Incidental Mutation 'R4950:Ntrk1'
| ID |
381904 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ntrk1
|
| Ensembl Gene |
ENSMUSG00000028072 |
| Gene Name |
neurotrophic tyrosine kinase, receptor, type 1 |
| Synonyms |
Tkr, TrkA |
| MMRRC Submission |
042547-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4950 (G1)
|
| Quality Score |
223 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
87778244-87795162 bp(-) (GRCm38) |
| Type of Mutation |
splice site (6 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 87789611 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029712
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029712]
[ENSMUST00000029714]
[ENSMUST00000090981]
|
| AlphaFold |
Q3UFB7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000029712
|
| SMART Domains |
Protein: ENSMUSP00000029712
Gene: ENSMUSG00000028072
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
|
Pfam:LRR_8
|
91 |
150 |
8.9e-14 |
PFAM |
|
Pfam:TPKR_C2
|
151 |
194 |
4.9e-15 |
PFAM |
|
IG
|
202 |
285 |
3.2e-2 |
SMART |
|
low complexity region
|
419 |
442 |
N/A |
INTRINSIC |
|
TyrKc
|
513 |
784 |
2.31e-142 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029714
|
| SMART Domains |
Protein: ENSMUSP00000029714
Gene: ENSMUSG00000028073
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
67 |
78 |
N/A |
INTRINSIC |
|
EGF
|
102 |
130 |
3.82e-2 |
SMART |
|
EGF_like
|
132 |
173 |
2.92e1 |
SMART |
|
EGF_like
|
146 |
185 |
1.92e0 |
SMART |
|
EGF_like
|
189 |
246 |
1.99e0 |
SMART |
|
EGF
|
217 |
258 |
1.04e1 |
SMART |
|
EGF_Lam
|
274 |
313 |
1.21e-4 |
SMART |
|
EGF
|
312 |
344 |
4.03e-1 |
SMART |
|
EGF_Lam
|
361 |
402 |
1.33e-1 |
SMART |
|
EGF
|
401 |
433 |
1.18e-2 |
SMART |
|
EGF_like
|
449 |
488 |
1.72e0 |
SMART |
|
EGF
|
487 |
519 |
6.92e0 |
SMART |
|
EGF_Lam
|
535 |
574 |
2.08e-3 |
SMART |
|
EGF
|
573 |
605 |
5.49e-3 |
SMART |
|
EGF_Lam
|
620 |
660 |
1.58e-3 |
SMART |
|
EGF
|
659 |
691 |
3.1e-2 |
SMART |
|
EGF
|
702 |
734 |
2.53e1 |
SMART |
|
transmembrane domain
|
754 |
776 |
N/A |
INTRINSIC |
|
low complexity region
|
809 |
822 |
N/A |
INTRINSIC |
|
low complexity region
|
829 |
835 |
N/A |
INTRINSIC |
|
low complexity region
|
954 |
971 |
N/A |
INTRINSIC |
|
low complexity region
|
993 |
1002 |
N/A |
INTRINSIC |
|
low complexity region
|
1019 |
1031 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090981
|
| SMART Domains |
Protein: ENSMUSP00000088503
Gene: ENSMUSG00000028073
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
67 |
78 |
N/A |
INTRINSIC |
|
EGF
|
102 |
130 |
3.82e-2 |
SMART |
|
EGF_like
|
132 |
173 |
2.92e1 |
SMART |
|
EGF_like
|
146 |
185 |
1.92e0 |
SMART |
|
EGF_like
|
189 |
246 |
1.99e0 |
SMART |
|
EGF
|
217 |
258 |
1.04e1 |
SMART |
|
EGF_Lam
|
274 |
313 |
1.21e-4 |
SMART |
|
EGF
|
312 |
344 |
4.03e-1 |
SMART |
|
EGF_Lam
|
361 |
402 |
1.33e-1 |
SMART |
|
EGF
|
401 |
433 |
1.18e-2 |
SMART |
|
EGF_like
|
449 |
488 |
1.72e0 |
SMART |
|
EGF
|
487 |
519 |
6.92e0 |
SMART |
|
EGF_Lam
|
535 |
574 |
2.08e-3 |
SMART |
|
EGF
|
573 |
605 |
5.49e-3 |
SMART |
|
EGF_Lam
|
620 |
660 |
1.58e-3 |
SMART |
|
EGF
|
659 |
691 |
3.1e-2 |
SMART |
|
EGF
|
702 |
734 |
2.53e1 |
SMART |
|
transmembrane domain
|
754 |
776 |
N/A |
INTRINSIC |
|
low complexity region
|
809 |
822 |
N/A |
INTRINSIC |
|
low complexity region
|
829 |
835 |
N/A |
INTRINSIC |
|
low complexity region
|
954 |
971 |
N/A |
INTRINSIC |
|
low complexity region
|
993 |
1002 |
N/A |
INTRINSIC |
|
low complexity region
|
1019 |
1031 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 92.9%
|
| Validation Efficiency |
100% (58/58) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the neurotrophic tyrosine kinase receptor (NTKR) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. The presence of this kinase leads to cell differentiation and may play a role in specifying sensory neuron subtypes. Mutations in this gene have been associated with congenital insensitivity to pain, anhidrosis, self-mutilating behavior, mental retardation and cancer. Alternate transcriptional splice variants of this gene have been found, but only three have been characterized to date. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutations result in premature death due to severe sensory and sympathetic neuropathies. A conditional mutant mouse exhibits defects in mast cell and B cell physiology. Homozygotes for a point mutation are normal, but are subject to pharmacological control of signalling. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bpifb9b |
A |
T |
2: 154,311,659 (GRCm38) |
D215V |
probably damaging |
Het |
| Cacna1i |
A |
G |
15: 80,368,671 (GRCm38) |
E625G |
probably damaging |
Het |
| Cage1 |
C |
T |
13: 38,023,326 (GRCm38) |
S181N |
possibly damaging |
Het |
| Ccdc36 |
A |
C |
9: 108,421,510 (GRCm38) |
S36R |
probably damaging |
Het |
| Ccdc73 |
A |
C |
2: 104,992,366 (GRCm38) |
I887L |
probably benign |
Het |
| Cfap65 |
T |
A |
1: 74,906,336 (GRCm38) |
K1408* |
probably null |
Het |
| Cngb1 |
C |
A |
8: 95,248,507 (GRCm38) |
G654W |
probably damaging |
Het |
| Cxcl15 |
A |
T |
5: 90,795,245 (GRCm38) |
E35D |
possibly damaging |
Het |
| Ddi1 |
A |
G |
9: 6,266,073 (GRCm38) |
S99P |
probably benign |
Het |
| Disp3 |
A |
T |
4: 148,258,126 (GRCm38) |
D622E |
possibly damaging |
Het |
| Dnajc22 |
G |
A |
15: 99,101,734 (GRCm38) |
V267I |
probably benign |
Het |
| Dph5 |
G |
A |
3: 115,928,643 (GRCm38) |
G257S |
probably benign |
Het |
| Elmo2 |
A |
T |
2: 165,314,813 (GRCm38) |
|
probably null |
Het |
| Fam186a |
T |
C |
15: 99,941,653 (GRCm38) |
R2237G |
unknown |
Het |
| Fez1 |
G |
A |
9: 36,867,882 (GRCm38) |
R285Q |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,946,932 (GRCm38) |
H101L |
probably damaging |
Het |
| Fsip2 |
G |
A |
2: 82,977,414 (GRCm38) |
C1359Y |
probably benign |
Het |
| Fxyd7 |
G |
A |
7: 31,047,390 (GRCm38) |
T15I |
probably benign |
Het |
| Gpr155 |
A |
T |
2: 73,382,185 (GRCm38) |
D31E |
probably benign |
Het |
| Irx6 |
A |
T |
8: 92,678,800 (GRCm38) |
Y432F |
probably damaging |
Het |
| Itih5 |
A |
C |
2: 10,235,081 (GRCm38) |
I340L |
probably damaging |
Het |
| Lao1 |
T |
C |
4: 118,965,375 (GRCm38) |
L164S |
probably damaging |
Het |
| Mcoln3 |
T |
C |
3: 146,139,519 (GRCm38) |
I490T |
probably damaging |
Het |
| Mef2b |
T |
C |
8: 70,167,196 (GRCm38) |
Y311H |
probably damaging |
Het |
| Mras |
A |
T |
9: 99,394,484 (GRCm38) |
L111Q |
probably damaging |
Het |
| Mrc1 |
A |
G |
2: 14,271,280 (GRCm38) |
D475G |
probably damaging |
Het |
| Nrcam |
T |
C |
12: 44,598,490 (GRCm38) |
I1155T |
probably damaging |
Het |
| Olfr58 |
G |
A |
9: 19,783,731 (GRCm38) |
M199I |
probably benign |
Het |
| Olfr885 |
T |
C |
9: 38,062,001 (GRCm38) |
I227T |
probably damaging |
Het |
| Parp9 |
A |
T |
16: 35,948,007 (GRCm38) |
I186F |
probably damaging |
Het |
| Pcdhac2 |
T |
A |
18: 37,145,230 (GRCm38) |
V421E |
probably benign |
Het |
| Pck1 |
T |
A |
2: 173,154,827 (GRCm38) |
I178K |
probably benign |
Het |
| Pde6b |
A |
G |
5: 108,430,703 (GRCm38) |
K836E |
probably benign |
Het |
| Ptprd |
T |
A |
4: 76,140,515 (GRCm38) |
|
probably null |
Het |
| Pwp2 |
A |
G |
10: 78,183,006 (GRCm38) |
Y56H |
probably benign |
Het |
| Rarb |
G |
A |
14: 16,432,085 (GRCm38) |
|
probably benign |
Het |
| Rpain |
C |
G |
11: 70,970,921 (GRCm38) |
H50Q |
probably benign |
Het |
| Rps9 |
CTGTTTG |
CTG |
7: 3,704,759 (GRCm38) |
|
probably null |
Het |
| Rubcn |
A |
T |
16: 32,843,193 (GRCm38) |
S358T |
probably damaging |
Het |
| Ryr2 |
G |
A |
13: 11,742,011 (GRCm38) |
R1586C |
probably damaging |
Het |
| Slfn9 |
T |
C |
11: 82,981,904 (GRCm38) |
I669V |
probably benign |
Het |
| Slx1b |
T |
C |
7: 126,691,767 (GRCm38) |
|
probably benign |
Het |
| Spsb3 |
T |
A |
17: 24,887,511 (GRCm38) |
|
probably benign |
Het |
| Tbx15 |
A |
G |
3: 99,326,384 (GRCm38) |
I288V |
possibly damaging |
Het |
| Tlr2 |
C |
A |
3: 83,837,332 (GRCm38) |
E481D |
probably damaging |
Het |
| Trim17 |
A |
T |
11: 58,970,428 (GRCm38) |
D253V |
probably damaging |
Het |
| Trim69 |
A |
G |
2: 122,178,746 (GRCm38) |
D429G |
probably damaging |
Het |
| Vstm5 |
A |
G |
9: 15,257,794 (GRCm38) |
|
probably null |
Het |
| Vwa3b |
A |
G |
1: 37,085,332 (GRCm38) |
Q337R |
probably benign |
Het |
| Zfp113 |
T |
C |
5: 138,145,472 (GRCm38) |
N172S |
probably benign |
Het |
| Zfp607a |
T |
A |
7: 27,878,751 (GRCm38) |
H415Q |
probably damaging |
Het |
| Zfp87 |
G |
A |
13: 67,517,899 (GRCm38) |
T148I |
probably benign |
Het |
|
| Other mutations in Ntrk1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00236:Ntrk1
|
APN |
3 |
87,791,438 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL00756:Ntrk1
|
APN |
3 |
87,783,697 (GRCm38) |
missense |
probably benign |
0.05 |
|
IGL01340:Ntrk1
|
APN |
3 |
87,788,714 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
IGL02262:Ntrk1
|
APN |
3 |
87,781,797 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02268:Ntrk1
|
APN |
3 |
87,781,531 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02290:Ntrk1
|
APN |
3 |
87,781,771 (GRCm38) |
missense |
probably benign |
0.11 |
|
IGL02435:Ntrk1
|
APN |
3 |
87,788,732 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL03007:Ntrk1
|
APN |
3 |
87,782,743 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
PIT4802001:Ntrk1
|
UTSW |
3 |
87,788,634 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0015:Ntrk1
|
UTSW |
3 |
87,791,750 (GRCm38) |
intron |
probably benign |
|
|
R0140:Ntrk1
|
UTSW |
3 |
87,778,568 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0269:Ntrk1
|
UTSW |
3 |
87,783,933 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R0457:Ntrk1
|
UTSW |
3 |
87,791,707 (GRCm38) |
missense |
probably benign |
|
|
R0617:Ntrk1
|
UTSW |
3 |
87,783,933 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R1144:Ntrk1
|
UTSW |
3 |
87,781,542 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1152:Ntrk1
|
UTSW |
3 |
87,778,593 (GRCm38) |
missense |
probably benign |
0.33 |
|
R1439:Ntrk1
|
UTSW |
3 |
87,789,611 (GRCm38) |
splice site |
probably null |
|
|
R1588:Ntrk1
|
UTSW |
3 |
87,780,077 (GRCm38) |
nonsense |
probably null |
|
|
R1764:Ntrk1
|
UTSW |
3 |
87,780,084 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1766:Ntrk1
|
UTSW |
3 |
87,778,518 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1771:Ntrk1
|
UTSW |
3 |
87,789,630 (GRCm38) |
missense |
probably benign |
|
|
R2264:Ntrk1
|
UTSW |
3 |
87,779,634 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2377:Ntrk1
|
UTSW |
3 |
87,791,407 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R4059:Ntrk1
|
UTSW |
3 |
87,781,479 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5107:Ntrk1
|
UTSW |
3 |
87,794,973 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5805:Ntrk1
|
UTSW |
3 |
87,780,172 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6073:Ntrk1
|
UTSW |
3 |
87,791,370 (GRCm38) |
splice site |
probably null |
|
|
R6372:Ntrk1
|
UTSW |
3 |
87,786,048 (GRCm38) |
missense |
probably benign |
|
|
R6894:Ntrk1
|
UTSW |
3 |
87,782,802 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6972:Ntrk1
|
UTSW |
3 |
87,783,981 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6973:Ntrk1
|
UTSW |
3 |
87,783,981 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7309:Ntrk1
|
UTSW |
3 |
87,795,077 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7693:Ntrk1
|
UTSW |
3 |
87,788,426 (GRCm38) |
missense |
probably benign |
|
|
R7836:Ntrk1
|
UTSW |
3 |
87,779,734 (GRCm38) |
nonsense |
probably null |
|
|
R8311:Ntrk1
|
UTSW |
3 |
87,781,563 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8458:Ntrk1
|
UTSW |
3 |
87,791,669 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8726:Ntrk1
|
UTSW |
3 |
87,786,089 (GRCm38) |
missense |
probably benign |
0.10 |
|
R8791:Ntrk1
|
UTSW |
3 |
87,779,683 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8796:Ntrk1
|
UTSW |
3 |
87,783,115 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8936:Ntrk1
|
UTSW |
3 |
87,786,059 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R9234:Ntrk1
|
UTSW |
3 |
87,788,315 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9324:Ntrk1
|
UTSW |
3 |
87,791,438 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGTCCTGCAGGCTCTACTTG -3'
(R):5'- CGTAGCACGATGTTCAAGTTGAC -3'
Sequencing Primer
(F):5'- GCTGACAGGCATGCACATAATTG -3'
(R):5'- CAAGTTGACTTGCCTGGGGAC -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation