Incidental Mutation 'R9708:Or2ab1'
ID |
729911 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Or2ab1
|
Ensembl Gene |
ENSMUSG00000056564 |
Gene Name |
olfactory receptor family 2 subfamily AB member 1 |
Synonyms |
GA_x6K02T2NKPP-822947-822000, Olfr324, MOR102-2 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.072)
|
Stock # |
R9708 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
58488171-58489292 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 58488927 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 229
(R229H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154189
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054683]
[ENSMUST00000214990]
[ENSMUST00000216965]
|
AlphaFold |
Q5NCC7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000054683
AA Change: R237H
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000056457 Gene: ENSMUSG00000056564 AA Change: R237H
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
49 |
324 |
3e-47 |
PFAM |
Pfam:7tm_1
|
59 |
307 |
4.6e-22 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214990
AA Change: R229H
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000216965
AA Change: R235H
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.1%
- 20x: 97.6%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc1 |
A |
T |
16: 14,254,417 (GRCm39) |
N576I |
probably damaging |
Het |
Acss1 |
G |
T |
2: 150,471,752 (GRCm39) |
T334K |
probably damaging |
Het |
Alox5 |
A |
G |
6: 116,392,537 (GRCm39) |
L328P |
probably damaging |
Het |
Armc2 |
A |
T |
10: 41,839,744 (GRCm39) |
M407K |
possibly damaging |
Het |
Asb3 |
A |
T |
11: 31,051,075 (GRCm39) |
I471F |
probably benign |
Het |
Asph |
G |
A |
4: 9,542,233 (GRCm39) |
R335W |
probably damaging |
Het |
B4galnt4 |
A |
G |
7: 140,647,657 (GRCm39) |
E415G |
probably benign |
Het |
Btn2a2 |
G |
A |
13: 23,662,907 (GRCm39) |
P348S |
possibly damaging |
Het |
Catsper2 |
A |
G |
2: 121,237,321 (GRCm39) |
V193A |
possibly damaging |
Het |
Ccdc112 |
G |
A |
18: 46,444,780 (GRCm39) |
A33V |
probably benign |
Het |
Cfap221 |
T |
A |
1: 119,860,619 (GRCm39) |
Y669F |
probably damaging |
Het |
D030056L22Rik |
T |
G |
19: 18,690,776 (GRCm39) |
L30R |
possibly damaging |
Het |
Fanca |
C |
A |
8: 124,001,263 (GRCm39) |
G1091* |
probably null |
Het |
Foxl1 |
A |
G |
8: 121,855,077 (GRCm39) |
D126G |
possibly damaging |
Het |
Gba1 |
T |
C |
3: 89,112,801 (GRCm39) |
S148P |
probably damaging |
Het |
Gem |
G |
A |
4: 11,711,154 (GRCm39) |
R115H |
possibly damaging |
Het |
Gm4924 |
T |
G |
10: 82,214,992 (GRCm39) |
L930R |
unknown |
Het |
Iqgap3 |
C |
A |
3: 88,016,176 (GRCm39) |
F986L |
probably damaging |
Het |
Irx5 |
A |
T |
8: 93,087,118 (GRCm39) |
D350V |
probably benign |
Het |
Kng2 |
G |
T |
16: 22,815,801 (GRCm39) |
P365Q |
probably damaging |
Het |
Lrp4 |
A |
T |
2: 91,342,076 (GRCm39) |
E1896D |
probably benign |
Het |
Lrrk2 |
C |
A |
15: 91,634,482 (GRCm39) |
Y1415* |
probably null |
Het |
Map2k7 |
C |
A |
8: 4,295,806 (GRCm39) |
H429N |
probably benign |
Het |
Mogat1 |
T |
A |
1: 78,488,633 (GRCm39) |
L12Q |
probably damaging |
Het |
Mov10 |
C |
T |
3: 104,704,613 (GRCm39) |
R766H |
probably benign |
Het |
Mthfr |
G |
T |
4: 148,128,978 (GRCm39) |
E225* |
probably null |
Het |
Mtmr11 |
T |
C |
3: 96,076,403 (GRCm39) |
F453L |
possibly damaging |
Het |
Naip2 |
T |
C |
13: 100,298,087 (GRCm39) |
N650D |
probably damaging |
Het |
Nek3 |
C |
T |
8: 22,618,742 (GRCm39) |
G497R |
unknown |
Het |
Nol4 |
G |
T |
18: 22,828,053 (GRCm39) |
A337E |
probably damaging |
Het |
Nrxn2 |
A |
G |
19: 6,581,882 (GRCm39) |
T1606A |
probably benign |
Het |
Odad2 |
G |
T |
18: 7,288,633 (GRCm39) |
T78K |
probably benign |
Het |
Or4a71 |
T |
C |
2: 89,358,214 (GRCm39) |
N180S |
probably benign |
Het |
Or5b124 |
G |
A |
19: 13,610,760 (GRCm39) |
C95Y |
probably damaging |
Het |
Or5p6 |
T |
C |
7: 107,631,259 (GRCm39) |
Y97C |
probably benign |
Het |
Paox |
C |
T |
7: 139,712,359 (GRCm39) |
R197* |
probably null |
Het |
Pcdha8 |
A |
G |
18: 37,125,548 (GRCm39) |
D10G |
probably benign |
Het |
Pde6h |
T |
G |
6: 136,936,359 (GRCm39) |
F34C |
probably damaging |
Het |
Phkb |
T |
G |
8: 86,783,119 (GRCm39) |
S972A |
probably benign |
Het |
Pik3c2g |
T |
A |
6: 139,606,865 (GRCm39) |
M304K |
probably benign |
Het |
Rnf144b |
A |
G |
13: 47,397,912 (GRCm39) |
I281V |
probably damaging |
Het |
Robo2 |
C |
T |
16: 73,770,197 (GRCm39) |
G509E |
possibly damaging |
Het |
Sap30l |
A |
G |
11: 57,696,936 (GRCm39) |
R89G |
probably damaging |
Het |
Scrn2 |
C |
T |
11: 96,922,928 (GRCm39) |
R124W |
probably damaging |
Het |
Shcbp1l |
A |
T |
1: 153,328,011 (GRCm39) |
N574I |
probably damaging |
Het |
Slfn8 |
T |
C |
11: 82,894,267 (GRCm39) |
I791V |
probably benign |
Het |
Stard13 |
C |
T |
5: 150,986,961 (GRCm39) |
S183N |
possibly damaging |
Het |
Tent5a |
A |
G |
9: 85,207,267 (GRCm39) |
M177T |
possibly damaging |
Het |
Tpbg |
A |
G |
9: 85,726,574 (GRCm39) |
N181S |
probably benign |
Het |
Tsc22d1 |
T |
A |
14: 76,654,664 (GRCm39) |
V381D |
possibly damaging |
Het |
Uhrf1 |
A |
G |
17: 56,629,357 (GRCm39) |
D735G |
probably benign |
Het |
Vmn2r13 |
T |
A |
5: 109,322,007 (GRCm39) |
D230V |
probably benign |
Het |
Vwf |
T |
A |
6: 125,634,053 (GRCm39) |
V2116E |
|
Het |
Zfp616 |
G |
A |
11: 73,976,283 (GRCm39) |
G851S |
probably damaging |
Het |
Zranb1 |
G |
T |
7: 132,584,600 (GRCm39) |
E623* |
probably null |
Het |
|
Other mutations in Or2ab1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02121:Or2ab1
|
APN |
11 |
58,488,408 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL02261:Or2ab1
|
APN |
11 |
58,488,630 (GRCm39) |
missense |
probably benign |
0.44 |
IGL02725:Or2ab1
|
APN |
11 |
58,488,690 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03290:Or2ab1
|
APN |
11 |
58,489,149 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03308:Or2ab1
|
APN |
11 |
58,488,525 (GRCm39) |
missense |
probably damaging |
0.98 |
R0531:Or2ab1
|
UTSW |
11 |
58,488,674 (GRCm39) |
missense |
probably benign |
0.01 |
R1463:Or2ab1
|
UTSW |
11 |
58,488,947 (GRCm39) |
missense |
probably damaging |
0.98 |
R1813:Or2ab1
|
UTSW |
11 |
58,489,133 (GRCm39) |
missense |
probably damaging |
1.00 |
R2062:Or2ab1
|
UTSW |
11 |
58,488,396 (GRCm39) |
missense |
probably damaging |
1.00 |
R2063:Or2ab1
|
UTSW |
11 |
58,488,396 (GRCm39) |
missense |
probably damaging |
1.00 |
R2065:Or2ab1
|
UTSW |
11 |
58,488,396 (GRCm39) |
missense |
probably damaging |
1.00 |
R2067:Or2ab1
|
UTSW |
11 |
58,488,396 (GRCm39) |
missense |
probably damaging |
1.00 |
R2068:Or2ab1
|
UTSW |
11 |
58,488,396 (GRCm39) |
missense |
probably damaging |
1.00 |
R4584:Or2ab1
|
UTSW |
11 |
58,488,830 (GRCm39) |
missense |
probably benign |
0.03 |
R6237:Or2ab1
|
UTSW |
11 |
58,488,831 (GRCm39) |
missense |
probably damaging |
0.97 |
R6397:Or2ab1
|
UTSW |
11 |
58,488,338 (GRCm39) |
missense |
probably benign |
0.00 |
R7056:Or2ab1
|
UTSW |
11 |
58,489,044 (GRCm39) |
missense |
probably damaging |
1.00 |
R8048:Or2ab1
|
UTSW |
11 |
58,488,233 (GRCm39) |
missense |
unknown |
|
R8765:Or2ab1
|
UTSW |
11 |
58,488,785 (GRCm39) |
missense |
possibly damaging |
0.87 |
R9044:Or2ab1
|
UTSW |
11 |
58,489,126 (GRCm39) |
missense |
possibly damaging |
0.78 |
Z1186:Or2ab1
|
UTSW |
11 |
58,488,491 (GRCm39) |
missense |
possibly damaging |
0.91 |
Z1186:Or2ab1
|
UTSW |
11 |
58,488,776 (GRCm39) |
missense |
probably benign |
|
Z1186:Or2ab1
|
UTSW |
11 |
58,488,344 (GRCm39) |
missense |
probably benign |
0.02 |
Z1186:Or2ab1
|
UTSW |
11 |
58,488,356 (GRCm39) |
missense |
probably benign |
|
Z1187:Or2ab1
|
UTSW |
11 |
58,488,776 (GRCm39) |
missense |
probably benign |
|
Z1187:Or2ab1
|
UTSW |
11 |
58,488,344 (GRCm39) |
missense |
probably benign |
0.02 |
Z1187:Or2ab1
|
UTSW |
11 |
58,488,356 (GRCm39) |
missense |
probably benign |
|
Z1187:Or2ab1
|
UTSW |
11 |
58,488,491 (GRCm39) |
missense |
possibly damaging |
0.91 |
Z1188:Or2ab1
|
UTSW |
11 |
58,488,491 (GRCm39) |
missense |
possibly damaging |
0.91 |
Z1188:Or2ab1
|
UTSW |
11 |
58,488,356 (GRCm39) |
missense |
probably benign |
|
Z1188:Or2ab1
|
UTSW |
11 |
58,488,344 (GRCm39) |
missense |
probably benign |
0.02 |
Z1188:Or2ab1
|
UTSW |
11 |
58,488,776 (GRCm39) |
missense |
probably benign |
|
Z1189:Or2ab1
|
UTSW |
11 |
58,488,356 (GRCm39) |
missense |
probably benign |
|
Z1189:Or2ab1
|
UTSW |
11 |
58,488,344 (GRCm39) |
missense |
probably benign |
0.02 |
Z1189:Or2ab1
|
UTSW |
11 |
58,488,776 (GRCm39) |
missense |
probably benign |
|
Z1189:Or2ab1
|
UTSW |
11 |
58,488,491 (GRCm39) |
missense |
possibly damaging |
0.91 |
Z1190:Or2ab1
|
UTSW |
11 |
58,488,491 (GRCm39) |
missense |
possibly damaging |
0.91 |
Z1190:Or2ab1
|
UTSW |
11 |
58,488,356 (GRCm39) |
missense |
probably benign |
|
Z1190:Or2ab1
|
UTSW |
11 |
58,488,344 (GRCm39) |
missense |
probably benign |
0.02 |
Z1190:Or2ab1
|
UTSW |
11 |
58,488,776 (GRCm39) |
missense |
probably benign |
|
Z1191:Or2ab1
|
UTSW |
11 |
58,488,491 (GRCm39) |
missense |
possibly damaging |
0.91 |
Z1191:Or2ab1
|
UTSW |
11 |
58,488,356 (GRCm39) |
missense |
probably benign |
|
Z1191:Or2ab1
|
UTSW |
11 |
58,488,344 (GRCm39) |
missense |
probably benign |
0.02 |
Z1191:Or2ab1
|
UTSW |
11 |
58,488,776 (GRCm39) |
missense |
probably benign |
|
Z1192:Or2ab1
|
UTSW |
11 |
58,488,491 (GRCm39) |
missense |
possibly damaging |
0.91 |
Z1192:Or2ab1
|
UTSW |
11 |
58,488,356 (GRCm39) |
missense |
probably benign |
|
Z1192:Or2ab1
|
UTSW |
11 |
58,488,344 (GRCm39) |
missense |
probably benign |
0.02 |
Z1192:Or2ab1
|
UTSW |
11 |
58,488,776 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACCCACTGAGGTACCTTCTC -3'
(R):5'- ACACAGAGATCAGTTTGTCTCCC -3'
Sequencing Primer
(F):5'- GAGGTACCTTCTCATCATGAGCTG -3'
(R):5'- TCTCCCTCGGCGGAGTAAAG -3'
|
Posted On |
2022-10-06 |