Mutagenetix > Incidental Mutation

Incidental Mutation 'R3788:Lnpk'

272358

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: 0.874) question?

Stock #

R3788 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74350635-74409779 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 74352607 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 358 (S358R)

Ref Sequence

ENSEMBL: ENSMUSP00000066891 (fasta)

Gene Model

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

AlphaFold

Q7TQ95

Predicted Effect

probably benign
Transcript: ENSMUST00000064503
AA Change: S358R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000066891
Gene: ENSMUSG00000009207
AA Change: S358R

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

SMART Domains

Protein: ENSMUSP00000099737
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
Pfam:DUF2296	250	300	2.1e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111993

SMART Domains

Protein: ENSMUSP00000107624
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
Pfam:DUF2296	250	300	2.1e-25	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127168

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134641

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

100% (61/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 121,846,561 (GRCm39)	V26E	possibly damaging	Het
Abhd16a	A	G	17: 35,320,563 (GRCm39)	N411S	probably damaging	Het
Akap13	G	A	7: 75,351,901 (GRCm39)		probably null	Het
Aph1b	T	C	9: 66,701,348 (GRCm39)		probably benign	Het
Aspm	C	T	1: 139,390,941 (GRCm39)	T742I	probably damaging	Het
Bclaf3	A	G	X: 158,349,492 (GRCm39)	H619R	probably benign	Het
Bltp2	T	A	11: 78,179,123 (GRCm39)		probably null	Het
Cemip	A	T	7: 83,593,106 (GRCm39)	L1199H	probably damaging	Het
Chd2	G	A	7: 73,096,878 (GRCm39)		probably benign	Het
Clnk	A	G	5: 38,872,341 (GRCm39)	Y310H	probably damaging	Het
Crmp1	A	G	5: 37,441,484 (GRCm39)	D522G	probably damaging	Het
Cyth3	A	G	5: 143,622,298 (GRCm39)		probably benign	Het
Dcbld1	T	A	10: 52,195,754 (GRCm39)	Y392N	probably damaging	Het
Flnc	T	C	6: 29,454,056 (GRCm39)	F1820L	probably damaging	Het
Galnt18	G	A	7: 111,119,322 (GRCm39)	R385*	probably null	Het
Gpatch3	C	A	4: 133,302,479 (GRCm39)	R137S	possibly damaging	Het
Gpc6	C	T	14: 117,861,878 (GRCm39)	P265S	probably damaging	Het
Harbi1	T	A	2: 91,550,952 (GRCm39)	D308E	probably benign	Het
Hdhd2	G	A	18: 77,042,883 (GRCm39)		probably null	Het
Hk1	T	C	10: 62,111,467 (GRCm39)	K737E	possibly damaging	Het
Hnrnpr	G	A	4: 136,063,624 (GRCm39)	V345M	probably damaging	Het
Ift56	T	A	6: 38,380,459 (GRCm39)		probably null	Het
Kalrn	T	C	16: 34,040,610 (GRCm39)	H944R	probably damaging	Het
Kdm2a	A	T	19: 4,401,833 (GRCm39)	C207S	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Krt75	C	T	15: 101,481,956 (GRCm39)	G104D	possibly damaging	Het
Map2	A	G	1: 66,456,022 (GRCm39)	T1512A	probably damaging	Het
Marchf10	T	A	11: 105,287,905 (GRCm39)	L132F	probably damaging	Het
Mfrp	G	A	9: 44,016,754 (GRCm39)	W65*	probably null	Het
Mgat5	A	G	1: 127,294,180 (GRCm39)	D174G	probably benign	Het
Miga2	T	A	2: 30,261,237 (GRCm39)	Y177*	probably null	Het
Mroh3	T	C	1: 136,113,213 (GRCm39)	D747G	probably damaging	Het
Muc5b	A	G	7: 141,417,571 (GRCm39)	T3506A	possibly damaging	Het
Myo7b	G	T	18: 32,107,165 (GRCm39)	P1277T	possibly damaging	Het
Naaa	C	T	5: 92,420,413 (GRCm39)		probably null	Het
Ndufs2	T	C	1: 171,062,889 (GRCm39)	D410G	possibly damaging	Het
Or51a25	A	G	7: 102,372,694 (GRCm39)		probably null	Het
Or5p78	T	A	7: 108,212,280 (GRCm39)	Y255*	probably null	Het
Or7e177	A	G	9: 20,211,666 (GRCm39)	I58V	probably benign	Het
Or8g35	A	G	9: 39,381,365 (GRCm39)	I219T	probably benign	Het
Osbp	A	T	19: 11,956,285 (GRCm39)	Y409F	probably benign	Het
Plxnb1	T	A	9: 108,938,355 (GRCm39)	V1303D	possibly damaging	Het
Prkcg	G	A	7: 3,362,263 (GRCm39)	D246N	probably damaging	Het
Ranbp17	GCCTGGATACTGACC	GCC	11: 33,169,203 (GRCm39)		probably benign	Het
Sbf1	G	A	15: 89,183,731 (GRCm39)	R1261*	probably null	Het
Scn4a	T	C	11: 106,235,100 (GRCm39)	N341S	probably damaging	Het
Sec61a2	C	A	2: 5,884,436 (GRCm39)		probably null	Het
Sgcd	T	A	11: 47,246,032 (GRCm39)	K57*	probably null	Het
Sinhcaf	A	G	6: 148,827,617 (GRCm39)	S134P	possibly damaging	Het
Slc12a5	T	C	2: 164,835,695 (GRCm39)	L861P	probably damaging	Het
Slc6a16	A	G	7: 44,909,386 (GRCm39)	D184G	probably benign	Het
Snx7	A	G	3: 117,632,639 (GRCm39)		probably benign	Het
Sptbn2	A	G	19: 4,795,950 (GRCm39)	I1710V	probably damaging	Het
Sytl2	A	T	7: 90,025,289 (GRCm39)	I426F	probably benign	Het
Tdp1	A	G	12: 99,858,011 (GRCm39)		probably benign	Het
Tmem232	C	A	17: 65,689,628 (GRCm39)	D496Y	possibly damaging	Het
Tomm20l	C	T	12: 71,158,516 (GRCm39)	A58V	possibly damaging	Het
Ttn	T	C	2: 76,775,618 (GRCm39)	E1854G	unknown	Het
Ttn	A	G	2: 76,804,552 (GRCm39)	V240A	probably benign	Het
Vmn2r98	A	T	17: 19,300,887 (GRCm39)	T630S	probably benign	Het
Xrcc1	G	C	7: 24,266,333 (GRCm39)	A220P	probably benign	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
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
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'- TATCCAGTTGAAGGCACATGG -3'
(R):5'- TCTCTAAGTGCTATGCAATAGAGTG -3'

Sequencing Primer
(F):5'- GTCACCAAAGATTCTTCACTTGG -3'
(R):5'- TGTTAGACCATTCTGTCGT -3'

Posted On

2015-03-25