Mutagenetix > Incidental Mutation

Incidental Mutation 'R6788:Lnpk'

532469

Institutional Source

Beutler Lab

Gene Symbol

Lnpk

Ensembl Gene

ENSMUSG00000009207

Gene Name

lunapark, ER junction formation factor

Synonyms

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

MMRRC Submission

044902-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.849) question?

Stock #

R6788 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74350635-74409779 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74360020 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 332 (T332A)

Ref Sequence

ENSEMBL: ENSMUSP00000107624 (fasta)

Gene Model

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

AlphaFold

Q7TQ95

Predicted Effect

probably benign
Transcript: ENSMUST00000064503
AA Change: T332A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000066891
Gene: ENSMUSG00000009207
AA Change: T332A

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: T332A

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000099737
Gene: ENSMUSG00000009207
AA Change: T332A

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: T332A

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000107624
Gene: ENSMUSG00000009207
AA Change: T332A

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: ENSMUST00000130586

SMART Domains

Protein: ENSMUSP00000122488
Gene: ENSMUSG00000009207

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 98.9%
20x: 97.4%

Validation Efficiency

97% (68/70)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahctf1	A	T	1: 179,580,199 (GRCm39)	V2001E	probably benign	Het
Ahsg	A	G	16: 22,713,585 (GRCm39)	D122G	probably benign	Het
Ank3	A	G	10: 69,840,553 (GRCm39)	Y1616C	probably damaging	Het
Arhgef1	A	G	7: 24,619,205 (GRCm39)		probably null	Het
Atp7b	T	C	8: 22,494,391 (GRCm39)	I1023V	probably benign	Het
Bod1l	A	T	5: 41,979,216 (GRCm39)	Y699*	probably null	Het
Car12	C	T	9: 66,659,244 (GRCm39)	S183L	probably damaging	Het
Cep290	T	C	10: 100,324,490 (GRCm39)	S57P	probably damaging	Het
Cep57l1	T	C	10: 41,619,145 (GRCm39)	D74G	probably damaging	Het
Cers6	T	C	2: 68,938,903 (GRCm39)	Y374H	possibly damaging	Het
Chmp4c	T	A	3: 10,432,195 (GRCm39)	M35K	possibly damaging	Het
Crkl	G	A	16: 17,301,645 (GRCm39)	D300N	probably damaging	Het
Cyp3a41a	A	G	5: 145,642,639 (GRCm39)	M240T	probably benign	Het
Dipk2a	C	T	9: 94,406,502 (GRCm39)	V302I	probably benign	Het
Dnah12	G	T	14: 26,523,470 (GRCm39)	L1986F	probably damaging	Het
Dnah8	T	C	17: 30,867,439 (GRCm39)	I297T	probably benign	Het
Dock10	T	A	1: 80,508,962 (GRCm39)	I1610F	probably damaging	Het
Dpys	T	A	15: 39,720,559 (GRCm39)	H67L	probably damaging	Het
Epc2	T	G	2: 49,422,099 (GRCm39)	V331G	probably benign	Het
Fnbp1l	G	A	3: 122,339,956 (GRCm39)	R344*	probably null	Het
Gmip	G	T	8: 70,263,824 (GRCm39)	L89F	possibly damaging	Het
Gmip	G	C	8: 70,263,826 (GRCm39)	R90P	probably damaging	Het
Gpi1	A	G	7: 33,928,415 (GRCm39)	S74P	probably damaging	Het
Gys1	G	A	7: 45,094,102 (GRCm39)	E406K	probably damaging	Het
Hspg2	G	A	4: 137,242,618 (GRCm39)	G611E	probably damaging	Het
Klhl29	C	T	12: 5,134,393 (GRCm39)	V673M	probably damaging	Het
Loxl4	T	C	19: 42,596,792 (GRCm39)	D60G	probably damaging	Het
Lrr1	T	C	12: 69,221,449 (GRCm39)	I197T	probably damaging	Het
Map1lc3b	A	G	8: 122,320,316 (GRCm39)	N43S	probably benign	Het
Map3k21	A	T	8: 126,666,605 (GRCm39)	D599V	probably benign	Het
Mastl	T	C	2: 23,023,710 (GRCm39)	N338D	probably benign	Het
Mepe	A	T	5: 104,486,074 (GRCm39)	R405*	probably null	Het
Mrps30	T	C	13: 118,516,908 (GRCm39)	E437G	probably benign	Het
Mup15	A	G	4: 61,356,465 (GRCm39)	V100A	possibly damaging	Het
Olfml1	A	T	7: 107,167,075 (GRCm39)	I35F	probably damaging	Het
Olfml2a	T	A	2: 38,850,238 (GRCm39)	Y651*	probably null	Het
Or2h1b	T	A	17: 37,462,713 (GRCm39)	D50V	probably damaging	Het
Otog	T	C	7: 45,947,741 (GRCm39)	V113A	probably damaging	Het
Parvg	C	T	15: 84,210,464 (GRCm39)	L44F	possibly damaging	Het
Pcnx2	G	T	8: 126,498,839 (GRCm39)	D1553E	probably damaging	Het
Pcyt2	C	T	11: 120,505,200 (GRCm39)	G122S	probably damaging	Het
Pi4ka	A	G	16: 17,194,846 (GRCm39)	L184P	possibly damaging	Het
Polq	C	T	16: 36,897,510 (GRCm39)	T2134I	probably damaging	Het
Prkce	T	G	17: 86,937,489 (GRCm39)	F641V	probably damaging	Het
Prss1	T	C	6: 41,440,654 (GRCm39)	I243T	possibly damaging	Het
Pxmp2	A	G	5: 110,429,185 (GRCm39)	F91L	probably benign	Het
Ralgapb	G	A	2: 158,278,486 (GRCm39)	G5R	probably damaging	Het
Rasgef1a	T	G	6: 118,064,174 (GRCm39)	M337R	possibly damaging	Het
Rassf2	A	G	2: 131,844,845 (GRCm39)	M199T	probably damaging	Het
Rtbdn	A	T	8: 85,679,303 (GRCm39)	Y67F	probably null	Het
Scamp3	T	C	3: 89,089,256 (GRCm39)	V271A	probably benign	Het
Sema3a	A	T	5: 13,647,584 (GRCm39)	R613W	possibly damaging	Het
Slc4a3	A	T	1: 75,527,959 (GRCm39)	I206F	probably damaging	Het
Slc9b1	A	G	3: 135,063,518 (GRCm39)		probably null	Het
Smchd1	C	A	17: 71,782,096 (GRCm39)	V22F	probably benign	Het
Smg1	A	G	7: 117,783,794 (GRCm39)		probably benign	Het
Spaca7b	T	C	8: 11,728,584 (GRCm39)	E29G	possibly damaging	Het
Spata31e4	A	C	13: 50,857,131 (GRCm39)	H923P	probably damaging	Het
Stab1	A	G	14: 30,861,117 (GRCm39)	L89P	probably damaging	Het
Stim1	A	G	7: 102,076,498 (GRCm39)	E152G	probably damaging	Het
Tenm3	A	G	8: 49,127,528 (GRCm39)	F50S	probably damaging	Het
Tpgs2	T	G	18: 25,262,927 (GRCm39)	N231H	probably benign	Het
Trank1	T	A	9: 111,219,747 (GRCm39)	N2161K	probably damaging	Het
Trim28	A	G	7: 12,759,273 (GRCm39)	D129G	probably benign	Het
Trim66	A	T	7: 109,076,961 (GRCm39)	I326N	probably damaging	Het
Trim80	A	T	11: 115,338,843 (GRCm39)	T558S	probably benign	Het
Uggt1	T	A	1: 36,269,769 (GRCm39)	T83S	probably benign	Het
Wdr91	A	G	6: 34,863,754 (GRCm39)	I587T	probably damaging	Het
Zpld1	A	T	16: 55,052,603 (GRCm39)	V337D	possibly 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
R5610:Lnpk	UTSW	2	74,378,369 (GRCm39)	missense	probably benign	0.02
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
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'- CGTACGTGTGCATGCTTAAG -3'
(R):5'- TACATCTTCTTGAACAAGATTCTGG -3'

Sequencing Primer
(F):5'- ACGTGTGCATGCTTAAGAATCTG -3'
(R):5'- ACGGCTTCCAGAGTTTAG -3'

Posted On

2018-08-29