Incidental Mutation 'R5042:Il17rd'
| ID |
393268 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il17rd
|
| Ensembl Gene |
ENSMUSG00000040717 |
| Gene Name |
interleukin 17 receptor D |
| Synonyms |
2810004A10Rik, Sef-S, Sef |
| MMRRC Submission |
042632-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5042 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
26760990-26829243 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 26817998 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 229
(V229E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153543
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035336]
[ENSMUST00000225146]
[ENSMUST00000226105]
|
| AlphaFold |
Q8JZL1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035336
AA Change: V373E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000036076
Gene: ENSMUSG00000040717
AA Change: V373E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
26 |
36 |
N/A |
INTRINSIC |
|
Pfam:IL17R_D_N
|
48 |
169 |
2.7e-68 |
PFAM |
|
Pfam:SEFIR
|
356 |
511 |
9.6e-56 |
PFAM |
|
low complexity region
|
667 |
684 |
N/A |
INTRINSIC |
|
low complexity region
|
688 |
705 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225146
AA Change: V229E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225829
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000226105
AA Change: V229E
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 89.8%
|
| Validation Efficiency |
100% (57/57) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane protein belonging to the interleukin-17 receptor (IL-17R) protein family. The encoded protein is a component of the interleukin-17 receptor signaling complex, and the interaction between this protein and IL-17R does not require the interleukin. The gene product also affects fibroblast growth factor signaling, inhibiting or stimulating growth through MAPK/ERK signaling. Alternate splicing generates multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and show no obvious phenotype. A subset of mice homozygous for a gene-trapped allele display cochlear nucleus defects and abnormal auditory brainstem responses. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
T |
A |
7: 29,273,927 (GRCm39) |
|
noncoding transcript |
Het |
| 4933413J09Rik |
C |
A |
14: 26,097,436 (GRCm39) |
|
noncoding transcript |
Het |
| Aldh1a2 |
A |
G |
9: 71,192,286 (GRCm39) |
I413V |
possibly damaging |
Het |
| Alpk2 |
C |
T |
18: 65,483,579 (GRCm39) |
W143* |
probably null |
Het |
| Anpep |
G |
T |
7: 79,489,217 (GRCm39) |
N318K |
probably benign |
Het |
| Art5 |
A |
T |
7: 101,748,672 (GRCm39) |
L10H |
probably damaging |
Het |
| Atg2b |
T |
G |
12: 105,587,521 (GRCm39) |
H1981P |
probably benign |
Het |
| B3gnt3 |
T |
C |
8: 72,145,532 (GRCm39) |
T279A |
probably damaging |
Het |
| Bmp10 |
G |
T |
6: 87,411,039 (GRCm39) |
E277D |
probably damaging |
Het |
| Ccdc180 |
A |
G |
4: 45,916,255 (GRCm39) |
T191A |
probably damaging |
Het |
| Dars2 |
T |
A |
1: 160,872,664 (GRCm39) |
|
probably benign |
Het |
| F5 |
T |
A |
1: 164,047,020 (GRCm39) |
I2160N |
probably damaging |
Het |
| Fndc7 |
A |
T |
3: 108,770,102 (GRCm39) |
V608D |
probably damaging |
Het |
| Gad1-ps |
A |
T |
10: 99,281,516 (GRCm39) |
|
noncoding transcript |
Het |
| Gbp2b |
A |
G |
3: 142,317,224 (GRCm39) |
K527E |
probably benign |
Het |
| Gm10719 |
T |
A |
9: 3,018,970 (GRCm39) |
F72I |
probably damaging |
Het |
| Hes3 |
T |
A |
4: 152,371,500 (GRCm39) |
S150C |
possibly damaging |
Het |
| Hp1bp3 |
T |
A |
4: 137,949,419 (GRCm39) |
M1K |
probably null |
Het |
| Iqch |
A |
G |
9: 63,403,516 (GRCm39) |
M634T |
possibly damaging |
Het |
| Magel2 |
C |
T |
7: 62,029,354 (GRCm39) |
R753W |
unknown |
Het |
| Med26 |
A |
G |
8: 73,250,919 (GRCm39) |
V60A |
probably damaging |
Het |
| Myo1d |
T |
A |
11: 80,448,347 (GRCm39) |
D926V |
probably damaging |
Het |
| Nat1 |
T |
G |
8: 67,944,228 (GRCm39) |
D201E |
probably benign |
Het |
| Nav3 |
G |
T |
10: 109,605,129 (GRCm39) |
S981R |
probably benign |
Het |
| Nbn |
C |
A |
4: 15,981,446 (GRCm39) |
L513M |
probably benign |
Het |
| Nfatc3 |
T |
C |
8: 106,834,757 (GRCm39) |
V701A |
probably benign |
Het |
| Nlrp9a |
A |
G |
7: 26,270,703 (GRCm39) |
D911G |
probably damaging |
Het |
| Npr2 |
A |
T |
4: 43,647,002 (GRCm39) |
I712F |
probably damaging |
Het |
| Oplah |
G |
A |
15: 76,189,909 (GRCm39) |
R235* |
probably null |
Het |
| Or10a48 |
A |
G |
7: 108,424,678 (GRCm39) |
I176T |
possibly damaging |
Het |
| Pcdha11 |
T |
A |
18: 37,144,649 (GRCm39) |
Y247N |
probably damaging |
Het |
| Pcdhga9 |
A |
G |
18: 37,870,630 (GRCm39) |
Y153C |
probably damaging |
Het |
| Pkd1 |
A |
T |
17: 24,788,861 (GRCm39) |
D873V |
probably benign |
Het |
| Pnpla1 |
A |
G |
17: 29,100,021 (GRCm39) |
N296S |
probably benign |
Het |
| Ppfia3 |
A |
G |
7: 44,991,765 (GRCm39) |
V839A |
probably damaging |
Het |
| Ppm1j |
A |
T |
3: 104,690,036 (GRCm39) |
Q148L |
probably null |
Het |
| Prune2 |
T |
A |
19: 17,097,161 (GRCm39) |
N888K |
possibly damaging |
Het |
| Sh3bgr |
A |
G |
16: 96,007,066 (GRCm39) |
D12G |
probably benign |
Het |
| Snph |
T |
A |
2: 151,442,977 (GRCm39) |
I35F |
possibly damaging |
Het |
| Spag17 |
A |
T |
3: 99,979,465 (GRCm39) |
D1442V |
probably damaging |
Het |
| Spidr |
T |
C |
16: 15,936,767 (GRCm39) |
T113A |
probably benign |
Het |
| St13 |
A |
T |
15: 81,249,693 (GRCm39) |
N349K |
probably damaging |
Het |
| Ttll6 |
C |
T |
11: 96,045,430 (GRCm39) |
S549F |
possibly damaging |
Het |
| Uap1l1 |
A |
T |
2: 25,252,097 (GRCm39) |
S473T |
possibly damaging |
Het |
| Vmn1r54 |
T |
C |
6: 90,246,422 (GRCm39) |
V112A |
possibly damaging |
Het |
| Vmn2r57 |
G |
A |
7: 41,078,086 (GRCm39) |
S124L |
probably benign |
Het |
| Wasf2 |
A |
T |
4: 132,903,875 (GRCm39) |
R28W |
probably benign |
Het |
| Wwp2 |
T |
A |
8: 108,275,117 (GRCm39) |
N417K |
possibly damaging |
Het |
| Zc3h13 |
A |
T |
14: 75,576,836 (GRCm39) |
D1648V |
probably damaging |
Het |
|
| Other mutations in Il17rd |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01349:Il17rd
|
APN |
14 |
26,817,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02274:Il17rd
|
APN |
14 |
26,821,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02732:Il17rd
|
APN |
14 |
26,809,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03118:Il17rd
|
APN |
14 |
26,815,352 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL03175:Il17rd
|
APN |
14 |
26,821,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4304:Il17rd
|
UTSW |
14 |
26,804,637 (GRCm39) |
utr 5 prime |
probably benign |
|
|
FR4449:Il17rd
|
UTSW |
14 |
26,804,635 (GRCm39) |
utr 5 prime |
probably benign |
|
|
FR4737:Il17rd
|
UTSW |
14 |
26,804,637 (GRCm39) |
utr 5 prime |
probably benign |
|
|
FR4976:Il17rd
|
UTSW |
14 |
26,804,634 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R0063:Il17rd
|
UTSW |
14 |
26,804,691 (GRCm39) |
nonsense |
probably null |
|
|
R0063:Il17rd
|
UTSW |
14 |
26,804,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0076:Il17rd
|
UTSW |
14 |
26,816,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0452:Il17rd
|
UTSW |
14 |
26,813,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1540:Il17rd
|
UTSW |
14 |
26,821,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1760:Il17rd
|
UTSW |
14 |
26,813,763 (GRCm39) |
nonsense |
probably null |
|
|
R2192:Il17rd
|
UTSW |
14 |
26,816,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2886:Il17rd
|
UTSW |
14 |
26,821,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3688:Il17rd
|
UTSW |
14 |
26,761,105 (GRCm39) |
missense |
probably null |
0.14 |
|
R4534:Il17rd
|
UTSW |
14 |
26,818,019 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5410:Il17rd
|
UTSW |
14 |
26,817,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5528:Il17rd
|
UTSW |
14 |
26,810,024 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5829:Il17rd
|
UTSW |
14 |
26,814,042 (GRCm39) |
splice site |
probably null |
|
|
R5919:Il17rd
|
UTSW |
14 |
26,818,001 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6305:Il17rd
|
UTSW |
14 |
26,817,899 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6739:Il17rd
|
UTSW |
14 |
26,821,488 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R6829:Il17rd
|
UTSW |
14 |
26,809,379 (GRCm39) |
nonsense |
probably null |
|
|
R7301:Il17rd
|
UTSW |
14 |
26,798,348 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7336:Il17rd
|
UTSW |
14 |
26,809,503 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7521:Il17rd
|
UTSW |
14 |
26,816,823 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7649:Il17rd
|
UTSW |
14 |
26,761,167 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7741:Il17rd
|
UTSW |
14 |
26,822,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7814:Il17rd
|
UTSW |
14 |
26,822,074 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8363:Il17rd
|
UTSW |
14 |
26,813,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8545:Il17rd
|
UTSW |
14 |
26,813,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8889:Il17rd
|
UTSW |
14 |
26,821,930 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Z1177:Il17rd
|
UTSW |
14 |
26,822,218 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGATGTCAGCTGCTCCTTTTGG -3'
(R):5'- AGACAGACTCTGGTTTGGAAAG -3'
Sequencing Primer
(F):5'- ATTTCAGCCGTGAGACACTG -3'
(R):5'- GTAAGATTCTAGGTAAGTAGGTTCCC -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation