Incidental Mutation 'R1524:Atrn'
| ID |
167695 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atrn
|
| Ensembl Gene |
ENSMUSG00000027312 |
| Gene Name |
attractin |
| Synonyms |
Mgca |
| MMRRC Submission |
039565-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1524 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
130748415-130872253 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 130799000 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 390
(V390A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028781
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028781]
|
| AlphaFold |
Q9WU60 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028781
AA Change: V390A
PolyPhen 2
Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000028781
Gene: ENSMUSG00000027312
AA Change: V390A
| 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 |
0.0904 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
97% (68/70) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
G |
T |
5: 88,119,548 (GRCm39) |
V102L |
probably benign |
Het |
| Adck1 |
T |
C |
12: 88,368,854 (GRCm39) |
Y111H |
probably damaging |
Het |
| Adcy10 |
G |
T |
1: 165,345,972 (GRCm39) |
K340N |
probably damaging |
Het |
| Aebp1 |
T |
C |
11: 5,820,089 (GRCm39) |
V355A |
probably damaging |
Het |
| Atp2b2 |
T |
C |
6: 113,751,162 (GRCm39) |
|
probably benign |
Het |
| Bpifc |
T |
A |
10: 85,813,599 (GRCm39) |
Q315L |
probably benign |
Het |
| C1qtnf6 |
T |
G |
15: 78,409,092 (GRCm39) |
|
probably null |
Het |
| Cab39l |
A |
G |
14: 59,757,186 (GRCm39) |
|
probably benign |
Het |
| Capn12 |
T |
A |
7: 28,582,189 (GRCm39) |
|
probably benign |
Het |
| Ceacam18 |
A |
C |
7: 43,288,779 (GRCm39) |
T177P |
possibly damaging |
Het |
| Ces5a |
A |
T |
8: 94,252,293 (GRCm39) |
F200I |
probably damaging |
Het |
| Cldn19 |
G |
T |
4: 119,114,248 (GRCm39) |
|
probably null |
Het |
| Cntnap2 |
A |
G |
6: 46,507,613 (GRCm39) |
S46P |
probably damaging |
Het |
| Dchs1 |
A |
G |
7: 105,413,732 (GRCm39) |
Y1028H |
probably damaging |
Het |
| Exd1 |
A |
T |
2: 119,355,155 (GRCm39) |
F253L |
probably damaging |
Het |
| Fam161a |
A |
G |
11: 22,965,826 (GRCm39) |
N40D |
possibly damaging |
Het |
| Fam81a |
A |
T |
9: 70,032,390 (GRCm39) |
I34N |
probably damaging |
Het |
| Fchsd1 |
A |
C |
18: 38,098,950 (GRCm39) |
|
probably null |
Het |
| Fut11 |
T |
A |
14: 20,746,234 (GRCm39) |
F359I |
possibly damaging |
Het |
| Fut7 |
T |
C |
2: 25,315,159 (GRCm39) |
V92A |
probably damaging |
Het |
| Grid2 |
C |
G |
6: 64,406,738 (GRCm39) |
F699L |
possibly damaging |
Het |
| Grin2a |
A |
G |
16: 9,481,467 (GRCm39) |
S445P |
possibly damaging |
Het |
| H2al2b |
A |
C |
Y: 2,720,391 (GRCm39) |
F95C |
probably damaging |
Het |
| Hecw2 |
T |
C |
1: 53,890,777 (GRCm39) |
D1246G |
probably damaging |
Het |
| Ifit1 |
A |
G |
19: 34,625,032 (GRCm39) |
N56S |
probably damaging |
Het |
| Ldb3 |
C |
A |
14: 34,277,313 (GRCm39) |
V354L |
probably benign |
Het |
| Lrig2 |
T |
C |
3: 104,371,192 (GRCm39) |
Y479C |
probably benign |
Het |
| Ltn1 |
A |
G |
16: 87,178,444 (GRCm39) |
V1595A |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,326,323 (GRCm39) |
V2939A |
possibly damaging |
Het |
| Mapre3 |
T |
G |
5: 31,019,261 (GRCm39) |
I35S |
probably damaging |
Het |
| Med16 |
A |
T |
10: 79,734,150 (GRCm39) |
L588Q |
probably damaging |
Het |
| Ncapg2 |
T |
C |
12: 116,398,198 (GRCm39) |
|
probably benign |
Het |
| Ncstn |
C |
A |
1: 171,899,716 (GRCm39) |
R322L |
possibly damaging |
Het |
| Ndst1 |
A |
T |
18: 60,831,576 (GRCm39) |
I594N |
probably damaging |
Het |
| Ndst3 |
A |
G |
3: 123,342,555 (GRCm39) |
I752T |
possibly damaging |
Het |
| Obscn |
G |
T |
11: 59,006,681 (GRCm39) |
S1185R |
probably damaging |
Het |
| Or5b112 |
T |
A |
19: 13,319,486 (GRCm39) |
C121* |
probably null |
Het |
| Or6aa1 |
A |
G |
7: 86,044,020 (GRCm39) |
S229P |
probably benign |
Het |
| Or9q1 |
A |
T |
19: 13,805,679 (GRCm39) |
L27H |
probably damaging |
Het |
| Otof |
T |
A |
5: 30,536,900 (GRCm39) |
D1285V |
probably benign |
Het |
| Pcnx2 |
A |
G |
8: 126,617,880 (GRCm39) |
I125T |
probably benign |
Het |
| Pde4a |
T |
C |
9: 21,112,543 (GRCm39) |
S240P |
probably damaging |
Het |
| Pi15 |
T |
C |
1: 17,690,076 (GRCm39) |
S126P |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,188,004 (GRCm39) |
S3435G |
probably damaging |
Het |
| Plin1 |
C |
A |
7: 79,376,338 (GRCm39) |
V133L |
probably benign |
Het |
| Pnpt1 |
T |
A |
11: 29,080,776 (GRCm39) |
C7S |
unknown |
Het |
| Ppp3ca |
A |
T |
3: 136,503,579 (GRCm39) |
M51L |
probably benign |
Het |
| Primpol |
G |
T |
8: 47,039,502 (GRCm39) |
|
probably benign |
Het |
| Prlr |
T |
C |
15: 10,319,419 (GRCm39) |
V116A |
probably damaging |
Het |
| Ptgr3 |
A |
G |
18: 84,112,831 (GRCm39) |
E169G |
probably benign |
Het |
| Rnf139 |
A |
G |
15: 58,761,266 (GRCm39) |
D35G |
probably damaging |
Het |
| Rsbn1l |
T |
A |
5: 21,156,671 (GRCm39) |
K38M |
probably damaging |
Het |
| Ryr3 |
T |
A |
2: 112,699,427 (GRCm39) |
I888F |
probably damaging |
Het |
| Sec16a |
C |
A |
2: 26,318,394 (GRCm39) |
V1566F |
probably damaging |
Het |
| Sin3b |
A |
G |
8: 73,479,915 (GRCm39) |
T874A |
probably benign |
Het |
| Skic3 |
T |
A |
13: 76,286,491 (GRCm39) |
D891E |
probably benign |
Het |
| Slc5a5 |
A |
C |
8: 71,344,978 (GRCm39) |
Y110D |
probably damaging |
Het |
| Smarcd2 |
C |
T |
11: 106,157,978 (GRCm39) |
V97I |
probably benign |
Het |
| St6galnac2 |
G |
A |
11: 116,575,313 (GRCm39) |
|
probably benign |
Het |
| Tbc1d22b |
T |
C |
17: 29,789,585 (GRCm39) |
L149P |
probably damaging |
Het |
| Tekt2 |
T |
C |
4: 126,217,442 (GRCm39) |
I208V |
probably benign |
Het |
| Tenm3 |
A |
G |
8: 48,682,016 (GRCm39) |
I2522T |
possibly damaging |
Het |
| Ttll5 |
T |
A |
12: 85,911,342 (GRCm39) |
Y233* |
probably null |
Het |
| Vcpip1 |
C |
T |
1: 9,794,727 (GRCm39) |
E1215K |
probably damaging |
Het |
| Wdr4 |
T |
C |
17: 31,728,737 (GRCm39) |
|
probably benign |
Het |
| Zfp703 |
G |
A |
8: 27,469,401 (GRCm39) |
G355D |
probably damaging |
Het |
| Zfp830 |
T |
A |
11: 82,655,794 (GRCm39) |
D199E |
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 |
|
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 |
|
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'- TGCACATGGATGGGACATCTTTGAAC -3'
(R):5'- ATGGGCATAGGCTTGCTGACAC -3'
Sequencing Primer
(F):5'- GGGACATCTTTGAACTGGATTATATC -3'
(R):5'- ACAACTTGGTGACAACTTGGTG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation