%

Validation Efficiency

97% (95/98)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730015C16Rik	C	A	4: 108,848,065		probably benign	Het
Actr1b	T	C	1: 36,700,092	H372R	probably benign	Het
Ampd2	C	A	3: 108,079,549		probably benign	Het
Anapc4	A	G	5: 52,863,594	S612G	probably benign	Het
Arhgef7	T	C	8: 11,800,811	L141P	probably damaging	Het
Atl1	A	G	12: 69,959,333	D471G	probably damaging	Het
Bag1	T	A	4: 40,948,022	R61W	probably damaging	Het
Card10	C	T	15: 78,778,251	R898H	probably damaging	Het
Cct6b	G	A	11: 82,764,220	A3V	probably damaging	Het
Cfap54	A	T	10: 92,935,091	L2097*	probably null	Het
Cfap54	T	C	10: 93,045,023		probably null	Het
Chd5	T	C	4: 152,372,097	F964L	probably benign	Het
Cog5	A	G	12: 31,886,205	T584A	probably benign	Het
Cpa2	T	A	6: 30,547,197	N157K	probably damaging	Het
Cpeb1	A	T	7: 81,351,839	M440K	probably damaging	Het
Cracr2a	G	A	6: 127,604,029	C56Y	probably damaging	Het
Ddb2	A	C	2: 91,236,728	L30R	probably damaging	Het
Dlk1	T	A	12: 109,459,771	I190N	probably damaging	Het
Dnajc13	T	A	9: 104,203,329	Y851F	possibly damaging	Het
Dopey1	T	A	9: 86,515,328	L895Q	probably damaging	Het
Dyx1c1	T	C	9: 72,972,080		probably null	Het
F7	G	A	8: 13,030,763	C122Y	probably damaging	Het
Frrs1	T	C	3: 116,903,100	V573A	possibly damaging	Het
Gm17541	A	T	12: 4,689,672		probably benign	Het
Gm20388	T	C	8: 122,270,436		probably benign	Het
Gm5519	A	T	19: 33,823,176	H90L	probably damaging	Het
Gm5526	T	A	1: 45,857,409		noncoding transcript	Het
Gm5709	A	T	3: 59,602,550		noncoding transcript	Het
Golga4	T	A	9: 118,556,501	V869D	possibly damaging	Het
Grm7	A	T	6: 111,358,221	Q531L	probably benign	Het
Hnrnpu	C	A	1: 178,335,893	C265F	unknown	Het
Hoxd3	G	A	2: 74,746,867	V364I	possibly damaging	Het
Hspb8	T	C	5: 116,409,473	D150G	probably damaging	Het
Hydin	C	A	8: 110,587,223	N4244K	possibly damaging	Het
Ik	A	G	18: 36,748,873	D136G	probably benign	Het
Il11ra1	T	C	4: 41,767,932		probably benign	Het
Jph1	T	C	1: 17,091,398	I347V	probably benign	Het
Klk1	T	A	7: 44,221,561		probably benign	Het
Lmcd1	T	A	6: 112,288,126		probably benign	Het
Lnx1	C	T	5: 74,685,654	C45Y	probably damaging	Het
Macc1	T	A	12: 119,446,529	M344K	possibly damaging	Het
Madcam1	A	G	10: 79,664,945	E32G	possibly damaging	Het
Mat2a	T	C	6: 72,434,333	D383G	probably benign	Het
Mpst	T	A	15: 78,413,649	I289N	probably damaging	Het
Myh6	C	T	14: 54,952,661	R1055Q	probably damaging	Het
Myh7	T	C	14: 54,979,508	K1131E	probably damaging	Het
Ndrg3	A	T	2: 156,931,205		probably benign	Het
Nebl	A	G	2: 17,433,975	S209P	probably benign	Het
Nid2	A	G	14: 19,768,208		probably null	Het
Nup188	A	T	2: 30,330,749	S945C	probably damaging	Het
Olfr1000	C	T	2: 85,608,473	V146I	probably benign	Het
Olfr251	A	G	9: 38,377,917	N12S	probably benign	Het
Olfr50	A	G	2: 36,793,673	M146V	probably benign	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Patl2	A	G	2: 122,128,887	L32P	probably damaging	Het
Pcdh20	T	A	14: 88,468,377	M496L	probably benign	Het
Pdzd2	A	G	15: 12,372,942	V2369A	possibly damaging	Het
Pfn2	A	G	3: 57,847,391	V31A	probably damaging	Het
Plxna4	T	C	6: 32,251,072	N533S	probably benign	Het
Plxnb1	T	C	9: 109,114,593	F1916S	probably damaging	Het
Ppp4r3b	T	C	11: 29,188,293	F214L	probably benign	Het
Prox1	T	C	1: 190,161,441	D269G	probably benign	Het
Rapgef4	T	C	2: 72,034,034	F71S	probably damaging	Het
Rft1	A	G	14: 30,661,286	I94M	probably benign	Het
S100z	T	C	13: 95,478,619	I13V	probably damaging	Het
Serhl	T	A	15: 83,102,634	V117E	probably damaging	Het
Shroom1	G	A	11: 53,465,507	R336Q	probably benign	Het
Sik3	A	T	9: 46,212,254	Q1067L	probably damaging	Het
Slc22a30	G	A	19: 8,344,393	Q436*	probably null	Het
Slc28a1	G	A	7: 81,122,121	V118M	probably damaging	Het
Slco1a6	T	A	6: 142,132,701	I153F	probably benign	Het
Ss18l1	T	C	2: 180,061,942	Y323H	unknown	Het
Susd4	G	T	1: 182,892,259	A480S	possibly damaging	Het
Syne3	A	T	12: 104,975,880	M1K	probably null	Het
Synpo2l	A	T	14: 20,661,014	S513T	probably benign	Het
Tat	A	T	8: 109,998,334	N388I	probably benign	Het
Tbc1d1	A	G	5: 64,282,009	Y619C	probably damaging	Het
Tbk1	G	A	10: 121,570,685	T216M	probably damaging	Het
Tns1	C	T	1: 73,995,426		probably benign	Het
Trbv5	T	C	6: 41,062,384	V9A	possibly damaging	Het
Trpm5	A	G	7: 143,082,303	Y575H	probably damaging	Het
Ttn	A	T	2: 76,739,701	Y25203*	probably null	Het
Tubb3	C	A	8: 123,421,652	D441E	probably benign	Het
Usp33	T	A	3: 152,391,696	C850*	probably null	Het
Vdac1	G	A	11: 52,384,078		probably null	Het
Vmn1r232	T	C	17: 20,913,584	I251M	probably damaging	Het
Vmn2r11	T	G	5: 109,054,792	I140L	probably benign	Het
Vmn2r6	A	T	3: 64,556,842	N190K	probably benign	Het
Vps51	T	A	19: 6,070,488	H465L	probably benign	Het
Zfp318	T	G	17: 46,412,069	I1666S	probably benign	Het
Zfp446	C	T	7: 12,979,304	R90*	probably null	Het
Zgrf1	T	A	3: 127,602,445	F547I	probably damaging	Het

Other mutations in Atrn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00337:Atrn	APN	2	130958079	missense	probably damaging	1.00
IGL00571:Atrn	APN	2	130995048	missense	probably damaging	1.00
IGL01092:Atrn	APN	2	130947636	nonsense	probably null
IGL01572:Atrn	APN	2	131002795	missense	probably damaging	1.00
IGL01924:Atrn	APN	2	130935565	missense	probably damaging	1.00
IGL02116:Atrn	APN	2	130958089	missense	probably damaging	1.00
IGL02372:Atrn	APN	2	131002754	splice site	probably benign
IGL02390:Atrn	APN	2	131020977	missense	possibly damaging	0.82
IGL02548:Atrn	APN	2	130972282	missense	probably damaging	1.00
IGL02749:Atrn	APN	2	130970144	nonsense	probably null
IGL02749:Atrn	APN	2	130947734	splice site	probably benign
BB010:Atrn	UTSW	2	130995066	missense	probably damaging	1.00
BB020:Atrn	UTSW	2	130995066	missense	probably damaging	1.00
R0026:Atrn	UTSW	2	130957920	missense	probably damaging	1.00
R0403:Atrn	UTSW	2	130906859	missense	probably damaging	1.00
R0479:Atrn	UTSW	2	130999165	nonsense	probably null
R0544:Atrn	UTSW	2	130986826	missense	probably damaging	1.00
R0570:Atrn	UTSW	2	130980134	missense	probably benign	0.01
R0606:Atrn	UTSW	2	130906856	missense	possibly damaging	0.90
R0617:Atrn	UTSW	2	130995085	critical splice donor site	probably null
R0658:Atrn	UTSW	2	130970227	critical splice donor site	probably null
R1108:Atrn	UTSW	2	130957914	missense	probably damaging	1.00
R1112:Atrn	UTSW	2	130999161	missense	probably benign	0.04
R1219:Atrn	UTSW	2	131021007	missense	possibly damaging	0.90
R1422:Atrn	UTSW	2	130957914	missense	probably damaging	1.00
R1524:Atrn	UTSW	2	130957080	missense	probably benign	0.15
R1653:Atrn	UTSW	2	130935624	missense	probably benign
R1795:Atrn	UTSW	2	130972288	missense	probably benign
R1807:Atrn	UTSW	2	130982772	missense	possibly damaging	0.94
R1920:Atrn	UTSW	2	130995051	missense	probably damaging	1.00
R1921:Atrn	UTSW	2	130995051	missense	probably damaging	1.00
R1935:Atrn	UTSW	2	130958035	missense	probably damaging	1.00
R1982:Atrn	UTSW	2	130970222	missense	probably benign
R2000:Atrn	UTSW	2	130935588	missense	probably damaging	1.00
R2143:Atrn	UTSW	2	130957996	missense	probably benign	0.03
R2336:Atrn	UTSW	2	130957954	missense	probably damaging	1.00
R2679:Atrn	UTSW	2	130961675	critical splice donor site	probably null
R3426:Atrn	UTSW	2	131020956	missense	probably benign	0.06
R3909:Atrn	UTSW	2	130994207	missense	probably damaging	1.00
R4077:Atrn	UTSW	2	130964930	critical splice donor site	probably null
R4162:Atrn	UTSW	2	130994228	splice site	probably benign
R4195:Atrn	UTSW	2	130933412	missense	probably damaging	1.00
R4364:Atrn	UTSW	2	130970208	missense	probably benign	0.39
R4465:Atrn	UTSW	2	130960468	missense	probably benign	0.08
R4510:Atrn	UTSW	2	130935577	nonsense	probably null
R4511:Atrn	UTSW	2	130935577	nonsense	probably null
R4527:Atrn	UTSW	2	130973504	missense	probably benign	0.10
R4586:Atrn	UTSW	2	130982042	missense	probably damaging	1.00
R4592:Atrn	UTSW	2	130999130	intron	probably benign
R4658:Atrn	UTSW	2	130933429	missense	probably damaging	1.00
R4735:Atrn	UTSW	2	131020990	missense	probably benign	0.06
R4960:Atrn	UTSW	2	130995047	nonsense	probably null
R4999:Atrn	UTSW	2	130975954	missense	probably damaging	1.00
R5066:Atrn	UTSW	2	130994193	missense	possibly damaging	0.60
R5080:Atrn	UTSW	2	130970124	missense	possibly damaging	0.95
R5141:Atrn	UTSW	2	130999130	intron	probably benign
R5494:Atrn	UTSW	2	131023075	missense	probably damaging	1.00
R5678:Atrn	UTSW	2	130970016	missense	probably damaging	0.96
R5752:Atrn	UTSW	2	130906544	unclassified	probably benign
R5931:Atrn	UTSW	2	130933436	missense	possibly damaging	0.56
R6023:Atrn	UTSW	2	131020980	missense	probably benign	0.25
R6176:Atrn	UTSW	2	130946091	missense	probably benign	0.31
R6377:Atrn	UTSW	2	130979969	missense	probably damaging	1.00
R6433:Atrn	UTSW	2	131023027	missense	probably damaging	1.00
R7226:Atrn	UTSW	2	130986744	missense	probably damaging	0.99
R7402:Atrn	UTSW	2	130947600	missense	probably damaging	1.00
R7541:Atrn	UTSW	2	130961571	missense	possibly damaging	0.46
R7587:Atrn	UTSW	2	130980114	missense	probably damaging	1.00
R7872:Atrn	UTSW	2	130970227	critical splice donor site	probably null
R7910:Atrn	UTSW	2	130964887	missense	probably benign	0.04
R7913:Atrn	UTSW	2	130970211	missense	probably damaging	1.00
R7933:Atrn	UTSW	2	130995066	missense	probably damaging	1.00
R8044:Atrn	UTSW	2	130935529	missense	probably damaging	1.00
R8079:Atrn	UTSW	2	131013641	missense	probably null	1.00
R8093:Atrn	UTSW	2	130975988	missense	probably benign	0.00
R8203:Atrn	UTSW	2	130960549	missense	probably benign	0.00
R8234:Atrn	UTSW	2	131023000	critical splice acceptor site	probably null
R8462:Atrn	UTSW	2	130935584	missense	probably damaging	1.00
R8816:Atrn	UTSW	2	130906878	missense	probably damaging	1.00
R8816:Atrn	UTSW	2	131004574	missense	probably damaging	1.00
R8831:Atrn	UTSW	2	130906601	missense	probably benign	0.22
R8937:Atrn	UTSW	2	130999237	missense	probably benign	0.00
R9161:Atrn	UTSW	2	130935550	missense	probably damaging	1.00
R9722:Atrn	UTSW	2	130961616	missense	probably damaging	1.00
R9786:Atrn	UTSW	2	130944889	missense	probably damaging	1.00
RF009:Atrn	UTSW	2	130906922	missense	probably benign	0.12
X0024:Atrn	UTSW	2	130958139	missense	probably damaging	1.00
Z1088:Atrn	UTSW	2	130973399	missense	probably benign
Z1176:Atrn	UTSW	2	130946193	missense	probably benign	0.27
Z1177:Atrn	UTSW	2	130946042	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTCATTACTTGAGCCTGGGG -3'
(R):5'- TTTGAAGGGCAGCTCCTACC -3'

Sequencing Primer
(F):5'- GCTCTAGCTACACAGAGCTCTG -3'
(R):5'- CTACCCTGCCAGTGAGGAAAG -3'

Posted On

2016-07-06