Incidental Mutation 'R7305:Prr14l'
| ID |
567223 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prr14l
|
| Ensembl Gene |
ENSMUSG00000054280 |
| Gene Name |
proline rich 14-like |
| Synonyms |
Prl14l, 6030436E02Rik, C330019G07Rik |
| MMRRC Submission |
045407-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.193)
|
| Stock # |
R7305 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
32947164-33011600 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32988445 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 350
(D350G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113259
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120129]
[ENSMUST00000130134]
[ENSMUST00000144673]
[ENSMUST00000155392]
|
| AlphaFold |
E9Q7C4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120129
AA Change: D350G
PolyPhen 2
Score 0.145 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000113259
Gene: ENSMUSG00000054280
AA Change: D350G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
720 |
731 |
N/A |
INTRINSIC |
|
low complexity region
|
1433 |
1446 |
N/A |
INTRINSIC |
|
low complexity region
|
1471 |
1480 |
N/A |
INTRINSIC |
|
Pfam:Tantalus
|
1838 |
1895 |
2.9e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130134
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144673
|
| SMART Domains |
Protein: ENSMUSP00000124923
Gene: ENSMUSG00000093574
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tantalus
|
158 |
193 |
1.2e-15 |
PFAM |
|
Pfam:PS_Dcarbxylase
|
332 |
575 |
2.1e-71 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155392
|
| SMART Domains |
Protein: ENSMUSP00000119569
Gene: ENSMUSG00000054280
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
276 |
289 |
N/A |
INTRINSIC |
|
low complexity region
|
314 |
323 |
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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd16b |
A |
T |
2: 181,135,209 (GRCm39) |
D37V |
possibly damaging |
Het |
| Ankhd1 |
A |
G |
18: 36,765,258 (GRCm39) |
D87G |
|
Het |
| Ankrd31 |
A |
G |
13: 97,015,479 (GRCm39) |
S1583G |
probably damaging |
Het |
| Ankub1 |
T |
C |
3: 57,599,938 (GRCm39) |
|
probably benign |
Het |
| Apba3 |
A |
G |
10: 81,107,067 (GRCm39) |
D264G |
probably damaging |
Het |
| Armh3 |
A |
T |
19: 45,880,560 (GRCm39) |
M508K |
probably benign |
Het |
| Asap1 |
G |
A |
15: 64,002,099 (GRCm39) |
T404M |
probably damaging |
Het |
| Cnot3 |
A |
T |
7: 3,648,479 (GRCm39) |
|
probably benign |
Het |
| Cxxc1 |
A |
G |
18: 74,352,467 (GRCm39) |
Y349C |
probably benign |
Het |
| Cyfip1 |
AGTGT |
AGT |
7: 55,577,937 (GRCm39) |
|
probably null |
Het |
| Cyp3a57 |
A |
G |
5: 145,307,795 (GRCm39) |
I184V |
probably benign |
Het |
| D130052B06Rik |
GTCTACACTGTCCTGCACAGGTGACCCATCTACCCCGTCCTATCCTGGCGACCCATCTACACTGTCCTG |
GTCTACACTGTCCTG |
11: 33,573,355 (GRCm39) |
|
probably null |
Het |
| Dab1 |
T |
A |
4: 104,570,987 (GRCm39) |
D210E |
|
Het |
| Elavl1 |
G |
A |
8: 4,375,199 (GRCm39) |
|
probably benign |
Het |
| Emilin1 |
C |
T |
5: 31,074,433 (GRCm39) |
Q225* |
probably null |
Het |
| Eml6 |
G |
T |
11: 29,727,258 (GRCm39) |
A1288E |
probably benign |
Het |
| Eno1 |
T |
C |
4: 150,329,796 (GRCm39) |
|
probably null |
Het |
| Eprs1 |
C |
T |
1: 185,111,898 (GRCm39) |
R303C |
probably damaging |
Het |
| Eps15l1 |
G |
A |
8: 73,126,878 (GRCm39) |
A651V |
probably benign |
Het |
| Etl4 |
A |
T |
2: 20,714,368 (GRCm39) |
I156F |
probably damaging |
Het |
| Faim2 |
A |
T |
15: 99,411,814 (GRCm39) |
I171N |
probably damaging |
Het |
| Fam135a |
T |
A |
1: 24,069,939 (GRCm39) |
N381I |
probably damaging |
Het |
| Fhip1a |
G |
T |
3: 85,637,831 (GRCm39) |
P156Q |
probably damaging |
Het |
| Gabrg3 |
T |
A |
7: 56,384,833 (GRCm39) |
M243L |
probably benign |
Het |
| Garin2 |
A |
G |
12: 78,761,809 (GRCm39) |
K158E |
possibly damaging |
Het |
| Gm5134 |
A |
G |
10: 75,836,233 (GRCm39) |
I405V |
probably damaging |
Het |
| Gm9376 |
A |
T |
14: 118,504,768 (GRCm39) |
K67* |
probably null |
Het |
| Grm8 |
A |
T |
6: 27,761,354 (GRCm39) |
I290K |
possibly damaging |
Het |
| Hao1 |
T |
A |
2: 134,390,121 (GRCm39) |
M73L |
probably benign |
Het |
| Herc1 |
A |
G |
9: 66,369,150 (GRCm39) |
D452G |
|
Het |
| Idh3b |
C |
A |
2: 130,123,413 (GRCm39) |
K192N |
possibly damaging |
Het |
| Igkv6-23 |
A |
G |
6: 70,237,553 (GRCm39) |
S63P |
probably benign |
Het |
| Itgb2 |
A |
C |
10: 77,384,398 (GRCm39) |
D173A |
probably damaging |
Het |
| Jmjd8 |
A |
T |
17: 26,049,301 (GRCm39) |
T255S |
probably benign |
Het |
| Lamc3 |
A |
C |
2: 31,820,714 (GRCm39) |
E1243A |
probably benign |
Het |
| Map1a |
A |
G |
2: 121,129,939 (GRCm39) |
T252A |
probably damaging |
Het |
| Mrgpra1 |
C |
A |
7: 46,985,203 (GRCm39) |
A159S |
probably benign |
Het |
| Ndst3 |
T |
C |
3: 123,395,131 (GRCm39) |
I500V |
possibly damaging |
Het |
| Nhsl1 |
A |
G |
10: 18,407,434 (GRCm39) |
T1523A |
possibly damaging |
Het |
| Nr2f1 |
A |
G |
13: 78,343,298 (GRCm39) |
I322T |
probably damaging |
Het |
| Nup210 |
T |
C |
6: 91,064,948 (GRCm39) |
E184G |
probably damaging |
Het |
| Obsl1 |
C |
T |
1: 75,470,590 (GRCm39) |
W1022* |
probably null |
Het |
| Or2l13 |
T |
A |
16: 19,306,449 (GRCm39) |
I287N |
probably damaging |
Het |
| Or4a77 |
T |
A |
2: 89,486,846 (GRCm39) |
H313L |
probably benign |
Het |
| Or52p2 |
G |
T |
7: 102,237,162 (GRCm39) |
Q263K |
possibly damaging |
Het |
| Or5p51 |
A |
T |
7: 107,444,572 (GRCm39) |
Y123N |
probably damaging |
Het |
| Or6c1 |
A |
T |
10: 129,518,149 (GRCm39) |
I153N |
probably damaging |
Het |
| Or6c65 |
T |
A |
10: 129,603,720 (GRCm39) |
Y118* |
probably null |
Het |
| Otulinl |
A |
G |
15: 27,658,319 (GRCm39) |
C184R |
probably benign |
Het |
| Oxr1 |
C |
T |
15: 41,677,004 (GRCm39) |
P187L |
not run |
Het |
| Parp8 |
A |
G |
13: 117,031,461 (GRCm39) |
L417P |
possibly damaging |
Het |
| Pdia6 |
A |
G |
12: 17,324,509 (GRCm39) |
Q120R |
probably benign |
Het |
| Ppp3cc |
T |
C |
14: 70,478,252 (GRCm39) |
N290S |
probably benign |
Het |
| Prdm5 |
C |
A |
6: 65,808,244 (GRCm39) |
S63R |
possibly damaging |
Het |
| Pwwp2a |
T |
C |
11: 43,607,878 (GRCm39) |
L497S |
probably damaging |
Het |
| R3hdm2 |
A |
G |
10: 127,312,547 (GRCm39) |
N430D |
probably benign |
Het |
| Rad51ap2 |
A |
G |
12: 11,507,344 (GRCm39) |
N422S |
possibly damaging |
Het |
| Rbbp8 |
G |
A |
18: 11,805,638 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
GGCGGCGGC |
GGCGGCGGCAGCGGCGGC |
7: 97,229,125 (GRCm39) |
|
probably benign |
Het |
| Slc22a6 |
G |
A |
19: 8,599,522 (GRCm39) |
|
probably null |
Het |
| Slc28a3 |
T |
A |
13: 58,714,045 (GRCm39) |
E440V |
possibly damaging |
Het |
| Slc30a5 |
A |
T |
13: 100,947,932 (GRCm39) |
I482K |
probably damaging |
Het |
| Slco1a1 |
A |
T |
6: 141,870,223 (GRCm39) |
F305Y |
probably damaging |
Het |
| Slco1a8 |
G |
A |
6: 141,938,220 (GRCm39) |
A253V |
probably damaging |
Het |
| Slco4c1 |
T |
C |
1: 96,756,690 (GRCm39) |
N544S |
probably damaging |
Het |
| Smpd4 |
T |
A |
16: 17,459,647 (GRCm39) |
I656N |
probably damaging |
Het |
| Spata31h1 |
A |
T |
10: 82,120,953 (GRCm39) |
I4019K |
probably benign |
Het |
| Taok1 |
A |
T |
11: 77,432,500 (GRCm39) |
L771* |
probably null |
Het |
| Tmem231 |
T |
C |
8: 112,641,927 (GRCm39) |
D209G |
possibly damaging |
Het |
| Tmem25 |
A |
G |
9: 44,706,705 (GRCm39) |
|
probably null |
Het |
| Tmem79 |
T |
C |
3: 88,240,718 (GRCm39) |
T77A |
probably benign |
Het |
| Topbp1 |
A |
T |
9: 103,205,836 (GRCm39) |
T825S |
probably damaging |
Het |
| Trpm6 |
A |
T |
19: 18,853,455 (GRCm39) |
Q1825L |
probably benign |
Het |
| Uba1y |
T |
A |
Y: 821,348 (GRCm39) |
D110E |
probably damaging |
Het |
| Utrn |
A |
T |
10: 12,261,280 (GRCm39) |
N3422K |
probably benign |
Het |
| Vmn1r219 |
A |
T |
13: 23,347,314 (GRCm39) |
M168L |
probably benign |
Het |
| Vmn2r62 |
T |
C |
7: 42,414,235 (GRCm39) |
H736R |
possibly damaging |
Het |
| Wdr1 |
T |
C |
5: 38,697,435 (GRCm39) |
H291R |
possibly damaging |
Het |
| Zan |
T |
C |
5: 137,413,401 (GRCm39) |
T3177A |
unknown |
Het |
| Zbtb21 |
T |
C |
16: 97,752,495 (GRCm39) |
H596R |
possibly damaging |
Het |
|
| Other mutations in Prr14l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00229:Prr14l
|
APN |
5 |
32,988,020 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL00331:Prr14l
|
APN |
5 |
32,988,410 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01571:Prr14l
|
APN |
5 |
32,986,150 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01795:Prr14l
|
APN |
5 |
32,989,189 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01929:Prr14l
|
APN |
5 |
32,985,587 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01959:Prr14l
|
APN |
5 |
32,987,549 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL02139:Prr14l
|
APN |
5 |
32,984,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02321:Prr14l
|
APN |
5 |
32,985,151 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02508:Prr14l
|
APN |
5 |
32,988,286 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02551:Prr14l
|
APN |
5 |
32,988,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02585:Prr14l
|
APN |
5 |
32,986,828 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
IGL02614:Prr14l
|
APN |
5 |
32,987,887 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL02808:Prr14l
|
APN |
5 |
32,985,526 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02836:Prr14l
|
APN |
5 |
32,988,440 (GRCm39) |
missense |
probably benign |
0.42 |
|
IGL02952:Prr14l
|
APN |
5 |
32,993,014 (GRCm39) |
missense |
unknown |
|
|
IGL03034:Prr14l
|
APN |
5 |
32,984,782 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
Polymer
|
UTSW |
5 |
32,984,489 (GRCm39) |
missense |
probably benign |
0.34 |
|
Postwar
|
UTSW |
5 |
32,988,028 (GRCm39) |
missense |
probably benign |
0.17 |
|
H8562:Prr14l
|
UTSW |
5 |
32,951,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0086:Prr14l
|
UTSW |
5 |
32,988,903 (GRCm39) |
unclassified |
probably benign |
|
|
R0149:Prr14l
|
UTSW |
5 |
32,950,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0333:Prr14l
|
UTSW |
5 |
32,985,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0361:Prr14l
|
UTSW |
5 |
32,950,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0416:Prr14l
|
UTSW |
5 |
32,986,061 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0480:Prr14l
|
UTSW |
5 |
32,987,224 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0511:Prr14l
|
UTSW |
5 |
33,001,560 (GRCm39) |
intron |
probably benign |
|
|
R0639:Prr14l
|
UTSW |
5 |
32,986,259 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0673:Prr14l
|
UTSW |
5 |
32,986,259 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0743:Prr14l
|
UTSW |
5 |
32,988,538 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R0792:Prr14l
|
UTSW |
5 |
32,985,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1006:Prr14l
|
UTSW |
5 |
32,986,826 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1342:Prr14l
|
UTSW |
5 |
32,987,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1433:Prr14l
|
UTSW |
5 |
32,986,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1527:Prr14l
|
UTSW |
5 |
32,985,293 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1704:Prr14l
|
UTSW |
5 |
32,987,626 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1967:Prr14l
|
UTSW |
5 |
33,001,813 (GRCm39) |
intron |
probably benign |
|
|
R2129:Prr14l
|
UTSW |
5 |
32,989,172 (GRCm39) |
unclassified |
probably benign |
|
|
R2150:Prr14l
|
UTSW |
5 |
32,988,046 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2318:Prr14l
|
UTSW |
5 |
32,987,422 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2915:Prr14l
|
UTSW |
5 |
32,987,112 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3551:Prr14l
|
UTSW |
5 |
32,985,963 (GRCm39) |
splice site |
probably null |
|
|
R3820:Prr14l
|
UTSW |
5 |
32,986,328 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3852:Prr14l
|
UTSW |
5 |
32,987,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4126:Prr14l
|
UTSW |
5 |
32,985,347 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4345:Prr14l
|
UTSW |
5 |
32,985,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4388:Prr14l
|
UTSW |
5 |
32,986,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4575:Prr14l
|
UTSW |
5 |
32,950,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4596:Prr14l
|
UTSW |
5 |
32,986,652 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4690:Prr14l
|
UTSW |
5 |
33,001,500 (GRCm39) |
intron |
probably benign |
|
|
R4824:Prr14l
|
UTSW |
5 |
33,001,743 (GRCm39) |
intron |
probably benign |
|
|
R4868:Prr14l
|
UTSW |
5 |
32,987,281 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4869:Prr14l
|
UTSW |
5 |
32,986,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5201:Prr14l
|
UTSW |
5 |
32,987,591 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R5328:Prr14l
|
UTSW |
5 |
32,987,365 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5410:Prr14l
|
UTSW |
5 |
32,985,121 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5476:Prr14l
|
UTSW |
5 |
33,001,482 (GRCm39) |
intron |
probably benign |
|
|
R5623:Prr14l
|
UTSW |
5 |
33,001,852 (GRCm39) |
intron |
probably benign |
|
|
R5730:Prr14l
|
UTSW |
5 |
32,950,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5988:Prr14l
|
UTSW |
5 |
32,988,195 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6261:Prr14l
|
UTSW |
5 |
32,986,748 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6283:Prr14l
|
UTSW |
5 |
32,987,608 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6307:Prr14l
|
UTSW |
5 |
32,984,869 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6825:Prr14l
|
UTSW |
5 |
32,985,892 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6862:Prr14l
|
UTSW |
5 |
32,985,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6880:Prr14l
|
UTSW |
5 |
32,988,211 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6931:Prr14l
|
UTSW |
5 |
32,988,035 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7101:Prr14l
|
UTSW |
5 |
32,986,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7164:Prr14l
|
UTSW |
5 |
32,986,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7203:Prr14l
|
UTSW |
5 |
32,984,489 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7211:Prr14l
|
UTSW |
5 |
32,987,431 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7346:Prr14l
|
UTSW |
5 |
32,988,028 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7395:Prr14l
|
UTSW |
5 |
32,985,982 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7624:Prr14l
|
UTSW |
5 |
32,986,967 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R7649:Prr14l
|
UTSW |
5 |
32,985,589 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7753:Prr14l
|
UTSW |
5 |
32,984,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7828:Prr14l
|
UTSW |
5 |
33,001,735 (GRCm39) |
intron |
probably benign |
|
|
R7898:Prr14l
|
UTSW |
5 |
32,987,310 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8071:Prr14l
|
UTSW |
5 |
32,988,508 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9052:Prr14l
|
UTSW |
5 |
32,987,478 (GRCm39) |
nonsense |
probably null |
|
|
R9136:Prr14l
|
UTSW |
5 |
32,986,080 (GRCm39) |
missense |
|
|
|
R9682:Prr14l
|
UTSW |
5 |
32,988,023 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTGACTACAGACTTAGTAGCATC -3'
(R):5'- GGATTGATAAAGGCGTGTGC -3'
Sequencing Primer
(F):5'- ACTGTAAATCTTCCCATTTAATGCAC -3'
(R):5'- TGGAGGACTTCACTTGTG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation