Mutagenetix > Incidental Mutation

Incidental Mutation 'R5610:Lnpk'

501254

Institutional Source

Beutler Lab

Gene Symbol

Lnpk

Ensembl Gene

ENSMUSG00000009207

Gene Name

lunapark, ER junction formation factor

Synonyms

4921514L11Rik, Lnpk1, lunapark, Lnp, 9530051D01Rik, 2310011O18Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.849) question?

Stock #

R5610 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74350635-74409779 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74378369 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 131 (T131A)

Ref Sequence

ENSEMBL: ENSMUSP00000066891 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064503] [ENSMUST00000102676] [ENSMUST00000111993] [ENSMUST00000130232] [ENSMUST00000130586]

AlphaFold

Q7TQ95

Predicted Effect

probably benign
Transcript: ENSMUST00000064503
AA Change: T131A

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000066891
Gene: ENSMUSG00000009207
AA Change: T131A

Domain	Start	End	E-Value	Type
coiled coil region	15	41	N/A	INTRINSIC
transmembrane domain	44	66	N/A	INTRINSIC
transmembrane domain	76	98	N/A	INTRINSIC
coiled coil region	100	129	N/A	INTRINSIC
low complexity region	177	198	N/A	INTRINSIC
low complexity region	228	245	N/A	INTRINSIC
Pfam:zinc_ribbon_10	250	300	7.4e-25	PFAM
low complexity region	383	401	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000102676
AA Change: T131A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000099737
Gene: ENSMUSG00000009207
AA Change: T131A

Domain	Start	End	E-Value	Type
coiled coil region	15	41	N/A	INTRINSIC
transmembrane domain	44	66	N/A	INTRINSIC
transmembrane domain	76	98	N/A	INTRINSIC
coiled coil region	100	129	N/A	INTRINSIC
low complexity region	177	198	N/A	INTRINSIC
low complexity region	228	245	N/A	INTRINSIC
Pfam:DUF2296	250	300	2.1e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111993
AA Change: T131A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000107624
Gene: ENSMUSG00000009207
AA Change: T131A

Domain	Start	End	E-Value	Type
coiled coil region	15	41	N/A	INTRINSIC
transmembrane domain	44	66	N/A	INTRINSIC
transmembrane domain	76	98	N/A	INTRINSIC
coiled coil region	100	129	N/A	INTRINSIC
low complexity region	177	198	N/A	INTRINSIC
low complexity region	228	245	N/A	INTRINSIC
Pfam:DUF2296	250	300	2.1e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000130232
AA Change: T131A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000120494
Gene: ENSMUSG00000009207
AA Change: T131A

Domain	Start	End	E-Value	Type
coiled coil region	15	41	N/A	INTRINSIC
transmembrane domain	44	66	N/A	INTRINSIC
transmembrane domain	76	98	N/A	INTRINSIC
coiled coil region	100	129	N/A	INTRINSIC
low complexity region	177	196	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000130586
AA Change: T131A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000122488
Gene: ENSMUSG00000009207
AA Change: T131A

Domain	Start	End	E-Value	Type
coiled coil region	15	41	N/A	INTRINSIC
transmembrane domain	44	66	N/A	INTRINSIC
transmembrane domain	76	98	N/A	INTRINSIC
coiled coil region	100	129	N/A	INTRINSIC
low complexity region	177	198	N/A	INTRINSIC
low complexity region	228	245	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134641

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134764

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145933

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155006

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154706

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

MGI Phenotype

PHENOTYPE: A semidominant X-ray-induced mutation results in severe length reductions of forelimb and hindlimb zeugopods, near absence of ulna, abnormal articulations in the carpus and tarsus, and genetic background-sensitive postnatal survival; heterozygous males do not breed and show increased bleeding times. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	A	G	5: 144,982,156 (GRCm39)	D247G	possibly damaging	Het
1700123K08Rik	A	G	5: 138,562,403 (GRCm39)		probably null	Het
Abca8b	C	A	11: 109,868,639 (GRCm39)	G175V	probably damaging	Het
Accsl	C	A	2: 93,692,118 (GRCm39)		probably null	Het
Adad2	C	T	8: 120,341,500 (GRCm39)	R171C	probably benign	Het
Adgrv1	A	C	13: 81,669,236 (GRCm39)	L2440R	probably damaging	Het
Antxr1	A	G	6: 87,232,845 (GRCm39)	V239A	probably damaging	Het
Aoc1l2	G	A	6: 48,907,953 (GRCm39)	V318I	probably benign	Het
Arhgap28	G	A	17: 68,203,235 (GRCm39)	Q73*	probably null	Het
Arrdc5	C	T	17: 56,604,846 (GRCm39)	R147H	probably benign	Het
Ash1l	T	C	3: 88,930,492 (GRCm39)	Y1990H	probably damaging	Het
Bank1	T	C	3: 135,772,148 (GRCm39)	E494G	probably damaging	Het
Bicral	A	T	17: 47,119,418 (GRCm39)	I701N	probably damaging	Het
Bod1l	T	C	5: 41,979,217 (GRCm39)	Y699C	probably damaging	Het
C3ar1	T	G	6: 122,827,537 (GRCm39)	T227P	probably benign	Het
Ccr3	C	A	9: 123,829,518 (GRCm39)	D284E	probably damaging	Het
Cdh13	T	C	8: 119,578,462 (GRCm39)	V163A	possibly damaging	Het
CK137956	C	T	4: 127,840,440 (GRCm39)		probably null	Het
Cltc	T	C	11: 86,612,472 (GRCm39)	S529G	probably benign	Het
Cplane2	C	T	4: 140,947,177 (GRCm39)	P186L	probably benign	Het
Ddx11	A	G	17: 66,457,021 (GRCm39)	K783E	probably damaging	Het
Dnah3	T	A	7: 119,538,288 (GRCm39)		probably null	Het
Eef2k	A	G	7: 120,486,005 (GRCm39)	H408R	probably benign	Het
Esr1	A	G	10: 4,951,221 (GRCm39)	K533R	probably damaging	Het
Fat1	T	A	8: 45,406,109 (GRCm39)	Y953*	probably null	Het
Fosl1	T	A	19: 5,505,133 (GRCm39)		probably null	Het
Frmd4b	A	G	6: 97,283,752 (GRCm39)	M373T	probably benign	Het
Gm1968	A	G	16: 29,777,557 (GRCm39)		noncoding transcript	Het
Gpr26	T	C	7: 131,568,694 (GRCm39)	V13A	possibly damaging	Het
Gtf3c1	T	C	7: 125,303,117 (GRCm39)	N106S	possibly damaging	Het
Itgb8	T	G	12: 119,134,429 (GRCm39)	E546A	probably damaging	Het
Itpr3	C	T	17: 27,337,540 (GRCm39)	T2450M	probably benign	Het
Kif1a	A	T	1: 92,953,450 (GRCm39)	Y1245N	probably damaging	Het
Klrb1f	G	A	6: 129,031,335 (GRCm39)		probably null	Het
Lars1	A	G	18: 42,390,156 (GRCm39)	L37P	probably benign	Het
Mob3c	C	T	4: 115,690,878 (GRCm39)	T156I	probably benign	Het
Nadk	T	A	4: 155,668,628 (GRCm39)	W100R	probably damaging	Het
Npy6r	A	T	18: 44,409,061 (GRCm39)	I161F	probably benign	Het
Or4c107	A	C	2: 88,789,170 (GRCm39)	D120A	probably damaging	Het
Or6c204	G	A	10: 129,022,426 (GRCm39)	T288I	probably damaging	Het
Pcdhga3	A	G	18: 37,808,276 (GRCm39)	E243G	possibly damaging	Het
Pdss2	A	G	10: 43,315,828 (GRCm39)	T361A	probably benign	Het
Pkd1l2	G	T	8: 117,769,059 (GRCm39)	Q1198K	probably benign	Het
Prdx1	T	A	4: 116,550,124 (GRCm39)	I102N	probably damaging	Het
Prss1	G	A	6: 41,438,147 (GRCm39)	V25I	probably benign	Het
Pspc1	A	G	14: 57,015,388 (GRCm39)	Y77H	probably damaging	Het
Rnf5	T	C	17: 34,820,712 (GRCm39)		probably benign	Het
Ryr1	C	A	7: 28,811,399 (GRCm39)	M235I	probably benign	Het
Sec24c	A	G	14: 20,741,893 (GRCm39)	Y776C	probably damaging	Het
Sharpin	A	G	15: 76,234,253 (GRCm39)		probably null	Het
Slc12a4	C	A	8: 106,676,845 (GRCm39)	V482L	possibly damaging	Het
Slc38a1	C	T	15: 96,514,022 (GRCm39)		probably null	Het
Smtn	G	T	11: 3,479,582 (GRCm39)	T495N	probably damaging	Het
Sncaip	A	G	18: 53,001,991 (GRCm39)	T171A	probably benign	Het
Sprr2e	T	C	3: 92,260,399 (GRCm39)	*77R	probably null	Het
Syngap1	T	A	17: 27,178,754 (GRCm39)	D443E	possibly damaging	Het
Taldo1	T	C	7: 140,972,205 (GRCm39)	V24A	probably damaging	Het
Tfap2c	T	A	2: 172,391,778 (GRCm39)	N8K	probably benign	Het
Tmem229a	T	C	6: 24,955,580 (GRCm39)	Y58C	probably damaging	Het
Tubgcp3	T	C	8: 12,689,577 (GRCm39)	Y563C	probably damaging	Het
Ubr1	T	A	2: 120,722,593 (GRCm39)	D1342V	probably benign	Het
Usp7	C	T	16: 8,534,374 (GRCm39)		probably null	Het
Wbp1	C	T	6: 83,097,216 (GRCm39)	G75D	probably damaging	Het
Zfp180	G	T	7: 23,804,315 (GRCm39)	V245F	probably benign	Het
Zfp414	C	T	17: 33,849,012 (GRCm39)	T33I	probably damaging	Het
Zfp646	T	A	7: 127,478,530 (GRCm39)	C236S	probably damaging	Het

Other mutations in Lnpk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02166:Lnpk	APN	2	74,360,061 (GRCm39)	missense	probably damaging	1.00
IGL02653:Lnpk	APN	2	74,378,392 (GRCm39)	missense	probably damaging	1.00
R0173:Lnpk	UTSW	2	74,381,409 (GRCm39)	missense	probably damaging	1.00
R0242:Lnpk	UTSW	2	74,367,633 (GRCm39)	splice site	probably benign
R1579:Lnpk	UTSW	2	74,378,340 (GRCm39)	missense	probably damaging	1.00
R2192:Lnpk	UTSW	2	74,399,373 (GRCm39)	missense	probably benign	0.13
R2698:Lnpk	UTSW	2	74,367,845 (GRCm39)	missense	probably damaging	1.00
R3788:Lnpk	UTSW	2	74,352,607 (GRCm39)	missense	probably benign	0.00
R3789:Lnpk	UTSW	2	74,352,607 (GRCm39)	missense	probably benign	0.00
R3790:Lnpk	UTSW	2	74,352,607 (GRCm39)	missense	probably benign	0.00
R4198:Lnpk	UTSW	2	74,399,453 (GRCm39)	missense	probably damaging	0.99
R4547:Lnpk	UTSW	2	74,352,630 (GRCm39)	missense	probably benign	0.14
R5244:Lnpk	UTSW	2	74,362,232 (GRCm39)	missense	probably damaging	1.00
R5347:Lnpk	UTSW	2	74,403,935 (GRCm39)	start gained	probably benign
R5516:Lnpk	UTSW	2	74,378,132 (GRCm39)	intron	probably benign
R5859:Lnpk	UTSW	2	74,399,372 (GRCm39)	missense	possibly damaging	0.93
R5984:Lnpk	UTSW	2	74,352,543 (GRCm39)	missense	probably benign	0.00
R6788:Lnpk	UTSW	2	74,360,020 (GRCm39)	missense	probably benign	0.02
R7597:Lnpk	UTSW	2	74,399,316 (GRCm39)	missense	probably benign	0.28
R8062:Lnpk	UTSW	2	74,381,407 (GRCm39)	missense	possibly damaging	0.90
R8103:Lnpk	UTSW	2	74,352,599 (GRCm39)	missense	probably benign	0.10
R8916:Lnpk	UTSW	2	74,358,486 (GRCm39)	missense	probably benign	0.18
R9463:Lnpk	UTSW	2	74,381,403 (GRCm39)	critical splice donor site	probably null
R9609:Lnpk	UTSW	2	74,401,298 (GRCm39)	missense	probably damaging	0.98
Z1177:Lnpk	UTSW	2	74,403,906 (GRCm39)	start codon destroyed	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- CTGGCTTTGCAGTTACAGC -3'
(R):5'- TTGGTATTTCCTTGCAGAAAAGCTG -3'

Sequencing Primer
(F):5'- GGCTCAAACTCCTGTCAA -3'
(R):5'- CCTTGCAGAAAAGCTGTTAAAATGC -3'

Posted On

2017-12-01