Incidental Mutation 'R5067:Kcp'
| ID |
388366 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcp
|
| Ensembl Gene |
ENSMUSG00000059022 |
| Gene Name |
kielin/chordin-like protein |
| Synonyms |
Crim2, LOC333088, KCP |
| MMRRC Submission |
042657-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.099)
|
| Stock # |
R5067 (G1)
|
| Quality Score |
217 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
29473161-29507951 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 29492107 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 153
(P153L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124771
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078112]
[ENSMUST00000091391]
[ENSMUST00000101614]
[ENSMUST00000159479]
|
| AlphaFold |
Q3U492 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078112
AA Change: P882L
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000077251
Gene: ENSMUSG00000059022
AA Change: P882L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
SCOP:d1fxkc_
|
64 |
91 |
7e-3 |
SMART |
|
VWC
|
136 |
190 |
1.41e-13 |
SMART |
|
VWC
|
194 |
250 |
1.24e-9 |
SMART |
|
VWC
|
255 |
311 |
4.55e-8 |
SMART |
|
VWC
|
314 |
369 |
8.88e-11 |
SMART |
|
VWC
|
428 |
484 |
9.15e-13 |
SMART |
|
VWC
|
487 |
543 |
7.61e-10 |
SMART |
|
VWC
|
546 |
601 |
4.05e-5 |
SMART |
|
VWC
|
604 |
660 |
8.28e-11 |
SMART |
|
VWC
|
667 |
723 |
6.58e-5 |
SMART |
|
VWC
|
726 |
780 |
2.14e-4 |
SMART |
|
VWC
|
783 |
839 |
1.98e-8 |
SMART |
|
VWC
|
842 |
898 |
1.35e-1 |
SMART |
|
VWC
|
901 |
957 |
5.77e-10 |
SMART |
|
VWC
|
960 |
1015 |
1.21e-3 |
SMART |
|
VWC
|
1018 |
1083 |
2.44e-8 |
SMART |
|
VWC
|
1090 |
1143 |
1.05e-3 |
SMART |
|
VWC
|
1150 |
1207 |
2.93e-11 |
SMART |
|
Pfam:VWD
|
1214 |
1254 |
4.9e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091391
AA Change: P882L
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000088954
Gene: ENSMUSG00000059022
AA Change: P882L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
SCOP:d1fxkc_
|
64 |
91 |
7e-3 |
SMART |
|
VWC
|
136 |
190 |
1.41e-13 |
SMART |
|
VWC
|
194 |
250 |
1.24e-9 |
SMART |
|
VWC
|
255 |
311 |
4.55e-8 |
SMART |
|
VWC
|
314 |
369 |
8.88e-11 |
SMART |
|
VWC
|
428 |
484 |
9.15e-13 |
SMART |
|
VWC
|
487 |
543 |
7.61e-10 |
SMART |
|
VWC
|
546 |
601 |
4.05e-5 |
SMART |
|
VWC
|
604 |
660 |
8.28e-11 |
SMART |
|
VWC
|
667 |
723 |
6.58e-5 |
SMART |
|
VWC
|
726 |
780 |
2.14e-4 |
SMART |
|
VWC
|
783 |
839 |
1.98e-8 |
SMART |
|
VWC
|
842 |
898 |
1.35e-1 |
SMART |
|
VWC
|
901 |
957 |
5.77e-10 |
SMART |
|
VWC
|
960 |
1015 |
1.21e-3 |
SMART |
|
VWC
|
1018 |
1082 |
6.53e-9 |
SMART |
|
VWC
|
1089 |
1142 |
1.05e-3 |
SMART |
|
VWC
|
1149 |
1206 |
2.93e-11 |
SMART |
|
Pfam:VWD
|
1213 |
1253 |
4.6e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101614
AA Change: P882L
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000099135
Gene: ENSMUSG00000059022
AA Change: P882L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
SCOP:d1fxkc_
|
64 |
91 |
8e-3 |
SMART |
|
VWC
|
136 |
190 |
1.41e-13 |
SMART |
|
VWC
|
194 |
250 |
1.24e-9 |
SMART |
|
VWC
|
255 |
311 |
4.55e-8 |
SMART |
|
VWC
|
314 |
369 |
8.88e-11 |
SMART |
|
VWC
|
428 |
484 |
9.15e-13 |
SMART |
|
VWC
|
487 |
543 |
7.61e-10 |
SMART |
|
VWC
|
546 |
601 |
4.05e-5 |
SMART |
|
VWC
|
604 |
660 |
8.28e-11 |
SMART |
|
VWC
|
667 |
723 |
6.58e-5 |
SMART |
|
VWC
|
726 |
780 |
2.14e-4 |
SMART |
|
VWC
|
783 |
839 |
1.98e-8 |
SMART |
|
VWC
|
842 |
898 |
1.35e-1 |
SMART |
|
VWC
|
901 |
957 |
5.77e-10 |
SMART |
|
VWC
|
960 |
1015 |
1.21e-3 |
SMART |
|
VWC
|
1018 |
1083 |
2.44e-8 |
SMART |
|
VWC
|
1090 |
1143 |
1.05e-3 |
SMART |
|
VWC
|
1150 |
1207 |
2.93e-11 |
SMART |
|
VWD
|
1201 |
1362 |
6.09e-50 |
SMART |
|
C8
|
1404 |
1479 |
1.55e-34 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158018
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159479
AA Change: P153L
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000124771
Gene: ENSMUSG00000059022
AA Change: P153L
| Domain | Start | End | E-Value | Type |
|---|
|
VWC
|
1 |
51 |
4.56e-1 |
SMART |
|
VWC
|
54 |
110 |
1.98e-8 |
SMART |
|
VWC
|
113 |
169 |
1.35e-1 |
SMART |
|
VWC
|
172 |
228 |
5.77e-10 |
SMART |
|
VWC
|
231 |
286 |
1.21e-3 |
SMART |
|
VWC
|
289 |
353 |
6.53e-9 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162959
|
| Meta Mutation Damage Score |
0.0604 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.0%
- 20x: 91.3%
|
| Validation Efficiency |
100% (54/54) |
| MGI Phenotype |
PHENOTYPE: Homozygous null mice display increased sensitivity to renal injury. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak2 |
T |
C |
12: 112,748,936 (GRCm39) |
N304D |
probably benign |
Het |
| Akr7a5 |
T |
C |
4: 139,038,333 (GRCm39) |
S90P |
probably damaging |
Het |
| Aplnr |
T |
A |
2: 84,967,128 (GRCm39) |
V51E |
probably damaging |
Het |
| Arhgap21 |
A |
T |
2: 20,884,848 (GRCm39) |
H776Q |
probably damaging |
Het |
| Asxl3 |
C |
G |
18: 22,658,356 (GRCm39) |
A2122G |
possibly damaging |
Het |
| Bsn |
T |
A |
9: 107,989,152 (GRCm39) |
Y2200F |
probably damaging |
Het |
| Btbd10 |
A |
T |
7: 112,925,043 (GRCm39) |
D268E |
probably damaging |
Het |
| Cacna1h |
T |
C |
17: 25,616,782 (GRCm39) |
N113D |
probably damaging |
Het |
| Cfap54 |
T |
C |
10: 92,902,628 (GRCm39) |
N175D |
probably benign |
Het |
| Cfap61 |
A |
G |
2: 145,943,956 (GRCm39) |
D134G |
probably damaging |
Het |
| Clybl |
A |
T |
14: 122,616,701 (GRCm39) |
I239L |
possibly damaging |
Het |
| Defb11 |
A |
T |
8: 22,396,352 (GRCm39) |
F15Y |
probably damaging |
Het |
| Dlc1 |
A |
G |
8: 37,051,647 (GRCm39) |
S695P |
probably benign |
Het |
| Fbxl5 |
T |
C |
5: 43,916,114 (GRCm39) |
K432E |
probably benign |
Het |
| Fryl |
T |
C |
5: 73,215,098 (GRCm39) |
E2226G |
probably benign |
Het |
| Gm10337 |
T |
A |
15: 102,412,306 (GRCm39) |
|
probably null |
Het |
| Gm5828 |
A |
G |
1: 16,839,516 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8674 |
A |
T |
13: 50,053,870 (GRCm39) |
|
noncoding transcript |
Het |
| Ighv6-5 |
T |
C |
12: 114,380,191 (GRCm39) |
|
probably null |
Het |
| Insyn2a |
A |
T |
7: 134,520,284 (GRCm39) |
V82E |
probably benign |
Het |
| Ints14 |
C |
A |
9: 64,871,694 (GRCm39) |
L11M |
probably damaging |
Het |
| Lrrk2 |
A |
C |
15: 91,649,993 (GRCm39) |
N1710T |
probably benign |
Het |
| Marchf10 |
T |
A |
11: 105,280,933 (GRCm39) |
T451S |
possibly damaging |
Het |
| Mcf2l |
T |
G |
8: 12,965,959 (GRCm39) |
|
probably benign |
Het |
| Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
| Neurod2 |
T |
A |
11: 98,218,063 (GRCm39) |
H367L |
possibly damaging |
Het |
| Nfatc4 |
A |
T |
14: 56,069,875 (GRCm39) |
Q681L |
probably damaging |
Het |
| Nkx3-2 |
T |
C |
5: 41,919,220 (GRCm39) |
N256S |
probably damaging |
Het |
| Ntng1 |
G |
A |
3: 110,042,661 (GRCm39) |
T55M |
possibly damaging |
Het |
| Snd1 |
C |
A |
6: 28,888,239 (GRCm39) |
N891K |
probably damaging |
Het |
| Syt7 |
T |
C |
19: 10,420,222 (GRCm39) |
V382A |
possibly damaging |
Het |
| Trim72 |
T |
C |
7: 127,609,139 (GRCm39) |
S314P |
possibly damaging |
Het |
| Ttc41 |
T |
C |
10: 86,580,408 (GRCm39) |
S785P |
probably damaging |
Het |
| Ube2z |
C |
T |
11: 95,953,835 (GRCm39) |
V128I |
probably benign |
Het |
| Vps26c |
T |
A |
16: 94,327,263 (GRCm39) |
|
probably benign |
Het |
| Wdr43 |
T |
C |
17: 71,933,849 (GRCm39) |
Y149H |
probably benign |
Het |
| Wnk4 |
T |
A |
11: 101,153,682 (GRCm39) |
V248E |
probably damaging |
Het |
| Zcchc2 |
A |
T |
1: 105,958,694 (GRCm39) |
N1055I |
probably damaging |
Het |
| Zdhhc23 |
T |
C |
16: 43,794,134 (GRCm39) |
Y180C |
probably benign |
Het |
|
| Other mutations in Kcp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00474:Kcp
|
APN |
6 |
29,482,656 (GRCm39) |
missense |
probably benign |
|
|
IGL01344:Kcp
|
APN |
6 |
29,498,950 (GRCm39) |
splice site |
probably null |
|
|
IGL01404:Kcp
|
APN |
6 |
29,496,638 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01735:Kcp
|
APN |
6 |
29,498,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01776:Kcp
|
APN |
6 |
29,497,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02092:Kcp
|
APN |
6 |
29,489,031 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02252:Kcp
|
APN |
6 |
29,504,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02690:Kcp
|
APN |
6 |
29,484,998 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02817:Kcp
|
APN |
6 |
29,496,968 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03074:Kcp
|
APN |
6 |
29,496,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0045:Kcp
|
UTSW |
6 |
29,498,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0219:Kcp
|
UTSW |
6 |
29,495,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0355:Kcp
|
UTSW |
6 |
29,496,926 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0738:Kcp
|
UTSW |
6 |
29,490,438 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1111:Kcp
|
UTSW |
6 |
29,485,422 (GRCm39) |
missense |
probably benign |
|
|
R1304:Kcp
|
UTSW |
6 |
29,501,291 (GRCm39) |
unclassified |
probably benign |
|
|
R1663:Kcp
|
UTSW |
6 |
29,498,964 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1808:Kcp
|
UTSW |
6 |
29,505,654 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1907:Kcp
|
UTSW |
6 |
29,497,834 (GRCm39) |
unclassified |
probably benign |
|
|
R2030:Kcp
|
UTSW |
6 |
29,489,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2099:Kcp
|
UTSW |
6 |
29,496,164 (GRCm39) |
nonsense |
probably null |
|
|
R3411:Kcp
|
UTSW |
6 |
29,482,845 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R3982:Kcp
|
UTSW |
6 |
29,484,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3983:Kcp
|
UTSW |
6 |
29,484,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4223:Kcp
|
UTSW |
6 |
29,482,257 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R4377:Kcp
|
UTSW |
6 |
29,493,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4570:Kcp
|
UTSW |
6 |
29,491,847 (GRCm39) |
nonsense |
probably null |
|
|
R4624:Kcp
|
UTSW |
6 |
29,482,813 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4694:Kcp
|
UTSW |
6 |
29,493,196 (GRCm39) |
missense |
probably benign |
0.29 |
|
R4750:Kcp
|
UTSW |
6 |
29,484,625 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4968:Kcp
|
UTSW |
6 |
29,497,628 (GRCm39) |
nonsense |
probably null |
|
|
R5053:Kcp
|
UTSW |
6 |
29,496,957 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5253:Kcp
|
UTSW |
6 |
29,498,519 (GRCm39) |
unclassified |
probably benign |
|
|
R5418:Kcp
|
UTSW |
6 |
29,504,283 (GRCm39) |
nonsense |
probably null |
|
|
R6020:Kcp
|
UTSW |
6 |
29,502,863 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6033:Kcp
|
UTSW |
6 |
29,493,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6033:Kcp
|
UTSW |
6 |
29,493,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6088:Kcp
|
UTSW |
6 |
29,502,631 (GRCm39) |
missense |
probably benign |
|
|
R6178:Kcp
|
UTSW |
6 |
29,482,887 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6285:Kcp
|
UTSW |
6 |
29,502,364 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6310:Kcp
|
UTSW |
6 |
29,493,257 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6369:Kcp
|
UTSW |
6 |
29,484,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6860:Kcp
|
UTSW |
6 |
29,505,719 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6949:Kcp
|
UTSW |
6 |
29,484,611 (GRCm39) |
splice site |
probably null |
|
|
R6962:Kcp
|
UTSW |
6 |
29,482,839 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7006:Kcp
|
UTSW |
6 |
29,499,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7138:Kcp
|
UTSW |
6 |
29,491,861 (GRCm39) |
nonsense |
probably null |
|
|
R7141:Kcp
|
UTSW |
6 |
29,487,511 (GRCm39) |
nonsense |
probably null |
|
|
R7153:Kcp
|
UTSW |
6 |
29,499,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7162:Kcp
|
UTSW |
6 |
29,497,199 (GRCm39) |
splice site |
probably null |
|
|
R7334:Kcp
|
UTSW |
6 |
29,485,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7565:Kcp
|
UTSW |
6 |
29,499,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7671:Kcp
|
UTSW |
6 |
29,496,516 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7766:Kcp
|
UTSW |
6 |
29,496,846 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7781:Kcp
|
UTSW |
6 |
29,497,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8702:Kcp
|
UTSW |
6 |
29,482,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9384:Kcp
|
UTSW |
6 |
29,496,618 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9425:Kcp
|
UTSW |
6 |
29,489,151 (GRCm39) |
missense |
probably benign |
|
|
R9553:Kcp
|
UTSW |
6 |
29,485,100 (GRCm39) |
missense |
probably null |
1.00 |
|
R9752:Kcp
|
UTSW |
6 |
29,497,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9755:Kcp
|
UTSW |
6 |
29,492,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Kcp
|
UTSW |
6 |
29,485,011 (GRCm39) |
missense |
probably benign |
0.23 |
|
Z1177:Kcp
|
UTSW |
6 |
29,485,524 (GRCm39) |
missense |
probably benign |
0.45 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTACGGGAGATACACTTC -3'
(R):5'- GGAAAGAGTTGTCTGCACCTAG -3'
Sequencing Primer
(F):5'- TCCTGTGGGAAGGGGGTCC -3'
(R):5'- GTCTGCACCTAGGTTGCAATGAAC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation