Mutagenetix > Incidental Mutation

Incidental Mutation 'R0420:Lrrc45'

37010

Institutional Source

Beutler Lab

Gene Symbol

Lrrc45

Ensembl Gene

ENSMUSG00000025145

Gene Name

leucine rich repeat containing 45

Synonyms

MMRRC Submission

038622-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.193) question?

Stock #

R0420 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120604779-120611954 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 120606045 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 118 (S118R)

Ref Sequence

ENSEMBL: ENSMUSP00000026139 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026137] [ENSMUST00000026139] [ENSMUST00000055424] [ENSMUST00000106154] [ENSMUST00000106155] [ENSMUST00000145781] [ENSMUST00000151852]

AlphaFold

Q8CIM1

Predicted Effect

probably benign
Transcript: ENSMUST00000026137

SMART Domains

Protein: ENSMUSP00000026137
Gene: ENSMUSG00000025144

Domain	Start	End	E-Value	Type
Pfam:CENP-X	55	107	3e-16	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000026139
AA Change: S118R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000026139
Gene: ENSMUSG00000025145
AA Change: S118R

Domain	Start	End	E-Value	Type
LRR	57	84	9.11e0	SMART
LRR	85	112	1.01e-1	SMART
Blast:LRR	113	142	4e-11	BLAST
LRR	143	170	4.47e-3	SMART
LRR	171	198	2.2e-2	SMART
LRR	199	226	1.66e2	SMART
coiled coil region	360	645	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000055424

SMART Domains

Protein: ENSMUSP00000050335
Gene: ENSMUSG00000025144

Domain	Start	End	E-Value	Type
Pfam:CENP-X	8	78	7.7e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106154

SMART Domains

Protein: ENSMUSP00000101760
Gene: ENSMUSG00000025144

Domain	Start	End	E-Value	Type
Pfam:CENP-X	44	114	6.1e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106155

SMART Domains

Protein: ENSMUSP00000101761
Gene: ENSMUSG00000025144

Domain	Start	End	E-Value	Type
low complexity region	39	50	N/A	INTRINSIC
low complexity region	86	110	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128543

Predicted Effect

probably damaging
Transcript: ENSMUST00000145781
AA Change: S118R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000123038
Gene: ENSMUSG00000025145
AA Change: S118R

Domain	Start	End	E-Value	Type
LRR	57	84	9.11e0	SMART
LRR	85	112	1.01e-1	SMART
Blast:LRR	113	142	1e-10	BLAST
LRR	143	170	4.47e-3	SMART
LRR	171	198	2.2e-2	SMART
LRR	199	226	1.66e2	SMART
coiled coil region	360	399	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000151852
AA Change: S118R

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000115298
Gene: ENSMUSG00000025145
AA Change: S118R

Domain	Start	End	E-Value	Type
low complexity region	50	65	N/A	INTRINSIC
Pfam:LRR_6	85	108	1e-2	PFAM
Blast:LRR	113	142	3e-11	BLAST
Pfam:LRR_6	143	162	7.6e-3	PFAM
Pfam:LRR_1	145	159	6.8e-2	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155187

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150225

Meta Mutation Damage Score

0.0807

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.2%

Validation Efficiency

100% (76/76)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	C	5: 8,991,050 (GRCm39)	V870A	probably benign	Het
Adam6b	A	T	12: 113,453,614 (GRCm39)	M144L	probably benign	Het
Adrb2	T	A	18: 62,312,610 (GRCm39)	I72L	possibly damaging	Het
Ankrd53	A	T	6: 83,740,674 (GRCm39)	H99L	probably damaging	Het
Ap4e1	C	T	2: 126,891,280 (GRCm39)	T17M	probably damaging	Het
Arnt	T	A	3: 95,377,705 (GRCm39)		probably benign	Het
Atp1a3	C	T	7: 24,680,052 (GRCm39)	G884E	probably benign	Het
Atp6v1b1	T	C	6: 83,729,826 (GRCm39)		probably benign	Het
Atp8a2	G	T	14: 60,011,193 (GRCm39)	T971K	probably damaging	Het
BC048562	A	T	9: 108,323,165 (GRCm39)	T167S	probably benign	Het
Brd9	A	G	13: 74,103,592 (GRCm39)	M491V	probably benign	Het
Btnl10	A	T	11: 58,814,277 (GRCm39)	D319V	probably damaging	Het
Cadps	T	A	14: 12,491,800 (GRCm38)	R783S	probably damaging	Het
Ccdc149	A	G	5: 52,557,581 (GRCm39)		probably benign	Het
Ccm2l	A	T	2: 152,912,782 (GRCm39)	D107V	probably null	Het
Cep192	A	G	18: 67,946,964 (GRCm39)	E213G	possibly damaging	Het
Cyp2c37	A	C	19: 39,984,238 (GRCm39)	N242T	probably benign	Het
Dnah17	A	G	11: 117,930,765 (GRCm39)	V3750A	probably damaging	Het
Ehbp1	T	A	11: 22,101,836 (GRCm39)	I231L	probably benign	Het
Emilin3	A	G	2: 160,752,799 (GRCm39)		probably benign	Het
Eya4	T	C	10: 23,031,861 (GRCm39)	N254S	possibly damaging	Het
Fam184b	A	G	5: 45,741,854 (GRCm39)	S126P	probably damaging	Het
Fancd2	T	C	6: 113,513,940 (GRCm39)	L108P	probably damaging	Het
Fgf12	A	T	16: 27,981,281 (GRCm39)	M145K	possibly damaging	Het
Gabbr1	A	G	17: 37,357,654 (GRCm39)	N23S	possibly damaging	Het
Ggt1	T	A	10: 75,412,047 (GRCm39)		probably benign	Het
Gm6434	T	A	7: 25,581,786 (GRCm39)		noncoding transcript	Het
Grik4	A	T	9: 42,533,392 (GRCm39)	L376*	probably null	Het
Gvin3	T	A	7: 106,203,090 (GRCm39)	L51F	probably damaging	Het
Gzf1	A	G	2: 148,525,753 (GRCm39)	T75A	probably benign	Het
Hcn1	T	C	13: 118,111,911 (GRCm39)	I625T	unknown	Het
Hhat	C	T	1: 192,235,242 (GRCm39)		probably null	Het
Ifit1bl1	T	C	19: 34,571,914 (GRCm39)	E181G	probably damaging	Het
Kif21a	T	C	15: 90,852,257 (GRCm39)		probably benign	Het
Mcm9	T	C	10: 53,424,623 (GRCm39)	I656V	probably benign	Het
Ms4a5	A	G	19: 11,261,018 (GRCm39)	L47S	probably damaging	Het
Mynn	A	T	3: 30,661,608 (GRCm39)	N230I	probably benign	Het
Nck2	T	C	1: 43,593,278 (GRCm39)	S162P	probably damaging	Het
Nfat5	T	C	8: 108,094,093 (GRCm39)	F259S	probably damaging	Het
Obox1	T	G	7: 15,290,178 (GRCm39)	S174A	possibly damaging	Het
Ociad1	T	A	5: 73,470,772 (GRCm39)		probably null	Het
Pgbd1	A	T	13: 21,607,336 (GRCm39)	V286E	possibly damaging	Het
Phlpp2	T	C	8: 110,666,567 (GRCm39)	V1032A	probably damaging	Het
Ppm1e	C	T	11: 87,131,440 (GRCm39)	A318T	probably damaging	Het
Prex1	T	A	2: 166,431,491 (GRCm39)	D757V	probably benign	Het
Ptpdc1	C	A	13: 48,742,595 (GRCm39)		probably null	Het
Rbbp5	T	G	1: 132,421,582 (GRCm39)	I94R	possibly damaging	Het
Rnpc3	A	G	3: 113,415,518 (GRCm39)	V173A	probably benign	Het
Sgsm1	A	T	5: 113,411,625 (GRCm39)	N700K	probably benign	Het
Slco1a8	T	G	6: 141,931,203 (GRCm39)		probably benign	Het
Sox14	T	A	9: 99,757,175 (GRCm39)	H188L	probably damaging	Het
Spmip11	A	G	15: 98,468,975 (GRCm39)	S17G	probably benign	Het
Supt5	T	A	7: 28,016,754 (GRCm39)		probably benign	Het
Synpo	A	G	18: 60,735,490 (GRCm39)	S819P	probably damaging	Het
Tenm2	A	G	11: 36,097,951 (GRCm39)		probably benign	Het
Tenm4	T	C	7: 96,522,973 (GRCm39)	V1468A	possibly damaging	Het
Tiam2	A	G	17: 3,553,193 (GRCm39)	N83S	probably benign	Het
Tle6	T	C	10: 81,431,145 (GRCm39)		probably benign	Het
Tm2d2	T	G	8: 25,508,130 (GRCm39)	N91K	probably damaging	Het
Tmem132d	T	G	5: 127,941,710 (GRCm39)	Q463H	probably benign	Het
Tmf1	A	G	6: 97,153,102 (GRCm39)	S324P	probably damaging	Het
Tnc	T	C	4: 63,918,396 (GRCm39)	T1172A	probably benign	Het
Usp17lb	A	T	7: 104,489,746 (GRCm39)	C393S	probably benign	Het
Usp42	G	A	5: 143,700,616 (GRCm39)	L1136F	probably damaging	Het
Vmn2r92	T	G	17: 18,389,183 (GRCm39)	M499R	probably benign	Het
Vps54	T	A	11: 21,261,071 (GRCm39)		probably benign	Het
Wdr6	C	T	9: 108,450,300 (GRCm39)	R1076H	probably benign	Het
Wdr72	T	A	9: 74,118,039 (GRCm39)	M917K	possibly damaging	Het
Wee2	T	C	6: 40,433,929 (GRCm39)	V281A	probably benign	Het
Zc3h6	A	G	2: 128,856,747 (GRCm39)	D609G	probably benign	Het
Zfp345	G	A	2: 150,315,163 (GRCm39)	H125Y	possibly damaging	Het
Zhx2	A	G	15: 57,685,236 (GRCm39)	K202E	probably damaging	Het
Zic2	CCCACCACCACCATCACCACCACCACC	CCCACCATCACCACCACCACC	14: 122,713,776 (GRCm39)		probably benign	Het

Other mutations in Lrrc45

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00850:Lrrc45	APN	11	120,611,436 (GRCm39)	splice site	probably benign
IGL01120:Lrrc45	APN	11	120,610,836 (GRCm39)	missense	probably benign
IGL01536:Lrrc45	APN	11	120,606,410 (GRCm39)	missense	probably benign	0.01
IGL01839:Lrrc45	APN	11	120,607,975 (GRCm39)	splice site	probably null
IGL02190:Lrrc45	APN	11	120,609,334 (GRCm39)	missense	probably damaging	0.99
IGL02302:Lrrc45	APN	11	120,609,351 (GRCm39)	missense	possibly damaging	0.68
IGL02724:Lrrc45	APN	11	120,609,144 (GRCm39)	missense	probably benign	0.25
BB002:Lrrc45	UTSW	11	120,606,706 (GRCm39)	missense	probably benign
BB012:Lrrc45	UTSW	11	120,606,706 (GRCm39)	missense	probably benign
R0396:Lrrc45	UTSW	11	120,605,733 (GRCm39)	splice site	probably benign
R0540:Lrrc45	UTSW	11	120,605,988 (GRCm39)	nonsense	probably null
R0833:Lrrc45	UTSW	11	120,609,019 (GRCm39)	splice site	probably null
R0942:Lrrc45	UTSW	11	120,609,064 (GRCm39)	unclassified	probably benign
R1252:Lrrc45	UTSW	11	120,606,297 (GRCm39)	missense	probably benign	0.13
R1426:Lrrc45	UTSW	11	120,610,839 (GRCm39)	missense	probably benign	0.00
R1543:Lrrc45	UTSW	11	120,610,844 (GRCm39)	missense	probably benign	0.06
R1570:Lrrc45	UTSW	11	120,610,935 (GRCm39)	critical splice donor site	probably null
R2392:Lrrc45	UTSW	11	120,610,365 (GRCm39)	missense	probably benign	0.00
R3000:Lrrc45	UTSW	11	120,609,273 (GRCm39)	missense	probably benign	0.00
R3930:Lrrc45	UTSW	11	120,609,503 (GRCm39)	missense	probably benign	0.06
R4158:Lrrc45	UTSW	11	120,609,272 (GRCm39)	missense	possibly damaging	0.52
R4161:Lrrc45	UTSW	11	120,609,272 (GRCm39)	missense	possibly damaging	0.52
R4432:Lrrc45	UTSW	11	120,606,047 (GRCm39)	critical splice donor site	probably null
R4647:Lrrc45	UTSW	11	120,609,947 (GRCm39)	missense	probably benign	0.02
R6030:Lrrc45	UTSW	11	120,611,474 (GRCm39)	nonsense	probably null
R6030:Lrrc45	UTSW	11	120,611,474 (GRCm39)	nonsense	probably null
R6220:Lrrc45	UTSW	11	120,610,353 (GRCm39)	missense	probably benign	0.37
R7676:Lrrc45	UTSW	11	120,611,148 (GRCm39)	missense	probably damaging	1.00
R7925:Lrrc45	UTSW	11	120,606,706 (GRCm39)	missense	probably benign
R9067:Lrrc45	UTSW	11	120,606,649 (GRCm39)	missense	possibly damaging	0.92
R9069:Lrrc45	UTSW	11	120,607,947 (GRCm39)	missense	probably benign
R9366:Lrrc45	UTSW	11	120,611,552 (GRCm39)	missense	probably damaging	1.00
X0026:Lrrc45	UTSW	11	120,611,058 (GRCm39)	missense	probably damaging	1.00
Z1088:Lrrc45	UTSW	11	120,611,057 (GRCm39)	missense	probably damaging	1.00
Z1177:Lrrc45	UTSW	11	120,609,491 (GRCm39)	missense	possibly damaging	0.90
Z1177:Lrrc45	UTSW	11	120,609,479 (GRCm39)	missense	probably benign	0.43

Predicted Primers

PCR Primer
(F):5'- TACACAGGGTCCACACTGCTGTTC -3'
(R):5'- TGCCAAGGTTGTTCCACTCCAG -3'

Sequencing Primer
(F):5'- ACACTGCTGTTCCAAGGG -3'
(R):5'- TGTTTTTGGCTCAGCAGAACAC -3'

Posted On

2013-05-09