Incidental Mutation 'R2760:Or7a42'
| ID |
254009 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or7a42
|
| Ensembl Gene |
ENSMUSG00000094080 |
| Gene Name |
olfactory receptor family 7 subfamily A member 42 |
| Synonyms |
GA_x6K02T2QGN0-2857086-2856154, MOR139-5P, Olfr8 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.131)
|
| Stock # |
R2760 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
78791041-78791973 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 78791876 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 279
(Y279F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148856
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081571]
[ENSMUST00000203851]
[ENSMUST00000214952]
|
| AlphaFold |
Q60892 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081571
AA Change: Y279F
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000080282
Gene: ENSMUSG00000094080
AA Change: Y279F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
32 |
309 |
1.3e-47 |
PFAM |
|
Pfam:7tm_1
|
42 |
291 |
3e-20 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000203851
AA Change: Y279F
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000144916
Gene: ENSMUSG00000094080
AA Change: Y279F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
32 |
309 |
1.3e-47 |
PFAM |
|
Pfam:7tm_1
|
42 |
291 |
3e-20 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214952
AA Change: Y279F
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216819
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.8%
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg11 |
C |
A |
8: 22,558,095 (GRCm39) |
A469E |
probably benign |
Het |
| Atp8a2 |
C |
T |
14: 60,097,641 (GRCm39) |
V796I |
probably benign |
Het |
| Btnl1 |
T |
G |
17: 34,600,012 (GRCm39) |
W172G |
probably damaging |
Het |
| Ceacam1 |
T |
C |
7: 25,176,899 (GRCm39) |
T21A |
probably damaging |
Het |
| Dipk1b |
A |
G |
2: 26,525,837 (GRCm39) |
H257R |
probably benign |
Het |
| Frmpd1 |
A |
C |
4: 45,244,667 (GRCm39) |
I119L |
possibly damaging |
Het |
| Haus6 |
A |
T |
4: 86,501,413 (GRCm39) |
Y819* |
probably null |
Het |
| Ildr2 |
A |
G |
1: 166,131,175 (GRCm39) |
R344G |
probably damaging |
Het |
| Irs1 |
T |
C |
1: 82,266,291 (GRCm39) |
I642V |
probably damaging |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Lum |
T |
C |
10: 97,404,633 (GRCm39) |
V176A |
probably benign |
Het |
| Nobox |
A |
G |
6: 43,281,040 (GRCm39) |
L478P |
probably damaging |
Het |
| Or10g6 |
T |
A |
9: 39,933,692 (GRCm39) |
M1K |
probably null |
Het |
| Or4a67 |
T |
A |
2: 88,597,980 (GRCm39) |
R226S |
possibly damaging |
Het |
| Or55b4 |
T |
C |
7: 102,133,583 (GRCm39) |
H248R |
probably damaging |
Het |
| Or6b2b |
A |
G |
1: 92,418,802 (GRCm39) |
V225A |
probably damaging |
Het |
| Rtn1 |
A |
T |
12: 72,455,136 (GRCm39) |
C64S |
probably benign |
Het |
| Senp6 |
A |
G |
9: 80,029,260 (GRCm39) |
Y285C |
probably null |
Het |
| Slco1a5 |
C |
A |
6: 142,195,997 (GRCm39) |
M335I |
probably benign |
Het |
| Spg11 |
A |
T |
2: 121,927,840 (GRCm39) |
I648K |
probably damaging |
Het |
| Ube3d |
T |
C |
9: 86,305,027 (GRCm39) |
I272V |
probably benign |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
| Utrn |
A |
G |
10: 12,566,622 (GRCm39) |
V1180A |
probably damaging |
Het |
| Vill |
T |
C |
9: 118,895,950 (GRCm39) |
|
probably null |
Het |
| Vmn2r101 |
T |
C |
17: 19,809,901 (GRCm39) |
I229T |
probably benign |
Het |
| Zbtb8b |
A |
T |
4: 129,326,293 (GRCm39) |
L291M |
probably benign |
Het |
|
| Other mutations in Or7a42 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01022:Or7a42
|
APN |
10 |
78,791,188 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL01480:Or7a42
|
APN |
10 |
78,791,978 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02505:Or7a42
|
APN |
10 |
78,791,767 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02543:Or7a42
|
APN |
10 |
78,791,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03323:Or7a42
|
APN |
10 |
78,791,434 (GRCm39) |
missense |
probably benign |
|
|
PIT4466001:Or7a42
|
UTSW |
10 |
78,791,676 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1496:Or7a42
|
UTSW |
10 |
78,791,682 (GRCm39) |
missense |
probably benign |
0.41 |
|
R1754:Or7a42
|
UTSW |
10 |
78,791,531 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1878:Or7a42
|
UTSW |
10 |
78,791,639 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4202:Or7a42
|
UTSW |
10 |
78,791,129 (GRCm39) |
missense |
probably benign |
|
|
R4206:Or7a42
|
UTSW |
10 |
78,791,117 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4517:Or7a42
|
UTSW |
10 |
78,791,877 (GRCm39) |
nonsense |
probably null |
|
|
R4613:Or7a42
|
UTSW |
10 |
78,791,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4799:Or7a42
|
UTSW |
10 |
78,791,931 (GRCm39) |
missense |
probably null |
0.92 |
|
R4979:Or7a42
|
UTSW |
10 |
78,791,766 (GRCm39) |
nonsense |
probably null |
|
|
R5008:Or7a42
|
UTSW |
10 |
78,791,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5700:Or7a42
|
UTSW |
10 |
78,791,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5876:Or7a42
|
UTSW |
10 |
78,791,191 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6439:Or7a42
|
UTSW |
10 |
78,791,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6930:Or7a42
|
UTSW |
10 |
78,791,615 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7110:Or7a42
|
UTSW |
10 |
78,791,284 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7405:Or7a42
|
UTSW |
10 |
78,791,531 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7524:Or7a42
|
UTSW |
10 |
78,791,325 (GRCm39) |
nonsense |
probably null |
|
|
R8198:Or7a42
|
UTSW |
10 |
78,791,558 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9227:Or7a42
|
UTSW |
10 |
78,791,929 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9230:Or7a42
|
UTSW |
10 |
78,791,929 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Z1176:Or7a42
|
UTSW |
10 |
78,791,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTACCTGTTCTATTGGCAGTC -3'
(R):5'- ATAGTCCCAATCTCTGGCTCTG -3'
Sequencing Primer
(F):5'- ATTGGCAGTCATTTCCTTCAGTAG -3'
(R):5'- GCAGCTTCACAGTCTGCAATAATGG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation