Incidental Mutation 'R6377:Atrn'
| ID |
515029 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atrn
|
| Ensembl Gene |
ENSMUSG00000027312 |
| Gene Name |
attractin |
| Synonyms |
Mgca |
| MMRRC Submission |
044527-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6377 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
130748415-130872253 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 130821889 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 861
(I861V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028781
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028781]
|
| AlphaFold |
Q9WU60 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028781
AA Change: I861V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000028781
Gene: ENSMUSG00000027312
AA Change: I861V
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.8%
|
| Validation Efficiency |
94% (59/63) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankib1 |
A |
G |
5: 3,743,855 (GRCm39) |
S812P |
possibly damaging |
Het |
| Atp2c2 |
A |
G |
8: 120,453,093 (GRCm39) |
E159G |
probably benign |
Het |
| Clip1 |
A |
G |
5: 123,741,717 (GRCm39) |
V1053A |
possibly damaging |
Het |
| Cngb1 |
C |
A |
8: 95,975,608 (GRCm39) |
G629C |
probably damaging |
Het |
| Cntn5 |
A |
T |
9: 9,743,657 (GRCm39) |
F540Y |
probably damaging |
Het |
| Cpb1 |
A |
C |
3: 20,329,748 (GRCm39) |
|
probably null |
Het |
| Cyp4a14 |
A |
G |
4: 115,353,280 (GRCm39) |
Y11H |
probably benign |
Het |
| Dact2 |
A |
G |
17: 14,419,450 (GRCm39) |
S103P |
probably damaging |
Het |
| Dcstamp |
A |
T |
15: 39,618,317 (GRCm39) |
Y242F |
probably benign |
Het |
| Drd3 |
G |
T |
16: 43,641,670 (GRCm39) |
G329* |
probably null |
Het |
| Duxf1 |
T |
C |
10: 58,059,494 (GRCm39) |
|
probably benign |
Het |
| Dysf |
T |
A |
6: 83,985,945 (GRCm39) |
S17T |
probably benign |
Het |
| Eno1 |
A |
T |
4: 150,333,009 (GRCm39) |
K366N |
possibly damaging |
Het |
| Ffar2 |
C |
T |
7: 30,518,971 (GRCm39) |
V190I |
probably benign |
Het |
| Fkbp15 |
T |
C |
4: 62,242,429 (GRCm39) |
T508A |
probably damaging |
Het |
| Fndc1 |
A |
G |
17: 7,988,567 (GRCm39) |
V1165A |
unknown |
Het |
| Foxj3 |
A |
T |
4: 119,430,945 (GRCm39) |
|
probably null |
Het |
| Gabarap |
T |
C |
11: 69,882,630 (GRCm39) |
|
probably null |
Het |
| Gm19410 |
T |
A |
8: 36,270,736 (GRCm39) |
L1221* |
probably null |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Igf1r |
A |
T |
7: 67,850,998 (GRCm39) |
Y931F |
probably benign |
Het |
| Il23r |
A |
T |
6: 67,400,636 (GRCm39) |
S565T |
probably damaging |
Het |
| Ipo8 |
A |
T |
6: 148,717,995 (GRCm39) |
Y209* |
probably null |
Het |
| Jph2 |
C |
T |
2: 163,181,632 (GRCm39) |
G511R |
probably benign |
Het |
| Khdrbs1 |
C |
A |
4: 129,635,890 (GRCm39) |
D22Y |
probably damaging |
Het |
| Kif5b |
A |
T |
18: 6,212,562 (GRCm39) |
L754Q |
probably damaging |
Het |
| Ksr1 |
C |
T |
11: 78,927,320 (GRCm39) |
|
probably null |
Het |
| L3mbtl4 |
G |
T |
17: 69,084,918 (GRCm39) |
V610F |
probably benign |
Het |
| Lars2 |
A |
G |
9: 123,283,825 (GRCm39) |
T698A |
probably benign |
Het |
| Lonp1 |
A |
G |
17: 56,928,961 (GRCm39) |
V267A |
possibly damaging |
Het |
| Loxhd1 |
T |
A |
18: 77,468,128 (GRCm39) |
D925E |
probably damaging |
Het |
| Lsg1 |
A |
G |
16: 30,393,386 (GRCm39) |
L187P |
possibly damaging |
Het |
| Mki67 |
A |
T |
7: 135,298,050 (GRCm39) |
V2328E |
possibly damaging |
Het |
| Mlh3 |
A |
G |
12: 85,315,271 (GRCm39) |
I305T |
probably damaging |
Het |
| Mtbp |
A |
G |
15: 55,421,016 (GRCm39) |
M1V |
probably null |
Het |
| Myadml2 |
C |
A |
11: 120,538,538 (GRCm39) |
C99F |
probably benign |
Het |
| Ncbp1 |
A |
G |
4: 46,150,703 (GRCm39) |
Y185C |
probably damaging |
Het |
| Ndufaf7 |
A |
T |
17: 79,250,739 (GRCm39) |
Q222L |
probably null |
Het |
| Nlrp4b |
A |
T |
7: 10,449,339 (GRCm39) |
Y147F |
probably benign |
Het |
| Or4c11c |
C |
T |
2: 88,661,613 (GRCm39) |
R51* |
probably null |
Het |
| Pet100 |
T |
C |
8: 3,672,370 (GRCm39) |
V15A |
probably benign |
Het |
| Pot1a |
A |
G |
6: 25,778,869 (GRCm39) |
V75A |
probably benign |
Het |
| Ptprs |
A |
T |
17: 56,725,935 (GRCm39) |
M1043K |
probably damaging |
Het |
| Rnf31 |
A |
G |
14: 55,832,984 (GRCm39) |
T413A |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Homo |
| Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Rubcnl |
A |
T |
14: 75,287,635 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
A |
T |
2: 112,462,530 (GRCm39) |
C4839S |
probably damaging |
Het |
| Scai |
A |
C |
2: 38,992,340 (GRCm39) |
D379E |
probably benign |
Het |
| Scd2 |
G |
T |
19: 44,288,198 (GRCm39) |
G197* |
probably null |
Het |
| Sdr39u1 |
A |
C |
14: 56,135,166 (GRCm39) |
I259S |
probably benign |
Het |
| Slco1a5 |
A |
T |
6: 142,187,906 (GRCm39) |
|
probably null |
Het |
| Sp1 |
A |
T |
15: 102,339,318 (GRCm39) |
T733S |
probably benign |
Het |
| Tecta |
A |
G |
9: 42,255,051 (GRCm39) |
S1711P |
probably damaging |
Het |
| Tedc1 |
G |
T |
12: 113,124,975 (GRCm39) |
W240L |
probably damaging |
Het |
| Trarg1 |
T |
C |
11: 76,571,355 (GRCm39) |
S124P |
probably damaging |
Het |
| Trim50 |
A |
G |
5: 135,382,454 (GRCm39) |
K102R |
probably benign |
Het |
| Utrn |
A |
G |
10: 12,619,827 (GRCm39) |
Y278H |
probably damaging |
Het |
| Vinac1 |
T |
A |
2: 128,878,731 (GRCm39) |
D1065V |
unknown |
Het |
| Vmn2r109 |
A |
C |
17: 20,784,796 (GRCm39) |
|
probably null |
Het |
| Zbed5 |
T |
C |
5: 129,932,210 (GRCm39) |
S720P |
possibly damaging |
Het |
| Zc3h3 |
A |
G |
15: 75,711,304 (GRCm39) |
S386P |
probably damaging |
Het |
| Zscan4-ps1 |
C |
T |
7: 10,802,418 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- TGCTTTGCAGTACTGGATGC -3'
(R):5'- TACCAGGCCTTTCACAGACG -3'
Sequencing Primer
(F):5'- TGCAGTACTGGATGCATATTGAAG -3'
(R):5'- TTCACAGACGCTGCCATTGAG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation