Incidental Mutation 'R9461:Zpld2'
| ID |
714856 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zpld2
|
| Ensembl Gene |
ENSMUSG00000073747 |
| Gene Name |
zona pellucida like domain containing 2 |
| Synonyms |
Gm7534 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R9461 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
133918115-133930315 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 133929312 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 331
(P331L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095461
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097849]
|
| AlphaFold |
Q3UU21 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097849
AA Change: P331L
PolyPhen 2
Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000095461
Gene: ENSMUSG00000073747
AA Change: P331L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
16 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
21 |
111 |
5.47e-40 |
PROSPERO |
|
low complexity region
|
112 |
143 |
N/A |
INTRINSIC |
|
low complexity region
|
158 |
177 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
181 |
271 |
5.47e-40 |
PROSPERO |
|
low complexity region
|
322 |
334 |
N/A |
INTRINSIC |
|
ZP
|
368 |
618 |
3.21e-13 |
SMART |
|
low complexity region
|
650 |
668 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb9 |
T |
C |
5: 124,228,176 (GRCm39) |
T22A |
possibly damaging |
Het |
| Abhd18 |
A |
T |
3: 40,859,319 (GRCm39) |
|
probably null |
Het |
| Aox1 |
G |
A |
1: 58,116,736 (GRCm39) |
|
probably null |
Het |
| Arpp21 |
C |
A |
9: 111,965,704 (GRCm39) |
R422L |
probably damaging |
Het |
| Ccdc190 |
G |
A |
1: 169,761,489 (GRCm39) |
G197D |
probably benign |
Het |
| Cdc42bpa |
G |
T |
1: 179,969,861 (GRCm39) |
L1243F |
probably damaging |
Het |
| Ces2b |
T |
A |
8: 105,564,011 (GRCm39) |
F462I |
probably benign |
Het |
| Cfap45 |
A |
G |
1: 172,362,894 (GRCm39) |
E295G |
possibly damaging |
Het |
| Chst13 |
G |
A |
6: 90,286,506 (GRCm39) |
P152L |
probably damaging |
Het |
| Col24a1 |
G |
T |
3: 145,186,879 (GRCm39) |
E1227* |
probably null |
Het |
| Col5a1 |
A |
T |
2: 27,922,616 (GRCm39) |
D1717V |
unknown |
Het |
| Dab2 |
T |
C |
15: 6,460,435 (GRCm39) |
S448P |
possibly damaging |
Het |
| Dnajb1 |
T |
C |
8: 84,335,173 (GRCm39) |
|
probably null |
Het |
| Dock9 |
C |
T |
14: 121,842,601 (GRCm39) |
G1223D |
probably benign |
Het |
| Elp2 |
A |
G |
18: 24,765,869 (GRCm39) |
R670G |
probably damaging |
Het |
| Eppk1 |
T |
C |
15: 75,994,668 (GRCm39) |
I738V |
probably benign |
Het |
| Gas2l2 |
T |
A |
11: 83,313,031 (GRCm39) |
R760S |
probably damaging |
Het |
| H1f7 |
C |
T |
15: 98,155,138 (GRCm39) |
A4T |
probably damaging |
Het |
| Kif17 |
G |
A |
4: 138,005,253 (GRCm39) |
V273I |
probably damaging |
Het |
| Klhdc4 |
T |
C |
8: 122,526,224 (GRCm39) |
D336G |
probably damaging |
Het |
| Lmod2 |
A |
G |
6: 24,603,568 (GRCm39) |
N181S |
probably benign |
Het |
| Lrp8 |
G |
A |
4: 107,700,515 (GRCm39) |
G151D |
possibly damaging |
Het |
| Mb21d2 |
C |
T |
16: 28,647,261 (GRCm39) |
V238M |
probably damaging |
Het |
| Mfsd4b3-ps |
T |
G |
10: 39,823,247 (GRCm39) |
I338L |
probably benign |
Het |
| Nkain2 |
C |
T |
10: 32,766,125 (GRCm39) |
A112T |
unknown |
Het |
| Or14c41 |
T |
A |
7: 86,235,247 (GRCm39) |
Y255N |
possibly damaging |
Het |
| Or52n2b |
T |
A |
7: 104,565,583 (GRCm39) |
I307F |
probably benign |
Het |
| Or5b12b |
T |
A |
19: 12,861,875 (GRCm39) |
V210E |
possibly damaging |
Het |
| Or5i1 |
A |
G |
2: 87,612,883 (GRCm39) |
I2V |
probably benign |
Het |
| Pacs2 |
A |
G |
12: 113,010,727 (GRCm39) |
I126V |
probably benign |
Het |
| Phyhipl |
T |
C |
10: 70,395,243 (GRCm39) |
Y321C |
possibly damaging |
Het |
| Ppm1k |
T |
C |
6: 57,487,720 (GRCm39) |
S368G |
probably damaging |
Het |
| Ranbp6 |
T |
C |
19: 29,787,163 (GRCm39) |
D1063G |
possibly damaging |
Het |
| Sars2 |
T |
C |
7: 28,449,438 (GRCm39) |
M322T |
probably benign |
Het |
| Serbp1 |
G |
A |
6: 67,244,313 (GRCm39) |
R78H |
probably benign |
Het |
| Sfxn2 |
T |
A |
19: 46,574,192 (GRCm39) |
N127K |
probably damaging |
Het |
| Sgsm1 |
A |
T |
5: 113,423,898 (GRCm39) |
|
probably null |
Het |
| Slc22a22 |
T |
C |
15: 57,108,342 (GRCm39) |
Y491C |
probably damaging |
Het |
| Slc22a22 |
T |
A |
15: 57,127,052 (GRCm39) |
I6F |
probably damaging |
Het |
| Smpd1 |
C |
T |
7: 105,204,789 (GRCm39) |
L223F |
probably damaging |
Het |
| Spem1 |
T |
C |
11: 69,711,741 (GRCm39) |
K308E |
probably benign |
Het |
| Spsb1 |
A |
T |
4: 149,990,907 (GRCm39) |
C220* |
probably null |
Het |
| Syngap1 |
T |
A |
17: 27,173,962 (GRCm39) |
S190R |
possibly damaging |
Het |
| Tars3 |
T |
C |
7: 65,339,719 (GRCm39) |
S705P |
possibly damaging |
Het |
| Tbc1d16 |
G |
T |
11: 119,044,781 (GRCm39) |
F553L |
probably damaging |
Het |
| Thbs2 |
A |
G |
17: 14,910,435 (GRCm39) |
Y55H |
probably damaging |
Het |
| Tmem220 |
T |
C |
11: 66,924,979 (GRCm39) |
I138T |
possibly damaging |
Het |
| Tut7 |
G |
A |
13: 59,963,512 (GRCm39) |
T282I |
probably damaging |
Het |
| Txnl1 |
T |
C |
18: 63,810,050 (GRCm39) |
N131S |
probably benign |
Het |
| Vat1 |
T |
C |
11: 101,353,846 (GRCm39) |
T175A |
possibly damaging |
Het |
| Veph1 |
T |
A |
3: 66,029,066 (GRCm39) |
D651V |
probably benign |
Het |
| Zfp281 |
T |
A |
1: 136,554,500 (GRCm39) |
S493T |
probably benign |
Het |
|
| Other mutations in Zpld2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02183:Zpld2
|
APN |
4 |
133,929,291 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL03170:Zpld2
|
APN |
4 |
133,920,345 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
FR4342:Zpld2
|
UTSW |
4 |
133,929,942 (GRCm39) |
small insertion |
probably benign |
|
|
FR4976:Zpld2
|
UTSW |
4 |
133,929,941 (GRCm39) |
small insertion |
probably benign |
|
|
R0487:Zpld2
|
UTSW |
4 |
133,930,089 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0530:Zpld2
|
UTSW |
4 |
133,930,221 (GRCm39) |
missense |
probably benign |
|
|
R0553:Zpld2
|
UTSW |
4 |
133,929,829 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1121:Zpld2
|
UTSW |
4 |
133,930,248 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1458:Zpld2
|
UTSW |
4 |
133,924,144 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1748:Zpld2
|
UTSW |
4 |
133,929,430 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R1748:Zpld2
|
UTSW |
4 |
133,927,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1913:Zpld2
|
UTSW |
4 |
133,919,986 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2029:Zpld2
|
UTSW |
4 |
133,929,669 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2069:Zpld2
|
UTSW |
4 |
133,929,252 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R2237:Zpld2
|
UTSW |
4 |
133,929,516 (GRCm39) |
missense |
unknown |
|
|
R2239:Zpld2
|
UTSW |
4 |
133,929,516 (GRCm39) |
missense |
unknown |
|
|
R3943:Zpld2
|
UTSW |
4 |
133,927,656 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4646:Zpld2
|
UTSW |
4 |
133,929,459 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4673:Zpld2
|
UTSW |
4 |
133,927,658 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4838:Zpld2
|
UTSW |
4 |
133,920,410 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5002:Zpld2
|
UTSW |
4 |
133,924,231 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5593:Zpld2
|
UTSW |
4 |
133,920,350 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5606:Zpld2
|
UTSW |
4 |
133,927,523 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6553:Zpld2
|
UTSW |
4 |
133,929,367 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6834:Zpld2
|
UTSW |
4 |
133,920,476 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6931:Zpld2
|
UTSW |
4 |
133,920,464 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7526:Zpld2
|
UTSW |
4 |
133,927,384 (GRCm39) |
splice site |
probably null |
|
|
R7771:Zpld2
|
UTSW |
4 |
133,922,754 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8271:Zpld2
|
UTSW |
4 |
133,930,278 (GRCm39) |
missense |
unknown |
|
|
R8725:Zpld2
|
UTSW |
4 |
133,930,150 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8727:Zpld2
|
UTSW |
4 |
133,930,150 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8757:Zpld2
|
UTSW |
4 |
133,930,282 (GRCm39) |
missense |
unknown |
|
|
R8966:Zpld2
|
UTSW |
4 |
133,929,712 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8992:Zpld2
|
UTSW |
4 |
133,929,978 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9039:Zpld2
|
UTSW |
4 |
133,922,858 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9275:Zpld2
|
UTSW |
4 |
133,922,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9278:Zpld2
|
UTSW |
4 |
133,922,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9434:Zpld2
|
UTSW |
4 |
133,929,553 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9458:Zpld2
|
UTSW |
4 |
133,929,312 (GRCm39) |
missense |
probably benign |
0.36 |
|
R9460:Zpld2
|
UTSW |
4 |
133,929,312 (GRCm39) |
missense |
probably benign |
0.36 |
|
R9480:Zpld2
|
UTSW |
4 |
133,929,312 (GRCm39) |
missense |
probably benign |
0.36 |
|
R9481:Zpld2
|
UTSW |
4 |
133,929,312 (GRCm39) |
missense |
probably benign |
0.36 |
|
R9551:Zpld2
|
UTSW |
4 |
133,929,312 (GRCm39) |
missense |
probably benign |
0.36 |
|
R9552:Zpld2
|
UTSW |
4 |
133,929,312 (GRCm39) |
missense |
probably benign |
0.36 |
|
R9553:Zpld2
|
UTSW |
4 |
133,929,312 (GRCm39) |
missense |
probably benign |
0.36 |
|
RF015:Zpld2
|
UTSW |
4 |
133,920,338 (GRCm39) |
missense |
probably benign |
|
|
T0975:Zpld2
|
UTSW |
4 |
133,929,940 (GRCm39) |
small insertion |
probably benign |
|
|
Z1176:Zpld2
|
UTSW |
4 |
133,929,988 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Zpld2
|
UTSW |
4 |
133,927,649 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCGGCCATTTATCTGGTTTG -3'
(R):5'- GGCCCCACAACAATGAGTATG -3'
Sequencing Primer
(F):5'- GTGTTACTCCATGTTATCCATACAC -3'
(R):5'- CACAACAATGAGTATGTCACCTG -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation