Incidental Mutation 'R7077:Srgap2'
ID |
549255 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Srgap2
|
Ensembl Gene |
ENSMUSG00000026425 |
Gene Name |
SLIT-ROBO Rho GTPase activating protein 2 |
Synonyms |
Fnbp2, 9930124L22Rik, FBP2 |
MMRRC Submission |
045172-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7077 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
131212989-131455090 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 131272187 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 33
(M33T)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097588]
[ENSMUST00000185596]
[ENSMUST00000186543]
|
AlphaFold |
Q91Z67 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097588
AA Change: M419T
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000095195 Gene: ENSMUSG00000026425 AA Change: M419T
Domain | Start | End | E-Value | Type |
FCH
|
22 |
120 |
7.33e-18 |
SMART |
low complexity region
|
178 |
191 |
N/A |
INTRINSIC |
coiled coil region
|
363 |
401 |
N/A |
INTRINSIC |
Blast:RhoGAP
|
445 |
490 |
7e-12 |
BLAST |
RhoGAP
|
502 |
676 |
9.6e-60 |
SMART |
SH3
|
731 |
786 |
4.52e-15 |
SMART |
low complexity region
|
852 |
868 |
N/A |
INTRINSIC |
coiled coil region
|
940 |
967 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000185596
AA Change: M278T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000141140 Gene: ENSMUSG00000026425 AA Change: M278T
Domain | Start | End | E-Value | Type |
low complexity region
|
37 |
50 |
N/A |
INTRINSIC |
coiled coil region
|
222 |
260 |
N/A |
INTRINSIC |
Blast:RhoGAP
|
304 |
349 |
5e-12 |
BLAST |
RhoGAP
|
361 |
535 |
5.9e-62 |
SMART |
SH3
|
590 |
645 |
2.8e-17 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000186543
AA Change: M419T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000139405 Gene: ENSMUSG00000026425 AA Change: M419T
Domain | Start | End | E-Value | Type |
FCH
|
22 |
120 |
3.7e-20 |
SMART |
low complexity region
|
178 |
191 |
N/A |
INTRINSIC |
coiled coil region
|
363 |
401 |
N/A |
INTRINSIC |
Blast:RhoGAP
|
445 |
490 |
7e-12 |
BLAST |
RhoGAP
|
502 |
676 |
5.9e-62 |
SMART |
SH3
|
731 |
786 |
2.8e-17 |
SMART |
|
Predicted Effect |
|
Meta Mutation Damage Score |
0.0584 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
98% (54/55) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a member of the SLIT-ROBO Rho GTPase activating protein family. The encoded protein stimulates GTPase activity of Rac1, and plays a role in cortical neuron development. This locus has several paralogs on human chromosome 1 resulting from segmental duplication. While this locus itself is conserved among various species, the paralogs are found only in the genus Homo, and not in the genomes of non-human great apes. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Jul 2014] PHENOTYPE: Mice homozygous for a hypomorphic gene trap allele are born at below the expected Mendelian ratio, but are otherwise viable. Layer 5 cortical pyramidal neurons exhibit an increased density of dendritic spines with a decreased spine head width and increased length of spine necks. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam21 |
C |
T |
12: 81,605,893 (GRCm39) |
C623Y |
probably damaging |
Het |
Ago3 |
T |
C |
4: 126,265,325 (GRCm39) |
K322R |
probably null |
Het |
Ankrd17 |
T |
C |
5: 90,433,723 (GRCm39) |
H682R |
possibly damaging |
Het |
Aoah |
A |
G |
13: 21,094,276 (GRCm39) |
D187G |
probably damaging |
Het |
Arhgap17 |
T |
C |
7: 122,879,231 (GRCm39) |
D840G |
unknown |
Het |
AW551984 |
C |
T |
9: 39,502,723 (GRCm39) |
V650I |
probably benign |
Het |
Bok |
T |
A |
1: 93,616,911 (GRCm39) |
Y86N |
probably damaging |
Het |
Ccdc146 |
T |
A |
5: 21,510,272 (GRCm39) |
N580I |
possibly damaging |
Het |
Ccng2 |
T |
C |
5: 93,417,199 (GRCm39) |
S72P |
possibly damaging |
Het |
Cfap74 |
T |
G |
4: 155,540,134 (GRCm39) |
I977S |
unknown |
Het |
Cobl |
T |
C |
11: 12,203,441 (GRCm39) |
N1087S |
probably benign |
Het |
Cyp21a1 |
C |
A |
17: 35,021,333 (GRCm39) |
R346L |
probably damaging |
Het |
Eif4a1 |
A |
C |
11: 69,561,490 (GRCm39) |
F52L |
probably damaging |
Het |
Eif4ebp2 |
A |
C |
10: 61,269,580 (GRCm39) |
I120S |
probably damaging |
Het |
Enpp2 |
A |
C |
15: 54,764,787 (GRCm39) |
D146E |
probably benign |
Het |
Exosc9 |
T |
C |
3: 36,607,205 (GRCm39) |
Y30H |
probably damaging |
Het |
Fam117a |
G |
A |
11: 95,268,498 (GRCm39) |
G300S |
probably benign |
Het |
Focad |
C |
A |
4: 88,328,914 (GRCm39) |
A1709E |
unknown |
Het |
Fsd1 |
G |
A |
17: 56,300,876 (GRCm39) |
R245H |
probably damaging |
Het |
Fsip2 |
T |
C |
2: 82,813,496 (GRCm39) |
F3272L |
probably benign |
Het |
Gcnt2 |
G |
A |
13: 41,013,896 (GRCm39) |
M22I |
probably benign |
Het |
Gjd4 |
T |
C |
18: 9,280,928 (GRCm39) |
E50G |
probably damaging |
Het |
Gm10375 |
G |
T |
14: 43,840,427 (GRCm39) |
T162K |
probably benign |
Het |
Gm10837 |
C |
G |
14: 122,728,142 (GRCm39) |
A6G |
unknown |
Het |
Gm4924 |
T |
C |
10: 82,215,057 (GRCm39) |
F952L |
unknown |
Het |
Heatr1 |
T |
C |
13: 12,433,045 (GRCm39) |
F1132L |
possibly damaging |
Het |
Hnrnpu |
A |
G |
1: 178,159,756 (GRCm39) |
Y442H |
unknown |
Het |
Hp1bp3 |
C |
A |
4: 137,966,929 (GRCm39) |
T408N |
probably damaging |
Het |
Htra3 |
A |
G |
5: 35,825,660 (GRCm39) |
V198A |
probably damaging |
Het |
Katnal1 |
T |
C |
5: 148,828,547 (GRCm39) |
T300A |
probably benign |
Het |
Lipo5 |
G |
T |
19: 33,445,170 (GRCm39) |
P133Q |
|
Het |
Lrp1b |
A |
T |
2: 41,660,858 (GRCm39) |
H197Q |
|
Het |
Mdc1 |
C |
A |
17: 36,156,839 (GRCm39) |
A82D |
probably damaging |
Het |
Mstn |
A |
T |
1: 53,103,408 (GRCm39) |
D248V |
probably benign |
Het |
Myo1d |
C |
T |
11: 80,565,460 (GRCm39) |
E426K |
probably damaging |
Het |
Ola1 |
G |
A |
2: 72,972,308 (GRCm39) |
T221I |
probably damaging |
Het |
Or52z1 |
A |
G |
7: 103,436,593 (GRCm39) |
I297T |
probably damaging |
Het |
Or5t7 |
T |
C |
2: 86,507,236 (GRCm39) |
Y147C |
possibly damaging |
Het |
Or7e166 |
T |
A |
9: 19,624,428 (GRCm39) |
S102T |
probably benign |
Het |
Or8c20 |
T |
A |
9: 38,261,266 (GRCm39) |
Y290N |
probably damaging |
Het |
Phldb1 |
T |
C |
9: 44,623,201 (GRCm39) |
T618A |
possibly damaging |
Het |
Pkd1 |
T |
G |
17: 24,810,093 (GRCm39) |
W3565G |
probably damaging |
Het |
Prl3a1 |
A |
T |
13: 27,460,086 (GRCm39) |
N190I |
probably benign |
Het |
Ptk2 |
G |
A |
15: 73,093,658 (GRCm39) |
P854S |
possibly damaging |
Het |
Ptpn11 |
C |
T |
5: 121,281,633 (GRCm39) |
R484Q |
probably benign |
Het |
Rapgef4 |
T |
C |
2: 72,071,820 (GRCm39) |
M900T |
probably damaging |
Het |
Slc1a2 |
A |
T |
2: 102,607,855 (GRCm39) |
D501V |
probably benign |
Het |
Smarcd3 |
G |
T |
5: 24,799,960 (GRCm39) |
A270D |
probably damaging |
Het |
Tle1 |
G |
C |
4: 72,076,612 (GRCm39) |
P139A |
probably benign |
Het |
Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
Tsbp1 |
C |
A |
17: 34,659,856 (GRCm39) |
T93N |
possibly damaging |
Het |
Zfp658 |
T |
A |
7: 43,223,413 (GRCm39) |
S563T |
probably benign |
Het |
Zswim9 |
G |
A |
7: 12,993,679 (GRCm39) |
R826C |
probably damaging |
Het |
|
Other mutations in Srgap2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00677:Srgap2
|
APN |
1 |
131,284,438 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL01738:Srgap2
|
APN |
1 |
131,224,164 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01933:Srgap2
|
APN |
1 |
131,339,593 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01964:Srgap2
|
APN |
1 |
131,217,316 (GRCm39) |
missense |
probably benign |
0.08 |
IGL02028:Srgap2
|
APN |
1 |
131,224,173 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02159:Srgap2
|
APN |
1 |
131,247,404 (GRCm39) |
splice site |
probably benign |
|
IGL02326:Srgap2
|
APN |
1 |
131,284,645 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL02396:Srgap2
|
APN |
1 |
131,220,413 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02407:Srgap2
|
APN |
1 |
131,247,340 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02444:Srgap2
|
APN |
1 |
131,252,891 (GRCm39) |
splice site |
probably null |
|
IGL02559:Srgap2
|
APN |
1 |
131,452,674 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02900:Srgap2
|
APN |
1 |
131,339,534 (GRCm39) |
splice site |
probably benign |
|
IGL03150:Srgap2
|
APN |
1 |
131,238,338 (GRCm39) |
missense |
probably damaging |
1.00 |
R0008:Srgap2
|
UTSW |
1 |
131,283,302 (GRCm39) |
missense |
probably damaging |
0.99 |
R0008:Srgap2
|
UTSW |
1 |
131,283,302 (GRCm39) |
missense |
probably damaging |
0.99 |
R0016:Srgap2
|
UTSW |
1 |
131,277,200 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0016:Srgap2
|
UTSW |
1 |
131,277,200 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0044:Srgap2
|
UTSW |
1 |
131,247,289 (GRCm39) |
missense |
possibly damaging |
0.68 |
R0441:Srgap2
|
UTSW |
1 |
131,264,175 (GRCm39) |
missense |
probably damaging |
1.00 |
R0580:Srgap2
|
UTSW |
1 |
131,277,239 (GRCm39) |
missense |
possibly damaging |
0.81 |
R0882:Srgap2
|
UTSW |
1 |
131,217,253 (GRCm39) |
missense |
probably benign |
0.00 |
R1412:Srgap2
|
UTSW |
1 |
131,228,151 (GRCm39) |
missense |
possibly damaging |
0.81 |
R1501:Srgap2
|
UTSW |
1 |
131,220,437 (GRCm39) |
missense |
probably damaging |
1.00 |
R1740:Srgap2
|
UTSW |
1 |
131,217,126 (GRCm39) |
missense |
probably benign |
0.00 |
R1764:Srgap2
|
UTSW |
1 |
131,247,275 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1772:Srgap2
|
UTSW |
1 |
131,247,376 (GRCm39) |
missense |
probably damaging |
0.99 |
R1776:Srgap2
|
UTSW |
1 |
131,339,588 (GRCm39) |
missense |
probably damaging |
1.00 |
R2393:Srgap2
|
UTSW |
1 |
131,259,872 (GRCm39) |
missense |
probably benign |
0.00 |
R3011:Srgap2
|
UTSW |
1 |
131,238,329 (GRCm39) |
missense |
probably damaging |
0.99 |
R3149:Srgap2
|
UTSW |
1 |
131,220,327 (GRCm39) |
missense |
probably benign |
0.00 |
R3150:Srgap2
|
UTSW |
1 |
131,220,327 (GRCm39) |
missense |
probably benign |
0.00 |
R3800:Srgap2
|
UTSW |
1 |
131,238,297 (GRCm39) |
missense |
probably damaging |
1.00 |
R4871:Srgap2
|
UTSW |
1 |
131,217,210 (GRCm39) |
missense |
probably benign |
0.00 |
R4884:Srgap2
|
UTSW |
1 |
131,220,314 (GRCm39) |
splice site |
probably null |
|
R5454:Srgap2
|
UTSW |
1 |
131,217,475 (GRCm39) |
missense |
probably benign |
0.08 |
R5536:Srgap2
|
UTSW |
1 |
131,228,128 (GRCm39) |
splice site |
probably null |
|
R6113:Srgap2
|
UTSW |
1 |
131,283,243 (GRCm39) |
splice site |
probably null |
|
R6174:Srgap2
|
UTSW |
1 |
131,217,354 (GRCm39) |
missense |
probably benign |
0.00 |
R6180:Srgap2
|
UTSW |
1 |
131,277,279 (GRCm39) |
missense |
probably benign |
0.00 |
R6341:Srgap2
|
UTSW |
1 |
131,219,367 (GRCm39) |
missense |
probably benign |
0.02 |
R6357:Srgap2
|
UTSW |
1 |
131,283,280 (GRCm39) |
missense |
probably damaging |
1.00 |
R6363:Srgap2
|
UTSW |
1 |
131,226,206 (GRCm39) |
missense |
probably damaging |
1.00 |
R6770:Srgap2
|
UTSW |
1 |
131,226,248 (GRCm39) |
missense |
probably benign |
0.00 |
R6934:Srgap2
|
UTSW |
1 |
131,244,969 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7007:Srgap2
|
UTSW |
1 |
131,247,275 (GRCm39) |
missense |
probably benign |
0.15 |
R7147:Srgap2
|
UTSW |
1 |
131,238,332 (GRCm39) |
missense |
|
|
R7326:Srgap2
|
UTSW |
1 |
131,219,351 (GRCm39) |
nonsense |
probably null |
|
R7467:Srgap2
|
UTSW |
1 |
131,220,405 (GRCm39) |
missense |
probably damaging |
0.97 |
R7500:Srgap2
|
UTSW |
1 |
131,364,569 (GRCm39) |
missense |
probably damaging |
1.00 |
R7579:Srgap2
|
UTSW |
1 |
131,220,371 (GRCm39) |
missense |
probably damaging |
0.99 |
R7923:Srgap2
|
UTSW |
1 |
131,228,151 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7989:Srgap2
|
UTSW |
1 |
131,226,170 (GRCm39) |
missense |
|
|
R8283:Srgap2
|
UTSW |
1 |
131,291,771 (GRCm39) |
missense |
probably damaging |
0.99 |
R8708:Srgap2
|
UTSW |
1 |
131,273,544 (GRCm39) |
nonsense |
probably null |
|
R8784:Srgap2
|
UTSW |
1 |
131,223,212 (GRCm39) |
missense |
unknown |
|
R8970:Srgap2
|
UTSW |
1 |
131,226,104 (GRCm39) |
missense |
|
|
R9001:Srgap2
|
UTSW |
1 |
131,291,798 (GRCm39) |
missense |
probably damaging |
1.00 |
R9006:Srgap2
|
UTSW |
1 |
131,283,307 (GRCm39) |
missense |
probably damaging |
1.00 |
R9382:Srgap2
|
UTSW |
1 |
131,217,346 (GRCm39) |
missense |
probably benign |
|
R9389:Srgap2
|
UTSW |
1 |
131,283,365 (GRCm39) |
missense |
probably damaging |
0.96 |
R9599:Srgap2
|
UTSW |
1 |
131,272,164 (GRCm39) |
missense |
|
|
R9616:Srgap2
|
UTSW |
1 |
131,252,828 (GRCm39) |
missense |
|
|
X0022:Srgap2
|
UTSW |
1 |
131,339,687 (GRCm39) |
missense |
probably benign |
0.01 |
Z1177:Srgap2
|
UTSW |
1 |
131,283,248 (GRCm39) |
critical splice donor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- CTTGATTCCAAAGCTCCTGTGG -3'
(R):5'- GTGATCTGCTGGCATCCTTC -3'
Sequencing Primer
(F):5'- AAAGCTCCTGTGGGCGTCAG -3'
(R):5'- TCTTGGGAAGAGAGACATTCCTCC -3'
|
Posted On |
2019-05-15 |