Incidental Mutation 'R9373:Lrrn1'
| ID |
709436 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrn1
|
| Ensembl Gene |
ENSMUSG00000034648 |
| Gene Name |
leucine rich repeat protein 1, neuronal |
| Synonyms |
2810047E21Rik, NLRR-1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.339)
|
| Stock # |
R9373 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
107506729-107547175 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 107545465 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Proline
at position 421
(Q421P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037096
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049285]
|
| AlphaFold |
Q61809 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049285
AA Change: Q421P
PolyPhen 2
Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000037096
Gene: ENSMUSG00000034648
AA Change: Q421P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
LRRNT
|
31 |
76 |
2.89e-1 |
SMART |
|
LRR
|
94 |
117 |
1.06e1 |
SMART |
|
LRR
|
118 |
141 |
1.89e-1 |
SMART |
|
LRR_TYP
|
142 |
165 |
4.3e-5 |
SMART |
|
LRR
|
166 |
189 |
1.76e-1 |
SMART |
|
LRR
|
214 |
237 |
4.09e1 |
SMART |
|
LRR
|
238 |
261 |
1.53e1 |
SMART |
|
LRR
|
262 |
285 |
2.63e0 |
SMART |
|
LRR
|
311 |
335 |
1.45e2 |
SMART |
|
LRR
|
336 |
359 |
4.21e1 |
SMART |
|
LRRCT
|
371 |
423 |
2.14e-10 |
SMART |
|
IGc2
|
438 |
506 |
6.34e-15 |
SMART |
|
FN3
|
523 |
605 |
8.71e-2 |
SMART |
|
transmembrane domain
|
631 |
653 |
N/A |
INTRINSIC |
|
low complexity region
|
690 |
701 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
96% (53/55) |
| MGI Phenotype |
PHENOTYPE: Homozygous null mutant mice exhibited decreased exploratory activity and the female mutants exhibited an increased anxiety-like response during open field testing. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2200002D01Rik |
CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
7: 28,947,048 (GRCm39) |
|
probably benign |
Het |
| 2310003L06Rik |
A |
C |
5: 88,120,668 (GRCm39) |
D475A |
probably benign |
Het |
| Aatk |
T |
C |
11: 119,906,343 (GRCm39) |
M243V |
possibly damaging |
Het |
| Acox1 |
A |
T |
11: 116,065,173 (GRCm39) |
N627K |
possibly damaging |
Het |
| Adal |
A |
G |
2: 120,980,703 (GRCm39) |
Y142C |
probably benign |
Het |
| Agfg2 |
A |
G |
5: 137,662,476 (GRCm39) |
|
probably null |
Het |
| Ajap1 |
C |
T |
4: 153,516,670 (GRCm39) |
A224T |
probably benign |
Het |
| Alg1 |
T |
C |
16: 5,056,990 (GRCm39) |
F234L |
probably benign |
Het |
| Arhgap27 |
G |
T |
11: 103,251,287 (GRCm39) |
A147E |
possibly damaging |
Het |
| C9orf72 |
A |
G |
4: 35,196,985 (GRCm39) |
F360S |
|
Het |
| Cachd1 |
T |
C |
4: 100,832,067 (GRCm39) |
V743A |
possibly damaging |
Het |
| Cc2d2b |
G |
A |
19: 40,784,167 (GRCm39) |
V655I |
unknown |
Het |
| Cd72 |
T |
C |
4: 43,450,141 (GRCm39) |
S256G |
possibly damaging |
Het |
| Celf2 |
G |
T |
2: 6,551,915 (GRCm39) |
N521K |
probably benign |
Het |
| Clca4a |
T |
A |
3: 144,672,133 (GRCm39) |
N270Y |
possibly damaging |
Het |
| Clvs2 |
A |
T |
10: 33,404,382 (GRCm39) |
V278E |
probably benign |
Het |
| Cwf19l2 |
T |
C |
9: 3,454,718 (GRCm39) |
F677S |
probably damaging |
Het |
| Dnaaf4 |
A |
G |
9: 72,871,462 (GRCm39) |
T241A |
probably damaging |
Het |
| Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
| Epdr1 |
T |
C |
13: 19,778,707 (GRCm39) |
N130D |
possibly damaging |
Het |
| Fam184a |
G |
A |
10: 53,566,115 (GRCm39) |
R491W |
probably benign |
Het |
| Foxp2 |
A |
G |
6: 15,377,969 (GRCm39) |
Q160R |
unknown |
Het |
| Fstl5 |
T |
A |
3: 76,555,669 (GRCm39) |
Y515* |
probably null |
Het |
| Garin5b |
T |
C |
7: 4,760,712 (GRCm39) |
M667V |
|
Het |
| Helz2 |
G |
T |
2: 180,882,741 (GRCm39) |
N17K |
probably benign |
Het |
| Irag1 |
A |
G |
7: 110,545,038 (GRCm39) |
|
probably null |
Het |
| Jmjd1c |
C |
T |
10: 66,932,495 (GRCm39) |
|
probably benign |
Het |
| Jup |
C |
T |
11: 100,270,391 (GRCm39) |
C372Y |
probably damaging |
Het |
| Mapk1 |
A |
G |
16: 16,836,154 (GRCm39) |
I101V |
probably benign |
Het |
| Me2 |
T |
C |
18: 73,918,800 (GRCm39) |
E427G |
probably damaging |
Het |
| Mrc1 |
G |
A |
2: 14,274,999 (GRCm39) |
M433I |
probably damaging |
Het |
| Nelfb |
G |
A |
2: 25,095,218 (GRCm39) |
R324W |
probably damaging |
Het |
| Nlrp4b |
T |
A |
7: 10,449,126 (GRCm39) |
I443K |
probably benign |
Het |
| Nup210l |
C |
T |
3: 90,107,173 (GRCm39) |
P1570L |
probably benign |
Het |
| Or5b118 |
A |
G |
19: 13,449,216 (GRCm39) |
E294G |
probably damaging |
Het |
| Or8b50 |
G |
A |
9: 38,518,142 (GRCm39) |
C127Y |
possibly damaging |
Het |
| Or8b9 |
T |
A |
9: 37,766,750 (GRCm39) |
V212D |
probably damaging |
Het |
| Or9g3 |
A |
T |
2: 85,590,275 (GRCm39) |
Y148* |
probably null |
Het |
| Parvb |
C |
T |
15: 84,188,100 (GRCm39) |
T281I |
probably damaging |
Het |
| Prune2 |
A |
G |
19: 17,099,502 (GRCm39) |
T1669A |
probably benign |
Het |
| Runx3 |
A |
G |
4: 134,848,456 (GRCm39) |
T14A |
probably benign |
Het |
| Scn9a |
A |
G |
2: 66,314,261 (GRCm39) |
V1819A |
probably benign |
Het |
| Senp1 |
T |
C |
15: 97,964,435 (GRCm39) |
T260A |
probably benign |
Het |
| Serpinb10 |
A |
G |
1: 107,474,749 (GRCm39) |
R304G |
possibly damaging |
Het |
| Spem1 |
C |
T |
11: 69,712,640 (GRCm39) |
C65Y |
probably benign |
Het |
| Tdrd6 |
A |
G |
17: 43,939,053 (GRCm39) |
V665A |
possibly damaging |
Het |
| Tenm2 |
C |
T |
11: 35,930,713 (GRCm39) |
A1772T |
probably damaging |
Het |
| Tenm3 |
C |
T |
8: 48,752,690 (GRCm39) |
V891I |
probably damaging |
Het |
| Trank1 |
A |
G |
9: 111,194,259 (GRCm39) |
D761G |
probably benign |
Het |
| Tut7 |
T |
C |
13: 59,944,681 (GRCm39) |
S1053G |
probably damaging |
Het |
| Ubap2l |
A |
T |
3: 89,915,587 (GRCm39) |
Y985N |
unknown |
Het |
| Vwc2l |
A |
T |
1: 70,768,218 (GRCm39) |
H94L |
probably damaging |
Het |
| Wdr27 |
G |
A |
17: 15,154,795 (GRCm39) |
H41Y |
probably benign |
Het |
| Zfp7 |
AGTGCGGGAAAGGTTTCCACCTG |
AG |
15: 76,774,798 (GRCm39) |
|
probably benign |
Het |
| Zfp7 |
TGCGGGAAAGGTTTCCACCTGAGCG |
TGCG |
15: 76,774,800 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Lrrn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00834:Lrrn1
|
APN |
6 |
107,545,269 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL00949:Lrrn1
|
APN |
6 |
107,546,261 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL01594:Lrrn1
|
APN |
6 |
107,544,454 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02814:Lrrn1
|
APN |
6 |
107,544,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02824:Lrrn1
|
APN |
6 |
107,545,495 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
IGL02931:Lrrn1
|
APN |
6 |
107,544,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0399:Lrrn1
|
UTSW |
6 |
107,546,081 (GRCm39) |
missense |
probably benign |
|
|
R1109:Lrrn1
|
UTSW |
6 |
107,544,225 (GRCm39) |
missense |
probably benign |
|
|
R1620:Lrrn1
|
UTSW |
6 |
107,545,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1826:Lrrn1
|
UTSW |
6 |
107,544,529 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1893:Lrrn1
|
UTSW |
6 |
107,545,083 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2327:Lrrn1
|
UTSW |
6 |
107,545,794 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3684:Lrrn1
|
UTSW |
6 |
107,544,910 (GRCm39) |
missense |
probably benign |
0.13 |
|
R3757:Lrrn1
|
UTSW |
6 |
107,546,169 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4538:Lrrn1
|
UTSW |
6 |
107,545,598 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4922:Lrrn1
|
UTSW |
6 |
107,545,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4946:Lrrn1
|
UTSW |
6 |
107,545,851 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4970:Lrrn1
|
UTSW |
6 |
107,546,305 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4977:Lrrn1
|
UTSW |
6 |
107,545,668 (GRCm39) |
missense |
probably benign |
|
|
R5121:Lrrn1
|
UTSW |
6 |
107,546,168 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5186:Lrrn1
|
UTSW |
6 |
107,546,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5625:Lrrn1
|
UTSW |
6 |
107,544,315 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5736:Lrrn1
|
UTSW |
6 |
107,544,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5873:Lrrn1
|
UTSW |
6 |
107,545,936 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5949:Lrrn1
|
UTSW |
6 |
107,544,465 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6046:Lrrn1
|
UTSW |
6 |
107,545,488 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6370:Lrrn1
|
UTSW |
6 |
107,546,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7138:Lrrn1
|
UTSW |
6 |
107,545,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7169:Lrrn1
|
UTSW |
6 |
107,544,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7413:Lrrn1
|
UTSW |
6 |
107,546,083 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7449:Lrrn1
|
UTSW |
6 |
107,545,482 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7969:Lrrn1
|
UTSW |
6 |
107,544,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8077:Lrrn1
|
UTSW |
6 |
107,545,783 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8288:Lrrn1
|
UTSW |
6 |
107,543,955 (GRCm39) |
start gained |
probably benign |
|
|
R8420:Lrrn1
|
UTSW |
6 |
107,546,294 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8725:Lrrn1
|
UTSW |
6 |
107,544,303 (GRCm39) |
nonsense |
probably null |
|
|
R9007:Lrrn1
|
UTSW |
6 |
107,544,820 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9133:Lrrn1
|
UTSW |
6 |
107,544,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9367:Lrrn1
|
UTSW |
6 |
107,545,093 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9475:Lrrn1
|
UTSW |
6 |
107,545,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9513:Lrrn1
|
UTSW |
6 |
107,545,505 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9516:Lrrn1
|
UTSW |
6 |
107,545,505 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9549:Lrrn1
|
UTSW |
6 |
107,545,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGCGTGAGATCAGCATCC -3'
(R):5'- AGGTGTACCTTCCTGAGTCTTC -3'
Sequencing Primer
(F):5'- GTGAGATCAGCATCCACAGC -3'
(R):5'- AGGTGCCCTCACTACTCAG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation