Incidental Mutation 'R6536:Cripto'
| ID |
520419 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cripto
|
| Ensembl Gene |
ENSMUSG00000032494 |
| Gene Name |
cripto, EGF-CFC family member |
| Synonyms |
CR1, Tdgf1 |
| MMRRC Submission |
044662-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.268)
|
| Stock # |
R6536 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
110768676-110775226 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 110773257 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143669
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035075]
[ENSMUST00000197460]
[ENSMUST00000199196]
[ENSMUST00000199782]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000035075
|
| SMART Domains |
Protein: ENSMUSP00000035075
Gene: ENSMUSG00000032494
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
EGF
|
65 |
91 |
1.8e1 |
SMART |
|
Pfam:CFC
|
99 |
133 |
2.7e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197460
|
| SMART Domains |
Protein: ENSMUSP00000143394
Gene: ENSMUSG00000032494
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000199196
|
| SMART Domains |
Protein: ENSMUSP00000142397
Gene: ENSMUSG00000032494
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000199782
|
| SMART Domains |
Protein: ENSMUSP00000143669
Gene: ENSMUSG00000032494
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
EGF
|
31 |
57 |
8.9e-2 |
SMART |
|
Pfam:CFC
|
65 |
90 |
1.4e-11 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (36/36) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an epidermal growth factor-related protein that contains a cripto, FRL-1, and cryptic domain. The encoded protein is an extracellular, membrane-bound signaling protein that plays an essential role in embryonic development and tumor growth. Mutations in this gene are associated with forebrain defects. Pseudogenes of this gene are found on chromosomes 2, 3, 6, 8, 19 and X. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene display abnormalities in rostral-caudal axis formation, embryonic development and heart development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik2 |
G |
T |
11: 48,910,550 (GRCm39) |
H628N |
probably benign |
Het |
| Abcb1a |
T |
A |
5: 8,769,030 (GRCm39) |
F751I |
probably benign |
Het |
| Adamts13 |
G |
A |
2: 26,865,762 (GRCm39) |
V106M |
probably damaging |
Het |
| Add1 |
C |
A |
5: 34,758,780 (GRCm39) |
N31K |
possibly damaging |
Het |
| Adgrf5 |
G |
T |
17: 43,733,552 (GRCm39) |
|
probably benign |
Het |
| Akap11 |
T |
G |
14: 78,748,754 (GRCm39) |
D1211A |
possibly damaging |
Het |
| Atp5f1c |
G |
A |
2: 10,085,127 (GRCm39) |
|
probably benign |
Het |
| Cd320 |
T |
C |
17: 34,066,477 (GRCm39) |
S72P |
probably benign |
Het |
| Clca4b |
C |
A |
3: 144,622,490 (GRCm39) |
W525L |
possibly damaging |
Het |
| Csmd3 |
G |
A |
15: 47,701,863 (GRCm39) |
T1740I |
probably damaging |
Het |
| Dnah7c |
T |
G |
1: 46,697,450 (GRCm39) |
S2122A |
probably benign |
Het |
| Enpp2 |
T |
C |
15: 54,726,027 (GRCm39) |
N583S |
probably damaging |
Het |
| Fcsk |
A |
G |
8: 111,610,511 (GRCm39) |
V964A |
possibly damaging |
Het |
| Gpd2 |
A |
T |
2: 57,235,367 (GRCm39) |
I366F |
probably benign |
Het |
| Hsd17b2 |
G |
A |
8: 118,428,921 (GRCm39) |
V63M |
possibly damaging |
Het |
| Hsdl2 |
A |
T |
4: 59,610,508 (GRCm39) |
|
probably null |
Het |
| Idh3b |
AG |
AGCACCACAACTG |
2: 130,121,593 (GRCm39) |
|
probably null |
Het |
| Ifi44 |
A |
G |
3: 151,438,126 (GRCm39) |
V387A |
probably benign |
Het |
| Kcnc4 |
T |
C |
3: 107,355,512 (GRCm39) |
D312G |
possibly damaging |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Klra6 |
C |
T |
6: 130,000,682 (GRCm39) |
V41I |
probably benign |
Het |
| Lrp1 |
A |
G |
10: 127,393,937 (GRCm39) |
|
probably null |
Het |
| Mpdz |
T |
C |
4: 81,301,654 (GRCm39) |
E257G |
probably damaging |
Het |
| Or10v1 |
T |
C |
19: 11,873,760 (GRCm39) |
V125A |
probably benign |
Het |
| Or4f14 |
T |
C |
2: 111,743,119 (GRCm39) |
D52G |
possibly damaging |
Het |
| Papln |
A |
G |
12: 83,828,661 (GRCm39) |
Y789C |
probably damaging |
Het |
| Pcdh15 |
T |
C |
10: 74,467,221 (GRCm39) |
L1680P |
probably damaging |
Het |
| Pcdhac1 |
A |
G |
18: 37,223,367 (GRCm39) |
N60S |
probably benign |
Het |
| Polr3g |
T |
C |
13: 81,826,335 (GRCm39) |
N162S |
unknown |
Het |
| Pou3f3 |
A |
G |
1: 42,737,374 (GRCm39) |
I357V |
probably damaging |
Het |
| Sycp2 |
A |
G |
2: 177,993,441 (GRCm39) |
S1235P |
probably damaging |
Het |
| Tns3 |
A |
T |
11: 8,384,531 (GRCm39) |
V1429E |
probably damaging |
Het |
| Trim67 |
T |
C |
8: 125,521,081 (GRCm39) |
S148P |
possibly damaging |
Het |
| Usp49 |
A |
T |
17: 47,990,617 (GRCm39) |
I348F |
probably damaging |
Het |
| Wac |
A |
T |
18: 7,905,189 (GRCm39) |
|
probably null |
Het |
| Zfp775 |
A |
G |
6: 48,596,543 (GRCm39) |
K139R |
probably damaging |
Het |
|
| Other mutations in Cripto |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02457:Cripto
|
APN |
9 |
110,771,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03037:Cripto
|
APN |
9 |
110,772,288 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1171:Cripto
|
UTSW |
9 |
110,772,235 (GRCm39) |
missense |
probably benign |
0.37 |
|
R3792:Cripto
|
UTSW |
9 |
110,772,258 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4012:Cripto
|
UTSW |
9 |
110,769,781 (GRCm39) |
missense |
probably benign |
|
|
R5488:Cripto
|
UTSW |
9 |
110,772,265 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5955:Cripto
|
UTSW |
9 |
110,773,281 (GRCm39) |
missense |
unknown |
|
|
R7624:Cripto
|
UTSW |
9 |
110,775,017 (GRCm39) |
start gained |
probably benign |
|
|
R8206:Cripto
|
UTSW |
9 |
110,773,352 (GRCm39) |
intron |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGACTTGGTGACATCCAGTTTC -3'
(R):5'- TAAGAGAGGGAACTTCTGTCCG -3'
Sequencing Primer
(F):5'- GGTGACATCCAGTTTCAAAAACCTG -3'
(R):5'- GAACTTCTGTCCGGTTTTGTTAC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation