Incidental Mutation 'R6307:Prr14l'
| ID |
509456 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prr14l
|
| Ensembl Gene |
ENSMUSG00000054280 |
| Gene Name |
proline rich 14-like |
| Synonyms |
Prl14l, 6030436E02Rik, C330019G07Rik |
| MMRRC Submission |
044412-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.243)
|
| Stock # |
R6307 (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 A
at 32984869 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 1542
(H1542L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113259
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120129]
[ENSMUST00000144673]
[ENSMUST00000155392]
|
| AlphaFold |
E9Q7C4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120129
AA Change: H1542L
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113259
Gene: ENSMUSG00000054280
AA Change: H1542L
| 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: 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 |
possibly damaging
Transcript: ENSMUST00000155392
AA Change: H385L
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000119569
Gene: ENSMUSG00000054280
AA Change: H385L
| 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: 99.3%
- 20x: 97.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
C |
10: 79,843,221 (GRCm39) |
L1232P |
probably damaging |
Het |
| Akap6 |
A |
T |
12: 53,188,351 (GRCm39) |
I1922F |
possibly damaging |
Het |
| Ankdd1a |
C |
T |
9: 65,415,343 (GRCm39) |
A227T |
possibly damaging |
Het |
| Arpc5 |
T |
C |
1: 152,647,206 (GRCm39) |
V103A |
possibly damaging |
Het |
| Atp9a |
C |
A |
2: 168,510,090 (GRCm39) |
V430F |
probably benign |
Het |
| Bod1 |
A |
G |
11: 31,616,932 (GRCm39) |
S110P |
probably damaging |
Het |
| Cacna1c |
C |
A |
6: 118,590,914 (GRCm39) |
V1453F |
probably damaging |
Het |
| Capn8 |
T |
A |
1: 182,435,264 (GRCm39) |
M414K |
probably damaging |
Het |
| Cbl |
A |
T |
9: 44,069,809 (GRCm39) |
|
probably null |
Het |
| Ccdc42 |
A |
T |
11: 68,479,106 (GRCm39) |
Q98L |
probably damaging |
Het |
| Ccn3 |
T |
C |
15: 54,611,421 (GRCm39) |
|
probably null |
Het |
| Cd200 |
C |
A |
16: 45,217,545 (GRCm39) |
V49L |
probably benign |
Het |
| Celsr1 |
A |
G |
15: 85,812,531 (GRCm39) |
S2060P |
probably benign |
Het |
| Ces1g |
A |
T |
8: 94,057,820 (GRCm39) |
H160Q |
possibly damaging |
Het |
| Chrnb2 |
G |
T |
3: 89,668,831 (GRCm39) |
H161Q |
probably damaging |
Het |
| Ctns |
G |
A |
11: 73,082,559 (GRCm39) |
T57I |
probably benign |
Het |
| Cyp3a25 |
A |
T |
5: 145,931,766 (GRCm39) |
M114K |
possibly damaging |
Het |
| D630003M21Rik |
A |
G |
2: 158,057,871 (GRCm39) |
F536L |
probably benign |
Het |
| Dcc |
C |
T |
18: 71,943,826 (GRCm39) |
R275Q |
probably benign |
Het |
| Dmxl2 |
A |
T |
9: 54,289,990 (GRCm39) |
H2508Q |
possibly damaging |
Het |
| Elf5 |
C |
A |
2: 103,269,757 (GRCm39) |
Q113K |
probably damaging |
Het |
| Fam83a |
T |
G |
15: 57,849,507 (GRCm39) |
V17G |
possibly damaging |
Het |
| Farsa |
T |
C |
8: 85,587,674 (GRCm39) |
|
probably null |
Het |
| Fat2 |
G |
C |
11: 55,172,106 (GRCm39) |
T2869S |
possibly damaging |
Het |
| Fgg |
A |
T |
3: 82,920,283 (GRCm39) |
Q354L |
probably damaging |
Het |
| Folh1 |
T |
C |
7: 86,372,517 (GRCm39) |
D679G |
probably damaging |
Het |
| Gbp4 |
T |
A |
5: 105,270,975 (GRCm39) |
R83* |
probably null |
Het |
| Gm17482 |
T |
A |
6: 115,204,311 (GRCm39) |
|
probably benign |
Het |
| Hmgxb4 |
T |
A |
8: 75,749,927 (GRCm39) |
V481D |
possibly damaging |
Het |
| Ifi207 |
A |
C |
1: 173,552,619 (GRCm39) |
Y926D |
probably damaging |
Het |
| Ikzf5 |
T |
A |
7: 130,993,377 (GRCm39) |
N264Y |
probably damaging |
Het |
| Kat6a |
T |
A |
8: 23,430,384 (GRCm39) |
M1913K |
unknown |
Het |
| Krt33b |
A |
T |
11: 99,915,694 (GRCm39) |
C351S |
probably benign |
Het |
| Lrp1 |
T |
C |
10: 127,427,944 (GRCm39) |
D543G |
probably damaging |
Het |
| Lrrfip2 |
C |
T |
9: 111,053,021 (GRCm39) |
R339W |
probably damaging |
Het |
| Mapk3 |
T |
G |
7: 126,363,454 (GRCm39) |
M276R |
probably benign |
Het |
| Mgst1 |
T |
C |
6: 138,127,827 (GRCm39) |
V137A |
probably benign |
Het |
| Muc16 |
T |
C |
9: 18,558,884 (GRCm39) |
T2470A |
unknown |
Het |
| Muc4 |
C |
T |
16: 32,575,237 (GRCm39) |
S1274F |
possibly damaging |
Het |
| Myo5c |
A |
C |
9: 75,180,198 (GRCm39) |
K713T |
possibly damaging |
Het |
| Myzap |
T |
C |
9: 71,466,146 (GRCm39) |
D170G |
possibly damaging |
Het |
| Naa50 |
T |
C |
16: 43,979,831 (GRCm39) |
V113A |
probably damaging |
Het |
| Neu3 |
T |
C |
7: 99,462,929 (GRCm39) |
T265A |
probably benign |
Het |
| Nin |
T |
C |
12: 70,061,631 (GRCm39) |
T2078A |
possibly damaging |
Het |
| Nomo1 |
G |
A |
7: 45,683,260 (GRCm39) |
|
probably benign |
Het |
| Nprl3 |
A |
G |
11: 32,189,828 (GRCm39) |
L273P |
probably damaging |
Het |
| Oaf |
T |
A |
9: 43,136,216 (GRCm39) |
H120L |
possibly damaging |
Het |
| Or10s1 |
T |
C |
9: 39,985,824 (GRCm39) |
S78P |
probably damaging |
Het |
| Or13p4 |
C |
T |
4: 118,547,145 (GRCm39) |
R168H |
probably benign |
Het |
| Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
| Or8k21 |
T |
C |
2: 86,145,468 (GRCm39) |
H54R |
probably benign |
Het |
| Pcdhga3 |
T |
A |
18: 37,809,674 (GRCm39) |
|
probably benign |
Het |
| Polq |
G |
A |
16: 36,837,718 (GRCm39) |
|
probably null |
Het |
| Prdm8 |
C |
T |
5: 98,333,162 (GRCm39) |
P243L |
possibly damaging |
Het |
| Prim2 |
T |
C |
1: 33,701,373 (GRCm39) |
D138G |
probably benign |
Het |
| Prl2c5 |
A |
G |
13: 13,365,175 (GRCm39) |
E107G |
probably benign |
Het |
| Rab26 |
T |
C |
17: 24,749,072 (GRCm39) |
E203G |
probably damaging |
Het |
| Rtkn2 |
A |
T |
10: 67,871,662 (GRCm39) |
H350L |
possibly damaging |
Het |
| Scara3 |
T |
C |
14: 66,175,710 (GRCm39) |
D19G |
probably benign |
Het |
| Scn3a |
A |
G |
2: 65,302,685 (GRCm39) |
S1254P |
probably damaging |
Het |
| Sdcbp |
A |
G |
4: 6,385,059 (GRCm39) |
M93V |
probably benign |
Het |
| Sema6a |
C |
A |
18: 47,382,231 (GRCm39) |
R772L |
probably damaging |
Het |
| Slc5a7 |
T |
C |
17: 54,584,006 (GRCm39) |
K428R |
probably benign |
Het |
| Sptbn2 |
G |
A |
19: 4,774,674 (GRCm39) |
G109D |
probably damaging |
Het |
| Tmppe |
T |
C |
9: 114,233,812 (GRCm39) |
L37P |
probably benign |
Het |
| Tuba1a |
T |
C |
15: 98,849,410 (GRCm39) |
T56A |
probably benign |
Het |
| Tut4 |
T |
A |
4: 108,412,817 (GRCm39) |
I1506N |
probably damaging |
Het |
| Vmn2r111 |
A |
G |
17: 22,792,070 (GRCm39) |
I62T |
probably benign |
Het |
| Vmn2r73 |
A |
G |
7: 85,506,828 (GRCm39) |
I828T |
probably damaging |
Het |
| Vmn2r79 |
T |
A |
7: 86,686,976 (GRCm39) |
W786R |
probably damaging |
Het |
| Zp1 |
G |
A |
19: 10,894,084 (GRCm39) |
T405M |
probably null |
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 |
|
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 |
|
R7305:Prr14l
|
UTSW |
5 |
32,988,445 (GRCm39) |
missense |
probably benign |
0.14 |
|
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'- GGCAGTGCCTCCATATTCTTGG -3'
(R):5'- AATGCAATGCAGCTGGACC -3'
Sequencing Primer
(F):5'- CCATATTCTTGGAGAGGAGCC -3'
(R):5'- CAATGCAGCTGGACCCATATTTGG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation