Incidental Mutation 'R1555:Or6d14'
| ID |
170221 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or6d14
|
| Ensembl Gene |
ENSMUSG00000051046 |
| Gene Name |
olfactory receptor family 6 subfamily D member 14 |
| Synonyms |
Olfr214, GA_x54KRFPKN04-58190962-58191900, MOR119-1 |
| MMRRC Submission |
039594-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.240)
|
| Stock # |
R1555 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
116533388-116534350 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 116533787 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 134
(I134F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150737
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060204]
[ENSMUST00000122096]
[ENSMUST00000203867]
[ENSMUST00000214699]
[ENSMUST00000215846]
[ENSMUST00000217313]
|
| AlphaFold |
Q8VG27 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060204
AA Change: I134F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000052730
Gene: ENSMUSG00000051046
AA Change: I134F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
39 |
316 |
4.7e-47 |
PFAM |
|
Pfam:7tm_1
|
49 |
298 |
5.9e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122096
|
| SMART Domains |
Protein: ENSMUSP00000145194
Gene: ENSMUSG00000107906
| Domain | Start | End | E-Value | Type |
|---|
|
DEXDc
|
57 |
254 |
2.4e-59 |
SMART |
|
HELICc
|
291 |
372 |
6.6e-38 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000203867
AA Change: I134F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000145465
Gene: ENSMUSG00000051046
AA Change: I134F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
39 |
316 |
4.7e-47 |
PFAM |
|
Pfam:7tm_1
|
49 |
298 |
5.9e-17 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214699
AA Change: I134F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215846
AA Change: I134F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217313
AA Change: I134F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 92.0%
|
| Validation Efficiency |
96% (43/45) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace |
A |
G |
11: 105,865,727 (GRCm39) |
|
probably null |
Het |
| Adamts1 |
T |
A |
16: 85,594,776 (GRCm39) |
T358S |
probably benign |
Het |
| Ate1 |
A |
T |
7: 130,110,821 (GRCm39) |
F169I |
probably benign |
Het |
| Cdkl4 |
T |
A |
17: 80,851,043 (GRCm39) |
|
probably benign |
Het |
| Clcnkb |
T |
C |
4: 141,139,050 (GRCm39) |
|
probably null |
Het |
| Col6a4 |
C |
T |
9: 105,878,085 (GRCm39) |
R1964Q |
possibly damaging |
Het |
| Dcakd |
C |
T |
11: 102,891,039 (GRCm39) |
V17I |
probably damaging |
Het |
| Dcdc5 |
T |
G |
2: 106,214,480 (GRCm39) |
|
noncoding transcript |
Het |
| Erc2 |
T |
A |
14: 27,733,622 (GRCm39) |
D557E |
probably damaging |
Het |
| Grid2 |
A |
T |
6: 64,406,668 (GRCm39) |
D676V |
possibly damaging |
Het |
| Hebp2 |
G |
T |
10: 18,420,163 (GRCm39) |
T90K |
possibly damaging |
Het |
| Igkv10-96 |
C |
T |
6: 68,609,365 (GRCm39) |
|
probably benign |
Het |
| Mier3 |
T |
A |
13: 111,844,893 (GRCm39) |
N248K |
probably damaging |
Het |
| Myo5b |
A |
T |
18: 74,702,853 (GRCm39) |
I15F |
probably damaging |
Het |
| Neurl3 |
A |
G |
1: 36,305,613 (GRCm39) |
V198A |
probably benign |
Het |
| Notch2 |
C |
A |
3: 98,038,656 (GRCm39) |
N1266K |
possibly damaging |
Het |
| Nup107 |
A |
G |
10: 117,587,395 (GRCm39) |
|
probably benign |
Het |
| Or52e8b |
T |
C |
7: 104,673,729 (GRCm39) |
I153V |
probably benign |
Het |
| Phf3 |
G |
T |
1: 30,844,958 (GRCm39) |
H1334N |
possibly damaging |
Het |
| Phyhd1 |
T |
A |
2: 30,164,718 (GRCm39) |
I100N |
probably damaging |
Het |
| Rad21l |
T |
A |
2: 151,500,348 (GRCm39) |
T224S |
probably benign |
Het |
| Rxra |
C |
T |
2: 27,638,690 (GRCm39) |
A231V |
probably benign |
Het |
| Sac3d1 |
T |
C |
19: 6,168,435 (GRCm39) |
D61G |
probably damaging |
Het |
| Sbf1 |
A |
G |
15: 89,189,279 (GRCm39) |
Y481H |
probably damaging |
Het |
| Spg11 |
T |
C |
2: 121,927,858 (GRCm39) |
E642G |
probably damaging |
Het |
| Spta1 |
A |
G |
1: 174,006,315 (GRCm39) |
Y159C |
probably damaging |
Het |
| Sry |
C |
G |
Y: 2,662,975 (GRCm39) |
Q228H |
unknown |
Het |
| Tedc1 |
G |
T |
12: 113,120,117 (GRCm39) |
|
probably benign |
Het |
| Tmem200a |
A |
T |
10: 25,869,782 (GRCm39) |
D162E |
probably damaging |
Het |
| Tmprss11e |
T |
A |
5: 86,863,447 (GRCm39) |
Q206L |
probably damaging |
Het |
| Tpra1 |
A |
G |
6: 88,887,185 (GRCm39) |
N175S |
probably damaging |
Het |
| Ttll10 |
T |
C |
4: 156,119,596 (GRCm39) |
E601G |
probably benign |
Het |
| Ttll6 |
G |
T |
11: 96,036,408 (GRCm39) |
D346Y |
probably damaging |
Het |
| U2surp |
A |
G |
9: 95,348,630 (GRCm39) |
V874A |
probably damaging |
Het |
| Vwa5b1 |
T |
C |
4: 138,332,788 (GRCm39) |
K258R |
probably benign |
Het |
| Xkr6 |
A |
G |
14: 64,056,374 (GRCm39) |
Y95C |
unknown |
Het |
| Zfp180 |
T |
C |
7: 23,800,999 (GRCm39) |
|
probably benign |
Het |
| Zfp90 |
A |
G |
8: 107,150,727 (GRCm39) |
T147A |
probably benign |
Het |
|
| Other mutations in Or6d14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00951:Or6d14
|
APN |
6 |
116,534,027 (GRCm39) |
missense |
probably benign |
|
|
IGL01837:Or6d14
|
APN |
6 |
116,533,807 (GRCm39) |
nonsense |
probably null |
|
|
IGL02523:Or6d14
|
APN |
6 |
116,534,054 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0027:Or6d14
|
UTSW |
6 |
116,533,910 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0616:Or6d14
|
UTSW |
6 |
116,533,889 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1121:Or6d14
|
UTSW |
6 |
116,534,190 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1691:Or6d14
|
UTSW |
6 |
116,533,538 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2196:Or6d14
|
UTSW |
6 |
116,533,578 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3080:Or6d14
|
UTSW |
6 |
116,534,178 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5416:Or6d14
|
UTSW |
6 |
116,534,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5706:Or6d14
|
UTSW |
6 |
116,534,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6848:Or6d14
|
UTSW |
6 |
116,533,736 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7425:Or6d14
|
UTSW |
6 |
116,533,398 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8059:Or6d14
|
UTSW |
6 |
116,533,434 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8349:Or6d14
|
UTSW |
6 |
116,534,289 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8449:Or6d14
|
UTSW |
6 |
116,534,289 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8551:Or6d14
|
UTSW |
6 |
116,534,289 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8552:Or6d14
|
UTSW |
6 |
116,534,289 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8553:Or6d14
|
UTSW |
6 |
116,534,289 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8555:Or6d14
|
UTSW |
6 |
116,534,289 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8988:Or6d14
|
UTSW |
6 |
116,534,255 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9720:Or6d14
|
UTSW |
6 |
116,534,016 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGACCCCGATGTACTTCTTCCTCAG -3'
(R):5'- GGCCATGCTTTCAAGAGATTTGGTG -3'
Sequencing Primer
(F):5'- AGTTTCTCCTTTTGCGAGTGC -3'
(R):5'- TCAAGAGATTTGGTGTCTGAACAG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation