Incidental Mutation 'R4230:Or4k37'
| ID |
320768 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or4k37
|
| Ensembl Gene |
ENSMUSG00000095156 |
| Gene Name |
olfactory receptor family 4 subfamily K member 37 |
| Synonyms |
GA_x6K02T2Q125-72379864-72380781, MOR248-18, MOR248-14P, Olfr1281 |
| MMRRC Submission |
041049-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R4230 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
111158766-111159683 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 111159475 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 237
(L237R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151304
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090326]
[ENSMUST00000208176]
[ENSMUST00000213551]
|
| AlphaFold |
Q7TQY6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090326
AA Change: L237R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000087798
Gene: ENSMUSG00000095156
AA Change: L237R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
304 |
4.8e-48 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
301 |
2.6e-6 |
PFAM |
|
Pfam:7tm_1
|
41 |
287 |
4.8e-21 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208176
AA Change: L237R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213551
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Alg11 |
T |
A |
8: 22,555,534 (GRCm39) |
I223N |
probably damaging |
Het |
| Ankrd26 |
G |
C |
6: 118,536,349 (GRCm39) |
|
probably null |
Het |
| Apbb1 |
T |
C |
7: 105,216,891 (GRCm39) |
D264G |
probably damaging |
Het |
| Arhgap32 |
T |
C |
9: 32,168,770 (GRCm39) |
Y918H |
probably benign |
Het |
| Astn2 |
T |
G |
4: 65,829,919 (GRCm39) |
T584P |
probably damaging |
Het |
| Atxn7 |
G |
A |
14: 14,100,381 (GRCm38) |
S689N |
probably benign |
Het |
| Cacna1h |
T |
C |
17: 25,606,837 (GRCm39) |
N873S |
probably damaging |
Het |
| Cadps |
T |
A |
14: 12,488,987 (GRCm38) |
I857F |
probably damaging |
Het |
| Cfap119 |
T |
A |
7: 127,186,002 (GRCm39) |
M102L |
probably benign |
Het |
| Cog6 |
T |
C |
3: 52,900,229 (GRCm39) |
T511A |
probably benign |
Het |
| Dppa3 |
A |
T |
6: 122,606,291 (GRCm39) |
N118I |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,234,909 (GRCm39) |
N3663D |
probably benign |
Het |
| Eif1ad14 |
A |
T |
12: 87,886,567 (GRCm39) |
S21T |
unknown |
Het |
| Eme1 |
G |
A |
11: 94,538,818 (GRCm39) |
T354M |
possibly damaging |
Het |
| Gm10735 |
T |
C |
13: 113,177,743 (GRCm39) |
|
probably benign |
Het |
| Ifi44l |
A |
T |
3: 151,468,514 (GRCm39) |
C5* |
probably null |
Het |
| Itln1 |
G |
A |
1: 171,362,375 (GRCm39) |
T2I |
probably benign |
Het |
| Jam2 |
T |
A |
16: 84,618,180 (GRCm39) |
M309K |
possibly damaging |
Het |
| Kcnk5 |
C |
A |
14: 20,194,852 (GRCm39) |
C162F |
probably damaging |
Het |
| Metrn |
A |
G |
17: 26,015,915 (GRCm39) |
|
probably benign |
Het |
| Muc5b |
T |
A |
7: 141,417,259 (GRCm39) |
Y3402N |
probably benign |
Het |
| Ncoa7 |
A |
T |
10: 30,574,253 (GRCm39) |
|
probably null |
Het |
| Nxpe4 |
A |
G |
9: 48,304,122 (GRCm39) |
R70G |
possibly damaging |
Het |
| Onecut3 |
T |
C |
10: 80,349,793 (GRCm39) |
I429T |
probably damaging |
Het |
| Or2n1 |
A |
C |
17: 38,486,772 (GRCm39) |
I266L |
possibly damaging |
Het |
| Or2z9 |
T |
C |
8: 72,854,188 (GRCm39) |
Y195H |
probably damaging |
Het |
| Or52e18 |
A |
T |
7: 104,609,801 (GRCm39) |
I46N |
probably benign |
Het |
| Pds5a |
A |
G |
5: 65,787,329 (GRCm39) |
S858P |
possibly damaging |
Het |
| Phf11c |
A |
T |
14: 59,630,516 (GRCm39) |
V63E |
probably benign |
Het |
| Rasa3 |
A |
G |
8: 13,620,264 (GRCm39) |
F802L |
possibly damaging |
Het |
| Sec24b |
G |
T |
3: 129,834,368 (GRCm39) |
Q141K |
probably benign |
Het |
| Sec61a1 |
A |
T |
6: 88,492,413 (GRCm39) |
|
probably null |
Het |
| Slc45a3 |
T |
A |
1: 131,909,399 (GRCm39) |
L532Q |
probably damaging |
Het |
| Slc46a2 |
T |
C |
4: 59,914,048 (GRCm39) |
I292V |
probably benign |
Het |
| Smg1 |
C |
T |
7: 117,747,956 (GRCm39) |
|
probably null |
Het |
| Spag6 |
T |
A |
2: 18,720,449 (GRCm39) |
|
probably null |
Het |
| Spi1 |
T |
C |
2: 90,945,680 (GRCm39) |
F254L |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,467,868 (GRCm39) |
S4272P |
probably benign |
Het |
| Tgm5 |
T |
C |
2: 120,901,216 (GRCm39) |
T292A |
probably damaging |
Het |
| Tmem229a |
T |
A |
6: 24,954,831 (GRCm39) |
I308F |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,554,464 (GRCm39) |
I30784V |
possibly damaging |
Het |
| Urod |
T |
A |
4: 116,849,880 (GRCm39) |
T173S |
probably benign |
Het |
| Vmn1r223 |
A |
T |
13: 23,433,585 (GRCm39) |
M60L |
probably benign |
Het |
| Vmn2r2 |
T |
A |
3: 64,041,912 (GRCm39) |
I268L |
probably benign |
Het |
| Vwa8 |
C |
T |
14: 79,320,292 (GRCm39) |
T1101M |
probably benign |
Het |
| Zc3h12c |
T |
A |
9: 52,055,728 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Or4k37 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02426:Or4k37
|
APN |
2 |
111,158,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02550:Or4k37
|
APN |
2 |
111,158,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02553:Or4k37
|
APN |
2 |
111,159,333 (GRCm39) |
missense |
probably benign |
|
|
IGL02719:Or4k37
|
APN |
2 |
111,159,590 (GRCm39) |
nonsense |
probably null |
|
|
IGL02750:Or4k37
|
APN |
2 |
111,159,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02873:Or4k37
|
APN |
2 |
111,159,217 (GRCm39) |
missense |
probably benign |
|
|
IGL03252:Or4k37
|
APN |
2 |
111,159,125 (GRCm39) |
nonsense |
probably null |
|
|
IGL03375:Or4k37
|
APN |
2 |
111,159,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0055:Or4k37
|
UTSW |
2 |
111,158,870 (GRCm39) |
nonsense |
probably null |
|
|
R0368:Or4k37
|
UTSW |
2 |
111,159,132 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0497:Or4k37
|
UTSW |
2 |
111,159,175 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0505:Or4k37
|
UTSW |
2 |
111,159,673 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1557:Or4k37
|
UTSW |
2 |
111,158,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1619:Or4k37
|
UTSW |
2 |
111,159,306 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1691:Or4k37
|
UTSW |
2 |
111,159,198 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2286:Or4k37
|
UTSW |
2 |
111,159,252 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4274:Or4k37
|
UTSW |
2 |
111,159,160 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4305:Or4k37
|
UTSW |
2 |
111,159,643 (GRCm39) |
missense |
probably null |
0.82 |
|
R4495:Or4k37
|
UTSW |
2 |
111,159,365 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5307:Or4k37
|
UTSW |
2 |
111,158,741 (GRCm39) |
splice site |
probably null |
|
|
R6115:Or4k37
|
UTSW |
2 |
111,159,558 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6615:Or4k37
|
UTSW |
2 |
111,159,457 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7169:Or4k37
|
UTSW |
2 |
111,158,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7601:Or4k37
|
UTSW |
2 |
111,159,565 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8267:Or4k37
|
UTSW |
2 |
111,159,160 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8447:Or4k37
|
UTSW |
2 |
111,159,307 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8749:Or4k37
|
UTSW |
2 |
111,158,817 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8795:Or4k37
|
UTSW |
2 |
111,158,881 (GRCm39) |
nonsense |
probably null |
|
|
R9269:Or4k37
|
UTSW |
2 |
111,159,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9598:Or4k37
|
UTSW |
2 |
111,159,633 (GRCm39) |
nonsense |
probably null |
|
|
R9679:Or4k37
|
UTSW |
2 |
111,159,345 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Or4k37
|
UTSW |
2 |
111,159,170 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGACCTAGAGTGATAGACAGC -3'
(R):5'- CAGTTAAGAATAGCTTGCAGAGATG -3'
Sequencing Primer
(F):5'- GACCTAGAGTGATAGACAGCTTTTTC -3'
(R):5'- TCTGAATTCACATGTGATTTGTCAG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation