Incidental Mutation 'R9234:Unc5d'
| ID |
700987 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Unc5d
|
| Ensembl Gene |
ENSMUSG00000063626 |
| Gene Name |
unc-5 netrin receptor D |
| Synonyms |
D930029E11Rik, Unc5h4 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.322)
|
| Stock # |
R9234 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
29136745-29709664 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 29250877 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 263
(N263K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128521
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168630]
[ENSMUST00000209401]
[ENSMUST00000210298]
[ENSMUST00000210785]
[ENSMUST00000211448]
|
| AlphaFold |
Q8K1S2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168630
AA Change: N263K
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000128521
Gene: ENSMUSG00000063626
AA Change: N263K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
SCOP:d1cs6a2
|
52 |
146 |
5e-3 |
SMART |
|
IGc2
|
169 |
236 |
2.66e-8 |
SMART |
|
TSP1
|
253 |
304 |
2.29e-13 |
SMART |
|
TSP1
|
309 |
358 |
6.33e-7 |
SMART |
|
transmembrane domain
|
383 |
405 |
N/A |
INTRINSIC |
|
Pfam:ZU5
|
545 |
642 |
1.6e-33 |
PFAM |
|
DEATH
|
850 |
941 |
4.77e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209401
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210298
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210785
AA Change: N263K
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211448
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice exhibit impaired induced growth cone collapse response and accelerated radial migration of cortical neurons. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430550D23Rik |
A |
G |
2: 155,845,798 (GRCm39) |
Y20H |
probably benign |
Het |
| Arid5b |
A |
G |
10: 67,964,628 (GRCm39) |
F348L |
possibly damaging |
Het |
| Bms1 |
C |
A |
6: 118,375,044 (GRCm39) |
A777S |
probably damaging |
Het |
| C2cd3 |
A |
G |
7: 100,049,012 (GRCm39) |
Y61C |
|
Het |
| Caprin2 |
A |
T |
6: 148,744,337 (GRCm39) |
Y1029* |
probably null |
Het |
| Casp1 |
A |
T |
9: 5,303,128 (GRCm39) |
D194V |
probably benign |
Het |
| Crkl |
A |
G |
16: 17,286,822 (GRCm39) |
E126G |
probably damaging |
Het |
| Crp |
A |
T |
1: 172,526,413 (GRCm39) |
D166V |
probably damaging |
Het |
| Dnah10 |
A |
C |
5: 124,818,989 (GRCm39) |
D425A |
possibly damaging |
Het |
| Dnah11 |
A |
T |
12: 117,951,095 (GRCm39) |
L3071Q |
probably damaging |
Het |
| Dnah9 |
T |
A |
11: 65,924,751 (GRCm39) |
I2168F |
possibly damaging |
Het |
| Elp3 |
T |
A |
14: 65,788,920 (GRCm39) |
I388F |
probably damaging |
Het |
| Espn |
C |
A |
4: 152,217,380 (GRCm39) |
|
probably null |
Het |
| Fbrsl1 |
G |
T |
5: 110,511,250 (GRCm39) |
F504L |
probably benign |
Het |
| Fzd9 |
A |
C |
5: 135,279,540 (GRCm39) |
M115R |
probably damaging |
Het |
| Git2 |
A |
T |
5: 114,899,682 (GRCm39) |
Y224N |
possibly damaging |
Het |
| Gm9195 |
A |
T |
14: 72,695,786 (GRCm39) |
Y1415* |
probably null |
Het |
| Gnpat |
T |
A |
8: 125,610,179 (GRCm39) |
L454Q |
probably damaging |
Het |
| Grm5 |
C |
T |
7: 87,723,440 (GRCm39) |
P577S |
probably damaging |
Het |
| Hfm1 |
T |
C |
5: 107,041,334 (GRCm39) |
N683S |
probably benign |
Het |
| Hps4 |
G |
A |
5: 112,525,905 (GRCm39) |
S642N |
possibly damaging |
Het |
| Leng8 |
C |
A |
7: 4,145,247 (GRCm39) |
P216T |
probably damaging |
Het |
| Letm2 |
C |
A |
8: 26,084,102 (GRCm39) |
R43L |
probably benign |
Het |
| Lims2 |
A |
T |
18: 32,090,943 (GRCm39) |
Y309F |
probably benign |
Het |
| Llgl1 |
T |
C |
11: 60,600,956 (GRCm39) |
|
probably null |
Het |
| Ltn1 |
A |
T |
16: 87,194,089 (GRCm39) |
D1417E |
probably damaging |
Het |
| Map4k4 |
T |
A |
1: 40,029,261 (GRCm39) |
N345K |
unknown |
Het |
| Mapre2 |
T |
C |
18: 23,937,236 (GRCm39) |
I26T |
probably benign |
Het |
| Nfe2 |
A |
G |
15: 103,159,636 (GRCm39) |
|
probably benign |
Het |
| Nlgn3 |
T |
C |
X: 100,352,390 (GRCm39) |
V179A |
probably damaging |
Het |
| Ntrk1 |
A |
G |
3: 87,695,622 (GRCm39) |
|
probably null |
Het |
| Or51b6b |
T |
A |
7: 103,309,950 (GRCm39) |
Y169F |
possibly damaging |
Het |
| Or52e18 |
A |
G |
7: 104,609,651 (GRCm39) |
F96S |
probably damaging |
Het |
| Or5h19 |
T |
C |
16: 58,856,789 (GRCm39) |
N104D |
probably benign |
Het |
| Otud7b |
G |
T |
3: 96,047,771 (GRCm39) |
Q43H |
probably damaging |
Het |
| Pcdhb5 |
T |
C |
18: 37,453,695 (GRCm39) |
V25A |
probably benign |
Het |
| Pcolce2 |
A |
G |
9: 95,560,439 (GRCm39) |
T163A |
probably benign |
Het |
| Pdgfra |
T |
A |
5: 75,324,262 (GRCm39) |
V39E |
possibly damaging |
Het |
| Pdgfrb |
T |
A |
18: 61,194,300 (GRCm39) |
W26R |
probably null |
Het |
| Pigp |
T |
A |
16: 94,165,522 (GRCm39) |
*206Y |
probably null |
Het |
| Pip5kl1 |
G |
T |
2: 32,468,211 (GRCm39) |
G126C |
probably benign |
Het |
| Plekhg2 |
G |
T |
7: 28,064,215 (GRCm39) |
T442K |
probably benign |
Het |
| Prmt5 |
A |
T |
14: 54,748,674 (GRCm39) |
S375T |
possibly damaging |
Het |
| Rnf213 |
T |
A |
11: 119,340,943 (GRCm39) |
M3529K |
|
Het |
| Ror2 |
C |
A |
13: 53,265,374 (GRCm39) |
D573Y |
probably damaging |
Het |
| Shank1 |
A |
G |
7: 43,962,579 (GRCm39) |
T98A |
unknown |
Het |
| Shcbp1 |
A |
T |
8: 4,798,800 (GRCm39) |
I373K |
possibly damaging |
Het |
| Slc25a42 |
A |
G |
8: 70,642,736 (GRCm39) |
S64P |
probably damaging |
Het |
| Smco3 |
T |
A |
6: 136,808,410 (GRCm39) |
I155F |
probably damaging |
Het |
| Snx4 |
C |
A |
16: 33,087,161 (GRCm39) |
S102* |
probably null |
Het |
| Snx4 |
T |
A |
16: 33,108,069 (GRCm39) |
S288T |
probably benign |
Het |
| Socs4 |
A |
G |
14: 47,527,716 (GRCm39) |
N217S |
probably benign |
Het |
| Tatdn2 |
G |
A |
6: 113,679,683 (GRCm39) |
|
probably null |
Het |
| Tmprss2 |
A |
G |
16: 97,379,821 (GRCm39) |
Y160H |
probably damaging |
Het |
| Trim37 |
T |
C |
11: 87,036,393 (GRCm39) |
I158T |
possibly damaging |
Het |
| Trip11 |
C |
T |
12: 101,811,990 (GRCm39) |
|
probably null |
Het |
| Ubr3 |
G |
A |
2: 69,727,990 (GRCm39) |
A118T |
probably benign |
Het |
| Ubxn7 |
T |
C |
16: 32,178,895 (GRCm39) |
|
probably null |
Het |
| Unc5cl |
C |
T |
17: 48,770,658 (GRCm39) |
H369Y |
probably damaging |
Het |
| Vmn2r59 |
A |
G |
7: 41,661,907 (GRCm39) |
I636T |
possibly damaging |
Het |
| Vps13d |
G |
T |
4: 144,875,792 (GRCm39) |
Q1578K |
|
Het |
| Wnk2 |
T |
C |
13: 49,224,274 (GRCm39) |
D1171G |
probably damaging |
Het |
| Zfpm2 |
A |
G |
15: 40,966,470 (GRCm39) |
Y985C |
probably damaging |
Het |
| Zpbp2 |
A |
T |
11: 98,443,398 (GRCm39) |
N77I |
probably damaging |
Het |
|
| Other mutations in Unc5d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00093:Unc5d
|
APN |
8 |
29,209,854 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL00687:Unc5d
|
APN |
8 |
29,205,841 (GRCm39) |
splice site |
probably benign |
|
|
IGL00970:Unc5d
|
APN |
8 |
29,186,456 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL01992:Unc5d
|
APN |
8 |
29,142,819 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02024:Unc5d
|
APN |
8 |
29,142,855 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02080:Unc5d
|
APN |
8 |
29,381,316 (GRCm39) |
splice site |
probably null |
|
|
IGL02902:Unc5d
|
APN |
8 |
29,365,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02982:Unc5d
|
APN |
8 |
29,142,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0071:Unc5d
|
UTSW |
8 |
29,209,854 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R0071:Unc5d
|
UTSW |
8 |
29,209,854 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R0761:Unc5d
|
UTSW |
8 |
29,186,560 (GRCm39) |
splice site |
probably null |
|
|
R0941:Unc5d
|
UTSW |
8 |
29,249,055 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1086:Unc5d
|
UTSW |
8 |
29,365,658 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1625:Unc5d
|
UTSW |
8 |
29,173,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1635:Unc5d
|
UTSW |
8 |
29,250,777 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1682:Unc5d
|
UTSW |
8 |
29,249,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1698:Unc5d
|
UTSW |
8 |
29,186,506 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2015:Unc5d
|
UTSW |
8 |
29,249,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2132:Unc5d
|
UTSW |
8 |
29,365,557 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R2174:Unc5d
|
UTSW |
8 |
29,184,568 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2210:Unc5d
|
UTSW |
8 |
29,251,825 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3684:Unc5d
|
UTSW |
8 |
29,184,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3734:Unc5d
|
UTSW |
8 |
29,251,826 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4093:Unc5d
|
UTSW |
8 |
29,334,865 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4287:Unc5d
|
UTSW |
8 |
29,209,824 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4888:Unc5d
|
UTSW |
8 |
29,156,927 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5000:Unc5d
|
UTSW |
8 |
29,205,775 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5060:Unc5d
|
UTSW |
8 |
29,209,723 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5076:Unc5d
|
UTSW |
8 |
29,184,704 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5696:Unc5d
|
UTSW |
8 |
29,156,870 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6024:Unc5d
|
UTSW |
8 |
29,365,539 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6077:Unc5d
|
UTSW |
8 |
29,165,335 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6259:Unc5d
|
UTSW |
8 |
29,156,820 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6387:Unc5d
|
UTSW |
8 |
29,365,554 (GRCm39) |
nonsense |
probably null |
|
|
R7038:Unc5d
|
UTSW |
8 |
29,205,749 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7577:Unc5d
|
UTSW |
8 |
29,381,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7641:Unc5d
|
UTSW |
8 |
29,210,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8175:Unc5d
|
UTSW |
8 |
29,334,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8426:Unc5d
|
UTSW |
8 |
29,210,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8465:Unc5d
|
UTSW |
8 |
29,156,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8748:Unc5d
|
UTSW |
8 |
29,186,453 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9228:Unc5d
|
UTSW |
8 |
29,165,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9257:Unc5d
|
UTSW |
8 |
29,215,174 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9338:Unc5d
|
UTSW |
8 |
29,709,471 (GRCm39) |
unclassified |
probably benign |
|
|
R9524:Unc5d
|
UTSW |
8 |
29,365,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9732:Unc5d
|
UTSW |
8 |
29,381,319 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9738:Unc5d
|
UTSW |
8 |
29,214,332 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9742:Unc5d
|
UTSW |
8 |
29,156,792 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9743:Unc5d
|
UTSW |
8 |
29,209,801 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
X0058:Unc5d
|
UTSW |
8 |
29,250,758 (GRCm39) |
missense |
probably benign |
0.12 |
|
X0060:Unc5d
|
UTSW |
8 |
29,184,704 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
Z1176:Unc5d
|
UTSW |
8 |
29,249,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Unc5d
|
UTSW |
8 |
29,381,336 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGGTAATGGAAGTGTACATTGC -3'
(R):5'- TCACAACAGAGCAGCAAGTG -3'
Sequencing Primer
(F):5'- GAAGTGTACATTGCTTGTTCCACAG -3'
(R):5'- AAGTGGAACTCTGAACCATCTCTTC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation