Incidental Mutation 'R1776:Srgap2'
ID |
196986 |
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 |
039807-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1776 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
131212989-131455090 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 131339588 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 125
(I125F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139405
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097588]
[ENSMUST00000185445]
[ENSMUST00000186543]
|
AlphaFold |
Q91Z67 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000097588
AA Change: I125F
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000095195 Gene: ENSMUSG00000026425 AA Change: I125F
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 damaging
Transcript: ENSMUST00000185445
AA Change: I94F
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000140787 Gene: ENSMUSG00000026425 AA Change: I94F
Domain | Start | End | E-Value | Type |
FCH
|
4 |
89 |
6.3e-14 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000186543
AA Change: I125F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000139405 Gene: ENSMUSG00000026425 AA Change: I125F
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 |
noncoding transcript
Transcript: ENSMUST00000189893
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191427
|
Meta Mutation Damage Score |
0.2326 |
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 94.9%
- 20x: 91.3%
|
Validation Efficiency |
98% (86/88) |
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: 85 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930533K18Rik |
T |
C |
10: 70,711,058 (GRCm39) |
|
noncoding transcript |
Het |
9430097D07Rik |
T |
C |
2: 32,464,767 (GRCm39) |
|
probably benign |
Het |
A2m |
C |
G |
6: 121,618,383 (GRCm39) |
F225L |
probably damaging |
Het |
Adamts19 |
T |
A |
18: 59,087,692 (GRCm39) |
I574N |
probably damaging |
Het |
Ankfn1 |
T |
C |
11: 89,417,300 (GRCm39) |
D104G |
possibly damaging |
Het |
Ankhd1 |
T |
A |
18: 36,780,361 (GRCm39) |
N1804K |
probably benign |
Het |
Ankle1 |
G |
T |
8: 71,861,918 (GRCm39) |
V474F |
probably damaging |
Het |
Arfgap3 |
A |
G |
15: 83,227,340 (GRCm39) |
V24A |
probably benign |
Het |
Asph |
A |
T |
4: 9,598,773 (GRCm39) |
S149R |
probably damaging |
Het |
Cass4 |
A |
T |
2: 172,269,615 (GRCm39) |
I568L |
probably benign |
Het |
Cd84 |
A |
G |
1: 171,700,317 (GRCm39) |
T145A |
possibly damaging |
Het |
Cdx1 |
G |
A |
18: 61,169,086 (GRCm39) |
A36V |
probably benign |
Het |
Cep57 |
A |
T |
9: 13,730,170 (GRCm39) |
S123T |
probably damaging |
Het |
Clca3a2 |
T |
A |
3: 144,519,681 (GRCm39) |
Q231L |
probably damaging |
Het |
Clcnkb |
T |
C |
4: 141,142,500 (GRCm39) |
|
probably benign |
Het |
Crabp2 |
C |
A |
3: 87,860,301 (GRCm39) |
T125K |
probably benign |
Het |
Dennd3 |
A |
G |
15: 73,426,950 (GRCm39) |
T776A |
possibly damaging |
Het |
Dnajb6 |
T |
C |
5: 29,990,091 (GRCm39) |
|
probably benign |
Het |
Dsp |
T |
A |
13: 38,380,593 (GRCm39) |
I1847N |
probably damaging |
Het |
Dync1h1 |
T |
C |
12: 110,599,362 (GRCm39) |
|
probably benign |
Het |
Ecpas |
A |
G |
4: 58,879,100 (GRCm39) |
I63T |
probably damaging |
Het |
Fbn1 |
A |
C |
2: 125,163,654 (GRCm39) |
F2067L |
possibly damaging |
Het |
Fbxo16 |
T |
A |
14: 65,532,835 (GRCm39) |
|
probably null |
Het |
Gm3604 |
C |
A |
13: 62,517,888 (GRCm39) |
G157* |
probably null |
Het |
Gm5250 |
A |
G |
1: 13,132,564 (GRCm39) |
|
noncoding transcript |
Het |
Gpam |
A |
G |
19: 55,067,007 (GRCm39) |
S503P |
possibly damaging |
Het |
Herc4 |
T |
A |
10: 63,099,950 (GRCm39) |
C124* |
probably null |
Het |
Ift27 |
T |
C |
15: 78,050,181 (GRCm39) |
D76G |
probably null |
Het |
Igdcc3 |
C |
T |
9: 65,090,034 (GRCm39) |
Q550* |
probably null |
Het |
Igsf6 |
T |
A |
7: 120,667,522 (GRCm39) |
I165F |
probably damaging |
Het |
Il31ra |
T |
C |
13: 112,677,773 (GRCm39) |
I173M |
probably damaging |
Het |
Kbtbd6 |
G |
A |
14: 79,690,045 (GRCm39) |
D247N |
probably benign |
Het |
Kcnq2 |
T |
A |
2: 180,742,350 (GRCm39) |
T394S |
probably benign |
Het |
Mia2 |
A |
G |
12: 59,196,361 (GRCm39) |
|
probably benign |
Het |
Mvp |
T |
C |
7: 126,591,933 (GRCm39) |
Q419R |
probably benign |
Het |
Mylk |
A |
G |
16: 34,773,152 (GRCm39) |
D1250G |
probably benign |
Het |
Necab1 |
A |
G |
4: 15,111,267 (GRCm39) |
Y54H |
probably damaging |
Het |
Nlk |
T |
A |
11: 78,477,853 (GRCm39) |
M297L |
probably benign |
Het |
Nsl1 |
G |
T |
1: 190,795,385 (GRCm39) |
M50I |
probably benign |
Het |
Numa1 |
A |
G |
7: 101,660,257 (GRCm39) |
T441A |
probably damaging |
Het |
Ofd1 |
A |
G |
X: 165,189,002 (GRCm39) |
Y755H |
probably benign |
Het |
Or10d1c |
G |
A |
9: 38,894,190 (GRCm39) |
S50F |
probably damaging |
Het |
Or6c69b |
C |
T |
10: 129,627,000 (GRCm39) |
V153I |
probably benign |
Het |
Or8b12i |
G |
A |
9: 20,082,105 (GRCm39) |
T254I |
probably benign |
Het |
Ovgp1 |
A |
T |
3: 105,885,114 (GRCm39) |
H151L |
possibly damaging |
Het |
Pigz |
G |
A |
16: 31,763,397 (GRCm39) |
E152K |
probably damaging |
Het |
Plxna1 |
A |
T |
6: 89,312,446 (GRCm39) |
D779E |
probably benign |
Het |
Ppil4 |
A |
T |
10: 7,686,201 (GRCm39) |
E353V |
probably benign |
Het |
Ptprq |
C |
T |
10: 107,520,950 (GRCm39) |
G741S |
probably damaging |
Het |
Rplp0 |
T |
C |
5: 115,700,524 (GRCm39) |
Y231H |
probably benign |
Het |
Rps24 |
A |
G |
14: 24,541,830 (GRCm39) |
T6A |
probably damaging |
Het |
Rundc3b |
T |
C |
5: 8,629,050 (GRCm39) |
E117G |
probably damaging |
Het |
Ryr2 |
A |
C |
13: 11,760,062 (GRCm39) |
|
probably null |
Het |
Ryr3 |
A |
T |
2: 112,787,598 (GRCm39) |
M198K |
probably damaging |
Het |
Sdhd |
T |
C |
9: 50,508,500 (GRCm39) |
K122R |
probably benign |
Het |
Senp2 |
T |
C |
16: 21,861,810 (GRCm39) |
|
probably benign |
Het |
Setd3 |
C |
A |
12: 108,131,420 (GRCm39) |
G2V |
probably damaging |
Het |
Sfxn5 |
A |
G |
6: 85,244,927 (GRCm39) |
|
probably benign |
Het |
She |
T |
A |
3: 89,739,345 (GRCm39) |
S179T |
possibly damaging |
Het |
Slc24a2 |
G |
A |
4: 87,094,526 (GRCm39) |
T331I |
probably benign |
Het |
Slc45a3 |
T |
C |
1: 131,904,694 (GRCm39) |
W6R |
possibly damaging |
Het |
Slc9a4 |
T |
C |
1: 40,668,447 (GRCm39) |
S697P |
probably benign |
Het |
Soat1 |
C |
T |
1: 156,269,991 (GRCm39) |
V143I |
probably benign |
Het |
Sp8 |
T |
A |
12: 118,813,302 (GRCm39) |
F386I |
probably damaging |
Het |
Spata31d1b |
A |
G |
13: 59,864,381 (GRCm39) |
T510A |
probably benign |
Het |
Stab2 |
T |
A |
10: 86,793,680 (GRCm39) |
I472F |
possibly damaging |
Het |
Taar7f |
C |
T |
10: 23,925,546 (GRCm39) |
R47C |
probably benign |
Het |
Tbc1d19 |
T |
A |
5: 54,046,653 (GRCm39) |
|
probably null |
Het |
Tbc1d21 |
T |
A |
9: 58,274,011 (GRCm39) |
|
probably benign |
Het |
Tcaf1 |
A |
G |
6: 42,655,389 (GRCm39) |
I529T |
possibly damaging |
Het |
Tgfbr2 |
A |
T |
9: 116,004,035 (GRCm39) |
I24N |
possibly damaging |
Het |
Tgm1 |
T |
C |
14: 55,946,854 (GRCm39) |
T385A |
probably damaging |
Het |
Tgm2 |
T |
C |
2: 157,973,379 (GRCm39) |
N244S |
probably benign |
Het |
Thoc5 |
T |
C |
11: 4,864,517 (GRCm39) |
|
probably benign |
Het |
Tmc2 |
A |
T |
2: 130,076,789 (GRCm39) |
I372F |
probably damaging |
Het |
Tnrc6a |
A |
G |
7: 122,770,520 (GRCm39) |
D222G |
probably damaging |
Het |
Trhde |
T |
G |
10: 114,636,508 (GRCm39) |
N233T |
probably benign |
Het |
Tstd3 |
T |
C |
4: 21,759,475 (GRCm39) |
Y99C |
probably damaging |
Het |
Ttc22 |
A |
T |
4: 106,496,237 (GRCm39) |
D429V |
possibly damaging |
Het |
Ugcg |
A |
G |
4: 59,207,775 (GRCm39) |
N38S |
probably benign |
Het |
Ush2a |
A |
G |
1: 188,460,400 (GRCm39) |
I2554V |
possibly damaging |
Het |
Usp16 |
A |
G |
16: 87,276,204 (GRCm39) |
D513G |
probably damaging |
Het |
Vip |
T |
C |
10: 5,594,992 (GRCm39) |
|
probably null |
Het |
Vmn1r4 |
A |
G |
6: 56,934,023 (GRCm39) |
I176V |
probably benign |
Het |
Zfp804b |
T |
C |
5: 6,819,806 (GRCm39) |
T1050A |
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 |
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 |
R7077:Srgap2
|
UTSW |
1 |
131,272,187 (GRCm39) |
missense |
|
|
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'- GCCCAAGAGGTTTCAAAGCACACAG -3'
(R):5'- AGCTCTGCCTGCTTGCTAACAC -3'
Sequencing Primer
(F):5'- CAGTGGAAAACCTGTTATGTGAGTC -3'
(R):5'- GCTTGCTAACACTTTTTTTTTCTTTG -3'
|
Posted On |
2014-05-23 |