Incidental Mutation 'R7649:Il17rd'
| ID |
590709 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il17rd
|
| Ensembl Gene |
ENSMUSG00000040717 |
| Gene Name |
interleukin 17 receptor D |
| Synonyms |
2810004A10Rik, Sef-S, Sef |
| MMRRC Submission |
045646-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7649 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
26760990-26829243 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 26761167 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 36
(A36E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036076
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035336]
[ENSMUST00000223942]
[ENSMUST00000225146]
|
| AlphaFold |
Q8JZL1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035336
AA Change: A36E
PolyPhen 2
Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000036076
Gene: ENSMUSG00000040717
AA Change: A36E
| 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 |
possibly damaging
Transcript: ENSMUST00000223942
AA Change: A36E
PolyPhen 2
Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225146
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
98% (57/58) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr3b |
T |
C |
5: 26,053,364 (GRCm39) |
V319A |
probably benign |
Het |
| Adam28 |
T |
A |
14: 68,872,282 (GRCm39) |
Y320F |
probably benign |
Het |
| Adam4 |
T |
C |
12: 81,467,151 (GRCm39) |
Y490C |
probably damaging |
Het |
| Ampd3 |
G |
T |
7: 110,377,049 (GRCm39) |
L13F |
probably benign |
Het |
| Arhgap45 |
C |
A |
10: 79,866,835 (GRCm39) |
Q1113K |
probably benign |
Het |
| Arid5b |
T |
C |
10: 67,954,175 (GRCm39) |
T370A |
possibly damaging |
Het |
| Arl15 |
A |
G |
13: 114,104,208 (GRCm39) |
D115G |
possibly damaging |
Het |
| AW146154 |
G |
A |
7: 41,130,156 (GRCm39) |
T320I |
probably benign |
Het |
| Cdh17 |
C |
T |
4: 11,814,698 (GRCm39) |
P751L |
probably damaging |
Het |
| Chchd4 |
C |
T |
6: 91,444,754 (GRCm39) |
R11Q |
probably benign |
Het |
| Clta |
T |
G |
4: 44,025,494 (GRCm39) |
I140R |
possibly damaging |
Het |
| Cnpy1 |
T |
C |
5: 28,412,282 (GRCm39) |
T84A |
probably benign |
Het |
| Cpne5 |
T |
C |
17: 29,445,172 (GRCm39) |
D44G |
probably damaging |
Het |
| Crkl |
T |
C |
16: 17,270,366 (GRCm39) |
S9P |
unknown |
Het |
| Csmd3 |
T |
C |
15: 47,532,539 (GRCm39) |
D1641G |
|
Het |
| Ctnnd2 |
A |
G |
15: 31,027,630 (GRCm39) |
T1185A |
probably benign |
Het |
| Dlc1 |
A |
T |
8: 37,049,894 (GRCm39) |
L607Q |
probably damaging |
Het |
| Dpy19l2 |
T |
C |
9: 24,607,459 (GRCm39) |
M1V |
probably null |
Het |
| Dst |
T |
C |
1: 34,206,778 (GRCm39) |
V982A |
probably benign |
Het |
| Fam135b |
T |
C |
15: 71,334,429 (GRCm39) |
I922V |
probably benign |
Het |
| Fbxl13 |
T |
C |
5: 21,819,664 (GRCm39) |
E245G |
probably benign |
Het |
| Fcgbp |
T |
C |
7: 27,790,928 (GRCm39) |
S730P |
possibly damaging |
Het |
| Ggt1 |
T |
C |
10: 75,421,290 (GRCm39) |
V468A |
possibly damaging |
Het |
| Gja5 |
A |
T |
3: 96,958,957 (GRCm39) |
H338L |
probably benign |
Het |
| Herpud2 |
T |
C |
9: 25,021,902 (GRCm39) |
E248G |
possibly damaging |
Het |
| Irf2bpl |
T |
C |
12: 86,929,572 (GRCm39) |
Y367C |
possibly damaging |
Het |
| Lama1 |
T |
A |
17: 68,044,549 (GRCm39) |
D149E |
|
Het |
| Lipf |
A |
T |
19: 33,943,098 (GRCm39) |
E135D |
possibly damaging |
Het |
| Manea |
T |
A |
4: 26,328,234 (GRCm39) |
D269V |
probably damaging |
Het |
| Megf6 |
A |
G |
4: 154,349,542 (GRCm39) |
Y910C |
probably damaging |
Het |
| Mical3 |
G |
A |
6: 120,911,909 (GRCm39) |
R1928W |
probably damaging |
Het |
| Or13c3 |
G |
A |
4: 52,855,692 (GRCm39) |
Q274* |
probably null |
Het |
| Or5b108 |
T |
A |
19: 13,168,136 (GRCm39) |
I35N |
possibly damaging |
Het |
| Plch1 |
G |
T |
3: 63,605,590 (GRCm39) |
S1438* |
probably null |
Het |
| Por |
T |
C |
5: 135,763,359 (GRCm39) |
F595L |
probably damaging |
Het |
| Prkcg |
G |
A |
7: 3,378,480 (GRCm39) |
R634H |
probably benign |
Het |
| Prr14l |
C |
T |
5: 32,985,589 (GRCm39) |
G1302D |
probably benign |
Het |
| Rcan3 |
A |
T |
4: 135,139,799 (GRCm39) |
S135T |
probably benign |
Het |
| Rnf223 |
A |
G |
4: 156,216,660 (GRCm39) |
M12V |
probably benign |
Het |
| Rps6kb2 |
A |
G |
19: 4,207,020 (GRCm39) |
S483P |
unknown |
Het |
| Sacs |
T |
A |
14: 61,440,677 (GRCm39) |
F908I |
possibly damaging |
Het |
| Slc4a9 |
A |
G |
18: 36,661,430 (GRCm39) |
Q64R |
probably benign |
Het |
| Slco4c1 |
T |
A |
1: 96,756,667 (GRCm39) |
I552F |
probably benign |
Het |
| Sppl2b |
C |
T |
10: 80,703,253 (GRCm39) |
P505L |
probably benign |
Het |
| Sptbn4 |
A |
G |
7: 27,061,002 (GRCm39) |
S2434P |
possibly damaging |
Het |
| Ssh1 |
A |
T |
5: 114,088,612 (GRCm39) |
M395K |
probably benign |
Het |
| Stk10 |
A |
T |
11: 32,527,764 (GRCm39) |
I171F |
|
Het |
| Tmx3 |
C |
T |
18: 90,558,154 (GRCm39) |
A402V |
probably damaging |
Het |
| Tnfrsf13c |
T |
C |
15: 82,108,341 (GRCm39) |
D58G |
possibly damaging |
Het |
| Tnk1 |
T |
C |
11: 69,744,403 (GRCm39) |
|
probably null |
Het |
| Trav14n-3 |
A |
T |
14: 53,607,951 (GRCm39) |
N94Y |
probably damaging |
Het |
| Trav5-4 |
A |
T |
14: 53,941,902 (GRCm39) |
K92* |
probably null |
Het |
| Tsga10 |
C |
T |
1: 37,874,229 (GRCm39) |
R190H |
unknown |
Het |
| Zfhx3 |
T |
C |
8: 109,678,276 (GRCm39) |
F3109L |
probably benign |
Het |
| Zfhx4 |
A |
G |
3: 5,307,170 (GRCm39) |
Y132C |
probably damaging |
Het |
| Zfp521 |
T |
C |
18: 13,977,413 (GRCm39) |
E1000G |
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 |
|
R5042:Il17rd
|
UTSW |
14 |
26,817,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- CTAGAGAGCGAGCTACAGGC -3'
(R):5'- CAACACAAAGCCAGGGGTCG -3'
Sequencing Primer
(F):5'- TACAGGCAGCAACCTAGCGG -3'
(R):5'- TCATCCTGTCCGGGACCTG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation