Mutagenetix > Incidental Mutation

Incidental Mutation 'RF009:Atrn'

603031

Institutional Source

Beutler Lab

Gene Symbol

Atrn

Ensembl Gene

ENSMUSG00000027312

Gene Name

attractin

Synonyms

Mgca

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

RF009 (G1)

Quality Score

175.009

Status

Validated

Chromosome

Chromosomal Location

130906495-131030333 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 130906922 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 121 (T121K)

Ref Sequence

ENSEMBL: ENSMUSP00000028781 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028781] [ENSMUST00000146975]

AlphaFold

Q9WU60

Predicted Effect

probably benign
Transcript: ENSMUST00000028781
AA Change: T121K

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000028781
Gene: ENSMUSG00000027312
AA Change: T121K

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

probably benign
Transcript: ENSMUST00000146975

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.5%

Validation Efficiency

96% (53/55)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030445D17Rik	ACACACACCCGC	AC	4: 136,462,350		probably null	Het
AI182371	A	G	2: 35,089,197	V153A	possibly damaging	Het
AI837181	CGG	CGGTGG	19: 5,425,234		probably benign	Het
Ankhd1	GCGGCG	GCGGCGTCGGCG	18: 36,560,922		probably benign	Het
Apoc2	C	T	7: 19,671,842	M71I	probably benign	Het
Arhgap17	CTGTTGTTG	CTGTTG	7: 123,286,862		probably benign	Het
Ccdc170	C	CCAG	10: 4,561,030		probably benign	Het
Cckbr	GCA	G	7: 105,434,686		probably null	Het
Cdk13	T	C	13: 17,803,744	D303G	unknown	Het
Cfap65	C	A	1: 74,905,647	R1477L	probably damaging	Het
Chd2	A	G	7: 73,519,662	S37P	possibly damaging	Het
Chga	AGC	AGCCGC	12: 102,561,420		probably benign	Het
Csf2rb2	T	C	15: 78,291,927	I259V	probably benign	Het
Csnk1d	A	T	11: 120,971,627	N275K	possibly damaging	Het
Dmxl1	A	C	18: 49,893,394	R1856S	probably damaging	Het
Dnah5	T	C	15: 28,204,019	V14A	probably benign	Het
Edc4	G	A	8: 105,889,180	S729N	probably benign	Het
Emilin3	T	C	2: 160,909,092	S246G	probably benign	Het
Epc2	T	G	2: 49,532,237		probably null	Het
Exoc6	T	A	19: 37,571,620	F101I	probably benign	Het
Fam171b	GCAGCA	GCAGCACCAGCA	2: 83,812,880		probably benign	Het
Fam81b	CTGTT	CTGTTGTT	13: 76,271,316		probably benign	Het
Flywch1	CTCACCCACTCCTGGTGT	CTCACCCACTCCTGGTGTGGGGAGGCTACGTAGTCACCCACTCCTGGTGT	17: 23,762,161		probably null	Het
Gab3	TTC	TTCCTC	X: 74,999,992		probably benign	Het
Gab3	CTT	CTTATT	X: 75,000,024		probably null	Het
Gabpa	C	A	16: 84,844,336	Q93K	probably benign	Het
Gabre	GGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCTGGCTCAGGCTC	GGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCTGGCTCAGGCTC	X: 72,270,712		probably benign	Het
Gabre	GGCTCA	GGCTCAAGCTCA	X: 72,270,713		probably benign	Het
Gm35339	GAGGAGGA	G	15: 76,363,167		probably null	Het
Gm36028	T	C	16: 37,854,479	D207G	probably benign	Het
H2-T3	TCCCGAAGAAC	TC	17: 36,189,402		probably benign	Het
Htr5a	A	G	5: 27,842,861	D138G	probably damaging	Het
Ifi207	G	A	1: 173,728,992	P727S	probably benign	Het
Ifna13	T	A	4: 88,643,908	S160C	probably damaging	Het
Kcnh8	G	A	17: 52,978,239	R1079H	probably benign	Het
Klri2	GGAG	GG	6: 129,733,774		probably null	Het
Lce1m	GTTGCTGCCACTG	GTTGCTGCCACTGTTGCTGCCACTG	3: 93,018,131		probably benign	Het
Lrch1	TTGGTGGTGCTGGTGG	TTGGTGG	14: 74,947,574		probably benign	Het
Lrch4	A	G	5: 137,637,543		probably null	Het
Lrrc2	TTGATTCGGTTCACC	T	9: 110,981,676		probably null	Het
Map1a	GCTCCAGC	GCTCCAGCCCCAGCTCCAGCTCCAGCTCCACCTCCAGC	2: 121,306,301		probably benign	Het
Mettl25	T	C	10: 105,833,239		probably benign	Het
Mex3b	A	G	7: 82,867,760	D37G	probably damaging	Het
Mon1a	T	A	9: 107,901,234	V219E	probably damaging	Het
Myh3	GATTA	GATTAATTA	11: 67,086,355		probably null	Het
Myh3	ATTAC	ATTACTTAC	11: 67,086,356		probably null	Het
Myh3	TTACG	TTACGTACG	11: 67,086,357		probably null	Het
Myo5b	T	A	18: 74,643,999	C377S	probably damaging	Het
Nefh	ACTTGGCCTCAGCTGGGG	ACTTGGCCTCAGCTGGGGCCTTGGCCTCAGCTGGGG	11: 4,940,997		probably benign	Het
Nos1ap	T	C	1: 170,318,581	D468G	probably damaging	Het
Ntn5	T	C	7: 45,693,260		probably null	Het
Olfr194	T	A	16: 59,119,911	H53L	probably damaging	Het
Olfr884	A	T	9: 38,047,747	H175L	probably damaging	Het
Oog2	T	C	4: 144,195,285	V255A	probably benign	Het
Pdgfd	C	A	9: 6,288,624	L93M	probably damaging	Het
Pgls	G	T	8: 71,592,463	V83L	probably damaging	Het
Pigw	C	A	11: 84,877,161	Q447H	probably damaging	Het
Pnmal1	TCATGATGCACCTGCTTCAACATC	TCATGATGCACCTGCTTCAACATCGCATGATGCACCTGCTTCAACATC	7: 16,961,427		probably benign	Het
Poc1a	C	A	9: 106,295,218	L253M	possibly damaging	Het
Ppl	T	A	16: 5,097,931	E589D	probably benign	Het
Prkar1b	A	G	5: 139,108,621	S71P	probably benign	Het
Prx	T	C	7: 27,518,960	F1101S	probably damaging	Het
Rffl	A	G	11: 82,845,772	V26A	probably benign	Het
Scube3	T	A	17: 28,168,397	L923Q	probably damaging	Het
Setd2	C	T	9: 110,550,711	P1198L	probably damaging	Het
Shank2	C	A	7: 144,411,571	A972E	possibly damaging	Het
Slc10a6	A	G	5: 103,608,992	L302P	probably damaging	Het
Slc29a3	C	T	10: 60,750,561	G42D	probably benign	Het
Spg20	T	C	3: 55,127,606	V471A	probably benign	Het
Srebf1	T	C	11: 60,204,116	T486A	probably benign	Het
Sspo	T	A	6: 48,459,985	Y1284*	probably null	Het
Supt20	AGCAGC	AGCAGCCGCAGC	3: 54,727,662		probably benign	Het
Tcof1	GCA	GCACCA	18: 60,835,743		probably benign	Het
Tff1	CTTCCTG	C	17: 31,164,927		probably benign	Het
Tmprss13	ATCTCCAGCAAGGGCACCTCCTCAGGCCTCTCCAGCAAGGACACCTCCTCAGGCCTCTCCAACAAGGACACCTCCTCAGGCCTCTCCAGCAAGGGCACCTCCTC	ATCTCCAGCAAGGGCACCTCCTCAGGGCTCTCCAGCAAGGGCACCTCCTCAGGCCTCTCCAGCAAGGACACCTCCTCAGGCCTCTCCAACAAGGACACCTCCTCAGGCCTCTCCAGCAAGGGCACCTCCTC	9: 45,328,464		probably benign	Het
Tnfrsf25	T	C	4: 152,119,624	W341R	probably damaging	Het
Trappc9	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	GCTGCTGCTGCTGCTTCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	15: 72,801,287		probably benign	Het
Trav8d-1	T	A	14: 52,778,750	L31Q	probably damaging	Het
Ttc23	A	T	7: 67,726,029	I452F	possibly damaging	Het
Uimc1	T	C	13: 55,050,785	E526G	possibly damaging	Het
Ulbp1	T	A	10: 7,447,405	K233N	unknown	Het
Usp17ld	A	T	7: 103,250,288	V479E	probably damaging	Het
Utrn	T	TGTTACCC	10: 12,633,945		probably null	Het
Vmn1r9	C	T	6: 57,071,480	S180L	probably benign	Het
Zfp598	CACC	CACCCCTACC	17: 24,680,787		probably benign	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
R5256:Atrn	UTSW	2	130946019	missense	probably benign	0.39
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
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'- TTGGATATGGACCCGCCG -3'
(R):5'- CTCCAGGAGGCAAGCCATC -3'

Sequencing Primer
(F):5'- TCAGCCCCAGGAAGATGGTG -3'
(R):5'- TCATCAAACACAGTGGGGC -3'

Posted On

2019-12-04