Incidental Mutation 'R5572:Ret'
| ID |
435724 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ret
|
| Ensembl Gene |
ENSMUSG00000030110 |
| Gene Name |
ret proto-oncogene |
| Synonyms |
RET9, c-Ret, RET51 |
| MMRRC Submission |
043266-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.825)
|
| Stock # |
R5572 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
118128706-118174679 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 118132392 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 1016
(Y1016C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086169
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032201]
[ENSMUST00000088790]
|
| AlphaFold |
P35546 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032201
AA Change: Y1016C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032201
Gene: ENSMUSG00000030110
AA Change: Y1016C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
CA
|
191 |
271 |
1.11e-1 |
SMART |
|
low complexity region
|
638 |
656 |
N/A |
INTRINSIC |
|
TyrKc
|
725 |
1006 |
3.58e-148 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000088790
AA Change: Y1016C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000086169
Gene: ENSMUSG00000030110
AA Change: Y1016C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
CA
|
191 |
271 |
1.11e-1 |
SMART |
|
low complexity region
|
638 |
656 |
N/A |
INTRINSIC |
|
TyrKc
|
725 |
1006 |
3.58e-148 |
SMART |
|
| Meta Mutation Damage Score |
0.9549 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.2%
|
| Validation Efficiency |
100% (64/64) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene, a member of the cadherin superfamily, encodes one of the receptor tyrosine kinases, which are cell-surface molecules that transduce signals for cell growth and differentiation. This gene plays a crucial role in neural crest development, and it can undergo oncogenic activation in vivo and in vitro by cytogenetic rearrangement. Mutations in this gene are associated with the disorders multiple endocrine neoplasia, type IIA, multiple endocrine neoplasia, type IIB, Hirschsprung disease, and medullary thyroid carcinoma. Two transcript variants encoding different isoforms have been found for this gene. Additional transcript variants have been described but their biological validity has not been confirmed. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for some point mutations or knock-out alleles exhibit premature lethality, defects in neurogenesis, and abnormal kidney, ureter, ovary, muscle, and intestine morphology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
C |
T |
5: 8,765,108 (GRCm39) |
|
probably null |
Het |
| Abcd4 |
T |
C |
12: 84,653,050 (GRCm39) |
D380G |
probably benign |
Het |
| Actr3b |
T |
A |
5: 26,014,886 (GRCm39) |
D68E |
probably benign |
Het |
| Apol10a |
T |
C |
15: 77,372,834 (GRCm39) |
S157P |
probably damaging |
Het |
| Arap3 |
A |
T |
18: 38,124,119 (GRCm39) |
I327N |
probably damaging |
Het |
| Arnt |
G |
T |
3: 95,382,015 (GRCm39) |
V198L |
possibly damaging |
Het |
| Baiap3 |
T |
A |
17: 25,470,449 (GRCm39) |
D86V |
possibly damaging |
Het |
| Bcl9l |
G |
T |
9: 44,412,095 (GRCm39) |
R27L |
possibly damaging |
Het |
| Bltp2 |
A |
T |
11: 78,155,393 (GRCm39) |
D167V |
probably damaging |
Het |
| C1qc |
T |
C |
4: 136,619,773 (GRCm39) |
Y34C |
probably benign |
Het |
| C1rb |
T |
C |
6: 124,557,758 (GRCm39) |
S632P |
probably benign |
Het |
| C3 |
A |
G |
17: 57,531,673 (GRCm39) |
S284P |
probably damaging |
Het |
| Cfap44 |
T |
G |
16: 44,301,668 (GRCm39) |
V1802G |
possibly damaging |
Het |
| Cfhr1 |
A |
G |
1: 139,484,165 (GRCm39) |
V117A |
possibly damaging |
Het |
| Clca3b |
T |
C |
3: 144,533,070 (GRCm39) |
D654G |
probably damaging |
Het |
| Col17a1 |
A |
T |
19: 47,639,168 (GRCm39) |
S1126T |
probably benign |
Het |
| Cts3 |
T |
A |
13: 61,712,782 (GRCm39) |
I313F |
probably damaging |
Het |
| Egfl7 |
T |
C |
2: 26,481,703 (GRCm39) |
V6A |
possibly damaging |
Het |
| Eif2s3y |
G |
A |
Y: 1,016,631 (GRCm39) |
D272N |
probably damaging |
Het |
| Foxp4 |
A |
G |
17: 48,191,804 (GRCm39) |
V111A |
unknown |
Het |
| Hmcn2 |
A |
T |
2: 31,304,537 (GRCm39) |
|
probably null |
Het |
| Hmcn2 |
G |
A |
2: 31,304,538 (GRCm39) |
|
probably null |
Het |
| Igsf11 |
C |
T |
16: 38,845,294 (GRCm39) |
R283C |
probably damaging |
Het |
| Il1a |
A |
G |
2: 129,149,838 (GRCm39) |
Y21H |
possibly damaging |
Het |
| Il6ra |
A |
T |
3: 89,778,589 (GRCm39) |
V420D |
probably damaging |
Het |
| Kdm5a |
T |
C |
6: 120,389,336 (GRCm39) |
V921A |
possibly damaging |
Het |
| Kirrel3 |
G |
A |
9: 34,912,244 (GRCm39) |
A196T |
probably damaging |
Het |
| Klra1 |
T |
A |
6: 130,349,802 (GRCm39) |
D212V |
possibly damaging |
Het |
| N4bp2l2 |
G |
A |
5: 150,585,755 (GRCm39) |
T75I |
probably benign |
Het |
| Niban1 |
T |
C |
1: 151,584,941 (GRCm39) |
S513P |
probably benign |
Het |
| Nnmt |
A |
G |
9: 48,503,447 (GRCm39) |
L193P |
probably damaging |
Het |
| Npdc1 |
G |
A |
2: 25,298,957 (GRCm39) |
D284N |
probably damaging |
Het |
| Ntm |
A |
G |
9: 28,925,512 (GRCm39) |
I191T |
probably damaging |
Het |
| Or2ak5 |
A |
G |
11: 58,611,055 (GRCm39) |
V273A |
probably benign |
Het |
| Or52d13 |
A |
C |
7: 103,109,905 (GRCm39) |
L170R |
probably benign |
Het |
| Or52h7 |
A |
T |
7: 104,214,201 (GRCm39) |
T258S |
probably benign |
Het |
| Pam |
A |
C |
1: 97,782,469 (GRCm39) |
|
probably benign |
Het |
| Pomk |
T |
A |
8: 26,473,218 (GRCm39) |
H245L |
possibly damaging |
Het |
| Rapgef4 |
G |
A |
2: 71,864,464 (GRCm39) |
|
probably null |
Het |
| Rasip1 |
G |
T |
7: 45,286,153 (GRCm39) |
R792L |
probably benign |
Het |
| Rhbdd1 |
A |
T |
1: 82,318,531 (GRCm39) |
N138I |
possibly damaging |
Het |
| Snx13 |
T |
G |
12: 35,153,119 (GRCm39) |
V383G |
probably damaging |
Het |
| Syt3 |
A |
G |
7: 44,040,142 (GRCm39) |
H125R |
probably benign |
Het |
| Tlr6 |
A |
T |
5: 65,112,361 (GRCm39) |
L182Q |
probably damaging |
Het |
| Tlr9 |
T |
C |
9: 106,102,836 (GRCm39) |
V709A |
possibly damaging |
Het |
| Tmprss6 |
T |
C |
15: 78,326,622 (GRCm39) |
Y655C |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,683,972 (GRCm39) |
|
probably benign |
Het |
| Ube3a |
T |
C |
7: 58,938,525 (GRCm39) |
I761T |
probably damaging |
Het |
| Ube3b |
G |
A |
5: 114,544,240 (GRCm39) |
D546N |
probably damaging |
Het |
| Ugt2b36 |
A |
G |
5: 87,237,341 (GRCm39) |
V188A |
possibly damaging |
Het |
| Usp29 |
A |
G |
7: 6,965,191 (GRCm39) |
I345V |
probably benign |
Het |
| Vmn2r78 |
A |
G |
7: 86,564,720 (GRCm39) |
K55R |
probably benign |
Het |
| Wdsub1 |
A |
G |
2: 59,693,051 (GRCm39) |
F288L |
possibly damaging |
Het |
| Zan |
C |
T |
5: 137,392,693 (GRCm39) |
V4601M |
unknown |
Het |
| Zbtb8b |
T |
C |
4: 129,322,334 (GRCm39) |
K376E |
probably damaging |
Het |
| Zfp619 |
A |
T |
7: 39,184,663 (GRCm39) |
Y231F |
probably benign |
Het |
|
| Other mutations in Ret |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02255:Ret
|
APN |
6 |
118,152,081 (GRCm39) |
splice site |
probably null |
|
|
IGL02445:Ret
|
APN |
6 |
118,158,860 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02754:Ret
|
APN |
6 |
118,153,213 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02828:Ret
|
APN |
6 |
118,153,168 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03058:Ret
|
APN |
6 |
118,152,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4151001:Ret
|
UTSW |
6 |
118,141,702 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0126:Ret
|
UTSW |
6 |
118,142,956 (GRCm39) |
splice site |
probably benign |
|
|
R0555:Ret
|
UTSW |
6 |
118,155,571 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1168:Ret
|
UTSW |
6 |
118,150,519 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1829:Ret
|
UTSW |
6 |
118,130,912 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2020:Ret
|
UTSW |
6 |
118,157,343 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4082:Ret
|
UTSW |
6 |
118,130,927 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4732:Ret
|
UTSW |
6 |
118,140,154 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4733:Ret
|
UTSW |
6 |
118,140,154 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5356:Ret
|
UTSW |
6 |
118,174,079 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5401:Ret
|
UTSW |
6 |
118,158,936 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5669:Ret
|
UTSW |
6 |
118,161,204 (GRCm39) |
missense |
probably benign |
|
|
R6058:Ret
|
UTSW |
6 |
118,156,280 (GRCm39) |
missense |
probably benign |
|
|
R6087:Ret
|
UTSW |
6 |
118,153,252 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6412:Ret
|
UTSW |
6 |
118,161,245 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6457:Ret
|
UTSW |
6 |
118,150,582 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6884:Ret
|
UTSW |
6 |
118,132,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7035:Ret
|
UTSW |
6 |
118,140,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7112:Ret
|
UTSW |
6 |
118,174,063 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7841:Ret
|
UTSW |
6 |
118,132,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7947:Ret
|
UTSW |
6 |
118,151,305 (GRCm39) |
missense |
probably benign |
0.32 |
|
R8539:Ret
|
UTSW |
6 |
118,152,770 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R8556:Ret
|
UTSW |
6 |
118,146,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8742:Ret
|
UTSW |
6 |
118,155,484 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8904:Ret
|
UTSW |
6 |
118,157,174 (GRCm39) |
splice site |
probably benign |
|
|
R9051:Ret
|
UTSW |
6 |
118,142,888 (GRCm39) |
nonsense |
probably null |
|
|
R9323:Ret
|
UTSW |
6 |
118,158,975 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9661:Ret
|
UTSW |
6 |
118,150,437 (GRCm39) |
missense |
probably benign |
|
|
R9674:Ret
|
UTSW |
6 |
118,130,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Ret
|
UTSW |
6 |
118,140,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Ret
|
UTSW |
6 |
118,130,851 (GRCm39) |
missense |
probably benign |
0.40 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCGGTGGGATCAGAAACACTC -3'
(R):5'- AGTGTTACCCTCCAGGATGG -3'
Sequencing Primer
(F):5'- CAGCGTTGCTAGAATCTAGTAAATGC -3'
(R):5'- GAGGCTGTGGTCTTAACAGAG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation