Incidental Mutation 'R6176:Atrn'
| ID |
487740 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atrn
|
| Ensembl Gene |
ENSMUSG00000027312 |
| Gene Name |
attractin |
| Synonyms |
Mgca |
| MMRRC Submission |
044318-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6176 (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 130788011 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 271
(E271G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028781
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028781]
|
| AlphaFold |
Q9WU60 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028781
AA Change: E271G
PolyPhen 2
Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000028781
Gene: ENSMUSG00000027312
AA Change: E271G
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| Validation Efficiency |
97% (60/62) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akna |
T |
C |
4: 63,295,969 (GRCm39) |
Q966R |
probably benign |
Het |
| Amn |
A |
G |
12: 111,240,590 (GRCm39) |
D74G |
possibly damaging |
Het |
| Ank2 |
T |
A |
3: 126,739,120 (GRCm39) |
T2255S |
probably benign |
Het |
| Ankfy1 |
G |
A |
11: 72,645,285 (GRCm39) |
C788Y |
probably benign |
Het |
| Apaf1 |
A |
G |
10: 90,895,433 (GRCm39) |
|
probably null |
Het |
| Asl |
T |
A |
5: 130,047,720 (GRCm39) |
H82L |
probably benign |
Het |
| B4galnt3 |
A |
G |
6: 120,201,125 (GRCm39) |
F184S |
probably damaging |
Het |
| C1s2 |
T |
A |
6: 124,602,768 (GRCm39) |
H481L |
probably damaging |
Het |
| Cav2 |
A |
G |
6: 17,286,918 (GRCm39) |
D58G |
possibly damaging |
Het |
| Cc2d2a |
A |
T |
5: 43,866,455 (GRCm39) |
H755L |
probably benign |
Het |
| Ccdc65 |
A |
G |
15: 98,606,433 (GRCm39) |
|
probably null |
Het |
| Celsr3 |
A |
T |
9: 108,705,554 (GRCm39) |
Y679F |
probably damaging |
Het |
| Cep135 |
A |
T |
5: 76,772,490 (GRCm39) |
Y625F |
probably benign |
Het |
| Cfhr1 |
A |
G |
1: 139,478,654 (GRCm39) |
S58P |
probably damaging |
Het |
| Clip4 |
T |
A |
17: 72,113,628 (GRCm39) |
C259* |
probably null |
Het |
| Cyp2j12 |
T |
A |
4: 96,029,074 (GRCm39) |
Q69L |
probably damaging |
Het |
| Dock3 |
G |
A |
9: 106,790,147 (GRCm39) |
T1484I |
probably benign |
Het |
| Ecscr |
CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT |
CCTGCTGCTGCTGCTGCTGCTGCTGCTGCT |
18: 35,849,813 (GRCm39) |
|
probably benign |
Het |
| Efcab3 |
A |
T |
11: 104,683,383 (GRCm39) |
I1604F |
probably benign |
Het |
| Fam43b |
T |
C |
4: 138,122,522 (GRCm39) |
D266G |
probably damaging |
Het |
| Fbxl13 |
T |
A |
5: 21,705,498 (GRCm39) |
I618F |
possibly damaging |
Het |
| Gne |
C |
T |
4: 44,053,019 (GRCm39) |
|
probably benign |
Het |
| Gnpat |
T |
A |
8: 125,605,593 (GRCm39) |
V321E |
probably damaging |
Het |
| Gpatch8 |
G |
A |
11: 102,378,350 (GRCm39) |
A200V |
unknown |
Het |
| Grid1 |
C |
A |
14: 35,284,504 (GRCm39) |
A749E |
probably benign |
Het |
| Grip2 |
C |
T |
6: 91,756,832 (GRCm39) |
V540I |
probably benign |
Het |
| Ice2 |
C |
T |
9: 69,324,354 (GRCm39) |
T759M |
probably damaging |
Het |
| Jrk |
G |
T |
15: 74,578,189 (GRCm39) |
N365K |
possibly damaging |
Het |
| Kank4 |
A |
G |
4: 98,653,791 (GRCm39) |
I879T |
probably damaging |
Het |
| Krtap20-1 |
T |
A |
16: 88,812,288 (GRCm39) |
Y24* |
probably null |
Het |
| Lao1 |
T |
A |
4: 118,819,197 (GRCm39) |
M1K |
probably null |
Het |
| Mlf1 |
A |
G |
3: 67,291,927 (GRCm39) |
R31G |
probably damaging |
Het |
| Nt5c3b |
T |
C |
11: 100,330,974 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
A |
G |
2: 119,460,902 (GRCm39) |
R132G |
probably benign |
Het |
| Or11g1 |
A |
G |
14: 50,651,847 (GRCm39) |
Y282C |
probably damaging |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or5w20 |
G |
A |
2: 87,727,280 (GRCm39) |
V254I |
probably benign |
Het |
| Or8d2b |
A |
C |
9: 38,788,673 (GRCm39) |
D67A |
probably damaging |
Het |
| Paqr9 |
G |
T |
9: 95,442,828 (GRCm39) |
V273L |
possibly damaging |
Het |
| Pcdha9 |
A |
T |
18: 37,131,984 (GRCm39) |
D351V |
probably benign |
Het |
| Pcdhga1 |
A |
G |
18: 37,797,282 (GRCm39) |
D762G |
probably benign |
Het |
| Pde3a |
T |
A |
6: 141,444,615 (GRCm39) |
L1141Q |
possibly damaging |
Het |
| Pga5 |
T |
A |
19: 10,649,149 (GRCm39) |
|
probably null |
Het |
| Phldb3 |
C |
A |
7: 24,326,127 (GRCm39) |
R570S |
probably damaging |
Het |
| Slc22a6 |
A |
C |
19: 8,599,161 (GRCm39) |
E264A |
probably damaging |
Het |
| Slc49a4 |
C |
T |
16: 35,525,167 (GRCm39) |
M426I |
probably benign |
Het |
| Slit1 |
T |
C |
19: 41,626,034 (GRCm39) |
K576R |
probably damaging |
Het |
| Sox21 |
T |
C |
14: 118,473,040 (GRCm39) |
K3R |
possibly damaging |
Het |
| Stk32c |
A |
T |
7: 138,700,691 (GRCm39) |
D297E |
probably benign |
Het |
| Suclg1 |
T |
C |
6: 73,252,326 (GRCm39) |
V323A |
probably damaging |
Het |
| Tas1r2 |
T |
G |
4: 139,396,199 (GRCm39) |
C513G |
probably damaging |
Het |
| Tbc1d23 |
A |
G |
16: 56,992,152 (GRCm39) |
Y603H |
probably damaging |
Het |
| Tbc1d31 |
T |
C |
15: 57,816,192 (GRCm39) |
V642A |
probably damaging |
Het |
| Tle2 |
A |
T |
10: 81,423,168 (GRCm39) |
D486V |
probably damaging |
Het |
| Tmem232 |
A |
G |
17: 65,792,867 (GRCm39) |
I110T |
probably damaging |
Het |
| Tmem39b |
A |
G |
4: 129,586,894 (GRCm39) |
Y106H |
probably damaging |
Het |
| Trpm4 |
T |
G |
7: 44,976,100 (GRCm39) |
N229T |
probably damaging |
Het |
| Tspo |
A |
G |
15: 83,458,007 (GRCm39) |
T120A |
probably benign |
Het |
| Ttc28 |
G |
A |
5: 111,371,851 (GRCm39) |
A767T |
probably damaging |
Het |
| Usp53 |
G |
A |
3: 122,727,652 (GRCm39) |
Q977* |
probably null |
Het |
| Vmn1r215 |
T |
A |
13: 23,260,528 (GRCm39) |
D189E |
probably damaging |
Het |
| Vmn2r12 |
T |
C |
5: 109,233,866 (GRCm39) |
Y782C |
probably benign |
Het |
| Vmn2r54 |
A |
G |
7: 12,349,908 (GRCm39) |
L558P |
probably damaging |
Het |
| Zfp268 |
T |
A |
4: 145,350,628 (GRCm39) |
C688* |
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 |
|
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'- TGCAGTCACACTTGCAAATG -3'
(R):5'- CGTATGGCTGCTAAAATAAACTCCC -3'
Sequencing Primer
(F):5'- TGCAGTCACACTTGCAAATGAACTG -3'
(R):5'- TGGCTGCTAAAATAAACTCCCTACAG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation