Mutagenetix > Incidental Mutation

Incidental Mutation 'R6563:Lrrc9'

522569

Institutional Source

Beutler Lab

Gene Symbol

Lrrc9

Ensembl Gene

ENSMUSG00000021090

Gene Name

leucine rich repeat containing 9

Synonyms

4921529O18Rik, 4930432K16Rik

MMRRC Submission

044687-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.154) question?

Stock #

R6563 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72481391-72561269 bp(+) (GRCm39)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

A to G at 72533169 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124394 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000161284] [ENSMUST00000162159] [ENSMUST00000221360]

AlphaFold

Q8CDN9

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161195

Predicted Effect

probably null
Transcript: ENSMUST00000161284

SMART Domains

Protein: ENSMUSP00000124602
Gene: ENSMUSG00000021090

Domain	Start	End	E-Value	Type
Pfam:LRR_4	77	118	2.8e-11	PFAM
LRR	119	140	8.49e1	SMART
LRR	141	164	2.27e1	SMART
LRR	165	187	2.09e2	SMART
LRRcap	210	228	6.12e1	SMART
low complexity region	373	384	N/A	INTRINSIC
low complexity region	424	436	N/A	INTRINSIC
LRR	706	727	1.41e2	SMART
LRR	728	749	6.78e1	SMART
LRR	750	773	7.17e1	SMART
LRRcap	793	811	2.26e2	SMART
LRR	943	966	2.67e-1	SMART
LRR	967	992	1.22e1	SMART
LRRcap	1031	1049	4.37e0	SMART
low complexity region	1109	1120	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000162159

SMART Domains

Protein: ENSMUSP00000124394
Gene: ENSMUSG00000021090

Domain	Start	End	E-Value	Type
LRR	53	74	5.39e2	SMART
LRR	75	96	1.14e2	SMART
LRR	97	118	7.9e-4	SMART
LRR	119	140	2.75e-3	SMART
LRR	141	164	2.27e1	SMART
LRR	164	185	1.87e1	SMART
LRRcap	210	228	6.12e1	SMART
low complexity region	373	384	N/A	INTRINSIC
low complexity region	424	436	N/A	INTRINSIC
LRR	705	726	1.41e2	SMART
LRR	727	748	6.78e1	SMART
LRR	749	771	1.37e1	SMART
LRRcap	792	810	2.26e2	SMART
LRR	898	919	2.62e1	SMART
LRR	920	941	5.17e1	SMART
LRR	942	965	2.67e-1	SMART
LRR	966	991	1.22e1	SMART
LRR	1013	1032	4.42e2	SMART
LRRcap	1030	1048	4.37e0	SMART
low complexity region	1108	1119	N/A	INTRINSIC
LRR	1128	1150	2.4e1	SMART
LRR	1191	1209	5.7e2	SMART
LRR	1215	1236	1.03e-2	SMART
LRR	1237	1260	8.48e0	SMART
LRR	1283	1304	2.67e-1	SMART
Blast:LRR	1308	1333	4e-6	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000221360

