Incidental Mutation 'R5141:Atrn'
ID |
396444 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atrn
|
Ensembl Gene |
ENSMUSG00000027312 |
Gene Name |
attractin |
Synonyms |
Mgca |
MMRRC Submission |
042727-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5141 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
130748415-130872253 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
T to C
at 130841050 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028781
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028781]
|
AlphaFold |
Q9WU60 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028781
|
SMART Domains |
Protein: ENSMUSP00000028781 Gene: ENSMUSG00000027312
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: ENSMUST00000132557
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134964
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151364
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
Validation Efficiency |
96% (76/79) |
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamdec1 |
A |
G |
14: 68,810,577 (GRCm39) |
V193A |
probably benign |
Het |
Adamts18 |
T |
A |
8: 114,501,902 (GRCm39) |
T320S |
probably damaging |
Het |
Adamtsl1 |
G |
T |
4: 86,075,087 (GRCm39) |
M151I |
possibly damaging |
Het |
Adgrv1 |
A |
T |
13: 81,419,037 (GRCm39) |
V5986E |
probably damaging |
Het |
Aifm3 |
A |
G |
16: 17,317,586 (GRCm39) |
E69G |
probably damaging |
Het |
Akap13 |
C |
A |
7: 75,259,362 (GRCm39) |
T662K |
probably benign |
Het |
Alms1 |
A |
G |
6: 85,598,414 (GRCm39) |
D1080G |
probably benign |
Het |
Als2 |
T |
C |
1: 59,209,611 (GRCm39) |
E1457G |
possibly damaging |
Het |
Apobec4 |
A |
G |
1: 152,631,964 (GRCm39) |
|
probably benign |
Het |
Apoo-ps |
C |
T |
13: 107,550,895 (GRCm39) |
|
noncoding transcript |
Het |
Aspscr1 |
G |
A |
11: 120,580,003 (GRCm39) |
V181I |
probably benign |
Het |
C3 |
T |
A |
17: 57,526,570 (GRCm39) |
I804F |
probably damaging |
Het |
Cbfa2t3 |
C |
T |
8: 123,361,760 (GRCm39) |
G421R |
probably benign |
Het |
Chmp4c |
A |
G |
3: 10,432,213 (GRCm39) |
E41G |
probably damaging |
Het |
Clk4 |
T |
A |
11: 51,166,598 (GRCm39) |
F96L |
possibly damaging |
Het |
Ctsg |
G |
A |
14: 56,339,184 (GRCm39) |
R25* |
probably null |
Het |
Cul1 |
A |
G |
6: 47,497,773 (GRCm39) |
D618G |
probably benign |
Het |
Cylc2 |
T |
C |
4: 51,228,587 (GRCm39) |
|
probably benign |
Het |
Dip2a |
G |
A |
10: 76,106,287 (GRCm39) |
T1326I |
probably damaging |
Het |
Etnk2 |
A |
G |
1: 133,296,600 (GRCm39) |
I210V |
probably benign |
Het |
Gm5773 |
T |
A |
3: 93,681,034 (GRCm39) |
D235E |
probably benign |
Het |
Gm7353 |
T |
C |
7: 3,161,001 (GRCm39) |
|
noncoding transcript |
Het |
Gpi1 |
G |
A |
7: 33,926,521 (GRCm39) |
|
probably benign |
Het |
Ing4 |
T |
C |
6: 125,016,837 (GRCm39) |
M5T |
probably benign |
Het |
Inpp4a |
A |
G |
1: 37,419,168 (GRCm39) |
I583V |
probably benign |
Het |
Isyna1 |
T |
C |
8: 71,047,543 (GRCm39) |
V64A |
probably damaging |
Het |
Katnal2 |
T |
A |
18: 77,085,337 (GRCm39) |
D310V |
probably damaging |
Het |
Kbtbd8 |
A |
G |
6: 95,098,820 (GRCm39) |
T126A |
probably damaging |
Het |
Kif13a |
T |
C |
13: 46,906,197 (GRCm39) |
D582G |
probably benign |
Het |
Lmf2 |
G |
A |
15: 89,235,810 (GRCm39) |
|
probably null |
Het |
Lrp2 |
T |
C |
2: 69,382,693 (GRCm39) |
|
probably null |
Het |
Lrp4 |
T |
C |
2: 91,309,023 (GRCm39) |
|
probably benign |
Het |
Lyzl1 |
A |
C |
18: 4,169,209 (GRCm39) |
D71A |
possibly damaging |
Het |
Mak |
C |
T |
13: 41,186,039 (GRCm39) |
C543Y |
possibly damaging |
Het |
Mapk8ip1 |
T |
C |
2: 92,217,110 (GRCm39) |
D404G |
probably damaging |
Het |
Mdga1 |
C |
T |
17: 30,071,467 (GRCm39) |
E385K |
probably benign |
Het |
Mst1r |
T |
A |
9: 107,789,440 (GRCm39) |
I573N |
probably damaging |
Het |
Muc5ac |
T |
A |
7: 141,368,479 (GRCm39) |
N2365K |
possibly damaging |
Het |
Ncan |
T |
C |
8: 70,565,487 (GRCm39) |
E179G |
probably damaging |
Het |
Nlgn2 |
C |
T |
11: 69,716,216 (GRCm39) |
R775H |
probably damaging |
Het |
Or10d5 |
T |
G |
9: 39,861,170 (GRCm39) |
K299T |
probably benign |
Het |
Or4c122 |
A |
C |
2: 89,079,473 (GRCm39) |
Y176* |
probably null |
Het |
Or8g20 |
A |
G |
9: 39,395,827 (GRCm39) |
F238L |
probably damaging |
Het |
Pcolce |
G |
T |
5: 137,604,012 (GRCm39) |
Q352K |
probably benign |
Het |
Peg3 |
G |
T |
7: 6,712,381 (GRCm39) |
T947N |
probably benign |
Het |
Pld3 |
C |
T |
7: 27,233,220 (GRCm39) |
D344N |
probably damaging |
Het |
Plec |
A |
C |
15: 76,074,733 (GRCm39) |
D411E |
probably damaging |
Het |
Pmp2 |
C |
T |
3: 10,247,474 (GRCm39) |
D72N |
probably benign |
Het |
Ptpn9 |
T |
C |
9: 56,943,960 (GRCm39) |
V278A |
possibly damaging |
Het |
Rbm33 |
A |
G |
5: 28,557,687 (GRCm39) |
H300R |
probably damaging |
Het |
Rpgrip1l |
T |
C |
8: 91,987,546 (GRCm39) |
Q837R |
probably benign |
Het |
Rwdd4a |
T |
C |
8: 48,003,709 (GRCm39) |
|
probably benign |
Het |
Sema6a |
T |
C |
18: 47,381,455 (GRCm39) |
T1048A |
probably damaging |
Het |
Senp1 |
G |
A |
15: 97,974,488 (GRCm39) |
A108V |
probably benign |
Het |
Serpine2 |
G |
T |
1: 79,780,580 (GRCm39) |
Q290K |
possibly damaging |
Het |
Sesn1 |
A |
G |
10: 41,687,097 (GRCm39) |
N27S |
probably benign |
Het |
Shroom1 |
T |
A |
11: 53,354,809 (GRCm39) |
L243* |
probably null |
Het |
Slc17a5 |
A |
G |
9: 78,448,270 (GRCm39) |
Y395H |
probably damaging |
Het |
Slc5a8 |
T |
C |
10: 88,755,422 (GRCm39) |
|
probably null |
Het |
Sptbn5 |
G |
A |
2: 119,892,212 (GRCm39) |
S1083F |
probably benign |
Het |
Stx4a |
T |
A |
7: 127,445,787 (GRCm39) |
V231E |
probably damaging |
Het |
Swt1 |
A |
T |
1: 151,287,145 (GRCm39) |
S116T |
probably benign |
Het |
Syt9 |
C |
T |
7: 107,103,426 (GRCm39) |
T408I |
probably damaging |
Het |
Tgm7 |
T |
C |
2: 120,931,480 (GRCm39) |
T228A |
probably benign |
Het |
Tmem115 |
A |
G |
9: 107,415,141 (GRCm39) |
D310G |
probably benign |
Het |
Trcg1 |
G |
A |
9: 57,148,587 (GRCm39) |
G53D |
probably damaging |
Het |
Tsfm |
T |
C |
10: 126,865,482 (GRCm39) |
K100E |
probably damaging |
Het |
Usp1 |
A |
G |
4: 98,822,446 (GRCm39) |
T587A |
probably damaging |
Het |
Vcpip1 |
G |
T |
1: 9,818,302 (GRCm39) |
A27E |
unknown |
Het |
Vmn2r49 |
T |
C |
7: 9,720,300 (GRCm39) |
N397S |
probably benign |
Het |
Vmn2r8 |
A |
G |
5: 108,956,572 (GRCm39) |
S17P |
probably damaging |
Het |
Vwa3b |
A |
G |
1: 37,226,102 (GRCm39) |
|
probably benign |
Het |
Ythdc2 |
T |
A |
18: 44,998,114 (GRCm39) |
S1094T |
probably benign |
Het |
Zbtb22 |
C |
G |
17: 34,137,610 (GRCm39) |
S585C |
possibly damaging |
Het |
Zhx2 |
A |
G |
15: 57,685,182 (GRCm39) |
T184A |
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 |
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'- GAACATGTAAGTTGGCCATTAGTG -3'
(R):5'- TACTTTTGTCCAGGATGACCAAG -3'
Sequencing Primer
(F):5'- GGACCACACATCTGTATTTCTTATTC -3'
(R):5'- CAGGAGTAGCCACAAAGT -3'
|
Posted On |
2016-06-21 |