Mutagenetix > Incidental Mutation

Incidental Mutation 'R9516:Lrrn1'

718561

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: 0.439) question?

Stock #

R9516 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

107529768-107570214 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 107568544 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 434 (H434Q)

Ref Sequence

ENSEMBL: ENSMUSP00000037096 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049285]

AlphaFold

Q61809

Predicted Effect

probably benign
Transcript: ENSMUST00000049285
AA Change: H434Q

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000037096
Gene: ENSMUSG00000034648
AA Change: H434Q

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: 99.1%

Validation Efficiency

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3300002I08Rik	T	C	2: 150,311,202 (GRCm38)	N88D	possibly damaging	Het
4933430I17Rik	A	G	4: 62,542,679 (GRCm38)	I264V	probably benign	Het
Abcc8	A	G	7: 46,138,005 (GRCm38)	F591L	probably benign	Het
Abr	G	T	11: 76,419,832 (GRCm38)	T810K	probably damaging	Het
Abracl	T	C	10: 18,018,883 (GRCm38)	E6G	unknown	Het
Adamts3	A	T	5: 89,686,891 (GRCm38)	Y871N	probably damaging	Het
Akap13	T	C	7: 75,704,527 (GRCm38)	Y80H	probably benign	Het
Alas1	A	G	9: 106,238,641 (GRCm38)		probably null	Het
Anapc1	A	C	2: 128,675,713 (GRCm38)	L337R	possibly damaging	Het
Apaf1	T	C	10: 91,079,954 (GRCm38)	Y24C	probably damaging	Het
Arhgef16	A	G	4: 154,280,975 (GRCm38)	V561A	possibly damaging	Het
Atp10b	T	A	11: 43,230,397 (GRCm38)	H962Q	probably benign	Het
BC067074	A	T	13: 113,319,115 (GRCm38)	N565I		Het
Brsk2	A	G	7: 141,993,115 (GRCm38)	T432A	probably benign	Het
C1rl	T	A	6: 124,508,843 (GRCm38)	V391E	probably damaging	Het
Caps2	A	T	10: 112,200,732 (GRCm38)	H399L	probably benign	Het
Ccdc43	C	A	11: 102,686,381 (GRCm38)	K199N	probably benign	Het
Ccdc7a	G	T	8: 128,829,293 (GRCm38)	P1198T	unknown	Het
Cct7	A	G	6: 85,467,643 (GRCm38)	Y423C	possibly damaging	Het
Cep112	A	G	11: 108,757,688 (GRCm38)	T783A	probably damaging	Het
Cep250	A	G	2: 155,991,539 (GRCm38)	T1795A	probably benign	Het
Clasp1	T	G	1: 118,503,830 (GRCm38)	S397A	possibly damaging	Het
Clock	A	C	5: 76,229,380 (GRCm38)	F691V	possibly damaging	Het
Cmklr1	A	G	5: 113,614,280 (GRCm38)	V220A	probably benign	Het
Coro2b	A	T	9: 62,428,009 (GRCm38)	Y298*	probably null	Het
Cyp2t4	G	A	7: 27,155,292 (GRCm38)	V66M	possibly damaging	Het
Dlk2	G	A	17: 46,302,506 (GRCm38)	G186D	probably damaging	Het
Dok1	T	C	6: 83,032,991 (GRCm38)	K46E	probably damaging	Het
Dok3	A	G	13: 55,524,373 (GRCm38)	I164T	probably benign	Het
Ercc5	T	A	1: 44,167,881 (GRCm38)	D651E	probably damaging	Het
Erp27	T	C	6: 136,908,068 (GRCm38)	K244R	probably benign	Het
Fam160a1	G	A	3: 85,673,252 (GRCm38)	Q549*	probably null	Het
Flvcr2	T	C	12: 85,747,180 (GRCm38)	V110A	possibly damaging	Het
Gm3376	T	A	Y: 3,774,888 (GRCm38)	F28L	probably damaging	Het
Gsta3	T	C	1: 21,249,836 (GRCm38)	L22P	probably damaging	Het
Hdac5	T	C	11: 102,202,696 (GRCm38)	T493A	probably benign	Het
Hivep2	T	A	10: 14,129,779 (GRCm38)	I707N	probably benign	Het
Hmox1	A	G	8: 75,096,916 (GRCm38)	N71D	probably benign	Het
Hnrnpr	G	T	4: 136,336,304 (GRCm38)	V342F	probably damaging	Het
Ifi44	T	C	3: 151,732,471 (GRCm38)	D393G	probably damaging	Het
Ighv1-82	A	T	12: 115,952,946 (GRCm38)	F9I	probably damaging	Het
Kalrn	A	G	16: 34,034,494 (GRCm38)	S1999P	probably damaging	Het
Kcnq2	A	G	2: 181,134,960 (GRCm38)	S45P	probably benign	Het
Krt77	A	T	15: 101,861,344 (GRCm38)	Y364N	probably damaging	Het
Kti12	T	C	4: 108,848,279 (GRCm38)	V130A	probably benign	Het
Lama2	T	C	10: 27,224,019 (GRCm38)	E830G	probably benign	Het
Med13	A	T	11: 86,288,975 (GRCm38)	N1382K	probably benign	Het
Mrpl42	A	G	10: 95,496,822 (GRCm38)		probably null	Het
Mtor	A	G	4: 148,484,646 (GRCm38)	D1140G	probably benign	Het
Mtrr	A	G	13: 68,572,636 (GRCm38)	I280T	probably benign	Het
Myh4	T	A	11: 67,250,303 (GRCm38)	N730K	probably damaging	Het
Myh4	A	T	11: 67,248,464 (GRCm38)	I536F	probably damaging	Het
Nat10	A	C	2: 103,733,019 (GRCm38)	L545R	probably damaging	Het
Nav3	T	A	10: 109,684,154 (GRCm38)	D2356V	probably damaging	Het
Nbea	A	T	3: 56,029,945 (GRCm38)	S748R	probably damaging	Het
Nlrp1a	T	C	11: 71,107,662 (GRCm38)	T904A	probably benign	Het
Nod2	A	T	8: 88,670,422 (GRCm38)	N820I	probably damaging	Het
Nptx1	A	G	11: 119,542,555 (GRCm38)	V406A	probably damaging	Het
Nrd1	T	A	4: 109,044,666 (GRCm38)	I644K	probably benign	Het
Olfr1508	T	C	14: 52,463,416 (GRCm38)	I198V	probably benign	Het
Ostf1	T	A	19: 18,596,371 (GRCm38)	I38F	probably benign	Het
Pde4b	G	T	4: 102,604,986 (GRCm38)	D605Y	probably damaging	Het
Pde4d	A	G	13: 109,260,662 (GRCm38)	T3A		Het
Pknox1	A	G	17: 31,603,209 (GRCm38)	I317V	probably damaging	Het
Plekhh2	A	G	17: 84,610,812 (GRCm38)	N1283S	probably benign	Het
Ppp3cb	G	A	14: 20,523,800 (GRCm38)	A289V	probably damaging	Het
Prag1	A	G	8: 36,140,054 (GRCm38)	D983G	probably damaging	Het
Psmd13	C	T	7: 140,898,542 (GRCm38)	T62M		Het
Rab42	C	T	4: 132,302,579 (GRCm38)	V111I		Het
Rabl2	T	A	15: 89,590,428 (GRCm38)		probably null	Het
Rapgef6	T	A	11: 54,691,343 (GRCm38)	S1365R	probably damaging	Het
Rassf4	G	T	6: 116,640,304 (GRCm38)	H247N	possibly damaging	Het
Rbfox1	A	G	16: 7,409,709 (GRCm38)	T363A	probably benign	Het
Sbf1	T	C	15: 89,300,539 (GRCm38)	D1091G	probably damaging	Het
Scaper	A	G	9: 55,685,991 (GRCm38)	V454A	probably benign	Het
Selenbp2	G	A	3: 94,700,045 (GRCm38)	D258N	probably benign	Het
Sirpa	A	T	2: 129,615,635 (GRCm38)	I210F	probably damaging	Het
Skint4	T	C	4: 112,158,039 (GRCm38)	S434P	probably benign	Het
Slc26a5	G	A	5: 21,811,339 (GRCm38)	Q682*	probably null	Het
Slco4a1	C	T	2: 180,474,150 (GRCm38)	S693F	possibly damaging	Het
Smpd3	A	G	8: 106,265,487 (GRCm38)	F145L	probably benign	Het
Son	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	16: 91,656,691 (GRCm38)		probably benign	Het
Spata31d1c	A	T	13: 65,036,226 (GRCm38)	L527F	probably damaging	Het
Srd5a3	A	G	5: 76,149,947 (GRCm38)	N199D	probably benign	Het
Stard9	C	G	2: 120,704,083 (GRCm38)	P3607R	probably damaging	Het
Sytl1	A	G	4: 133,258,980 (GRCm38)		probably null	Het
Tas2r126	A	G	6: 42,435,373 (GRCm38)	H280R	probably null	Het
Tcf4	C	T	18: 69,519,873 (GRCm38)		probably benign	Het
Tlcd2	A	G	11: 75,468,286 (GRCm38)	T28A	probably damaging	Het
Tm7sf3	C	T	6: 146,623,681 (GRCm38)	D89N	possibly damaging	Het
Tmem119	A	G	5: 113,795,206 (GRCm38)	L178P	probably damaging	Het
Tmem206	G	A	1: 191,349,807 (GRCm38)	R337Q	probably damaging	Het
Tmprss7	T	C	16: 45,664,201 (GRCm38)	D532G	probably benign	Het
Tnfaip8l3	A	G	9: 54,027,493 (GRCm38)	I66T	probably benign	Het
Tor1b	A	G	2: 30,953,173 (GRCm38)	Y50C	probably damaging	Het
Tpp2	T	A	1: 43,978,488 (GRCm38)	S751T	probably benign	Het
Tpra1	T	C	6: 88,910,239 (GRCm38)	V193A	probably benign	Het
Trip12	A	T	1: 84,757,494 (GRCm38)	V932E	probably damaging	Het
Ttn	T	A	2: 76,946,760 (GRCm38)	T1479S	unknown	Het
Unc13c	A	T	9: 73,484,938 (GRCm38)	V2044D	probably damaging	Het
Usp25	T	G	16: 77,055,188 (GRCm38)	V197G	probably damaging	Het
Vmn2r34	A	G	7: 7,672,367 (GRCm38)	V674A	probably benign	Het
Zfp7	T	C	15: 76,891,284 (GRCm38)	S509P	probably damaging	Het
Zfp821	A	G	8: 109,721,224 (GRCm38)	T66A	probably damaging	Het
Zfp97	T	A	17: 17,145,668 (GRCm38)	N476K	possibly damaging	Het

Other mutations in Lrrn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00834:Lrrn1	APN	6	107,568,308 (GRCm38)	missense	probably benign	0.06
IGL00949:Lrrn1	APN	6	107,569,300 (GRCm38)	missense	probably benign	0.15
IGL01594:Lrrn1	APN	6	107,567,493 (GRCm38)	missense	probably damaging	0.99
IGL02814:Lrrn1	APN	6	107,567,352 (GRCm38)	missense	probably damaging	1.00
IGL02824:Lrrn1	APN	6	107,568,534 (GRCm38)	missense	possibly damaging	0.57
IGL02931:Lrrn1	APN	6	107,567,748 (GRCm38)	missense	probably damaging	1.00
R0399:Lrrn1	UTSW	6	107,569,120 (GRCm38)	missense	probably benign
R1109:Lrrn1	UTSW	6	107,567,264 (GRCm38)	missense	probably benign
R1620:Lrrn1	UTSW	6	107,568,366 (GRCm38)	missense	probably damaging	1.00
R1826:Lrrn1	UTSW	6	107,567,568 (GRCm38)	missense	probably benign	0.05
R1893:Lrrn1	UTSW	6	107,568,122 (GRCm38)	missense	possibly damaging	0.82
R2327:Lrrn1	UTSW	6	107,568,833 (GRCm38)	missense	probably benign	0.05
R3684:Lrrn1	UTSW	6	107,567,949 (GRCm38)	missense	probably benign	0.13
R3757:Lrrn1	UTSW	6	107,569,208 (GRCm38)	missense	possibly damaging	0.81
R4538:Lrrn1	UTSW	6	107,568,637 (GRCm38)	missense	probably benign	0.21
R4922:Lrrn1	UTSW	6	107,568,350 (GRCm38)	missense	probably damaging	1.00
R4946:Lrrn1	UTSW	6	107,568,890 (GRCm38)	missense	probably benign	0.16
R4970:Lrrn1	UTSW	6	107,569,344 (GRCm38)	missense	probably benign	0.06
R4977:Lrrn1	UTSW	6	107,568,707 (GRCm38)	missense	probably benign
R5121:Lrrn1	UTSW	6	107,569,207 (GRCm38)	missense	possibly damaging	0.89
R5186:Lrrn1	UTSW	6	107,569,224 (GRCm38)	missense	probably damaging	1.00
R5625:Lrrn1	UTSW	6	107,567,354 (GRCm38)	missense	probably damaging	0.99
R5736:Lrrn1	UTSW	6	107,567,384 (GRCm38)	missense	probably damaging	1.00
R5873:Lrrn1	UTSW	6	107,568,975 (GRCm38)	missense	probably damaging	0.98
R5949:Lrrn1	UTSW	6	107,567,504 (GRCm38)	missense	probably benign	0.00
R6046:Lrrn1	UTSW	6	107,568,527 (GRCm38)	missense	probably benign	0.00
R6370:Lrrn1	UTSW	6	107,569,224 (GRCm38)	missense	probably damaging	1.00
R7138:Lrrn1	UTSW	6	107,568,375 (GRCm38)	missense	probably damaging	1.00
R7169:Lrrn1	UTSW	6	107,567,604 (GRCm38)	missense	probably damaging	1.00
R7413:Lrrn1	UTSW	6	107,569,122 (GRCm38)	missense	probably benign	0.00
R7449:Lrrn1	UTSW	6	107,568,521 (GRCm38)	missense	possibly damaging	0.91
R7969:Lrrn1	UTSW	6	107,567,850 (GRCm38)	missense	probably damaging	1.00
R8077:Lrrn1	UTSW	6	107,568,822 (GRCm38)	missense	probably damaging	0.99
R8288:Lrrn1	UTSW	6	107,566,994 (GRCm38)	start gained	probably benign
R8420:Lrrn1	UTSW	6	107,569,333 (GRCm38)	missense	probably benign	0.00
R8725:Lrrn1	UTSW	6	107,567,342 (GRCm38)	nonsense	probably null
R9007:Lrrn1	UTSW	6	107,567,859 (GRCm38)	missense	probably damaging	0.99
R9133:Lrrn1	UTSW	6	107,567,607 (GRCm38)	missense	probably damaging	1.00
R9367:Lrrn1	UTSW	6	107,568,132 (GRCm38)	missense	probably damaging	0.98
R9373:Lrrn1	UTSW	6	107,568,504 (GRCm38)	missense	possibly damaging	0.82
R9475:Lrrn1	UTSW	6	107,568,300 (GRCm38)	missense	probably damaging	1.00
R9513:Lrrn1	UTSW	6	107,568,544 (GRCm38)	missense	probably benign	0.04
R9549:Lrrn1	UTSW	6	107,569,017 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGGTGTGACTGTGTCATCC -3'
(R):5'- TCCTTGGACATTCTGGGCAAC -3'

Sequencing Primer
(F):5'- GACTGTGTCATCCACTGGATCAAC -3'
(R):5'- AACGCAGGTGTACCTTCCTGAG -3'

Posted On

2022-07-18