Incidental Mutation 'R7226:Atrn'
ID |
562139 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atrn
|
Ensembl Gene |
ENSMUSG00000027312 |
Gene Name |
attractin |
Synonyms |
Mgca |
MMRRC Submission |
045298-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7226 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
130748415-130872253 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 130828664 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Glycine
at position 1070
(C1070G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028781
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028781]
|
AlphaFold |
Q9WU60 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000028781
AA Change: C1070G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000028781 Gene: ENSMUSG00000027312 AA Change: C1070G
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700025B11Rik |
C |
T |
15: 77,443,189 (GRCm39) |
V17I |
unknown |
Het |
Acad8 |
T |
A |
9: 26,889,726 (GRCm39) |
K323* |
probably null |
Het |
Adam18 |
A |
T |
8: 25,137,824 (GRCm39) |
C339S |
probably damaging |
Het |
Anxa7 |
A |
G |
14: 20,510,263 (GRCm39) |
F396L |
probably damaging |
Het |
Ap2m1 |
T |
A |
16: 20,358,201 (GRCm39) |
V73D |
probably damaging |
Het |
Asic2 |
A |
T |
11: 80,862,340 (GRCm39) |
I270N |
probably damaging |
Het |
Bag6 |
A |
G |
17: 35,361,921 (GRCm39) |
N517S |
unknown |
Het |
Bhmt1b |
A |
G |
18: 87,775,590 (GRCm39) |
D371G |
possibly damaging |
Het |
Bltp3b |
A |
T |
10: 89,644,503 (GRCm39) |
Q1181L |
probably benign |
Het |
Cavin1 |
A |
C |
11: 100,861,284 (GRCm39) |
D3E |
probably benign |
Het |
Cc2d2b |
T |
C |
19: 40,779,751 (GRCm39) |
L571P |
unknown |
Het |
Ccbe1 |
A |
T |
18: 66,216,199 (GRCm39) |
C175S |
probably damaging |
Het |
Cd19 |
A |
G |
7: 126,013,995 (GRCm39) |
L5P |
unknown |
Het |
Cd46 |
A |
G |
1: 194,724,314 (GRCm39) |
S362P |
possibly damaging |
Het |
Celf5 |
A |
G |
10: 81,303,863 (GRCm39) |
S198P |
probably damaging |
Het |
Cep170b |
A |
G |
12: 112,704,359 (GRCm39) |
R706G |
possibly damaging |
Het |
Chd3 |
G |
T |
11: 69,260,037 (GRCm39) |
R61S |
unknown |
Het |
Cpsf6 |
A |
C |
10: 117,197,727 (GRCm39) |
W253G |
unknown |
Het |
Cyp27a1 |
G |
A |
1: 74,776,507 (GRCm39) |
G481D |
probably damaging |
Het |
Ddr1 |
C |
T |
17: 36,002,039 (GRCm39) |
D218N |
possibly damaging |
Het |
Dhx34 |
A |
T |
7: 15,932,801 (GRCm39) |
V1046D |
probably damaging |
Het |
Dhx9 |
A |
T |
1: 153,341,423 (GRCm39) |
D608E |
probably benign |
Het |
Dnajc6 |
C |
A |
4: 101,496,569 (GRCm39) |
A912E |
probably damaging |
Het |
Ehmt1 |
T |
C |
2: 24,694,794 (GRCm39) |
D1051G |
probably damaging |
Het |
Fam217b |
C |
A |
2: 178,062,996 (GRCm39) |
A320E |
probably benign |
Het |
Farsa |
T |
A |
8: 85,590,689 (GRCm39) |
I169N |
probably benign |
Het |
Fbn2 |
A |
G |
18: 58,170,142 (GRCm39) |
C2210R |
probably damaging |
Het |
Fbxo3 |
T |
A |
2: 103,880,642 (GRCm39) |
S251T |
probably benign |
Het |
Fer1l6 |
C |
T |
15: 58,462,384 (GRCm39) |
T813I |
probably benign |
Het |
Ftl1-ps1 |
A |
T |
13: 74,555,114 (GRCm39) |
E131V |
probably damaging |
Het |
Gins3 |
T |
A |
8: 96,364,499 (GRCm39) |
I83N |
probably damaging |
Het |
Gja3 |
T |
C |
14: 57,273,350 (GRCm39) |
T341A |
probably benign |
Het |
Gja5 |
A |
G |
3: 96,958,174 (GRCm39) |
Y77C |
probably damaging |
Het |
Gm7247 |
A |
G |
14: 51,602,808 (GRCm39) |
K48R |
probably damaging |
Het |
Gsx2 |
C |
A |
5: 75,236,621 (GRCm39) |
S67* |
probably null |
Het |
H2-Q5 |
T |
A |
17: 35,616,089 (GRCm39) |
L217Q |
|
Het |
Impg2 |
T |
A |
16: 56,087,467 (GRCm39) |
C1095* |
probably null |
Het |
Itga7 |
G |
T |
10: 128,776,801 (GRCm39) |
W222L |
probably damaging |
Het |
Kdm2b |
T |
A |
5: 123,059,512 (GRCm39) |
D530V |
possibly damaging |
Het |
Klhdc8a |
A |
T |
1: 132,230,344 (GRCm39) |
D153V |
probably damaging |
Het |
Lin28a |
C |
T |
4: 133,733,619 (GRCm39) |
G143S |
probably damaging |
Het |
Memo1 |
A |
G |
17: 74,509,338 (GRCm39) |
L227S |
probably damaging |
Het |
Mettl27 |
T |
A |
5: 134,964,657 (GRCm39) |
V138E |
probably damaging |
Het |
Mov10 |
G |
T |
3: 104,708,328 (GRCm39) |
L474I |
probably damaging |
Het |
Nat10 |
T |
C |
2: 103,557,098 (GRCm39) |
N852S |
probably benign |
Het |
Nfkbie |
T |
C |
17: 45,870,153 (GRCm39) |
V166A |
possibly damaging |
Het |
Nktr |
T |
C |
9: 121,575,599 (GRCm39) |
M369T |
probably damaging |
Het |
Nlrp9a |
A |
T |
7: 26,258,149 (GRCm39) |
N589I |
probably benign |
Het |
Nrn1 |
G |
A |
13: 36,914,577 (GRCm39) |
R8C |
probably benign |
Het |
Nrsn1 |
A |
G |
13: 25,437,451 (GRCm39) |
I159T |
probably damaging |
Het |
Or1e29 |
A |
G |
11: 73,667,503 (GRCm39) |
S217P |
possibly damaging |
Het |
Or2h15 |
C |
T |
17: 38,441,324 (GRCm39) |
G253D |
probably benign |
Het |
Or5p61 |
A |
T |
7: 107,758,164 (GRCm39) |
D305E |
probably benign |
Het |
Or6c88 |
G |
A |
10: 129,406,584 (GRCm39) |
G20D |
probably benign |
Het |
Osbp |
T |
A |
19: 11,956,031 (GRCm39) |
D385E |
probably benign |
Het |
Pan3 |
T |
A |
5: 147,463,802 (GRCm39) |
N547K |
probably damaging |
Het |
Pip4p2 |
T |
A |
4: 14,892,464 (GRCm39) |
D109E |
probably damaging |
Het |
Pum1 |
C |
A |
4: 130,499,292 (GRCm39) |
T1036K |
probably damaging |
Het |
Rad54l2 |
C |
A |
9: 106,590,671 (GRCm39) |
R485L |
probably damaging |
Het |
Rps26 |
A |
T |
10: 128,461,087 (GRCm39) |
F101I |
unknown |
Het |
Sdsl |
T |
C |
5: 120,598,702 (GRCm39) |
N138S |
probably benign |
Het |
Slc28a2b |
C |
A |
2: 122,353,013 (GRCm39) |
R453S |
probably benign |
Het |
Slc39a6 |
A |
T |
18: 24,717,084 (GRCm39) |
H649Q |
probably damaging |
Het |
Snip1 |
T |
A |
4: 124,965,273 (GRCm39) |
F226Y |
probably benign |
Het |
Srrd |
T |
C |
5: 112,485,322 (GRCm39) |
T334A |
unknown |
Het |
St14 |
C |
T |
9: 31,011,448 (GRCm39) |
D448N |
possibly damaging |
Het |
Tmem270 |
T |
A |
5: 134,930,538 (GRCm39) |
Q241L |
probably benign |
Het |
Tubb4b |
T |
C |
2: 25,114,180 (GRCm39) |
D41G |
probably benign |
Het |
Usf3 |
T |
C |
16: 44,040,368 (GRCm39) |
M1616T |
possibly damaging |
Het |
Vmn2r95 |
A |
T |
17: 18,672,245 (GRCm39) |
I733F |
possibly damaging |
Het |
Zfp976 |
A |
T |
7: 42,262,684 (GRCm39) |
C385* |
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 |
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 |
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'- CAAGGGTGGCCTTAAAATCCAC -3'
(R):5'- CCAAGAGGCCTTTTCCCTTTAAG -3'
Sequencing Primer
(F):5'- GGGAATCTCACTATGTTACCCAGG -3'
(R):5'- AAGATATTTAAGTCAACTGCAGGTAC -3'
|
Posted On |
2019-06-26 |