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (39/39)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap11a	A	T	2: 113,664,247 (GRCm39)	C679S	probably benign	Het
Atg4d	C	T	9: 21,179,756 (GRCm39)	L235F	possibly damaging	Het
Cyp2d22	A	T	15: 82,256,113 (GRCm39)	W174R	probably damaging	Het
Cyp4a14	T	A	4: 115,349,283 (GRCm39)	H259L	probably benign	Het
Dennd3	A	T	15: 73,416,229 (GRCm39)	H493L	probably damaging	Het
Dnm1	T	A	2: 32,202,738 (GRCm39)	D759V	probably damaging	Het
Dvl1	T	A	4: 155,940,710 (GRCm39)	N443K	probably damaging	Het
Dync2h1	A	G	9: 7,120,819 (GRCm39)	V2156A	probably benign	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Ermp1	T	C	19: 29,601,178 (GRCm39)	D523G	probably damaging	Het
Fam83c	A	G	2: 155,672,872 (GRCm39)	V295A	probably damaging	Het
Gphn	T	C	12: 78,727,170 (GRCm39)		probably null	Het
Irs1	T	A	1: 82,266,128 (GRCm39)	N696I	probably damaging	Het
Kmt5c	A	G	7: 4,745,628 (GRCm39)	Y96C	probably damaging	Het
Krt77	G	T	15: 101,771,358 (GRCm39)	T315N	probably damaging	Het
L3mbtl3	A	C	10: 26,178,761 (GRCm39)		probably null	Het
Lama3	A	T	18: 12,670,823 (GRCm39)	Y2409F	probably damaging	Het
Ltbp4	A	T	7: 27,008,488 (GRCm39)	N1273K	probably damaging	Het
Mfsd13b	G	A	7: 120,594,690 (GRCm39)	A321T	probably damaging	Het
Mvb12b	A	T	2: 33,715,128 (GRCm39)	H167Q	probably benign	Het
Myo1g	T	A	11: 6,467,146 (GRCm39)	N230Y	possibly damaging	Het
Or7a41	A	T	10: 78,871,051 (GRCm39)	R140S	possibly damaging	Het
Prkar2b	G	T	12: 32,043,785 (GRCm39)		probably null	Het
Pwwp2a	G	T	11: 43,596,592 (GRCm39)	A586S	possibly damaging	Het
Ryr1	A	G	7: 28,794,917 (GRCm39)	V1150A	possibly damaging	Het
Sh3bgr	A	G	16: 96,007,143 (GRCm39)		probably null	Het
Slk	T	C	19: 47,624,908 (GRCm39)		probably null	Het
Snx3	A	G	10: 42,402,032 (GRCm39)	E82G	possibly damaging	Het
Spring1	T	C	5: 118,397,047 (GRCm39)	V92A	possibly damaging	Het
Srcin1	A	T	11: 97,425,600 (GRCm39)	Y486N	possibly damaging	Het
Tecpr2	A	G	12: 110,895,521 (GRCm39)	E336G	probably benign	Het
Terf2ip	G	T	8: 112,744,834 (GRCm39)	V384F	probably damaging	Het
Tnn	T	A	1: 159,915,968 (GRCm39)	S1250C	probably damaging	Het
Tspoap1	A	G	11: 87,667,985 (GRCm39)	E1263G	possibly damaging	Het
Tubgcp5	A	G	7: 55,475,409 (GRCm39)	R932G	possibly damaging	Het
Utp25	C	A	1: 192,800,698 (GRCm39)	R374L	probably damaging	Het
Vmn1r175	A	G	7: 23,508,030 (GRCm39)	I199T	possibly damaging	Het
Vmn1r225	C	T	17: 20,722,763 (GRCm39)	A68V	probably benign	Het
Vmn2r24	A	T	6: 123,781,137 (GRCm39)	N448Y	possibly damaging	Het

Other mutations in Lrrc9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Lrrc9	APN	12	72,533,017 (GRCm39)	missense	possibly damaging	0.63
IGL00843:Lrrc9	APN	12	72,510,191 (GRCm39)	missense	possibly damaging	0.78
IGL01923:Lrrc9	APN	12	72,557,186 (GRCm39)	missense	possibly damaging	0.93
IGL02027:Lrrc9	APN	12	72,517,108 (GRCm39)	splice site	probably benign
IGL02271:Lrrc9	APN	12	72,557,155 (GRCm39)	missense	probably benign	0.06
IGL02398:Lrrc9	APN	12	72,513,677 (GRCm39)	missense	probably benign
IGL02795:Lrrc9	APN	12	72,525,542 (GRCm39)	missense	probably damaging	1.00
IGL02931:Lrrc9	APN	12	72,500,923 (GRCm39)	missense	probably damaging	1.00
IGL03257:Lrrc9	APN	12	72,496,542 (GRCm39)	missense	probably benign
BB006:Lrrc9	UTSW	12	72,533,071 (GRCm39)	missense	possibly damaging	0.92
BB016:Lrrc9	UTSW	12	72,533,071 (GRCm39)	missense	possibly damaging	0.92
IGL02799:Lrrc9	UTSW	12	72,553,178 (GRCm39)	missense	probably damaging	1.00
R0172:Lrrc9	UTSW	12	72,510,260 (GRCm39)	missense	possibly damaging	0.50
R0315:Lrrc9	UTSW	12	72,502,802 (GRCm39)	missense	probably damaging	0.96
R0492:Lrrc9	UTSW	12	72,525,537 (GRCm39)	missense	possibly damaging	0.47
R0617:Lrrc9	UTSW	12	72,529,788 (GRCm39)	missense	probably damaging	1.00
R0639:Lrrc9	UTSW	12	72,533,062 (GRCm39)	missense	probably damaging	1.00
R0987:Lrrc9	UTSW	12	72,557,156 (GRCm39)	missense	probably benign	0.00
R1325:Lrrc9	UTSW	12	72,543,878 (GRCm39)	missense	probably damaging	0.99
R1465:Lrrc9	UTSW	12	72,547,533 (GRCm39)	missense	probably benign	0.05
R1465:Lrrc9	UTSW	12	72,547,533 (GRCm39)	missense	probably benign	0.05
R1479:Lrrc9	UTSW	12	72,507,599 (GRCm39)	nonsense	probably null
R1564:Lrrc9	UTSW	12	72,533,827 (GRCm39)	missense	probably damaging	1.00
R1626:Lrrc9	UTSW	12	72,542,435 (GRCm39)	splice site	probably null
R1632:Lrrc9	UTSW	12	72,506,794 (GRCm39)	splice site	probably null
R1715:Lrrc9	UTSW	12	72,524,073 (GRCm39)	missense	probably damaging	1.00
R1743:Lrrc9	UTSW	12	72,502,891 (GRCm39)	missense	probably damaging	1.00
R1779:Lrrc9	UTSW	12	72,502,772 (GRCm39)	nonsense	probably null
R1866:Lrrc9	UTSW	12	72,543,912 (GRCm39)	missense	probably damaging	0.97
R1878:Lrrc9	UTSW	12	72,522,938 (GRCm39)	critical splice donor site	probably null
R1990:Lrrc9	UTSW	12	72,544,635 (GRCm39)	missense	probably damaging	0.99
R2361:Lrrc9	UTSW	12	72,510,244 (GRCm39)	missense	possibly damaging	0.52
R3752:Lrrc9	UTSW	12	72,507,580 (GRCm39)	nonsense	probably null
R3833:Lrrc9	UTSW	12	72,529,765 (GRCm39)	missense	probably damaging	1.00
R4134:Lrrc9	UTSW	12	72,513,740 (GRCm39)	missense	probably benign	0.00
R4651:Lrrc9	UTSW	12	72,524,160 (GRCm39)	missense	probably damaging	1.00
R4652:Lrrc9	UTSW	12	72,524,160 (GRCm39)	missense	probably damaging	1.00
R4659:Lrrc9	UTSW	12	72,517,038 (GRCm39)	missense	probably damaging	1.00
R4831:Lrrc9	UTSW	12	72,546,453 (GRCm39)	missense	probably damaging	1.00
R4857:Lrrc9	UTSW	12	72,546,466 (GRCm39)	missense	possibly damaging	0.94
R5017:Lrrc9	UTSW	12	72,553,099 (GRCm39)	missense	possibly damaging	0.86
R5163:Lrrc9	UTSW	12	72,496,163 (GRCm39)	missense	probably damaging	1.00
R5279:Lrrc9	UTSW	12	72,542,368 (GRCm39)	missense	possibly damaging	0.80
R5434:Lrrc9	UTSW	12	72,500,862 (GRCm39)	missense	probably damaging	0.98
R5783:Lrrc9	UTSW	12	72,502,827 (GRCm39)	missense	possibly damaging	0.62
R6021:Lrrc9	UTSW	12	72,516,005 (GRCm39)	missense	probably damaging	0.97
R6214:Lrrc9	UTSW	12	72,506,627 (GRCm39)	missense	probably damaging	1.00
R6255:Lrrc9	UTSW	12	72,533,797 (GRCm39)	missense	probably benign	0.33
R6538:Lrrc9	UTSW	12	72,547,703 (GRCm39)	missense	probably benign	0.08
R6672:Lrrc9	UTSW	12	72,520,710 (GRCm39)	missense	possibly damaging	0.88
R6919:Lrrc9	UTSW	12	72,553,167 (GRCm39)	missense	probably benign	0.01
R6929:Lrrc9	UTSW	12	72,497,546 (GRCm39)	missense	probably benign	0.41
R7092:Lrrc9	UTSW	12	72,510,238 (GRCm39)	missense	possibly damaging	0.81
R7150:Lrrc9	UTSW	12	72,513,726 (GRCm39)	missense	probably benign	0.00
R7338:Lrrc9	UTSW	12	72,510,305 (GRCm39)	splice site	probably null
R7398:Lrrc9	UTSW	12	72,547,590 (GRCm39)	missense	probably damaging	0.98
R7477:Lrrc9	UTSW	12	72,550,301 (GRCm39)	critical splice donor site	probably null
R7501:Lrrc9	UTSW	12	72,496,490 (GRCm39)	missense	probably damaging	1.00
R7542:Lrrc9	UTSW	12	72,553,094 (GRCm39)	missense	probably damaging	0.96
R7816:Lrrc9	UTSW	12	72,542,466 (GRCm39)	missense	probably damaging	1.00
R7870:Lrrc9	UTSW	12	72,532,964 (GRCm39)	missense	probably damaging	0.99
R7929:Lrrc9	UTSW	12	72,533,071 (GRCm39)	missense	possibly damaging	0.92
R8042:Lrrc9	UTSW	12	72,507,680 (GRCm39)	missense	probably benign	0.02
R8108:Lrrc9	UTSW	12	72,500,833 (GRCm39)	missense	probably damaging	1.00
R8192:Lrrc9	UTSW	12	72,496,163 (GRCm39)	missense	probably damaging	1.00
R8244:Lrrc9	UTSW	12	72,546,384 (GRCm39)	missense	probably benign	0.22
R8333:Lrrc9	UTSW	12	72,528,317 (GRCm39)	missense	probably benign	0.38
R9288:Lrrc9	UTSW	12	72,522,858 (GRCm39)	missense	probably benign	0.01
R9324:Lrrc9	UTSW	12	72,496,171 (GRCm39)	missense	probably damaging	1.00
R9342:Lrrc9	UTSW	12	72,506,767 (GRCm39)	missense	probably damaging	1.00
R9557:Lrrc9	UTSW	12	72,532,981 (GRCm39)	missense	probably benign	0.01
R9624:Lrrc9	UTSW	12	72,497,586 (GRCm39)	missense	probably benign	0.19
R9677:Lrrc9	UTSW	12	72,497,539 (GRCm39)	missense	probably damaging	1.00
X0025:Lrrc9	UTSW	12	72,543,834 (GRCm39)	missense	probably damaging	1.00
Z1176:Lrrc9	UTSW	12	72,524,167 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGCTGACAAAGTTAAGCCG -3'
(R):5'- ATCCCATACTTGTATCAGATGGCTG -3'

Sequencing Primer
(F):5'- AGTTAAGCCGCCTCAGCATG -3'
(R):5'- CAGATGGCTGTCATTTGTACATTTAC -3'

Posted On

2018-06-06