Mutagenetix > Incidental Mutation

Incidental Mutation 'R7597:Lnpk'

587765

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

045672-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.849) question?

Stock #

R7597 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

74350635-74409779 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74399316 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 76 (M76V)

Ref Sequence

ENSEMBL: ENSMUSP00000066891 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064503] [ENSMUST00000102676] [ENSMUST00000111993] [ENSMUST00000130232] [ENSMUST00000130586] [ENSMUST00000134168]

AlphaFold

Q7TQ95

Predicted Effect

probably benign
Transcript: ENSMUST00000064503
AA Change: M76V

PolyPhen 2 Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000066891
Gene: ENSMUSG00000009207
AA Change: M76V

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: M76V

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000099737
Gene: ENSMUSG00000009207
AA Change: M76V

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: M76V

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000107624
Gene: ENSMUSG00000009207
AA Change: M76V

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: M76V

PolyPhen 2 Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000120494
Gene: ENSMUSG00000009207
AA Change: M76V

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: M76V

PolyPhen 2 Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000122488
Gene: ENSMUSG00000009207
AA Change: M76V

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

probably benign
Transcript: ENSMUST00000134168

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	A	G	7: 45,644,661 (GRCm39)	L838P	probably damaging	Het
Adam34l	T	G	8: 44,078,281 (GRCm39)	N648H	probably damaging	Het
Adgrl4	T	A	3: 151,248,895 (GRCm39)	F728I	probably damaging	Het
Asap1	A	G	15: 64,184,304 (GRCm39)	V7A	probably benign	Het
B230104I21Rik	A	G	4: 154,434,050 (GRCm39)		probably benign	Het
C4b	A	T	17: 34,958,649 (GRCm39)	S562T	probably benign	Het
Carmil2	A	G	8: 106,422,121 (GRCm39)	Y1130C	probably damaging	Het
Cit	A	T	5: 116,024,740 (GRCm39)	K328*	probably null	Het
Col18a1	T	C	10: 76,949,137 (GRCm39)	D125G	unknown	Het
Cxadr	T	C	16: 78,125,996 (GRCm39)	V122A	probably damaging	Het
Cyp2d22	G	A	15: 82,260,053 (GRCm39)	P44S	probably damaging	Het
Elapor1	A	G	3: 108,378,745 (GRCm39)	V351A	possibly damaging	Het
Gabrr1	A	G	4: 33,148,964 (GRCm39)	T74A	probably benign	Het
Gfm2	C	A	13: 97,309,086 (GRCm39)	A597E	probably benign	Het
H2-T22	T	C	17: 36,351,408 (GRCm39)	Y274C	probably damaging	Het
Has2	C	A	15: 56,531,817 (GRCm39)	W299C	probably damaging	Het
Hsd17b6	A	G	10: 127,827,227 (GRCm39)	S282P	probably benign	Het
Itga1	T	C	13: 115,110,676 (GRCm39)	I972V	probably benign	Het
Itih5	T	A	2: 10,254,187 (GRCm39)	Y813N	probably damaging	Het
Kctd16	A	G	18: 40,663,848 (GRCm39)	T326A	possibly damaging	Het
Klhdc1	T	C	12: 69,316,642 (GRCm39)	S342P	probably damaging	Het
Kmt2a	T	C	9: 44,742,650 (GRCm39)	I1682M	unknown	Het
Lamc1	T	C	1: 153,116,200 (GRCm39)	K994E	possibly damaging	Het
Lig1	T	G	7: 13,030,270 (GRCm39)	S416A	probably benign	Het
Lims1	A	G	10: 58,248,263 (GRCm39)	E240G	probably damaging	Het
Lrrtm4	T	A	6: 79,999,428 (GRCm39)	L280*	probably null	Het
Mfap3l	A	T	8: 61,124,315 (GRCm39)	I186F	possibly damaging	Het
Mta3	T	C	17: 84,083,011 (GRCm39)	F234L	probably benign	Het
Muc4	C	G	16: 32,575,221 (GRCm39)	Q1269E	probably benign	Het
Mybpc2	C	T	7: 44,159,223 (GRCm39)	G609D	probably damaging	Het
Naga	A	T	15: 82,219,035 (GRCm39)	D237E	probably benign	Het
Naip6	C	T	13: 100,437,108 (GRCm39)	A472T	probably benign	Het
Nbn	G	A	4: 15,963,911 (GRCm39)	S104N	probably damaging	Het
Nipsnap2	T	C	5: 129,816,637 (GRCm39)	L60P	probably damaging	Het
Or4f47	T	A	2: 111,972,925 (GRCm39)	F212I	probably benign	Het
Or8b1b	G	A	9: 38,375,802 (GRCm39)	G155D	probably benign	Het
Pclo	C	T	5: 14,727,601 (GRCm39)	T2153I	unknown	Het
Pclo	A	C	5: 14,908,869 (GRCm39)	K5059T	unknown	Het
Pdlim2	C	A	14: 70,403,645 (GRCm39)	A256S	possibly damaging	Het
Pira2	T	C	7: 3,845,460 (GRCm39)	D308G	probably damaging	Het
Proc	G	T	18: 32,256,689 (GRCm39)	A326E	probably damaging	Het
Rab40b	T	C	11: 121,248,709 (GRCm39)	D182G	probably benign	Het
Rai14	A	G	15: 10,574,937 (GRCm39)	S703P	possibly damaging	Het
Rdx	C	T	9: 51,972,196 (GRCm39)	P2L	possibly damaging	Het
Recql5	T	C	11: 115,819,207 (GRCm39)	K120E	probably benign	Het
Rev3l	C	T	10: 39,698,880 (GRCm39)	R1126C	probably damaging	Het
Slc2a6	G	T	2: 26,917,195 (GRCm39)	D70E	possibly damaging	Het
Slc6a17	A	T	3: 107,378,668 (GRCm39)	D671E	possibly damaging	Het
Slc7a8	G	A	14: 55,018,857 (GRCm39)		probably benign	Het
Srpk2	A	G	5: 23,753,517 (GRCm39)	Y79H	possibly damaging	Het
Traf3ip1	T	A	1: 91,439,167 (GRCm39)	I361K	probably damaging	Het
Trpm8	A	G	1: 88,255,918 (GRCm39)	Y191C	probably damaging	Het
Ubr3	T	C	2: 69,803,812 (GRCm39)	V1135A	possibly damaging	Het
Usp12	C	A	5: 146,691,179 (GRCm39)		probably null	Het
Vmn1r44	C	A	6: 89,870,818 (GRCm39)	P188Q	probably benign	Het
Xirp2	T	A	2: 67,356,099 (GRCm39)	V3620D	possibly damaging	Het
Zcchc14	A	T	8: 122,335,239 (GRCm39)	S294T	unknown	Het
Zfp800	T	C	6: 28,260,764 (GRCm39)	D5G	probably damaging	Het
Zfp87	C	T	13: 67,665,412 (GRCm39)	R350Q	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
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
R6788:Lnpk	UTSW	2	74,360,020 (GRCm39)	missense	probably benign	0.02
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'- TGGTGATATCCTTTGGGCTATAAAG -3'
(R):5'- GTCTTTGGCAATAGACTGATAGAC -3'

Sequencing Primer
(F):5'- GGGCTATAAAGTAGAAATTATCCTA -3'
(R):5'- GTGACTCACAACCATCTGTAATGGG -3'

Posted On

2019-10-24